CR2Cancer

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

Function

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	-
Molecular Function	GO:0015631 tubulin binding GO:0042393 histone binding GO:0042826 histone deacetylase binding GO:0043021 ribonucleoprotein complex binding GO:0051219 phosphoprotein binding GO:0097110 scaffold protein binding
Cellular Component	GO:0000775 chromosome, centromeric region GO:0000776 kinetochore GO:0000777 condensed chromosome kinetochore GO:0000779 condensed chromosome, centromeric region GO:0000793 condensed chromosome GO:0098687 chromosomal region

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM5880077	c.879_880insAT	p.K295fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144700	c.?	p.D333fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5752076	c.721_722insCA	p.K241fs*39	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752502	c.223delA	p.R76fs*5	Deletion - Frameshift	Breast
COSM5880060	c.374+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144669	c.898A>G	p.T300A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385774	c.308_309insA	p.Y103fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1465737	c.537C>T	p.T179T	Substitution - coding silent	Large_intestine
COSM255184	c.673C>T	p.R225*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327311	c.882A>G	p.I294M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1220385	c.351G>T	p.E117D	Substitution - Missense	Large_intestine
COSM5546652	c.97_113>G	p.I33fs*43	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4914860	c.395A>G	p.K132R	Substitution - Missense	Liver
COSM5751890	c.881T>C	p.I294T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4774973	c.986A>C	p.H329P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751649	c.302_303insT	p.R101fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM144709	c.?	p.C215F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1115438	c.897G>T	p.K299N	Substitution - Missense	Endometrium
COSM144707	c.?	p.S158fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM255184	c.673C>T	p.R225*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5546654	c.341_342insGAGGTCCA	p.I115fs*31	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM158743	c.860G>T	p.G287V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM422226	c.202G>T	p.E68*	Substitution - Nonsense	Urinary_tract
COSM5880063	c.435delT	p.F146fs*72	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5991598	c.225_226delAA	p.G77fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1235023	c.554_580>CCCGGGGA	p.H185fs*27	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5880303	c.479_480insA	p.K161fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255183	c.736_737insTT	p.S246fs*34	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM327311	c.882A>G	p.I294M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4154847	c.720T>G	p.Y240*	Substitution - Nonsense	Kidney
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1115431	c.5C>G	p.S2*	Substitution - Nonsense	Endometrium
COSM5944860	c.187_188insAAGC	p.G63fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144712	c.?	p.C280Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4923692	c.675A>G	p.R225R	Substitution - coding silent	Liver
COSM255188	c.27_28insA	p.G10fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255182	c.653_667>13	p.G218fs*3	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945630	c.969-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144575	c.76_95>TTGG	p.K26fs*50	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM3719014	c.866C>A	p.T289N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1159590	c.2T>A	p.M1K	Substitution - Missense	Pancreas
COSM144633	c.?	p.R335fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944872	c.788_789insCCGTC	p.D264fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5880066	c.476_480delAAAAG	p.K161fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385506	c.674G>A	p.R225Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM69277	c.730-1G>C	p.?	Unknown	Ovary
COSM158743	c.860G>T	p.G287V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM5945587	c.487C>T	p.R163C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5546648	c.716A>G	p.H239R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944863	c.395_396insGAAAACT	p.A135fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5904086	c.307T>A	p.Y103N	Substitution - Missense	Skin
COSM4606362	c.?_?insGGCA	p.N23fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5751973	c.375-1G>AG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144631	c.?	p.H302Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945584	c.375-2A>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3405981	c.943G>C	p.E315Q	Substitution - Missense	Central_nervous_system
COSM4606367	c.385C>T	p.R129*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945575	c.241-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4106766	c.512A>T	p.N171I	Substitution - Missense	Stomach
COSM5945590	c.585+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1756397	c.956G>T	p.R319L	Substitution - Missense	Urinary_tract
COSM5427493	c.785A>T	p.D262V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3558101	c.888C>T	p.A296A	Substitution - coding silent	Skin
COSM4775141	c.93_94insC	p.L32fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752028	c.986_987insG	p.H329fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM158731	c.725G>A	p.C242Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385554	c.643T>C	p.C215R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144715	c.?	p.Y303*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144573	c.986A>G	p.H329R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5546651	c.384C>G	p.C128W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752502	c.223delA	p.R76fs*5	Deletion - Frameshift	Breast
COSM5880075	c.834G>A	p.M278I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1319506	c.636_637insGGATA	p.F214fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751599	c.76_77insGTATGGAG	p.K26fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5880309	c.905A>C	p.H302P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5427493	c.785A>T	p.D262V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4606366	c.?_?insCC	p.G213fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5880054	c.79_80insA	p.C28fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1115434	c.415G>A	p.E139K	Substitution - Missense	Endometrium
COSM5944854	c.75_76insAAGG	p.C28fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5880311	c.94_94C>GCCTA	p.L32fs*5	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4168277	c.941T>A	p.I314N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6008821	c.93_94delAC	p.L31fs*4	Deletion - Frameshift	Prostate
COSM144628	c.986A>T	p.H329L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4775025	c.789_790insGC	p.D264fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1115432	c.256C>T	p.H86Y	Substitution - Missense	Endometrium
COSM1235025	c.461_462delCA	p.S154fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM158731	c.725G>A	p.C242Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880057	c.128_129insT	p.K44fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255184	c.673C>T	p.R225*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144703	c.?	p.C28fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4385492	c.130A>T	p.K44*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4606374	c.890G>A	p.C297Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1194694	c.70A>G	p.R24G	Substitution - Missense	Lung
COSM5752056	c.295_296insA	p.C99fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3357385	c.374+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1724607	c.585+6_585+7insA	p.?	Unknown	Skin
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144570	c.903C>A	p.Y301*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144697	c.?	p.K235*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751375	c.125_126insCC	p.H43fs*39	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4002259	c.585+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5546647	c.222_224TAA>CCCC	p.K75fs*21	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4172512	c.?	p.A41V	Substitution - Missense	Skin
COSM144568	c.823G>A	p.G275R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5366922	c.978T>C	p.C326C	Substitution - coding silent	Large_intestine
COSM4994825	c.619G>T	p.D207Y	Substitution - Missense	Large_intestine
COSM1235291	c.409_418del10	p.N137fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1133045	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144708	c.?	p.C215Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219084	c.?	p.K44E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3357388	c.418+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4385489	c.92T>G	p.L31*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3973273	c.410A>G	p.N137S	Substitution - Missense	Central_nervous_system
COSM4606367	c.385C>T	p.R129*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751236	c.821G>AG	p.R274fs*20	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945618	c.824G>T	p.G275V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3372072	c.277G>T	p.G93C	Substitution - Missense	Thyroid
COSM4385518	c.941T>C	p.I314T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306075	c.374+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM255185	c.267_268insTTAGGACC	p.A90fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144574	c.779_780ins11	p.D262fs*21	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255190	c.968+2_968+5delTAAG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945593	c.586-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM305985	c.730-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM305985	c.730-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3747319	c.313T>C	p.Y105H	Substitution - Missense	Liver
COSM4606372	c.?_?insG	p.F263fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1319510	c.415G>T	p.E139*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM1636387	c.1088A>G	p.N363S	Substitution - Missense	Liver
COSM5945575	c.241-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5752669	c.1042G>T	p.G348*	Substitution - Nonsense	Breast
COSM4774987	c.407_408insT	p.N137fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945628	c.903C>G	p.Y301*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3357385	c.374+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4385483	c.3G>C	p.M1I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944857	c.127_128insG	p.H43fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255184	c.673C>T	p.R225*	Substitution - Nonsense	Liver
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1262069	c.378C>G	p.V126V	Substitution - coding silent	Oesophagus
COSM5880069	c.639_640insCC	p.F214fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4606370	c.?_?insT	p.C215fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM144695	c.?	p.F172fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4775910	c.91_101del11	p.L31fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144568	c.823G>A	p.G275R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144705	c.?	p.T98fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4408226	c.17A>C	p.E6A	Substitution - Missense	Pancreas
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385509	c.719A>G	p.Y240C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5427493	c.785A>T	p.D262V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1319508	c.586-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4170005	c.868A>T	p.I290F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4168272	c.847T>A	p.C283S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4606364	c.?_?ins11	p.C242fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4168269	c.806T>C	p.L269P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255187	c.83_101>AT	p.C28fs*2	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945607	c.725G>T	p.C242F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945610	c.729G>A	p.M243I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944866	c.585+4_585+5insAGTAA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144570	c.903C>A	p.Y301*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM5991599	c.904_904delC	p.H302fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3363819	c.638G>T	p.G213V	Substitution - Missense	Kidney
COSM5944469	c.70_71delAG	p.D25fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5095008	c.677G>A	p.G226E	Substitution - Missense	Thymus
COSM1235292	c.634_635delTG	p.C212fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944851	c.58_59insT	p.C20fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1319512	c.65_66insA	p.N23fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944869	c.591_592insAGGTCTC	p.P200fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144629	c.?	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144698	c.?	p.A41fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM255181	c.90_91insCCCG	p.L31fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144634	c.?	p.C20fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144569	c.835_835delA	p.K279fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2726751	c.506A>C	p.K169T	Substitution - Missense	Large_intestine
COSM5880302	c.631A>T	p.K211*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1756397	c.956G>T	p.R319L	Substitution - Missense	Urinary_tract
COSM5546650	c.839_840ins13	p.C280fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM755295	c.742G>T	p.G248C	Substitution - Missense	Lung
COSM5762915	c.661G>T	p.E221*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM6005414	c.210C>T	p.V70V	Substitution - coding silent	Prostate
COSM211020	c.871G>T	p.G291*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144709	c.?	p.C215F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255188	c.27_28insA	p.G10fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752669	c.1042G>T	p.G348*	Substitution - Nonsense	Breast
COSM1262067	c.570G>T	p.M190I	Substitution - Missense	Oesophagus
COSM4385771	c.69_70insA	p.R24fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235026	c.834+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945596	c.637G>A	p.G213R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2726745	c.414C>T	p.S138S	Substitution - coding silent	Upper_aerodigestive_tract
COSM2726745	c.414C>T	p.S138S	Substitution - coding silent	Upper_aerodigestive_tract
COSM306075	c.374+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1315227	c.137+2G>A	p.?	Unknown	Urinary_tract
COSM5752094	c.780_789del10	p.F260fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1315229	c.790G>C	p.D264H	Substitution - Missense	Urinary_tract
COSM4606368	c.?_?insGGCCC	p.Y103fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5991601	c.241_374del134	p.M81fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3558103	c.903C>T	p.Y301Y	Substitution - coding silent	Skin
COSM4606367	c.385C>T	p.R129*	Substitution - Nonsense	Kidney
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751934	c.79_80insT	p.E27fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5751501	c.673_674insT	p.R225fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4606373	c.(787_789)T>C	p.F263L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1319510	c.415G>T	p.E139*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751283	c.820_821insT	p.R274fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5950134	c.948T>G	p.N316K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255184	c.673C>T	p.R225*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235283	c.978T>G	p.C326W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880304	c.517A>T	p.K173*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4168250	c.22_23insA	p.G10fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1115436	c.587G>A	p.R196K	Substitution - Missense	Endometrium
COSM4606367	c.385C>T	p.R129*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144573	c.986A>G	p.H329R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880308	c.957_958insGT	p.G320fs*32	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385498	c.469delA	p.S158fs*60	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2726749	c.457C>T	p.P153S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144629	c.?	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM755296	c.187G>T	p.G63C	Substitution - Missense	Lung
COSM5944472	c.347_348delGA	p.K118fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385518	c.941T>C	p.I314T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5991600	c.434_439GTTTTA>TCAGTTC	p.S145fs*4	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM144630	c.?	p.R342*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751755	c.28_29insA	p.G10fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144635	c.?	p.N171fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945604	c.725G>C	p.C242S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1115433	c.396G>T	p.K132N	Substitution - Missense	Endometrium
COSM5880312	c.134_134G>CC	p.C45fs*14	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945623	c.853C>T	p.Q285*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4606369	c.?_?insCA	p.N147fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5546653	c.128_130ATA>TGGGTTC	p.H43fs*17	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235290	c.404C>T	p.A135V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM158731	c.725G>A	p.C242Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4168259	c.261T>A	p.C87*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1490507	c.421G>A	p.D141N	Substitution - Missense	Breast
COSM4775145	c.340_341insA	p.I115fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385516	c.865A>G	p.T289A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945572	c.68A>G	p.N23S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144708	c.?	p.C215Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM456777	c.347G>A	p.R116Q	Substitution - Missense	Endometrium
COSM4168279	c.953delC	p.S318fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5546655	c.442G>T	p.E148*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144701	c.?	p.R225*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM255186	c.902_903insA	p.Y301fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945626	c.877G>A	p.E293K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5546648	c.716A>G	p.H239R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM456778	c.982A>T	p.N328Y	Substitution - Missense	Breast
COSM5546649	c.604A>T	p.R202*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4168274	c.874T>C	p.C292R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256007	c.?	p.H136fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144568	c.823G>A	p.G275R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144563	c.1024C>T	p.R342*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751501	c.673_674insT	p.R225fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1115437	c.786_787insT	p.D264fs*1	Insertion - Frameshift	Endometrium
COSM4168256	c.129T>A	p.H43Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144564	c.289A>T	p.K97*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4168253	c.128_129insGAGTC	p.H43fs*40	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5880306	c.586_587insA	p.R196fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4606371	c.?_?insATCCT	p.S246fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5880307	c.971T>C	p.L324P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945581	c.323C>A	p.A108E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945578	c.322G>A	p.A108T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256008	c.1_1098del1098	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM137286	c.811G>A	p.E271K	Substitution - Missense	Skin
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1115439	c.954A>G	p.S318S	Substitution - coding silent	Endometrium
COSM144714	c.?	p.R257*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327314	c.916G>T	p.G306*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5702604	c.119C>A	p.A40E	Substitution - Missense	Autonomic_ganglia
COSM4774967	c.375-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144565	c.525_526delGT	p.S176fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144572	c.973T>C	p.Y325H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4606365	c.737C>A	p.S246Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255218	c.123_124insAGGCA	p.H42fs*41	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385495	c.418G>A	p.A140T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945621	c.834+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4168281	c.968+1_968+2delGT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144629	c.?	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385501	c.596C>G	p.S199C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255184	c.673C>T	p.R225*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327312	c.631A>G	p.K211E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1115431	c.5C>G	p.S2*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1636387	c.1088A>G	p.N363S	Substitution - Missense	Liver
COSM255189	c.968+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144627	c.600_600delA	p.H201fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4606367	c.385C>T	p.R129*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144694	c.?	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4775163	c.66_69delAAAT	p.N23fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144711	c.?	p.A311P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM487987	c.356C>A	p.P119H	Substitution - Missense	Kidney
COSM456777	c.347G>A	p.R116Q	Substitution - Missense	Breast
COSM487988	c.875G>C	p.C292S	Substitution - Missense	Kidney
COSM5752102	c.729+1_729+2insACCCATG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5880072	c.711_712insTC	p.A238fs*42	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4168263	c.407delA	p.H136fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM158743	c.860G>T	p.G287V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1636385	c.418+8A>G	p.?	Unknown	Liver
COSM144702	c.?	p.C283R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385486	c.61delA	p.K21fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM256006	c.?	p.S193fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM385771	c.565G>A	p.E189K	Substitution - Missense	Lung
COSM5945613	c.730-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144696	c.?	p.Y303fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144632	c.?	p.A40G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4606374	c.890G>A	p.C297Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144567	c.820C>T	p.R274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5991599	c.904_904delC	p.H302fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1235024	c.807_808insGGCCCCTC	p.Q270fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4606367	c.385C>T	p.R129*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945599	c.709G>A	p.A237T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751924	c.839G>A	p.C280Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880079	c.914G>A	p.C305Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880079	c.914G>A	p.C305Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144566	c.808C>T	p.Q270*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1159590	c.2T>A	p.M1K	Substitution - Missense	Pancreas
COSM5751883	c.955_956insT	p.R319fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4168279	c.953delC	p.S318fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144706	c.?	p.Y105fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1235026	c.834+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM306061	c.821G>A	p.R274Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144626	c.955C>T	p.R319*	Substitution - Nonsense	Stomach
COSM144704	c.?	p.H43fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5751150	c.385_386insT	p.R129fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169632	c.?	p.A296fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4761565	c.892G>A	p.V298I	Substitution - Missense	Stomach
COSM4606361	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5751236	c.821G>AG	p.R274fs*20	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM3747319	c.313T>C	p.Y105H	Substitution - Missense	Breast
COSM1133045	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4606363	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1115435	c.567A>T	p.E189D	Substitution - Missense	Endometrium
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3558099	c.491A>G	p.K164R	Substitution - Missense	Skin
COSM144571	c.933_934insT	p.K312fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385518	c.941T>C	p.I314T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4168266	c.513delT	p.F172fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM158731	c.725G>A	p.C242Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385514	c.833T>A	p.M278K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751440	c.941T>AT	p.I314fs*2	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4774973	c.986A>C	p.H329P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM158743	c.860G>T	p.G287V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144693	c.?	p.G122*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144694	c.?	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327313	c.346C>T	p.R116*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3719601	c.1018G>A	p.E340K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880305	c.731_732delTG	p.L244fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
27698851	mutation	T Acute Lymphoblastic Leukemia	A total of 4 novel DNM2 mutations were identified in adult T-ALL patients, with a mutation rate of 9.5%, and the DNM2 mutations were found to co-exist with NOTCH1 and PHD finger protein 6, and were also associated with high-risk leukemia.
26341754	mutation	T Acute Lymphoblastic Leukemia	Mutant PHF6 was present in 13 and 20.7 % of our childhood and adult cohorts, respectively, while PTEN mutations were noted in 11.1 % of the pediatric patients.
25595890	mutation	T Acute Lymphoblastic Leukemia	Mutation frequencies of FBXW7 (10%), WT1 (10%), JAK3 (12%), PHF6 (11%), and BCL11B (10%) were in line with previous reports.
23354995	mutation	T Acute Lymphoblastic Leukemia	Eight patients (28 %; six males and two females) had PHF6 mutations including four novel mutations.
23341344	mutation	T Acute Lymphoblastic Leukemia	NOTCH1 was the most frequently mutated gene with a 71.1% frequency followed by FBXW7 (18.9%), PHF6 (39.5%), DNMT3A (17.8%), RUNX1 (15.5%), PTEN (10.0%), CDKN2A (4.4%), FLT3-ITD (2.2%), and FLT3-TKD (1.1%).
23114116	mutation	T Acute Lymphoblastic Leukemia	PHF6 and NOTCH1 gene mutations were found in 4 and 5 out of 6 SET-NUP214 positive T-ALL patients, respectively.
22417203	mutation	Acute Myeloid Leukemia	We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 and PHF6 were associated with reduced overall survival (P=0.001 for FLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival (P=0.05 for CEBPA and P=0.01 for IDH2).
21880637	mutation; copy number loss	T Acute Lymphoblastic Leukemia	PHF6 mutations were identified in 11/59 (18.6%) adult and 2/37 (5.4%) pediatric cases of T-cell acute lymphoblastic leukemia, these incidences being significantly lower than those recently reported. PHF6 deletions were detected in 2/79 (2.5%) patients analyzed.
21736506	mutation	T Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	In the hematologic malignancies, there were 11 PHF6 mutations that were detected not only in T-ALL (34.7%) (five adult and three childhood T-ALL), but also in two AML (1.9%) (one acute monocytic leukemia and one AML minimally differentiated).
21030981	mutation (loss of function)	T Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	Loss of function mutations and deletions encompassing the plant homeodomain finger 6 (PHF6) gene are present in about 20% of T-cell acute lymphoblastic leukemias (ALLs). Genetic lesions in PHF6 found in AMLs are frameshift and nonsense mutations distributed through the gene or point mutations involving the second plant homeodomain (PHD)-like domain of the protein.
20228800	mutation (loss of function)	T Acute Lymphoblastic Leukemia	In this study, we report the identification of inactivating mutations and deletions in the X-linked plant homeodomain finger 6 (PHF6) gene in 16% of pediatric and 38% of adult primary T-ALL samples.
24674452	loss of expression (mutation)	Acute Myeloid Leukemia	Moreover, a recurrent microdeletion was detected in Xq26.3 (n=2), causing loss of PHF6 expression, a potential tumor suppressor gene, and the miR-424, which is involved in the development of acute myeloid leukemia.
27137476	mutation	T Acute Lymphoblastic Leukemia	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q8IWS0	138	S	Phosphoserine	-	No	None detected
Q8IWS0	145	S	Phosphoserine	-	No	None detected
Q8IWS0	155	S	Phosphoserine	-	No	None detected
Q8IWS0	183	S	Phosphoserine	-	No	None detected
Q8IWS0	199	S	Phosphoserine	-	No	None detected
Q8IWS0	358	T	Phosphothreonine	-	No	None detected

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	4.386	5.063	0.611	0.000346	Over
BRCA	Breast invasive carcinoma	112	1100	4.978	5.358	0.417	1.98e-10	NS
CESC	Cervical and endocervical cancers	3	306	4.498	5.444	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	4.596	5.36	0.671	4.1e-08	Over
ESCA	Esophageal carcinoma	11	185	4.614	5.433	0.803	1.94e-05	Over
GBM	Glioblastoma multiforme	5	166	4.774	5.365	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	4.53	4.814	0.364	0.000329	NS
KIRC	Kidney renal clear cell carcinoma	72	534	5.181	4.768	-0.555	1.26e-17	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	4.73	4.592	-0.224	0.0448	NS
LAML	Acute Myeloid Leukemia	0	173	NA	6.022	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.74	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	3.058	3.522	0.503	1.4e-06	NS
LUAD	Lung adenocarcinoma	59	517	4.383	5.02	0.623	2.05e-15	Over
LUSC	Lung squamous cell carcinoma	51	501	4.296	5.394	1.052	5.77e-33	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	5.268	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	4.568	4.56	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.459	4.931	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	4.919	4.943	-0.026	0.797	NS
READ	Rectum adenocarcinoma	10	167	4.668	5.365	0.632	0.0264	Over
SARC	Sarcoma	2	263	3.825	4.587	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.588	5.059	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	4.138	5.098	0.896	1.91e-13	Over
TGCT	Testicular Germ Cell Tumors	0	156	NA	4.802	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.121	5.091	0.011	0.858	NS
THYM	Thymoma	2	120	5.344	5.338	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	4.671	5.152	0.239	0.115	NS

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	7.6
Adrenal gland	23.5
Appendix	19.4
Bone marrow	5.3
Breast	13.2
Cerebral cortex	19.5
Cervix, uterine	12.6
Colon	9.1
Duodenum	9.1
Endometrium	16.2
Epididymis	39.2
Esophagus	9
Fallopian tube	12.7
Gallbladder	10.5
Heart muscle	4.3
Kidney	11.1
Liver	3.9
Lung	10.1
Lymph node	30
Ovary	40.7
Pancreas	1.9
Parathyroid gland	41.2
Placenta	13.2
Prostate	14.5
Rectum	11.6
Salivary gland	5.5
Seminal vesicle	15.4
Skeletal muscle	1.7
Skin	9.9
Small intestine	9.9
Smooth muscle	11.9
Spleen	18.6
Stomach	8.6
Testis	17.2
Thyroid gland	21.8
Tonsil	28.2
Urinary bladder	12.2

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
26561469	aberrant expression	Breast Carcinoma; Colorectal Carcinoma; Esophageal Neoplasm	The results demonstrated that although PHF6 has been previously known as a tumor suppressor gene, it was remarkably overexpressed in many cancer types such as breast and colorectal cancers. Notably, PHF6 was under-expressed in a few types of cancer, including esophageal tumors.
24919120	overexpression	Glioblastoma	Analysis of PHF6 expression showed significant upregulation in glioblastoma as compared to normal tissue.
24674452	loss of expression (mutation)	Acute Myeloid Leukemia	Moreover, a recurrent microdeletion was detected in Xq26.3 (n=2), causing loss of PHF6 expression, a potential tumor suppressor gene, and the miR-424, which is involved in the development of acute myeloid leukemia.

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.34	2.18e-12	19.6	64.4	16.1	Neutral
BRCA	Breast invasive carcinoma	1075	0.091	0.00272	17	67.3	15.6	Neutral
CESC	Cervical and endocervical cancers	292	0.325	1.28e-08	18.8	61.3	19.9	Neutral
COAD	Colon adenocarcinoma	449	0.046	0.33	11.1	69.5	19.4	Neutral
ESCA	Esophageal carcinoma	183	0.375	1.75e-07	13.1	53	33.9	Gain
GBM	Glioblastoma multiforme	147	0.045	0.59	21.8	71.4	6.8	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.197	7e-06	11.7	64.2	24.1	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.059	0.177	9.5	85.1	5.3	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	-0.234	6.21e-05	9.7	58	32.3	Neutral
LAML	Acute Myeloid Leukemia	166	-0.08	0.307	3.6	95.8	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.086	0.0511	14.8	76.4	8.8	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.248	1.63e-06	17	62.9	20.1	Neutral
LUAD	Lung adenocarcinoma	512	0.326	4.21e-14	9.6	64.6	25.8	Neutral
LUSC	Lung squamous cell carcinoma	498	0.304	4.1e-12	20.9	57.6	21.5	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.325	8.01e-09	37.3	29	33.7	Gain
PAAD	Pancreatic adenocarcinoma	177	0.201	0.00745	10.2	79.7	10.2	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	-0.1	0.206	32.7	64.2	3.1	Neutral
PRAD	Prostate adenocarcinoma	491	0.064	0.159	5.9	91	3.1	Neutral
READ	Rectum adenocarcinoma	164	0.082	0.296	14	63.4	22.6	Neutral
SARC	Sarcoma	255	0.229	0.00023	49.8	41.6	8.6	Loss
SKCM	Skin Cutaneous Melanoma	367	0.04	0.445	25.3	61.3	13.4	Neutral
STAD	Stomach adenocarcinoma	413	0.393	1.12e-16	10.2	71.9	17.9	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.122	0.138	19.3	64.7	16	Neutral
THCA	Thyroid carcinoma	497	0.028	0.537	0.8	97.6	1.6	Neutral
THYM	Thymoma	119	0.315	0.000491	3.4	90.8	5.9	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.047	0.275	13.6	72.4	14	Neutral

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.237	8.75e-07	17	408	-0.01	0.0775	NS/NA
BRCA	Breast invasive carcinoma	-0.311	5.67e-21	83	785	-0.037	2.69e-25	NS/NA
CESC	Cervical and endocervical cancers	-0.287	3.18e-07	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.146	0.00922	19	297	0.003	0.952	NS/NA
ESCA	Esophageal carcinoma	-0.325	4.32e-06	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.402	0.000981	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.243	1.16e-08	20	522	0.001	0.775	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.134	0.0131	24	319	0.067	0.00227	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.231	5.74e-05	23	275	0.216	3.14e-07	Increased
LAML	Acute Myeloid Leukemia	-0.04	0.606	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.361	3.05e-18	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.149	0.00245	41	373	0.001	0.0152	NS/NA
LUAD	Lung adenocarcinoma	-0.182	6.61e-05	21	456	0.169	0.551	NS/NA
LUSC	Lung squamous cell carcinoma	-0.412	0	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.583	0.108	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.029	0.699	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.403	1.41e-08	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.199	3.68e-06	35	498	0.001	0.0594	NS/NA
READ	Rectum adenocarcinoma	-0.216	0.03	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.119	0.0543	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.165	0.000317	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.223	1.46e-05	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.233	0.00345	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.067	0.115	50	509	0.027	0.593	NS/NA
THYM	Thymoma	-0.035	0.703	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.241	1.55e-07	34	431	-0.034	1.19e-14	NS/NA

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	2	Medium
Appendix	2	Medium
Bone marrow	1	Low
Breast	2	Medium
Bronchus	2	Medium
Caudate	2	Medium
Cerebellum	3	High
Cerebral cortex	2	Medium
Cervix, uterine	3	High
Colon	2	Medium
Duodenum	2	Medium
Endometrium	1	Low
Epididymis	3	High
Esophagus	3	High
Fallopian tube	2	Medium
Gallbladder	2	Medium
Heart muscle	2	Medium
Hippocampus	2	Medium
Kidney	2	Medium
Liver	0	Not detected
Lung	2	Medium
Lymph node	2	Medium
Nasopharynx	2	Medium
Oral mucosa	2	Medium
Ovary	3	High
Pancreas	2	Medium
Parathyroid gland	0	Not detected
Placenta	2	Medium
Prostate	0	Not detected
Rectum	2	Medium
Salivary gland	2	Medium
Seminal vesicle	2	Medium
Skeletal muscle	1	Low
Skin	2	Medium
Small intestine	2	Medium
Smooth muscle	2	Medium
Soft tissue	2	Medium
Spleen	2	Medium
Stomach	2	Medium
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	2	Medium
Vagina	3	High

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.339	NS	24476821
BRCA	Breast invasive carcinoma	521	1.5e-15	Significant	23000897
COAD	Colon adenocarcinoma	149	0.399	NS	22810696
GBM	Glioblastoma multiforme	157	7.82e-05	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.00491	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0825	NS	26536169
LGG	Brain Lower Grade Glioma	513	2.22e-21	Significant	26824661
LUAD	Lung adenocarcinoma	230	1e-04	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	2.2e-08	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.000275	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.166	NS	26544944
READ	Rectum adenocarcinoma	67	0.632	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.174	NS	26091043
STAD	Stomach adenocarcinoma	277	4.57e-10	Significant	25079317
THCA	Thyroid carcinoma	391	0.609	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.118	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.827	0.367	NS
BRCA	Breast invasive carcinoma	1079	1.649	0.027	Shorter
CESC	Cervical and endocervical cancers	291	0.811	0.514	NS
COAD	Colon adenocarcinoma	439	1.203	0.501	NS
ESCA	Esophageal carcinoma	184	1.649	0.148	NS
GBM	Glioblastoma multiforme	158	0.484	0.00369	Longer
HNSC	Head and Neck squamous cell carcinoma	518	1.3	0.198	NS
KIRC	Kidney renal clear cell carcinoma	531	0.811	0.338	NS
KIRP	Kidney renal papillary cell carcinoma	287	1.971	0.109	NS
LAML	Acute Myeloid Leukemia	149	1.136	0.653	NS
LGG	Brain Lower Grade Glioma	511	0.565	0.0221	Longer
LIHC	Liver hepatocellular carcinoma	365	1.833	0.0134	Shorter
LUAD	Lung adenocarcinoma	502	1.456	0.0621	NS
LUSC	Lung squamous cell carcinoma	494	0.635	0.0157	Longer
OV	Ovarian serous cystadenocarcinoma	303	1.074	0.732	NS
PAAD	Pancreatic adenocarcinoma	177	2.164	0.00844	Shorter
PCPG	Pheochromocytoma and Paraganglioma	179	1697834696.542	0.0762	NS
PRAD	Prostate adenocarcinoma	497	1.298	0.76	NS
READ	Rectum adenocarcinoma	159	0.776	0.721	NS
SARC	Sarcoma	259	2.275	0.00659	Shorter
SKCM	Skin Cutaneous Melanoma	459	0.627	0.0197	Longer
STAD	Stomach adenocarcinoma	388	0.65	0.0579	NS
TGCT	Testicular Germ Cell Tumors	134	0	0.317	NS
THCA	Thyroid carcinoma	500	0.585	0.554	NS
THYM	Thymoma	119	1.482	0.665	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	2.582	0.00221	Shorter

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.059	0.234	NS
BRCA	Breast invasive carcinoma	1071	-0.033	0.281	NS
CESC	Cervical and endocervical cancers	167	-0.007	0.925	NS
COAD	Colon adenocarcinoma	445	-0.033	0.484	NS
ESCA	Esophageal carcinoma	162	0.134	0.0902	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.009	0.856	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.097	0.0249	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.135	0.0301	Higher
LIHC	Liver hepatocellular carcinoma	347	0.163	0.00229	Higher
LUAD	Lung adenocarcinoma	507	0.03	0.495	NS
LUSC	Lung squamous cell carcinoma	497	0.057	0.208	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.059	0.304	NS
PAAD	Pancreatic adenocarcinoma	176	0.043	0.567	NS
READ	Rectum adenocarcinoma	156	0.01	0.906	NS
SKCM	Skin Cutaneous Melanoma	410	-0.06	0.227	NS
STAD	Stomach adenocarcinoma	392	-0.001	0.984	NS
TGCT	Testicular Germ Cell Tumors	81	-0.005	0.965	NS
THCA	Thyroid carcinoma	499	-0.035	0.44	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.073	0.104	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.018	0.771	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.145	0.00122	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.036	0.409	NS
LGG	Brain Lower Grade Glioma	514	-0.091	0.0381	Lower
LIHC	Liver hepatocellular carcinoma	366	0.056	0.286	NS
OV	Ovarian serous cystadenocarcinoma	296	-0.057	0.327	NS
PAAD	Pancreatic adenocarcinoma	176	0.117	0.122	NS
STAD	Stomach adenocarcinoma	406	-0.078	0.115	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.201	2.98e-06	Higher

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for PHF6.

Summary
Symbol	PHF6
Name	PHD finger protein 6
Aliases	KIAA1823; MGC14797; CENP-31; centromere protein 31; BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; PHD-like ......
Location	Xq26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining [ TOP ]
There is no record for PHF6.