TISIDB

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein ; SUBCELLULAR LOCATION: Isoform 4: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein ; SUBCELLULAR LOCATION: Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Domain	PF05279 Aspartyl beta-hydroxylase N-terminal region PF05118 Aspartyl/Asparaginyl beta-hydroxylase
Function	Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. ; FUNCTION: Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.

> Gene Ontology [ TOP ]
Biological Process	GO:0003012 muscle system process GO:0003013 circulatory system process GO:0003015 heart process GO:0006936 muscle contraction GO:0008015 blood circulation GO:0008016 regulation of heart contraction GO:0010950 positive regulation of endopeptidase activity GO:0010952 positive regulation of peptidase activity GO:0016485 protein processing GO:0031638 zymogen activation GO:0035637 multicellular organismal signaling GO:0044057 regulation of system process GO:0045862 positive regulation of proteolysis GO:0051604 protein maturation GO:0052547 regulation of peptidase activity GO:0052548 regulation of endopeptidase activity GO:0060047 heart contraction GO:0061337 cardiac conduction GO:0097202 activation of cysteine-type endopeptidase activity GO:1903522 regulation of blood circulation GO:1903779 regulation of cardiac conduction GO:2000116 regulation of cysteine-type endopeptidase activity GO:2001056 positive regulation of cysteine-type endopeptidase activity
Molecular Function	GO:0004597 peptide-aspartate beta-dioxygenase activity GO:0008307 structural constituent of muscle GO:0009055 electron carrier activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0051213 dioxygenase activity
Cellular Component	GO:0005938 cell cortex GO:0016528 sarcoplasm GO:0016529 sarcoplasmic reticulum GO:0031984 organelle subcompartment GO:0032541 cortical endoplasmic reticulum GO:0033017 sarcoplasmic reticulum membrane GO:0044448 cell cortex part GO:0071782 endoplasmic reticulum tubular network GO:0098827 endoplasmic reticulum subcompartment GO:0099568 cytoplasmic region

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-5576891: Cardiac conduction R-HSA-983712: Ion channel transport R-HSA-5578775: Ion homeostasis R-HSA-397014: Muscle contraction R-HSA-2672351: Stimuli-sensing channels R-HSA-382551: Transmembrane transport of small molecules

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between ASPH and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining

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Literatures describing the relation between ASPH and anti-tumor immunity in human cancer.

PMID	Cancer type	Relation to immunity	Evidence sentences
22245894	Hepatocellular Carcinoma	Promote immunity (T cell function); essential for immunotherapy	We found that immunotherapy with ASPH-loaded DCs suppressed and delayed established HCC and tumor growth when administered prophylactically.
21898484	cholangiocarcinoma	Promote immunity	These findings suggest that immunization with ASPH-loaded DCs may constitute a novel therapeutic approach for intrahepatic cholangiocarcinoma, because this protein also appears to be highly conserved and expressed on human hepatobiliary tumors. Immunization with ASPH-loaded DCs generated cytotoxicity against cholangiocarcinoma cells in vitro and significantly suppressed intrahepatic tumor growth and metastasis, and was associated with increased CD3+ lymphocyte infiltration into the tumors.

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of ASPH in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of ASPH in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-0.483	0.295
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.762	0.772
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.273	0.882
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.047	0.877
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.011	0.997
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.123	0.97
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.138	0.803
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	-0.077	0.972
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.333	0.892
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.26	0.895
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	1.092	0.713
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.17	0.155

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of ASPH in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	7.1	0	7.1	0.452
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	10	0	10	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	22.2	5.5	16.7	0.0222
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	22.2	6.8	15.4	0.0651
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	5.9	-1.1	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	7.7	9.1	-1.4	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	6.2	4.9	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	20	11.1	8.9	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	2.6	0	2.6	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	4.5	0	4.5	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of ASPH. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of ASPH. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by ASPH. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of ASPH. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of ASPH expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between ASPH and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	ASPH
Name	aspartate beta-hydroxylase
Aliases	CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location	8q12.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting ASPH collected from DrugBank database.

> Drugs from DrugBank database

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Details on drugs targeting ASPH.

ID	Name	Drug Type	Targets	#Targets
DB00128	L-Aspartic Acid	Small Molecule	ACY1, ACY3, ADSS, ADSSL1, ASNS, ASPA, ASPH, ASRGL1, ASS1, CAD, DAR ......	20
DB00139	Succinic acid	Small Molecule	ALDH5A1, ASPH, BBOX1, HSD17B6, OXCT1, OXCT2, P3H1, P3H2, P3H3, P4H ......	26

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