TISIDB

Summary
Symbol	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
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	Nucleus Note=Forms foci in response to DNA damage.
Domain	PF16099 Recq-mediated genome instability protein 1 PF08585 RecQ mediated genome instability protein
Function	Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability.

> Gene Ontology [ TOP ]
Biological Process	GO:0000731 DNA synthesis involved in DNA repair GO:0000732 strand displacement GO:0002021 response to dietary excess GO:0002023 reduction of food intake in response to dietary excess GO:0006260 DNA replication GO:0006310 DNA recombination GO:0007631 feeding behavior GO:0009743 response to carbohydrate GO:0009746 response to hexose GO:0009749 response to glucose GO:0009991 response to extracellular stimulus GO:0031667 response to nutrient levels GO:0033500 carbohydrate homeostasis GO:0034284 response to monosaccharide GO:0035264 multicellular organism growth GO:0042593 glucose homeostasis GO:0042755 eating behavior GO:0071897 DNA biosynthetic process GO:0072331 signal transduction by p53 class mediator GO:1901796 regulation of signal transduction by p53 class mediator
Molecular Function	-
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa03460 Fanconi anemia pathway
Reactome	R-HSA-1640170: Cell Cycle R-HSA-69620: Cell Cycle Checkpoints R-HSA-5693532: DNA Double-Strand Break Repair R-HSA-73894: DNA Repair R-HSA-69481: G2/M Checkpoints R-HSA-69473: G2/M DNA damage checkpoint R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-5693567: HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-5685942: HDR through Homologous Recombination (HRR) R-HSA-5685938: HDR through Single Strand Annealing (SSA) R-HSA-5693579: Homologous DNA Pairing and Strand Exchange R-HSA-5693538: Homology Directed Repair R-HSA-5693616: Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5693607: Processing of DNA double-strand break ends R-HSA-5633007: Regulation of TP53 Activity R-HSA-6804756: Regulation of TP53 Activity through Phosphorylation R-HSA-5693537: Resolution of D-Loop Structures R-HSA-5693568: Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5693554: Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-3700989: Transcriptional Regulation by TP53

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa03460 Fanconi anemia pathway

Reactome

R-HSA-1640170: Cell Cycle
R-HSA-69620: Cell Cycle Checkpoints
R-HSA-5693532: DNA Double-Strand Break Repair
R-HSA-73894: DNA Repair
R-HSA-69481: G2/M Checkpoints
R-HSA-69473: G2/M DNA damage checkpoint
R-HSA-74160: Gene Expression
R-HSA-212436: Generic Transcription Pathway
R-HSA-5693567: HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5685942: HDR through Homologous Recombination (HRR)
R-HSA-5685938: HDR through Single Strand Annealing (SSA)
R-HSA-5693579: Homologous DNA Pairing and Strand Exchange
R-HSA-5693538: Homology Directed Repair
R-HSA-5693616: Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-5693607: Processing of DNA double-strand break ends
R-HSA-5633007: Regulation of TP53 Activity
R-HSA-6804756: Regulation of TP53 Activity through Phosphorylation
R-HSA-5693537: Resolution of D-Loop Structures
R-HSA-5693568: Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693554: Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-3700989: Transcriptional Regulation by TP53

Summary
Symbol	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between RMI1 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 [ TOP ]
There is no record.

Summary
Symbol	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
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 RMI1 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	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
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 RMI1 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	-0.209	0.422
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.212	0.813
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.213	0.78
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.076	0.864
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.25	0.835
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.137	0.933
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.058	0.831
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	-0.086	0.94
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.275	0.82
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.105	0.881
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	0.656	0.499
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.396	7.82e-05

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of RMI1 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	0	0	0	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	0	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	14.8	1.4	13.4	0.0181
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	14.8	1.7	13.1	0.032
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	0	4.8	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	0	7.7	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	0	0	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	0	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	0	3.7	-3.7	0.415
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	0	0	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	7.1	-7.1	0.467
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	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of RMI1. 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	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of RMI1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by RMI1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of RMI1. 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	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of RMI1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between RMI1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	RMI1
Name	RecQ mediated genome instability 1
Aliases	FLJ12888; BLAP75; BLM-Associated Polypeptide, 75 kDa; C9orf76; chromosome 9 open reading frame 76; RMI1, Rec ......
Chromosomal Location	9q22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting RMI1 collected from DrugBank database.

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

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