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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term RAB3GAP2:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000118873	RAB3GAP2	0	0	24	ENSG00000118873	ENST00000237724		RAB3 GTPase activating protein subunit 2 (non-catalytic) [Source:HGNC Symbol;Acc:17168]	1	220321635	220445796	-1	q41	220369526	220445756	RAB3GAP2	RAB3GAP2-009	HGNC Symbol	HGNC transcript name	10	37.8	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	25782	17168	RAB3GAP2		27511

MSeqDR Master Exome Data Set M1: 164 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	1	220321667	T	-AAG	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs3217443	-	-	lod=204:538	-	-	-	het	34
2	1	220321667	T	-AAG	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs3217443	-	-	lod=204:538	-	-	-	hom	5
3	1	220321667	T	-AAG	ENST00000483278	ENSG00000118873	220321635	220445796	-	RAB3GAP2	-1	-	c.1818_1820del	p.L607NA	non-syn	rs3217443	-	-	lod=204:538	-	-	-	het	34
4	1	220321667	T	-AAG	ENST00000483278	ENSG00000118873	220321635	220445796	-	RAB3GAP2	-1	-	c.1818_1820del	p.L607NA	non-syn	rs3217443	-	-	lod=204:538	-	-	-	hom	5
5	1	220321725	T	-TACAG	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	lod=204:538	-	-	-	het	2
6	1	220321725	T	-TACAG	ENST00000483278	ENSG00000118873	220321635	220445796	-	RAB3GAP2	-1	-	c.1758_1762del	p.K588NA	non-syn	NA	-	-	lod=204:538	-	-	-	het	2
7	1	220321899	T	C	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	1	220321913	A	-TGAAGT	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs143081562	-	-	-	-	-	-	het	13
9	1	220322080	C	-T	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	1	220322080	C	+T	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs143756119	-	-	-	-	-	-	het	7
11	1	220322080	C	+T	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs143756119	-	-	-	-	-	-	hom	2
12	1	220322131	A	+TATC	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	1	220322143	C	A	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	1	220322194	T	C	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs115637988	0.0101	-	-	-	-	-	het	1
15	1	220322197	A	+AGTT	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
16	1	220322266	T	C	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs139079455	0.00647	-	-	-	-	-	het	10
17	1	220322772	G	A	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs144988111	0.00093	-	-	-	-	-	het	7
18	1	220322863	G	+A	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	1	220322898	A	+TGT	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs143194915	-	-	-	-	-	-	het	128
20	1	220322898	A	+TGT	ENST00000358951	ENSG00000118873	220321635	220445796	ENSP00000351832	RAB3GAP2	-1	RBGPR_HUMAN	-	-	3'_UTR	rs143194915	-	-	-	-	-	-	hom	8

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding RAB3GAP2 1:220321635..220445796 region Gbrowse