Gene: RASA1 ENSG00000145715

Description

RAS p21 protein activator (GTPase activating protein) 1 [Source:HGNC Symbol;Acc:9871]

Gene Synonyms

CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP

Location

Chromosome 5: 86,563,705-86,687,748 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 6 transcripts (splice variants), 9 paralogues and is associated with 6 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000274376.6	RASA1-001	3752	1047aa	ENSP00000274376.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34200	B4DTL8 P20936	NM_002890.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000456692.2	RASA1-002	3776	870aa	ENSP00000411221.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47243	B4DTL8 P20936	NM_022650.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000512763.1	RASA1-004	3060	880aa	ENSP00000422008.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTL2 B4DTL8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000506290.1	RASA1-003	3009	881aa	ENSP00000420905.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTL8 E9PGC0	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000515800.2	RASA1-005	4979	539aa	ENSP00000423395.2	Nonsense mediated decay		Q68CU6	-	-
ENST00000509953.1	RASA1-007	802	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: RASA1 ENSG00000145715

Summary