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

GRCh37:CM000667.1

About this gene

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

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000512763.1	RASA1-004	3060	880aa	ENSP00000422008.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTL2 B4DTL8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506290.1	RASA1-003	3009	881aa	ENSP00000420905.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTL8 E9PGC0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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		-	-	-

Summary