Gene: SHANK1 ENSG00000161681

Description

SH3 and multiple ankyrin repeat domains 1 [Source:HGNC Symbol;Acc:15474]

Gene Synonyms

SPANK-1, SSTRIP, synamon

Location

Chromosome 19: 51,165,084-51,222,707 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 8 transcripts (splice variants), 2 paralogues and is associated with 2 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000293441.1	SHANK1-001	6643	2161aa	ENSP00000293441.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12799	Q9Y566	NM_016148.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000391814.1	SHANK1-002	6622	2169aa	ENSP00000375690.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H9KV90	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000359082.3	SHANK1-008	6459	2152aa	ENSP00000351984.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9Y566	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000391813.1	SHANK1-003	4785	1548aa	ENSP00000375689.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9Y566	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000468654.1	SHANK1-006	668	183aa	ENSP00000469719.1	Nonsense mediated decay		M0QYB5	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000483981.2	SHANK1-007	422	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000483128.1	SHANK1-004	780	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000461154.1	SHANK1-005	558	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: SHANK1 ENSG00000161681

Summary