Gene: GJB1 ENSG00000169562

Description

gap junction protein, beta 1, 32kDa [Source:HGNC Symbol;Acc:4283]

Gene Synonyms

CMTX, CMTX1, CX32

Location

GRCh37:CM000685.1

About this gene

This gene has 4 transcripts (splice variants), 17 paralogues and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000374022.3	GJB1-001	1904	283aa	ENSP00000363134.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14408	C9JWU8 P08034	NM_001097642.2	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000361726.6	GJB1-002	1637	283aa	ENSP00000354900.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14408	C9JWU8 P08034	NM_000166.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000374029.1	GJB1-003	1587	283aa	ENSP00000363141.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14408	C9JWU8 P08034	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000447581.1	GJB1-004	484	84aa	ENSP00000407223.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JWU8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

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