Description

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

Synonyms

CMTX, CMTX1, CX32

Location
INSDC coordinates

chromosome:GRCh38:CM000685.2:71215194:71225516:1

About this gene

This gene has 4 transcripts (splice variants), 75 orthologues, 8 paralogues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
GJB1-001ENST000003740221904283aaENSP00000363134
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14408P08034 NM_001097642
NP_001091111
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

GJB1-002ENST000003617261637283aaENSP00000354900
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14408P08034 NM_000166
NP_000157
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

GJB1-003ENST000003740291587283aaENSP00000363141
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14408P08034 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

GJB1-004ENST0000044758148484aaENSP00000407223
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JWU8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays