Transcript: ENST00000578689.2 GJD3-201

Description

gap junction protein delta 3 [Source:HGNC Symbol;Acc:HGNC:19147]

Gene Synonyms

CX30.2, CX31.9, GJA11, GJC1

Location

Chromosome 17: 40,360,652-40,364,737 reverse strand.

About this transcript

This transcript has 1 exon, is annotated with 23 domains and features, is associated with 2058 variant alleles and maps to 334 oligo probes.

Gene

This transcript is a product of gene ENSG00000183153.7 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000578689.2	GJD3-201	4086	294aa	ENSP00000463752.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS58547	Q8N144-1	NM_152219.4	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, 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, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL NA: A transcript that was not analysed for TSL. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:NA,

Summary

Statistics

Exons: 1, Coding exons: 1, Transcript length: 4,086 bps, Translation length: 294 residues

MANE

This MANE Select transcript contains ENSP00000463752 and matches to NM_152219.4 and NP_689343.3

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8N144

CCDS

This transcript is a member of the Human CCDS set: CCDS58547

Transcript Support Level (TSL)

TSL:NA

Version

ENST00000578689.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript: ENST00000578689.2 GJD3-201

Summary

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Transcript: ENST00000578689.2 GJD3-201

Summary

About Us

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