Transcript: ENST00000314218.3 BBS12-001

Description

Bardet-Biedl syndrome 12 [Source:HGNC Symbol;Acc:26648]

Gene Synonyms

C4orf24, FLJ35630, FLJ41559

Location

About this transcript

This transcript has 2 exons, is annotated with 11 domains and features, is associated with 5379 variant alleles and maps to 283 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000542236.1	BBS12-201	3431	710aa	ENSP00000438273.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3728	C9J8H7 Q6ZW61	NM_001178007.1	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,
ENST00000314218.3	BBS12-001	3244	710aa	ENSP00000319062.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3728	C9J8H7 Q6ZW61	NM_152618.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000433287.1	BBS12-002	859	191aa	ENSP00000398912.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J8H7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Summary

Statistics

Exons: 2, Coding exons: 1, Transcript length: 3,244 bps, Translation length: 710 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q6ZW61

CCDS

This transcript is a member of the Human CCDS set: CCDS3728

Version

ENST00000314218.3

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000256710 (version 1)

GENCODE basic gene

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