Transcript: ENST00000650064.2 BBS10-201

Description

Bardet-Biedl syndrome 10 [Source:HGNC Symbol;Acc:HGNC:26291]

Gene Synonyms

C12ORF58, FLJ23560

Location

About this transcript

This transcript has 2 exons, is annotated with 11 domains and features, is associated with 2319 variant alleles and maps to 263 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000650064.2	BBS10-201	3568	723aa	ENSP00000497413.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9014	Q8TAM1	NM_024685.4	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,

Summary

Statistics

Exons: 2, Coding exons: 2, Transcript length: 3,568 bps, Translation length: 723 residues

MANE

This MANE Select transcript contains ENSP00000497413 and matches to NM_024685.4 and NP_078961.3

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8TAM1

CCDS

This transcript is a member of the Human CCDS set: CCDS9014

Version

ENST00000650064.2

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.