Gene: bbs12 ENSDARG00000016112

Description

Bardet-Biedl syndrome 12 [Source:NCBI gene (formerly Entrezgene);Acc:570583]

Location

GRCz11:CM002898.2

About this gene

This gene has 2 transcripts (splice variants), 166 orthologues, 12 paralogues and is associated with 5 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSDART00000188008.1	bbs12-202	5976	763aa	ENSDARP00000152249.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A2R8RT44	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, APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant. 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 P2,
ENSDART00000007091.8	bbs12-201	2274	757aa	ENSDARP00000012805.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0AB32T654	APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. 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 ALT2,

Summary