Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Molecular function
- GO: Biological process
- GO: Cellular component
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: bbs12 ENSDARG00000016112

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Description

Bardet-Biedl syndrome 12 [Source:ZFIN;Acc:ZDB-GENE-070626-3]

Location

Chromosome 14: 1,351,214-1,366,544 forward strand.

GRCz11:CM002898.2

About this gene

This gene has 2 transcripts (splice variants), 165 orthologues, 12 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

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 P5: Where the APPRIS core modules are unable to choose a clear principal variant and none of the candidate variants are annotated by CCDS, APPRIS selects the longest of the candidate isoforms as 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 P5,
ENSDART00000007091.8	bbs12-201	2274	757aa	ENSDARP00000012805.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F1QBF1	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,

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Summary

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