Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
- Paralogues
- Strains
  - Gene tree
  - Orthologues
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Ontologies
- GO: Anatomical entity
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
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ID History
- Gene history

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Gene: Bbs1 ENSMUSG00000006464

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Description

Bardet-Biedl syndrome 1 [Source:MGI Symbol;Acc:MGI:1277215]

Gene Synonyms

D19Ertd609e

Location

Chromosome 19: 4,936,906-4,956,656 reverse strand.

GRCm39:CM001012.3

About this gene

This gene has 8 transcripts (splice variants), 189 orthologues and is associated with 60 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	Flags
ENSMUST00000053506.8	Bbs1-201	5602	593aa	ENSMUSP00000055321.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS29442	Q3V3N7	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, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. 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:1,
ENSMUST00000238170.2	Bbs1-208	1841	452aa	ENSMUSP00000157830.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A494B9Z5	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENSMUST00000237085.2	Bbs1-205	1549	496aa	ENSMUSP00000157393.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A494B8X5	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENSMUST00000237362.2	Bbs1-206	1993	164aa	ENSMUSP00000157728.2	Nonsense mediated decay		A0A494B9R9	-
ENSMUST00000236538.2	Bbs1-204	643	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-
ENSMUST00000237638.2	Bbs1-207	2019	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-
ENSMUST00000235498.2	Bbs1-202	1244	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-
ENSMUST00000236150.2	Bbs1-203	667	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-

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Summary

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