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

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Gene: BBS5 ENSG00000163093

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Description

Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]

Gene Synonyms

DKFZp762I194

Location

Chromosome 2: 170,335,688-170,382,432 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 7 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000295240.3	BBS5-001	3475	341aa	ENSP00000295240.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2233	Q8N3I7	NM_152384.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000392663.2	BBS5-002	3107	320aa	ENSP00000376431.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q8N3I7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000554017.1	BBS5-201	1935	544aa	ENSP00000452313.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PBE3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000443151.1	BBS5-005	583	53aa	ENSP00000406182.1	Nonsense mediated decay		F8WBR7	-	-
ENST00000472667.1	BBS5-003	2705	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000469980.1	BBS5-004	593	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000475571.1	BBS5-006	566	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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