Human (GRCh38.p14)
Description

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

Gene Synonyms

DKFZP762I194

Location

Chromosome 2: 169,479,480-169,506,655 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 6 transcripts (splice variants), 193 orthologues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000295240.8BBS5-2013159341aaENSP00000295240.3
 
Protein coding
CCDS2233Q8N3I7-1 NM_152384.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000392663.6BBS5-2023107320aaENSP00000376431.2
 
Protein coding
Q8N3I7-2 -GENCODE basicTSL:1
ENST00000443151.1BBS5-20358353aaENSP00000406182.1
 
Nonsense mediated decay
F8WBR7 -TSL:5
ENST00000472667.1BBS5-2052705No protein-
 
Retained intron
--TSL:2
ENST00000469980.1BBS5-204593No protein-
 
Retained intron
--TSL:4
ENST00000475571.1BBS5-206566No protein-
 
Retained intron
--TSL:4