Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:HGNC:969]

Location

Chromosome 15: 72,686,179-72,738,475 forward strand.

GRCh38:CM000677.2

About this gene

This gene has 18 transcripts (splice variants), 209 orthologues, 14 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000268057.9BBS4-2012467519aaENSP00000268057.4
 
Protein coding
CCDS10246Q96RK4-1 NM_033028.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000395205.6BBS4-2022450347aaENSP00000378631.3
 
Protein coding
CCDS58377Q96RK4-3 -GENCODE basicTSL:1
ENST00000569338.5BBS4-217843281aaENSP00000456758.1
 
Protein coding
H3BSL2 -TSL:5CDS 5' and 3' incomplete
ENST00000566829.1BBS4-211551141aaENSP00000455958.1
 
Protein coding
H3BQV7 -TSL:4CDS 3' incomplete
ENST00000566197.1BBS4-209541180aaENSP00000457479.1
 
Protein coding
H3BU58 -TSL:3CDS 5' and 3' incomplete
ENST00000566400.5BBS4-210205520aaENSP00000456759.1
 
Nonsense mediated decay
H3BRY9 -TSL:1
ENST00000567279.5BBS4-213187667aaENSP00000456664.1
 
Nonsense mediated decay
H3BSE2 -TSL:2
ENST00000562084.5BBS4-204186477aaENSP00000454718.1
 
Nonsense mediated decay
H3BN76 -TSL:1
ENST00000561914.5BBS4-203777103aaENSP00000457795.1
 
Nonsense mediated decay
H3BUU1 -TSL:5
ENST00000565160.5BBS4-208681142aaENSP00000455412.1
 
Nonsense mediated decay
H3BPP7 -TSL:3
ENST00000569440.5BBS4-21857933aaENSP00000457958.1
 
Nonsense mediated decay
H3BV56 -TSL:4
ENST00000566938.5BBS4-21256320aaENSP00000456463.1
 
Nonsense mediated decay
H3BRY9 -TSL:4
ENST00000563600.5BBS4-20655750aaENSP00000457753.1
 
Nonsense mediated decay
H3BUQ7 -TSL:4
ENST00000564239.1BBS4-207527No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000569001.1BBS4-215349No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000562219.1BBS4-2051004No protein-
 
Retained intron
--TSL:1
ENST00000568535.1BBS4-214781No protein-
 
Retained intron
--TSL:2
ENST00000569151.1BBS4-216272No protein-
 
Retained intron
--TSL:3