Description

Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:HGNC:966]

Synonyms

FLJ23590

Location

Chromosome 11: 66,510,606-66,533,627 forward strand.

GRCh38:CM000673.2

About this gene

This gene has 25 transcripts (splice variants), 57 orthologues, 1 paralogue, is a member of 5 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BBS1-001ENST000003183123423593aaENSP00000317469
 
Protein coding
CCDS8142Q8NFJ9 NM_024649
NP_078925
TSL:1GENCODE basicAPPRIS P1
BBS1-201ENST00000630659193485aaENSP00000486455
 
Protein coding
---TSL:5GENCODE basic
BBS1-009ENST000003939941790446aaENSP00000377563
 
Protein coding
-Q8NFJ9 -TSL:1GENCODE basic
BBS1-006ENST000004557481552496aaENSP00000405764
 
Protein coding
-E7EQH1 -TSL:2GENCODE basic
BBS1-014ENST00000525809601192aaENSP00000431187
 
Protein coding
-E9PMB7 -CDS 3' incompleteTSL:5
BBS1-013ENST0000052681558454aaENSP00000436860
 
Protein coding
-E9PQD9 -CDS 3' incompleteTSL:3
BBS1-019ENST0000052470533367aaENSP00000436927
 
Protein coding
-E9PPR3 -CDS 3' incompleteTSL:3
BBS1-003ENST00000526760358585aaENSP00000432140
 
Nonsense mediated decay
-E9PJ28 -TSL:2
BBS1-004ENST00000533557104385aaENSP00000434619
 
Nonsense mediated decay
-E9PJ28 -TSL:2
BBS1-012ENST00000527251103455aaENSP00000434360
 
Nonsense mediated decay
-E9PQK2 -TSL:3
BBS1-018ENST00000532908100185aaENSP00000431866
 
Nonsense mediated decay
-E9PJ28 -TSL:5
BBS1-011ENST00000533644910164aaENSP00000436073
 
Nonsense mediated decay
-E9PR55 -TSL:3
BBS1-020ENST0000052445889155aaENSP00000436195
 
Nonsense mediated decay
-E9PQK2 -TSL:5
BBS1-015ENST0000052603582285aaENSP00000434197
 
Nonsense mediated decay
-E9PJ28 -TSL:5
BBS1-008ENST000005297661590No protein-
 
Processed transcript
---TSL:5
BBS1-021ENST00000529953604No protein-
 
Processed transcript
---TSL:4
BBS1-007ENST000005299553437No protein-
 
Retained intron
---TSL:1
BBS1-022ENST00000533430844No protein-
 
Retained intron
---TSL:3
BBS1-017ENST00000524907828No protein-
 
Retained intron
---TSL:2
BBS1-026ENST00000527959734No protein-
 
Retained intron
---TSL:2
BBS1-016ENST00000534730627No protein-
 
Retained intron
---TSL:2
BBS1-023ENST00000532283590No protein-
 
Retained intron
---TSL:4
BBS1-024ENST00000524884572No protein-
 
Retained intron
---TSL:4
BBS1-025ENST00000529895560No protein-
 
Retained intron
---TSL:2
BBS1-010ENST00000528543384No protein-
 
Retained intron
---TSL:5

Gene-based displays