Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 9 [Source:HGNC Symbol;Acc:HGNC:30000]

Gene Synonyms

B1, PTHB1

Location

Chromosome 7: 33,109,557-33,877,180 forward strand.

GRCh38:CM000669.2

About this gene

This gene has 29 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000242067.11BBS9-2013996887aaENSP00000242067.6
 
Protein coding
CCDS43566Q3SYG4-1 NM_198428.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P3TSL:1
ENST00000355070.6BBS9-2034004882aaENSP00000347182.2
 
Protein coding
CCDS34618Q3SYG4-7 -GENCODE basicAPPRIS ALT1TSL:5
ENST00000396127.6BBS9-2043914852aaENSP00000379433.2
 
Protein coding
CCDS47572Q3SYG4-4 -GENCODE basicTSL:5
ENST00000350941.7BBS9-2023899847aaENSP00000313122.6
 
Protein coding
CCDS5441Q3SYG4-2 -GENCODE basicTSL:5
ENST00000671871.1BBS9-2173822928aaENSP00000499908.1
 
Protein coding
A0A5F9ZGX9 -GENCODE basic
ENST00000673056.1BBS9-2253456908aaENSP00000499989.1
 
Protein coding
CCDS94079A0A5F9ZH14 -GENCODE basic
ENST00000671890.1BBS9-2183243842aaENSP00000500146.1
 
Protein coding
CCDS94081A0A5F9ZH74 -GENCODE basic
ENST00000671952.1BBS9-2193237871aaENSP00000500239.1
 
Protein coding
CCDS94080A0A5F9ZHE7 -GENCODE basic
ENST00000671963.1BBS9-2203169765aaENSP00000499904.1
 
Protein coding
CCDS94082A0A5F9ZGY2 -GENCODE basic
ENST00000672717.1BBS9-2223123852aaENSP00000499835.1
 
Protein coding
CCDS47572Q3SYG4-4 -GENCODE basic
ENST00000673431.1BBS9-2282994795aaENSP00000500552.1
 
Protein coding
A0A5F9ZHP5 -CDS 3' incomplete
ENST00000434373.3BBS9-2081982454aaENSP00000388114.1
 
Protein coding
H7BZ69 -TSL:1CDS 5' incomplete
ENST00000425508.6BBS9-2051252310aaENSP00000405151.2
 
Protein coding
Q3SYG4-5 -GENCODE basicTSL:1
ENST00000432983.5BBS9-20661397aaENSP00000415794.1
 
Protein coding
C9JJ08 -TSL:4CDS 3' incomplete
ENST00000672973.1BBS9-2243773851aaENSP00000500017.1
 
Nonsense mediated decay
A0A5F9ZH37 --
ENST00000433714.5BBS9-2073705460aaENSP00000412159.1
 
Nonsense mediated decay
F8WCG5 -TSL:1
ENST00000673462.1BBS9-2293482481aaENSP00000499848.1
 
Nonsense mediated decay
Q3SYG4-6 --
ENST00000673219.1BBS9-226328588aaENSP00000499968.1
 
Nonsense mediated decay
A0A5F9ZH06 --
ENST00000673230.1BBS9-2273240No protein-
 
Protein coding CDS not defined
---
ENST00000672453.1BBS9-2212832No protein-
 
Protein coding CDS not defined
---
ENST00000672758.1BBS9-2231349No protein-
 
Protein coding CDS not defined
---
ENST00000482941.1BBS9-211707No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000496029.1BBS9-214650No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000442858.1BBS9-209596No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000627264.1BBS9-216549No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000465037.5BBS9-210535No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000489708.1BBS9-212459No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000498189.1BBS9-215614No protein-
 
Retained intron
--TSL:2
ENST00000495426.1BBS9-213481No protein-
 
Retained intron
--TSL:3