Human (GRCh38.p14)
Description

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

Gene Synonyms

B1, PTHB1

Location
About this transcript

This transcript has 21 exons, is annotated with 8 domains and features, is associated with 197822 variant alleles and maps to 848 oligo probes.

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
Statistics

Exons: 21, Coding exons: 20, Transcript length: 3,899 bps, Translation length: 847 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q3SYG4

CCDS

This transcript is a member of the Human CCDS set: CCDS5441

Transcript Support Level (TSL)

TSL:5

Version

ENST00000350941.7

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.