Human (GRCh38.p14)
Description

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

Location
About this transcript

This transcript has 16 exons, is annotated with 31 domains and features, is associated with 24176 variant alleles and maps to 552 oligo probes.

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
Statistics

Exons: 16, Coding exons: 16, Transcript length: 2,467 bps, Translation length: 519 residues

MANE

This MANE Select transcript contains ENSP00000268057 and matches to NM_033028.5 and NP_149017.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q96RK4

CCDS

This transcript is a member of the Human CCDS set: CCDS10246

Transcript Support Level (TSL)

TSL:1

Version

ENST00000268057.9

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.