Human (GRCh38.p14)
Description

USH1 protein network component harmonin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:24058]

Gene Synonyms

AIEBP, FLJ38709, MCC2

Location
About this transcript

This transcript has 13 exons, is annotated with 22 domains and features, is associated with 8253 variant alleles and maps to 496 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000252597.8USHBP1-2013289703aaENSP00000252597.2
 
Protein coding
CCDS12353Q8N6Y0-1 NM_031941.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000431146.6USHBP1-2032136639aaENSP00000407902.2
 
Protein coding
CCDS77256G8JLM4 -GENCODE basicTSL:2
ENST00000594190.5USHBP1-204577121aaENSP00000473108.1
 
Protein coding
M0R3B1 -TSL:4CDS 3' incomplete
ENST00000598309.1USHBP1-20854932aaENSP00000471680.1
 
Protein coding
M0R172 -TSL:4CDS 3' incomplete
ENST00000597928.5USHBP1-207359868aaENSP00000469562.1
 
Nonsense mediated decay
Q8N6Y0-2 -TSL:2
ENST00000324554.9USHBP1-2022402383aaENSP00000324174.5
 
Nonsense mediated decay
Q8N8Y1 -TSL:2
ENST00000598570.5USHBP1-209588No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000595993.5USHBP1-205578No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000600286.1USHBP1-210598No protein-
 
Retained intron
--TSL:4
ENST00000596436.5USHBP1-206487No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 13, Coding exons: 12, Transcript length: 3,289 bps, Translation length: 703 residues

MANE

This MANE Select transcript contains ENSP00000252597 and matches to NM_031941.4 and NP_114147.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8N6Y0

CCDS

This transcript is a member of the Human CCDS set: CCDS12353

Transcript Support Level (TSL)

TSL:1

Version

ENST00000252597.8

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.