Human (GRCh37.p13)
Description

deafness, autosomal dominant 5 [Source:HGNC Symbol;Acc:2810]

Gene Synonyms

ICERE-1, ICERE1

Location
About this transcript

This transcript has 10 exons, is annotated with 3 domains and features, is associated with 27466 variant alleles and maps to 276 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000545231.1DFNA5-2022818332aaENSP00000442661.1
 
Protein coding
CCDS47563O60443 -GENCODE basic
ENST00000342947.3DFNA5-0012590496aaENSP00000339587.3
 
Protein coding
CCDS5389O60443 NM_004403.2GENCODE basic
ENST00000419307.1DFNA5-2012265332aaENSP00000401332.1
 
Protein coding
CCDS47563O60443 NM_001127454.1GENCODE basic
ENST00000409970.1DFNA5-0052005332aaENSP00000387119.1
 
Protein coding
CCDS47563O60443 NM_001127453.1GENCODE basic
ENST00000409775.3DFNA5-0031689496aaENSP00000386670.3
 
Protein coding
CCDS5389O60443 -GENCODE basic
ENST00000446822.1DFNA5-009610192aaENSP00000398445.1
 
Protein coding
--CDS 5' incomplete
ENST00000414428.1DFNA5-00757118aaENSP00000413963.1
 
Protein coding
--CDS 3' incomplete
ENST00000415480.1DFNA5-010500155aaENSP00000389874.1
 
Protein coding
--CDS 5' incomplete
ENST00000430096.1DFNA5-01245055aaENSP00000395540.1
 
Protein coding
H7C0L2 -CDS 5' incomplete
ENST00000411476.2DFNA5-008734216aaENSP00000414090.2
 
Nonsense mediated decay
H7C3W1 -CDS 5' incomplete
ENST00000559637.1DFNA5-013557No protein-
 
Processed transcript
---
ENST00000479636.1DFNA5-0064182No protein-
 
Retained intron
---
ENST00000473990.1DFNA5-0021641No protein-
 
Retained intron
---
ENST00000493723.1DFNA5-0041501No protein-
 
Retained intron
---
ENST00000469133.1DFNA5-011583No protein-
 
Retained intron
---
Statistics

Exons: 10, Coding exons: 9, Transcript length: 1,689 bps, Translation length: 496 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60443

CCDS

This transcript is a member of the Human CCDS set: CCDS5389

Version

ENST00000409775.3

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000326887 (version 1)
GENCODE basic gene

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