EMBL-EBI User Survey 2024

Do data resources managed by EMBL-EBI and our collaborators make a difference to your work?

Please take 10 minutes to fill in our annual user survey, and help us make the case for why sustaining open data resources is critical for life sciences research.

Survey link: https://www.surveymonkey.com/r/HJKYKTT?channel=[webpage]

Human (GRCh37.p13)
Description

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

Gene Synonyms

ICERE-1, ICERE1

Location

Chromosome 7: 24,737,972-24,809,244 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 15 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000342947.3DFNA5-0012590496aaENSP00000339587.3
 
Protein coding
CCDS5389O60443 NM_004403.2Ensembl CanonicalGENCODE basic
ENST00000545231.1DFNA5-2022818332aaENSP00000442661.1
 
Protein coding
CCDS47563O60443 -GENCODE 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
---