Description

Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:HGNC:12597]

Synonyms

AIE-75, DFNB18, harmonin, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C

Location
Gene

This transcript is a product of gene ENSG00000006611

This gene has 10 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
USH1C-006ENST000000052262700 bp899 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7825Q9Y6N9 NM_153676
NP_710142
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
USH1C-001ENST000003180242237 bp552 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS31438Q9Y6N9 NM_005709
NP_005700
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
USH1C-005ENST000005277202278 bp521 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q9Y6N9 -GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
USH1C-003ENST000005270202159 bp533 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q9Y6N9 -GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
USH1C-008ENST000005261811040 bp318 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PNW1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
USH1C-002ENST000005263132149 bp403 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-Q9Y6N9 -
USH1C-009ENST00000529563942 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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USH1C-011ENST00000530700403 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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USH1C-010ENST00000527551371 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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USH1C-012ENST00000534556244 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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Statistics

Exons: 27 Coding exons: 27 Transcript length: 2,700 bps Translation length: 899 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS7825

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y6N9

Ensembl version

ENST00000005226.8

Type

Known protein coding

Prediction Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
Annotation Attributes

dotter confirmed [Definitions]

GENCODE basic gene

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

Transcript-based displays