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: 12 Coding exons: 12 Transcript length: 1,040 bps Translation length: 318 residues

Ensembl version

ENST00000526181.1

Type

Putative protein coding

Prediction Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:

Transcript-based displays