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 11 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
USH1C-006ENST000000052262700899 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7825Q9Y6N9 USH1C-006 NM_153676
NP_710142
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI2APPRIS candidate principal isoform (longest CCDS) [01-09-2014]
Glossary entry for APPRIS
APPRIS website
USH1C-001ENST000003180242237552 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS31438Q9Y6N9 USH1C-001 NM_005709
NP_005700
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
USH1C-003ENST000005270202159533 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS73265Q9Y6N9 USH1C-003 NM_001297764
NP_001284693
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
USH1C-005ENST000005277202278521 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q9Y6N9 USH1C-005 -TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
USH1C-008ENST000005261811040318 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PNW1 USH1C-008 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

USH1C-007ENST000006248111194No protein
 
TEC
-USH1C-007 -
USH1C-002ENST000005263132149403 aa
 
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-002 -TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

USH1C-009ENST00000529563942No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-USH1C-009 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

USH1C-011ENST00000530700403No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-USH1C-011 -TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

USH1C-010ENST00000527551371No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-USH1C-010 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

USH1C-012ENST00000534556244No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-USH1C-012 -TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Statistics

Exons: 4 Coding exons: 0 Transcript length: 403 bps

Transcript Support Level

3

Ensembl version

ENST00000530700.1

Type

Known processed transcript

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