Transcript: ENST00000526313.1 USH1C-002

Description

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

Gene Synonyms

AIE-75, AIE75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, harmonin, ush1cpst

Location

Chromosome 11: 17,515,442-17,565,949 reverse strand.

About this transcript

This transcript has 20 exons, is annotated with 16 domains and features, is associated with 23388 variant alleles and maps to 644 oligo probes.

Gene

This transcript is a product of gene ENSG00000006611.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000005226.7	USH1C-006	2700	899aa	ENSP00000005226.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7825	Q9Y6N9	NM_153676.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000527720.1	USH1C-005	2278	521aa	ENSP00000432944.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9Y6N9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000318024.4	USH1C-001	2237	552aa	ENSP00000317018.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31438	Q9Y6N9	NM_005709.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000527020.1	USH1C-003	2159	533aa	ENSP00000436934.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9Y6N9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000526181.1	USH1C-008	1040	317aa	ENSP00000437128.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PNW1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000526313.1	USH1C-002	2149	403aa	ENSP00000432236.1	Nonsense mediated decay		Q9Y6N9	-	-
ENST00000529563.1	USH1C-009	942	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000530700.1	USH1C-011	403	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000527551.1	USH1C-010	371	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000534556.1	USH1C-012	244	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 20, Coding exons: 15, Transcript length: 2,149 bps, Translation length: 403 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y6N9

Version

ENST00000526313.1

Type

Nonsense mediated decay

Annotation 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:	OTTHUMT00000389145 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000526313.1 USH1C-002

Summary