Transcript: ENST00000318024.4 USH1C-001

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: 17,515,442-17,565,963 reverse strand.

About this transcript

This transcript has 21 exons, is annotated with 21 domains and features, is associated with 23399 variant alleles and maps to 578 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: 21, Coding exons: 21, Transcript length: 2,237 bps, Translation length: 552 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y6N9

CCDS

This transcript is a member of the Human CCDS set: CCDS31438

Version

ENST00000318024.4

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000389146 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000318024.4 USH1C-001

Summary