Gene: USH1C ENSG00000006611

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.

GRCh37:CM000673.1

About this gene

This gene has 10 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.

Transcripts

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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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		-	-	-

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Gene: USH1C ENSG00000006611

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Gene: USH1C ENSG00000006611

Summary