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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. USH1C, Usher syndrome 1C (autosomal recessive, severe)
Sequence ID:NM_005709
NM_153676
RefSeqGene ID:NG_011883
Entrez Gene ID:10083
Ensembl ID:ENSG00000006611

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
DEAFNESS, AUTOSOMAL RECESSIVE18A 
USHER SYNDROME, TYPE 1C 

Cytogenetic Location (from UniGene)

Cytogenetic Location:11p14.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:11: 17515443 - 17555057

 Exon Info From UCSC:
NM_005709
NM_153676

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4867369Full LengthBC016057Usher syndrome 1C (autosomal recessive, severe)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_710142  NP_005700  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_005709 NP_005700 Q9Y6N9 PDZ
NM_153676 NP_710142   PDZ

Related Sequences

 
mRNAGenPeptSwissProt
AF039699 AAC18048 Q9Y6N9
AF039700 AAC18049 Q9Y6N9
BC016057 AAH16057 Q9Y6N9
JF432227 ADZ15444  
AB006955 BAA81739 Q9Y6N9
AB018687 BAA81740 Q9Y6N9
AK024943 BAB15040 Q9H758
AK290788 BAF83477 Q9Y6N9
AK300936 BAG62565 B4DV53
BK000147 DAA00086 Q9Y6N9

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens USH1C NP_710142 M.musculus Ush1c 72088 Gene Info NP_710143 93

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta