AutismKB 2.0

Annotation Detail for USH1C


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Basic Information Top
Gene Symbol:USH1C ( AIE-75,DFNB18,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,ush1cpst )
Gene Full Name: Usher syndrome 1C (autosomal recessive, severe)
Band: 11p15.1
Quick LinksEntrez ID:10083; OMIM: 605242; Uniprot ID:USH1C_HUMAN; ENSEMBL ID: ENSG00000006611; HGNC ID: 12597
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
78Phosphothreonine(MAPK)HMM predict
175Phosphoserine(CDC2)HMM predict
175Phosphoserine(IKK)HMM predict
201Phosphoserine(CDC2)HMM predict
543LysineHMM predict
545Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_153676
  • Location:chr11 17472035-17522538
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 17529127 17529162 35 6606
TFAP2C MCF7GSE21234 17525107 17525600 493 2815
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17476685 17476824 139 0
CTCF CD4GSE12889 17482748 17483013 265 0
CTCF CD4GSE12889 17506340 17506538 198 0
CTCF CD4SISSRdata 17476685 17476824 139 0
CTCF CD4SISSRdata 17482748 17483013 265 0
CTCF CD4SISSRdata 17506340 17506538 198 0
CTCF HelaGSE12889 17506361 17506683 322 0
NRSF pAbJurkat 17481165 17481498 333 0
hScc1 BcellGSE12603 17482321 17483758 1437 0
hScc1 BcellGSE12603 17505869 17506969 1100 0
hScc1 BcellGSE12603 17513288 17513659 371 0
hScc1 CdLSGSE12603 17482592 17483197 605 0
hScc1 CdLSGSE12603 17505626 17506719 1093 0
hScc1 G2GSE9613 17482321 17483197 876 0
hScc1 G2GSE9613 17506311 17506942 631 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018