AutismKB 2.0

Annotation Detail for C17orf75


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Basic Information Top
Gene Symbol:C17orf75 ( NJMU-R1 )
Gene Full Name: chromosome 17 open reading frame 75
Band: 17q11.2
Quick LinksEntrez ID:64149; OMIM: NA; Uniprot ID:NJMU_HUMAN; ENSEMBL ID: ENSG00000108666; HGNC ID: 30173
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
395Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
18Phosphoserine(CK1)HMM predict
19Phosphoserine(CK1)HMM predict
24Phosphoserine(CK2)HMM predict
59Phosphoserine(IKK)HMM predict
59Phosphoserine(CDC2)HMM predict
61O-linkedHMM predict
63O-linkedHMM predict
67Phosphothreonine(CDK)HMM predict
146N-linkedHMM predict
248Phosphoserine(PKA)HMM predict
283Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022344
  • Location:chr17 27682501-27693301
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 27693090 27693622 532 55
TAFII hESGSE17917 27693137 27693661 524 98
p130 SenescentGSE19898 27693098 27693579 481 37
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 27692113 27692999 886 0
Oct1 HelaGSE14283 27692538 27692573 35 0
PHF8 HeLaGSE20725 27692413 27693635 1222 0
Rb SenescentGSE19898 27693105 27693461 356 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