AutismKB 2.0

Annotation Detail for KIAA0317


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Basic Information Top
Gene Symbol:KIAA0317 ( - )
Gene Full Name: KIAA0317
Band: 14q24.3
Quick LinksEntrez ID:9870; OMIM: NA; Uniprot ID:K0317_HUMAN; ENSEMBL ID: ENSG00000119682; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
131Phosphothreonine(PKC)HMM predict
154Phosphotyrosine(Syk)HMM predict
195Phosphotyrosine(Syk)HMM predict
197N-linkedHMM predict
200N-linkedHMM predict
201N-linkedHMM predict
210N-linkedHMM predict
211Phosphotyrosine(INSR)HMM predict
225Phosphoserine(CK1)HMM predict
287N-linkedHMM predict
303N-linkedHMM predict
306N-linkedHMM predict
310O-linkedHMM predict
322Phosphoserine(ATM)HMM predict
327Phosphoserine(PKG)HMM predict
327Phosphoserine(PKA)HMM predict
337Phosphoserine(IKK)HMM predict
339Phosphoserine(IKK)HMM predict
343Phosphothreonine(CDC2)HMM predict
363Phosphoserine(PKC)HMM predict
368Phosphotyrosine(EGFR)HMM predict
460Phosphoserine(IKK)HMM predict
481N-linkedHMM predict
581Phosphothreonine(PKC)HMM predict
581Phosphothreonine(PKA)HMM predict
597SulfotyrosineHMM predict
631N-linkedHMM predict
649Phosphothreonine(MAPK)HMM predict
759Phosphoserine(ATM)HMM predict
782O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001039479
  • Location:chr14 74197709-74249559
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 74249093 74250034 941 4
P300 T30-glioblastomaGSE21026 74249108 74250045 937 17
TAFII hESGSE17917 74249340 74249817 477 19
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 74197371 74197767 396 141
NRSF JurkatSISSRdata 74197436 74197671 235 156
NRSF-mono JurkatQuESTdata 74197370 74197715 345 167
NRSF-poly JurkatQuESTdata 74197432 74197767 335 110
Oct1 HelaGSE14283 74181693 74181723 30 16002
TFAP2C MCF7GSE21234 74185538 74186070 532 11906
TFAP2C MCF7GSE21234 74188899 74189505 606 8508
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 74248710 74250097 1387 0
H3K4me2 HCT116GSE10453 74248727 74250091 1364 0
H3K4me3 colorectalcancer 74248727 74249351 624 0
H3ac HepG2E 74248727 74249351 624 0
KLF4 hESGSE17917 74249416 74249612 196 0
PHF8 HeLaGSE20725 74248901 74249953 1052 0
RARA MCF7GSE15244 74248879 74249887 1008 0
RARG MCF7GSE15244 74248961 74249860 899 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