AutismKB 2.0

Annotation Detail for KIAA1715


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Basic Information Top
Gene Symbol:KIAA1715 ( DKFZp686G1442,LNP,MGC102862,Ul,ulnaless )
Gene Full Name: KIAA1715
Band: 2q31
Quick LinksEntrez ID:80856; OMIM: 610236; Uniprot ID:LNP_HUMAN; ENSEMBL ID: ENSG00000144320; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
177Phosphoserine.
182Phosphoserine.
194Phosphoserine.
213Phosphothreonine.
227Phosphoserine.
321Phosphoserine.
414Phosphoserine (By similarity).
421Phosphoserine.
424Phosphoserine.
Location(AA) Modifications Resource
414Phosphoserine (By similarity).Swiss-Prot 53.0
421Phosphoserine.Swiss-Prot 53.0
421PhosphoserinePhospho.ELM 6.0
424Phosphoserine.Swiss-Prot 53.0
424PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
10Phosphothreonine(PKC)HMM predict
129Phosphotyrosine(Syk)HMM predict
175N-linkedHMM predict
177O-linkedHMM predict
177Phosphoserine(CDC2)HMM predict
194Phosphoserine(ATM)HMM predict
194Phosphoserine(CDK)HMM predict
194Phosphoserine(CDC2)HMM predict
194O-linkedHMM predict
213Phosphothreonine(PKA)HMM predict
227O-linkedHMM predict
227Phosphoserine(CAMK2)HMM predict
293Phosphotyrosine(EGFR)HMM predict
333O-linkedHMM predict
333Phosphoserine(ATM)HMM predict
384Phosphoserine(CK2)HMM predict
386Phosphoserine(CK2)HMM predict
386PhosphoserineHMM predict
401Phosphoserine(CK2)HMM predict
406N-linkedHMM predict
414Phosphoserine(IKK)HMM predict
421Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_030650
  • Location:chr2 176498655-176575263
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 176575511 176576094 583 539
PHF8 Hs68minusFBSGSE20725 176575153 176575931 778 279
TAF k562GSE8489 176575511 176577869 2358 1427
USF1 HepG2E 176573900 176578114 4214 744
USF2 HepG2E 176574173 176576678 2505 162
p130 shRbSenescentGSE19898 176575027 176575511 484 6
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 176481410 176481436 26 17233
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 176574837 176575511 674 0
H3K4me2 HCT116GSE10453 176574025 176574837 812 0
H3K4me3 colorectalcancer 176574234 176574837 603 0
H3ac HepG2E 176573975 176574979 1004 0
HIF1 HypoHepG2 176574201 176575511 1310 0
Oct1 H2O2-HelaGSE14283 176539227 176539256 29 0
PHF8 293TGSE20725 176574533 176575735 1202 0
PHF8 HeLaGSE20725 176574616 176575602 986 0
TAF k562GSE8489 176573717 176574837 1120 0
hScc1 BcellGSE12603 176574911 176575474 563 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