AutismKB 2.0

Annotation Detail for PAK1IP1


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Basic Information Top
Gene Symbol:PAK1IP1 ( FLJ20624,MAK11,PIP1,RP11-421M1.5,WDR84,bA421M1.5,hPIP1 )
Gene Full Name: PAK1 interacting protein 1
Band: 6p24.2
Quick LinksEntrez ID:55003; OMIM: 607811; Uniprot ID:PK1IP_HUMAN; ENSEMBL ID: ENSG00000111845; HGNC ID: 20882
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
320Phosphoserine.
323Phosphoserine.
Location(AA) Modifications Resource
320Phosphoserine.Swiss-Prot 53.0
320PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
44Phosphoserine(CAMK2)HMM predict
196Phosphoserine(IKK)HMM predict
312Phosphoserine(PKG)HMM predict
323Phosphoserine(IKK)HMM predict
349Phosphothreonine(PKC)HMM predict
355Phosphothreonine(PKC)HMM predict
362Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017906
  • Location:chr6 10803173-10817953
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 10802500 10803250 750 299
ETS1 JurkatGSE17954 10802460 10803774 1314 57
H3K4me3 colorectalcancer 10801617 10801924 307 1403
H3ac HepG2E 10798234 10798707 473 4703
H3ac HepG2E 10801617 10801924 307 1403
Oct1 HelaGSE14283 10802584 10802617 33 573
P300 T30-glioblastomaGSE21026 10802169 10803750 1581 214
PHF8 293TGSE20725 10802189 10803717 1528 221
PHF8 HeLaGSE20725 10802241 10803643 1402 232
PHF8 Hs68minusFBSGSE20725 10802191 10802920 729 618
Rb shRbQuiescentGSE19898 10789845 10790109 264 13197
USF1 HepG2E 10802561 10803697 1136 45
USF2 HepG2E 10802636 10803662 1026 25
hScc1 BcellGSE12603 10802500 10803288 788 280
hScc1 CdLSGSE12603 10802500 10803479 979 184
hScc1 G2GSE9613 10802500 10803444 944 202
p130 shRbQuiescentGSE19898 10802572 10803015 443 380
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 10802500 10805339 2839 0
H3K4me3 colorectalcancer 10803288 10804191 903 0
H3ac HepG2E 10802500 10805619 3119 0
H3ac HepG2E 10806317 10807109 792 0
Oct1 HelaGSE14283 10807620 10807697 77 0
TAF k562GSE8489 10803180 10804833 1653 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