AutismKB 2.0

Annotation Detail for PAFAH1B1


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Basic Information Top
Gene Symbol:PAFAH1B1 ( LIS1,LIS2,MDCR,MDS,PAFAH )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Band: 17p13.3
Quick LinksEntrez ID:5048; OMIM: 601545; Uniprot ID:LIS1_HUMAN; ENSEMBL ID: ENSG00000007168; HGNC ID: 8574
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
28Phosphotyrosine (By similarity).
53N6-acetyllysine.
225Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
24Phosphotyrosine(Syk)HMM predict
24Phosphotyrosine(INSR)HMM predict
24Phosphotyrosine(EGFR)HMM predict
28Phosphotyrosine(Syk)HMM predict
28Phosphotyrosine(SRC)HMM predict
109Phosphoserine(CDC2)HMM predict
109Phosphoserine(CDK)HMM predict
127Phosphoserine(IKK)HMM predict
194N-linkedHMM predict
290Phosphotyrosine(SRC)HMM predict
291Phosphoserine(CK1)HMM predict
291O-linkedHMM predict
304Phosphoserine(PKG)HMM predict
394Phosphotyrosine(Jak)HMM predict
397ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000430
  • Location:chr17 2443685-2535637
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2443405 2443606 201 180
CTCF CD4SISSRdata 2443405 2443606 201 180
CTCF G2GSE9613 2443252 2444038 786 41
H3ac HepG2E 2442891 2443179 288 651
PHF8 293TGSE20725 2442908 2444368 1460 48
TAF HelaGSE8489 2442891 2443223 332 629
hScc1 BcellGSE12603 2443103 2444038 935 115
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
VDR GM10861-stimGSE22484 2534420 2540556 6136 1851
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2525415 2525587 172 0
CTCF CD4SISSRdata 2525415 2525587 172 0
ER MCF7GSE19013 2458513 2459032 519 0
FoxA1 MCF7MACSdata 2533984 2534224 240 0
H3K4me3 colorectalcancer 2444795 2445435 640 0
H3ac HepG2E 2445049 2446131 1082 0
PHF8 HeLaGSE20725 2442885 2444770 1885 0
PHF8 Hs68minusFBSGSE20725 2442888 2444559 1671 0
TAF k562GSE8489 2444976 2445545 569 0
hScc1 BcellGSE12603 2463223 2463671 448 0
hScc1 CdLSGSE12603 2525347 2525542 195 0
p130 SenescentGSE19898 2443733 2443943 210 0
p130 shRbSenescentGSE19898 2444761 2445184 423 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