AutismKB 2.0

Annotation Detail for PAFAH1B2


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Basic Information Top
Gene Symbol:PAFAH1B2 ( - )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
Band: 11q23
Quick LinksEntrez ID:5049; OMIM: 602508; Uniprot ID:PA1B2_HUMAN; ENSEMBL ID: ENSG00000168092; HGNC ID: 8575
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
64Phosphoserine(CDK)HMM predict
202Phosphotyrosine(INSR)HMM predict
220Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002572
  • Location:chr11 116520249-116544023
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 116515100 116515144 44 5128
ER Fulvestrant-MCF7GSE14664 116515101 116515134 33 5132
FOXA1 DLD1GSE12801 116515530 116515766 236 4602
GABP k562GSE8489 116519389 116520202 813 454
H3ac HepG2E 116513601 116514653 1052 6123
P300 T30-glioblastomaGSE21026 116513017 116513733 716 6875
RNAII Tamoxifen-MCF7GSE14664 116515098 116515136 38 5133
TFAP2C MCF7GSE21234 116513073 116513583 510 6922
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 116548540 116549104 564 4799
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 116520893 116522004 1111 0
H3K4me3 colorectalcancer 116521613 116522004 391 0
H3ac HepG2E 116520851 116522004 1153 0
Oct1 HelaGSE14283 116525328 116525387 59 0
PHF8 293TGSE20725 116519684 116521223 1539 0
PHF8 HeLaGSE20725 116519818 116521144 1326 0
PolII HeLaGSE12783 116519366 116521610 2244 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1077 Unknown pSILAC miR-16 PAFAH1B2 down 50-25% 18668040
1260 Unknown pSILAC miR-30 PAFAH1B2 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000168092 n_a n_a n_a "lymphocyte, muscle cell" "malignant tumour, carcinoma, leukaemia"
ENSG00000168092 n_a n_a n_a "lymphocyte, muscle cell" "malignant tumour, carcinoma, leukaemia"
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