AutismKB 2.0

Annotation Detail for PIGQ


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Basic Information Top
Gene Symbol:PIGQ ( GPI1,MGC12693,c407A10.1,hGPI1 )
Gene Full Name: phosphatidylinositol glycan anchor biosynthesis, class Q
Band: 16p13.3
Quick LinksEntrez ID:9091; OMIM: 605754; Uniprot ID:PIGQ_HUMAN; ENSEMBL ID: ENSG00000007541; HGNC ID: 14135
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
67S-palmitoylHMM predict
106Phosphoserine(IKK)HMM predict
139Phosphoserine(ATM)HMM predict
155O-linkedHMM predict
158O-linkedHMM predict
158O-linkedHMM predict
209Phosphoserine(PKB)HMM predict
209Phosphoserine(PKA)HMM predict
278Phosphothreonine(PKC)HMM predict
504S-palmitoylHMM predict
685C-linkedHMM predict
710Phosphoserine(CDC2)HMM predict
710Phosphoserine(MAPK)HMM predict
710Phosphoserine(CDK)HMM predict
710Phosphoserine(ATM)HMM predict
710O-linkedHMM predict
733Phosphothreonine(MAPK)HMM predict
737O-linkedHMM predict
742O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004204
  • Location:chr16 560004-574108
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 559792 560081 289 68
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 574567 575650 1083 1000
NRSF pAbJurkat 574528 575754 1226 1033
TFAP2C MCF7GSE21234 575297 576098 801 1589
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 569039 569351 312 0
CTCF CD4SISSRdata 569039 569351 312 0
CTCF HelaGSE12889 569144 569419 275 0
CTCF G2GSE9613 562219 562360 141 0
CTCF G2GSE9613 562857 563230 373 0
CTCF G2GSE9613 563887 564843 956 0
CTCF G2GSE9613 565431 565676 245 0
CTCF G2GSE9613 566082 566302 220 0
CTCF G2GSE9613 568920 569439 519 0
CTCF G2GSE9613 569742 570267 525 0
CTCF G2GSE9613 572579 573009 430 0
ETS1 JurkatGSE17954 559676 560366 690 0
GABP k562GSE8489 560769 560996 227 0
GABP k562GSE8489 561392 562607 1215 0
Gata1 K562GSE18868 569027 569547 520 0
Gata2 K562GSE18868 569031 569490 459 0
Myc K562GSE19551 569022 569506 484 0
NRSF pAbJurkat 562640 563230 590 0
TAF HelaGSE8489 560769 560996 227 0
hScc1 BcellGSE12603 563707 565132 1425 0
hScc1 BcellGSE12603 569742 570150 408 0
p130 SenescentGSE19898 560580 560849 269 0
p130 shRbSenescentGSE19898 560649 560993 344 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