AutismKB 2.0

Annotation Detail for AIM2


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Basic Information Top
Gene Symbol:AIM2 ( PYHIN4 )
Gene Full Name: absent in melanoma 2
Band: 1q23.1-q23.2
Quick LinksEntrez ID:9447; OMIM: 604578; Uniprot ID:AIM2_HUMAN; ENSEMBL ID: ENSG00000163568; HGNC ID: 357
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004833
  • Location:chr1 157298898-157313270
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 157325713 157325937 224 12555
CTCF CD4SISSRdata 157325713 157325937 224 12555
ER E2-MCF7GSE14664 157322490 157322522 32 9236
NFkBII GM12878GSE19485 157311946 157314803 2857 104
SRF GMOGSE8489 157313940 157314686 746 1043
SRF k562GSE8489 157313940 157315076 1136 1238
STAT1 HeLaGSE12782 157312656 157315375 2719 745
STAT1 HeLaGSE12783 157312754 157315362 2608 788
STAT1 IFNSISSRdata 157312993 157314417 1424 435
p130 SenescentGSE19898 157324627 157324890 263 11488
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 shRbSenescentGSE19898 157295244 157295448 204 3553
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 157308480 157308745 265 0
CTCF CD4SISSRdata 157308480 157308745 265 0
NRSF mAbJurkat 157300626 157300848 222 0
SRF GMOGSE8489 157312899 157313464 565 0
SRF k562GSE8489 157312205 157313464 1259 0
TAF k562GSE8489 157301185 157301950 765 0
hScc1 BcellGSE12603 157308307 157308716 409 0
hScc1 CdLSGSE12603 157308236 157308931 695 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