AutismKB 2.0

Annotation Detail for ATIC


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Basic Information Top
Gene Symbol:ATIC ( AICAR,AICARFT,FLJ93545,IMPCHASE,PURH )
Gene Full Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Band: 2q35
Quick LinksEntrez ID:471; OMIM: 601731; Uniprot ID:PUR9_HUMAN; ENSEMBL ID: ENSG00000138363; HGNC ID: 794
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
104Phosphotyrosine.
199N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
23N-linkedHMM predict
112Phosphoserine(CDC2)HMM predict
143Phosphothreonine(PKC)HMM predict
151Phosphotyrosine(Syk)HMM predict
151Phosphotyrosine(INSR)HMM predict
163Phosphoserine(CK1)HMM predict
215Phosphothreonine(MAPK)HMM predict
264Phosphoserine(PKC)HMM predict
362Phosphotyrosine(INSR)HMM predict
371Phosphotyrosine(Jak)HMM predict
387Phosphoserine(ATM)HMM predict
494Phosphotyrosine(Jak)HMM predict
554Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004044
  • Location:chr2 215885080-215922721
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 215884619 215884881 262 331
Myc K562GSE19551 215872398 215872851 453 12456
TFAP2C MCF7GSE21234 215869183 215869574 391 15702
USF1 HepG2E 215884619 215885080 461 231
USF2 HepG2E 215884619 215885115 496 214
hScc1 G2GSE9613 215884860 215885270 410 16
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF HelaGSE8489 215925617 215926435 818 3305
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 215884881 215885338 457 0
H3ac HepG2E 215885432 215885617 185 0
H3ac HepG2E 215886065 215886835 770 0
Myc K562GSE19551 215884631 215885752 1121 0
Myc hESGSE17917 215884947 215885437 490 0
PHF8 HeLaGSE20725 215884604 215885866 1262 0
TAF k562GSE8489 215886065 215887227 1162 0
USF1 HepG2E 215886065 215886835 770 0
hScc1 BcellGSE12603 215901252 215901616 364 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