AutismKB 2.0

Annotation Detail for OTX1


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Basic Information Top
Gene Symbol:OTX1 ( FLJ38361,MGC15736 )
Gene Full Name: orthodenticle homeobox 1
Band: 2p15
Quick LinksEntrez ID:5013; OMIM: 600036; Uniprot ID:OTX1_HUMAN; ENSEMBL ID: ENSG00000115507; HGNC ID: 8521
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
34Phosphothreonine(MAPK)HMM predict
62Phosphotyrosine(EGFR)HMM predict
99Phosphoserine(IKK)HMM predict
103Phosphothreonine(PKC)HMM predict
113Phosphoserine(CDC2)HMM predict
113PhosphoserineHMM predict
118Phosphoserine(PKG)HMM predict
118Phosphoserine(CK2)HMM predict
119Phosphoserine(CK1)HMM predict
121Phosphoserine(IKK)HMM predict
121Phosphoserine(CK1)HMM predict
124O-linkedHMM predict
128Phosphothreonine(MAPK)HMM predict
135Phosphoserine(IKK)HMM predict
138Phosphoserine(CK1)HMM predict
144Phosphoserine(CK1)HMM predict
145Phosphoserine(IKK)HMM predict
166O-linkedHMM predict
166O-linkedHMM predict
167Phosphoserine(IKK)HMM predict
167O-linkedHMM predict
169Phosphoserine(CK1)HMM predict
170O-linkedHMM predict
175O-linkedHMM predict
181O-linkedHMM predict
186O-linkedHMM predict
186Phosphoserine(IKK)HMM predict
190O-linkedHMM predict
192Phosphoserine(IKK)HMM predict
216O-linkedHMM predict
235Phosphotyrosine(INSR)HMM predict
237Phosphothreonine(MAPK)HMM predict
237Phosphothreonine(CDK)HMM predict
287Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014562
  • Location:chr2 63131468-63137806
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63130851 63131701 850 193
H3K27me3 colorectalcancer 63129439 63130758 1319 1370
H3K4me3 colorectalcancer 63130024 63130815 791 1049
PHF8 HeLaGSE20725 63130667 63131923 1256 174
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63139644 63139816 172 1924
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63136346 63136974 628 0
Fos K562GSE19551 63131276 63131783 507 0
H3ac HepG2E 63131400 63132118 718 0
HIF1 HypoHepG2 63131512 63132487 975 0
hScc1 BcellGSE12603 63136130 63136843 713 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