AutismKB 2.0

Annotation Detail for ITCH


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Basic Information Top
Gene Symbol:ITCH ( AIF4,AIP4,NAPP1,dJ468O1.1 )
Gene Full Name: itchy E3 ubiquitin protein ligase homolog (mouse)
Band: 20q11.22
Quick LinksEntrez ID:83737; OMIM: 606409; Uniprot ID:ITCH_HUMAN; ENSEMBL ID: ENSG00000078747; HGNC ID: 13890
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
240Phosphoserine; by MAPK8 (By similarity).
263Phosphothreonine; by MAPK8 (By
273Phosphoserine; by MAPK8 (By similarity).
420Phosphotyrosine; by FYN.
Location(AA) Modifications Resource
420Phosphotyrosine (Fyn)Phospho.ELM 6.0
Location(AA) Modification Resource
6Phosphoserine(CK1)HMM predict
6Phosphoserine(ATM)HMM predict
6Phosphoserine(IKK)HMM predict
40Phosphoserine(CDC2)HMM predict
58N-linkedHMM predict
59N-linkedHMM predict
61N-linkedHMM predict
74Phosphothreonine(MAPK)HMM predict
74Phosphothreonine(CDK)HMM predict
186Phosphoserine(ATM)HMM predict
210Phosphoserine(CK2)HMM predict
219N-linkedHMM predict
236Phosphoserine(PKG)HMM predict
238N-linkedHMM predict
239N-linkedHMM predict
240Phosphoserine(CDC2)HMM predict
257O-linkedHMM predict
263Phosphothreonine(CDC2)HMM predict
269Phosphoserine(IKK)HMM predict
271N-linkedHMM predict
273Phosphoserine(IKK)HMM predict
273O-linkedHMM predict
273PhosphoserineHMM predict
273Phosphoserine(CDC2)HMM predict
275O-linkedHMM predict
277O-linkedHMM predict
278Phosphoserine(CK1)HMM predict
283Phosphoserine(IKK)HMM predict
283Phosphoserine(CK1)HMM predict
283Phosphoserine(CK2)HMM predict
284O-linkedHMM predict
287Phosphoserine(IKK)HMM predict
287O-linkedHMM predict
291O-linkedHMM predict
293O-linkedHMM predict
293O-linkedHMM predict
295O-linkedHMM predict
297O-linkedHMM predict
298O-linkedHMM predict
353Phosphothreonine(PKC)HMM predict
375SulfotyrosineHMM predict
384O-linkedHMM predict
405Phosphoserine(ATM)HMM predict
471Phosphoserine(ATM)HMM predict
504Phosphothreonine(PKA)HMM predict
589Phosphotyrosine(INSR)HMM predict
629Phosphotyrosine(INSR)HMM predict
737Phosphotyrosine(EGFR)HMM predict
737Phosphotyrosine(INSR)HMM predict
805Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031483
  • Location:chr20 32414744-32562857
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32414600 32414822 222 34
CTCF CD4SISSRdata 32414600 32414822 222 34
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32527883 32528081 198 0
CTCF CD4SISSRdata 32527883 32528081 198 0
ER MCF7GSE19013 32524844 32525188 344 0
ETS1 JurkatGSE17954 32414271 32415310 1039 0
Fos K562GSE19551 32442326 32442837 511 0
Fos K562GSE19551 32523986 32524490 504 0
H3K4me3 colorectalcancer 32415479 32416010 531 0
H3ac HepG2E 32415444 32416010 566 0
H3ac HepG2E 32417377 32417660 283 0
P300 T30-glioblastomaGSE21026 32442004 32443111 1107 0
PHF8 293TGSE20725 32414267 32415406 1139 0
PHF8 HeLaGSE20725 32414444 32415809 1365 0
PHF8 Hs68minusFBSGSE20725 32415166 32416004 838 0
PHF8 Hs68plusFBSGSE20725 32414561 32416178 1617 0
RARA MCF7GSE15244 32442529 32442764 235 0
TFAP2C MCF7GSE21234 32524811 32525071 260 0
hScc1 BcellGSE12603 32414499 32415444 945 0
hScc1 BcellGSE12603 32527654 32528043 389 0
p130 QuiescentGSE19898 32414910 32415124 214 0
p130 shRbSenescentGSE19898 32414596 32414937 341 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-106b hsa-mir-106b 7 19096009
hsa-miR-106b* hsa-mir-106b 7 19096009
hsa-miR-320a hsa-mir-320a 8 19096009
hsa-miR-320b hsa-mir-320b-1 1 19096009
hsa-miR-320b hsa-mir-320b-2 1 19096009
hsa-miR-320c hsa-mir-320c-1 18 19096009
hsa-miR-320c hsa-mir-320c-2 18 19096009
hsa-miR-320d hsa-mir-320d-1 13 19096009
hsa-miR-320d hsa-mir-320d-2 X 19096009
No data
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