AutismKB 2.0

Annotation Detail for INTU


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Basic Information Top
Gene Symbol:INTU ( FLJ41326,INT,KIAA1284,PDZD6,PDZK6 )
Gene Full Name: inturned planar cell polarity effector homolog (Drosophila)
Band: 4q28.1
Quick LinksEntrez ID:27152; OMIM: 610621; Uniprot ID:PDZD6_HUMAN; ENSEMBL ID: ENSG00000164066; HGNC ID: 29239
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9Phosphoserine(IKK)HMM predict
9Phosphoserine(CK1)HMM predict
12Phosphoserine(CK1)HMM predict
22Phosphoserine(IKK)HMM predict
22Phosphoserine(ATM)HMM predict
22Phosphoserine(CK2)HMM predict
29Phosphotyrosine(Syk)HMM predict
29SulfotyrosineHMM predict
29Phosphotyrosine(INSR)HMM predict
36Phosphoserine(CK2)HMM predict
36Phosphoserine(CK1)HMM predict
41Phosphotyrosine(INSR)HMM predict
42Phosphoserine(IKK)HMM predict
46Phosphoserine(CK2)HMM predict
46Phosphoserine(CK1)HMM predict
46Phosphoserine(ATM)HMM predict
48Phosphotyrosine(EGFR)HMM predict
48SulfotyrosineHMM predict
48Phosphotyrosine(INSR)HMM predict
48Phosphotyrosine(Syk)HMM predict
71PhosphoserineHMM predict
71Phosphoserine(CK2)HMM predict
101Phosphotyrosine(Syk)HMM predict
272Phosphoserine(CK1)HMM predict
272Phosphoserine(PKA)HMM predict
281Phosphoserine(IKK)HMM predict
321Phosphoserine(CK1)HMM predict
356N-linkedHMM predict
363O-linkedHMM predict
364O-linkedHMM predict
410Phosphothreonine(PKC)HMM predict
450O-linkedHMM predict
451O-linkedHMM predict
453Phosphoserine(IKK)HMM predict
453Phosphoserine(MAPK)HMM predict
505Phosphotyrosine(Syk)HMM predict
505SulfotyrosineHMM predict
505Phosphotyrosine(Jak)HMM predict
506PhosphotyrosineHMM predict
506Phosphotyrosine(Syk)HMM predict
648Phosphoserine(PKA)HMM predict
649Phosphoserine(CDK)HMM predict
649Phosphoserine(CDC2)HMM predict
670Phosphoserine(CK1)HMM predict
670Phosphoserine(IKK)HMM predict
670O-linkedHMM predict
684O-linkedHMM predict
733Phosphothreonine(CDC2)HMM predict
743Phosphoserine(ATM)HMM predict
764Phosphothreonine(PKA)HMM predict
864PhosphoserineHMM predict
864Phosphoserine(ATM)HMM predict
889N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015693
  • Location:chr4 128773569-128857379
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 128763486 128763956 470 9849
Oct1 HelaGSE14283 128755713 128755744 31 17841
USF1 HepG2E 128771912 128774942 3030 143
hScc1 BcellGSE12603 128763618 128763747 129 9887
p130 shRbQuiescentGSE19898 128763795 128764305 510 9520
p130 shRbQuiescentGSE19898 128773073 128773956 883 55
p130 shRbSenescentGSE19898 128773212 128773840 628 44
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 128800868 128801199 331 0
ER E2-MCF7GSE14664 128776896 128776934 38 0
ER E2-MCF7GSE14664 128784562 128784603 41 0
ER Fulvestrant-MCF7GSE14664 128784566 128784601 35 0
ER Fulvestrant-MCF7GSE14664 128803190 128803228 38 0
H3ac HepG2E 128773596 128774290 694 0
Nanog ESGSE20650 128796343 128796740 397 0
Oct1 H2O2-HelaGSE14283 128774271 128774306 35 0
Oct1 H2O2-HelaGSE14283 128799982 128800009 27 0
Oct1 HelaGSE14283 128777425 128777458 33 0
Oct1 HelaGSE14283 128784567 128784604 37 0
Oct1 HelaGSE14283 128797934 128797975 41 0
Oct1 HelaGSE14283 128798662 128798692 30 0
Oct1 HelaGSE14283 128799982 128800008 26 0
PolII HeLaGSE12783 128773230 128774145 915 0
USF2 HepG2E 128773065 128774290 1225 0
p130 QuiescentGSE19898 128773734 128773881 147 0
p130 SenescentGSE19898 128773193 128774224 1031 0
p63 keratinocytesGSE17611 128796673 128797574 901 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
20182 mRNA PDZK6 chr4 128911724 128995535 174 EST chr4 128994514 128995471Sense/Antisense (SA) pairs

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


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