AutismKB 2.0

Annotation Detail for PDZD4


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Basic Information Top
Gene Symbol:PDZD4 ( FLJ34125,KIAA1444,LU1,PDZK4,PDZRN4L )
Gene Full Name: PDZ domain containing 4
Band: Xq28
Quick LinksEntrez ID:57595; OMIM: 300634; Uniprot ID:PDZD4_HUMAN; ENSEMBL ID: ENSG00000067840; HGNC ID: 21167
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
15Phosphotyrosine(SRC)HMM predict
15Phosphotyrosine(Syk)HMM predict
30Phosphoserine(ATM)HMM predict
53Phosphoserine(CDK)HMM predict
106Phosphotyrosine(Syk)HMM predict
106Phosphotyrosine(Jak)HMM predict
106SulfotyrosineHMM predict
107Phosphotyrosine(Syk)HMM predict
107SulfotyrosineHMM predict
107Phosphotyrosine(Jak)HMM predict
107Phosphotyrosine(Jak)HMM predict
128Phosphotyrosine(INSR)HMM predict
128Phosphotyrosine(EGFR)HMM predict
128Phosphotyrosine(SRC)HMM predict
128Phosphotyrosine(Syk)HMM predict
159Phosphotyrosine(INSR)HMM predict
216Phosphoserine(ATM)HMM predict
216Phosphoserine(IKK)HMM predict
236PhosphoserineHMM predict
236Phosphoserine(CK2)HMM predict
249Phosphoserine(CDC2)HMM predict
249Phosphoserine(PKA)HMM predict
273Phosphoserine(ATM)HMM predict
292Phosphoserine(CK1)HMM predict
293Phosphoserine(CK1)HMM predict
304O-linkedHMM predict
305O-linkedHMM predict
305O-linkedHMM predict
308Phosphothreonine(MAPK)HMM predict
308O-linkedHMM predict
354Phosphotyrosine(Jak)HMM predict
354Phosphotyrosine(Syk)HMM predict
439Phosphoserine(CK1)HMM predict
441Phosphotyrosine(INSR)HMM predict
441Phosphotyrosine(SRC)HMM predict
490Phosphoserine(CDC2)HMM predict
490Phosphoserine(CDK)HMM predict
503N-linkedHMM predict
505Phosphothreonine(CDC2)HMM predict
523Phosphoserine(CDC2)HMM predict
523PhosphoserineHMM predict
728Phosphothreonine(PKC)HMM predict
764LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032512
  • Location:chrX 152720816-152749196
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152749734 152750189 455 765
NRSF JurkatGSE13047 152751254 152751815 561 2338
NRSF-mono JurkatQuESTdata 152751191 152751776 585 2287
NRSF-poly JurkatQuESTdata 152751299 152751743 444 2325
hScc1 G2GSE9613 152749841 152750268 427 858
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152718856 152719329 473 1724
TFAP2C MCF7GSE21234 152720340 152720880 540 207
hScc1 G2GSE9613 152718921 152719364 443 1674
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152721576 152721832 256 0
CTCF G2GSE9613 152722129 152722765 636 0
CTCF G2GSE9613 152725274 152726243 969 0
CTCF G2GSE9613 152727222 152727582 360 0
CTCF G2GSE9613 152728604 152729198 594 0
CTCF G2GSE9613 152730886 152731336 450 0
CTCF G2GSE9613 152731781 152732241 460 0
CTCF G2GSE9613 152734058 152735566 1508 0
CTCF G2GSE9613 152736354 152736519 165 0
CTCF G2GSE9613 152737388 152738668 1280 0
CTCF G2GSE9613 152740345 152740530 185 0
CTCF G2GSE9613 152746544 152748900 2356 0
hScc1 BcellGSE12603 152722278 152722604 326 0
hScc1 BcellGSE12603 152733456 152734625 1169 0
hScc1 BcellGSE12603 152737305 152738266 961 0
hScc1 G2GSE9613 152721204 152721683 479 0
hScc1 G2GSE9613 152722059 152722765 706 0
hScc1 G2GSE9613 152724784 152726243 1459 0
hScc1 G2GSE9613 152734058 152734983 925 0
hScc1 G2GSE9613 152736354 152736519 165 0
hScc1 G2GSE9613 152737388 152737872 484 0
hScc1 G2GSE9613 152738266 152738668 402 0
hScc1 G2GSE9613 152746544 152749209 2665 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


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