AutismKB 2.0

Annotation Detail for WAS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:WAS ( IMD2,THC,THC1,WASP )
Gene Full Name: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Band: Xp11.23
Quick LinksEntrez ID:7454; OMIM: 300392; Uniprot ID:WASP_HUMAN; ENSEMBL ID: ENSG00000015285; HGNC ID: 12731
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
291Phosphotyrosine.
483Phosphoserine; by CK2.
484Phosphoserine; by CK2.
Location(AA) Modifications Resource
290Phosphotyrosine (BTK;HCK;CK2)Phospho.ELM 6.0
291Phosphotyrosine.Swiss-Prot 53.0
483Phosphoserine (by CK2).Swiss-Prot 53.0
483Phosphoserine (CK2 alpha)Phospho.ELM 6.0
484Phosphoserine (by CK2).Swiss-Prot 53.0
Location(AA) Modification Resource
13MethylarginineHMM predict
164Phosphothreonine(MAPK)HMM predict
164Phosphothreonine(CDC2)HMM predict
164O-linkedHMM predict
320O-linkedHMM predict
321MethylarginineHMM predict
357MethylarginineHMM predict
364MethylarginineHMM predict
378O-linkedHMM predict
405O-linkedHMM predict
405O-linkedHMM predict
406O-linkedHMM predict
406O-linkedHMM predict
445N-linkedHMM predict
454O-linkedHMM predict
463O-linkedHMM predict
463O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000377
  • Location:chrX 48427152-48434758
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48419338 48420690 1352 7139
CTCF G2GSE9613 48424918 48425370 452 2009
Fos K562GSE19551 48419452 48420189 737 7332
H3ac HepG2E 48419042 48419447 405 7908
H3ac HepG2E 48420091 48420725 634 6745
Myc K562GSE19551 48423729 48424181 452 3198
Oct1 HelaGSE14283 48412508 48412547 39 14625
Oct1 HelaGSE14283 48413315 48413346 31 13822
Oct1 HelaGSE14283 48419955 48419991 36 7180
Oct1 HelaGSE14283 48420453 48420482 29 6685
PHF8 293TGSE20725 48419063 48420649 1586 7297
PHF8 HeLaGSE20725 48419048 48420471 1423 7393
PHF8 Hs68minusFBSGSE20725 48419134 48419785 651 7693
PHF8 Hs68plusFBSGSE20725 48419043 48420482 1439 7390
Rb QuiescentGSE19898 48419572 48419743 171 7495
STAT1 HeLaGSE12782 48423166 48425539 2373 2800
STAT1 HeLaGSE12783 48423267 48425869 2602 2585
STAT1 IFNSISSRdata 48423280 48424629 1349 3198
hScc1 G2GSE9613 48419806 48420125 319 7187
hScc1 G2GSE9613 48424918 48425370 452 2009
p130 SenescentGSE19898 48419547 48419876 329 7441
p130 shRbQuiescentGSE19898 48419284 48419726 442 7648
p130 shRbSenescentGSE19898 48419537 48419879 342 7445
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48427076 48427694 618 0
CTCF G2GSE9613 48428834 48429004 170 0
Oct1 HelaGSE14283 48427198 48427226 28 0
hScc1 BcellGSE12603 48431957 48432182 225 0
hScc1 BcellGSE12603 48434368 48434547 179 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