AutismKB 2.0

Annotation Detail for WAS


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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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile7 / 55556125
adult42 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia17 / 95842177
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma16 / 71755222
non-neoplasia0 / 972500 
normal62 / 336030718
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood26 / 123478210
bone5 / 7165569
bone marrow3 / 4880161
brain4 / 11009893
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine4 / 23447217
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph15 / 44270338
lymph node11 / 91610120
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen5 / 5395292
stomach3 / 9661931
testis0 / 3304420 
thymus2 / 8113124
thyroid3 / 4747363
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205400_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.3
Adipocyte5.75
AdrenalCortex7.1
Adrenalgland7.25
Amygdala6
Appendix6.55
AtrioventricularNode5.3
BDCA4+_DentriticCells9.15
Bonemarrow10.45
BronchialEpithelialCells5.65
CD105+_Endothelial5.9
CD14+_Monocytes67.2
CD19+_BCells(neg._sel.)14
CD33+_Myeloid11.65
CD34+8.9
CD4+_Tcells9.05
CD56+_NKCells21.3
CD71+_EarlyErythroid5.7
CD8+_Tcells5.8
CardiacMyocytes8.5
Caudatenucleus5.35
Cerebellum4.9
CerebellumPeduncles11.75
CiliaryGanglion4.65
CingulateCortex9.4
Colorectaladenocarcinoma5.85
DorsalRootGanglion5.05
FetalThyroid5.8
Fetalbrain6.5
Fetalliver10.45
Fetallung4.6
GlobusPallidus4.6
Heart8.45
Hypothalamus6.2
Kidney5.25
Leukemia_chronicMyelogenousK-5626.5
Leukemia_promyelocytic-HL-607.85
Leukemialymphoblastic(MOLT-4)12.55
Liver8.2
Lung6.5
Lymphnode6.75
Lymphoma_burkitts(Daudi)22.65
Lymphoma_burkitts(Raji)8.95
MedullaOblongata5.5
OccipitalLobe5.4
OlfactoryBulb4.65
Ovary4.25
Pancreas4.95
PancreaticIslet7.2
ParietalLobe6.85
Pituitary7.05
Placenta5.75
Pons5.85
PrefrontalCortex6.65
Prostate6.35
Salivarygland6.55
SkeletalMuscle7.75
Skin5
SmoothMuscle6.55
Spinalcord6.45
SubthalamicNucleus5.65
SuperiorCervicalGanglion8.7
TemporalLobe6.75
Testis5.1
TestisGermCell4.7
TestisIntersitial4.25
TestisLeydigCell5.95
TestisSeminiferousTubule4.75
Thalamus6.15
Thymus8.1
Thyroid6.45
Tongue6.15
Tonsil8.5
Trachea4.95
TrigeminalGanglion6.8
Uterus4.1
UterusCorpus5.5
WholeBlood27.25
Wholebrain4.25
colon5.85
pineal_day6.82
pineal_night6.54
retina7.15
small_intestine5.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14007_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.38 ± 0.99
Basal Forebrain2.01 ± 0.24
Basal Part of Pons1.68 ± 0.31
Cerebellar Cortex1.77 ± 0.68
Cerebellar Nuclei2.22 ± 0.68
Claustrum2.85 ± 0.83
Epithalamus1.81 ± 0.79
Frontal Lobe1.78 ± 0.57
Globus Pallidus2.48 ± 0.25
Hypothalamus2.07 ± 0.59
Insula1.86 ± 0.48
Limbic Lobe1.99 ± 0.59
Mesencephalon2.15 ± 0.71
Myelencephalon1.99 ± 0.65
Occipital Lobe2.03 ± 0.56
Parietal Lobe2.11 ± 0.86
Pontine Tegmentum2.05 ± 0.67
Striatum2.22 ± 0.55
Subthalamus2.14 ± 0.7
Temporal Lobe1.89 ± 0.59
Thalamus2.01 ± 0.71
White Matter2.55 ± 0.38
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
WASP_HUMAN_13 21 13 33 GAPAVQQNIPSTLLQDHENQR PRIDE
WASP_HUMAN_213 12 213 224 GLPAPGPSPADK PRIDE
WASP_HUMAN_273 15 273 287 AGISEAQLTDAETSK PRIDE
WASP_HUMAN_338 19 338 356 SGPLPPVPLGIAPPPPTPR PRIDE
WASP_HUMAN_364 13 364 376 GGPPPPPPPATGR PRIDE

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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