AutismKB 2.0

Annotation Detail for WHSC1


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Basic Information Top
Gene Symbol:WHSC1 ( FLJ23286,KIAA1090,MGC176638,MMSET,NSD2,REIIBP,TRX5,WHS )
Gene Full Name: Wolf-Hirschhorn syndrome candidate 1
Band: 4p16.3
Quick LinksEntrez ID:7468; OMIM: 602952; Uniprot ID:NSD2_HUMAN; ENSEMBL ID: ENSG00000109685; HGNC ID:
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 body10 / 70761141
blastocyst16 / 62319256
fetus87 / 564012154
neonate5 / 31097160
infant0 / 236200 
juvenile4 / 5555671
adult128 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor13 / 114246113
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor29 / 263845109
glioma21 / 106883196
head and neck tumor4 / 13630229
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor6 / 9635962
lung tumor7 / 10312767
lymphoma12 / 71755167
non-neoplasia4 / 9725041
normal375 / 3360307111
ovarian tumor4 / 7668252
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer7 / 10268068
retinoblastoma5 / 46356107
skin tumor3 / 12494924
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood9 / 12347872
bone10 / 71655139
bone marrow1 / 4880120
brain84 / 110098976
cervix6 / 48171124
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue42 / 215722194
esophagus1 / 2020949
eye24 / 211054113
heart5 / 8962655
intestine27 / 234472115
kidney18 / 21177784
larynx3 / 24145124
liver11 / 20774352
lung22 / 33697465
lymph7 / 44270158
lymph node107 / 916101167
mammary gland5 / 15327132
mouth0 / 670520 
muscle7 / 10771564
nerve2 / 15768126
ovary6 / 10205158
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta8 / 28082528
prostate8 / 18934542
salivary gland0 / 201550 
skin6 / 21057428
spleen2 / 5395237
stomach10 / 96619103
testis23 / 33044269
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus18 / 23287877
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209052_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts93.8
Adipocyte3.3
AdrenalCortex3.45
Adrenalgland2.8
Amygdala3.55
Appendix3.35
AtrioventricularNode2.5
BDCA4+_DentriticCells7.6
Bonemarrow3.35
BronchialEpithelialCells3.35
CD105+_Endothelial30.8
CD14+_Monocytes3.6
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.55
CD34+15.75
CD4+_Tcells3.75
CD56+_NKCells5.5
CD71+_EarlyErythroid148.05
CD8+_Tcells3.35
CardiacMyocytes5.8
Caudatenucleus3.05
Cerebellum2.7
CerebellumPeduncles3.75
CiliaryGanglion2.4
CingulateCortex3.4
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.65
FetalThyroid3.25
Fetalbrain3.35
Fetalliver3
Fetallung2.8
GlobusPallidus2.4
Heart4.35
Hypothalamus3.65
Kidney2.65
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)60.7
Liver4.45
Lung3.75
Lymphnode2.85
Lymphoma_burkitts(Daudi)4.3
Lymphoma_burkitts(Raji)4.8
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.65
Ovary2.2
Pancreas2.7
PancreaticIslet3.6
ParietalLobe3.5
Pituitary3.9
Placenta3.5
Pons3.2
PrefrontalCortex4.2
Prostate4
Salivarygland2.7
SkeletalMuscle3.9
Skin2.6
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.75
TemporalLobe3.05
Testis4.4
TestisGermCell2.95
TestisIntersitial2.85
TestisLeydigCell3.35
TestisSeminiferousTubule2.9
Thalamus3.45
Thymus3.95
Thyroid4.2
Tongue3.25
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.35
Uterus2.8
UterusCorpus3
WholeBlood3.65
Wholebrain2.9
colon3.4
pineal_day4.22
pineal_night4.16
retina4.1
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P307328
  • 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
Amygdala6.23 ± 0.41
Basal Forebrain6.25 ± 0.15
Basal Part of Pons6.34 ± 0.33
Cerebellar Cortex6.23 ± 0.21
Cerebellar Nuclei6.7 ± 0.28
Claustrum6.24 ± 0.5
Epithalamus6.6 ± 0.31
Frontal Lobe6.43 ± 0.32
Globus Pallidus6.62 ± 0.23
Hypothalamus6.43 ± 0.24
Insula6.47 ± 0.2
Limbic Lobe6.25 ± 0.36
Mesencephalon6.38 ± 0.37
Myelencephalon6.32 ± 0.38
Occipital Lobe6.12 ± 0.38
Parietal Lobe6.35 ± 0.33
Pontine Tegmentum6.3 ± 0.4
Striatum5.84 ± 0.38
Subthalamus6.39 ± 0.16
Temporal Lobe6.46 ± 0.29
Thalamus6.35 ± 0.33
White Matter6.82 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Whsc1CBCerebellum23.29
24.39
Whsc1CTXCerebral cortex42.54
27.92
Whsc1HIPHippocampal region28.03
30.7
Whsc1HPFHippocampal formation28.47
26.79
Whsc1HYHypothalamus18.04
12.65
Whsc1LSXLateral septal complex20.6
14.02
Whsc1MBMidbrain26.18
21.8
Whsc1MYMedulla30.68
29.54
Whsc1OLFOlfactory bulb42.05
31.77
Whsc1PPons28.47
26.85
Whsc1PALPallidum17.9
13.33
Whsc1RHPRetrohippocampal region29.64
21.18
Whsc1sAMYStriatum-like amygdalar nuclei25.67
16.54
Whsc1STRStriatum23.53
16.45
Whsc1STRdStriatum dorsal region21.03
15.05
Whsc1STRvStriatum ventral region31.13
20.2
Whsc1THThalamus30.76
23.21
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000476 18 403 420 AKLCSSAETLESHPDIGK Peptide Atlas

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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