AutismKB 2.0

Annotation Detail for DMWD


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Basic Information Top
Gene Symbol:DMWD ( D19S593E,DMR-N9,DMRN9,gene59 )
Gene Full Name: dystrophia myotonica, WD repeat containing
Band: 19q13.32
Quick LinksEntrez ID:1762; OMIM: 609857; Uniprot ID:DMWD_HUMAN; ENSEMBL ID: ENSG00000185800; HGNC ID: 2936
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 body7 / 7076198
blastocyst1 / 6231916
fetus28 / 56401249
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult50 / 193912125
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma6 / 10688356
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal118 / 336030735
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone6 / 7165583
bone marrow0 / 488010 
brain25 / 110098922
cervix4 / 4817183
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye25 / 211054118
heart4 / 8962644
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung8 / 33697423
lymph1 / 4427022
lymph node0 / 916100 
mammary gland6 / 15327139
mouth1 / 6705214
muscle5 / 10771546
nerve2 / 15768126
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate6 / 18934531
salivary gland2 / 2015599
skin8 / 21057437
spleen1 / 5395218
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213231_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.05
Adipocyte8.2
AdrenalCortex9.05
Adrenalgland6.7
Amygdala8.2
Appendix10.45
AtrioventricularNode9.9
BDCA4+_DentriticCells7.4
Bonemarrow7.65
BronchialEpithelialCells7.2
CD105+_Endothelial7.4
CD14+_Monocytes7.85
CD19+_BCells(neg._sel.)7.9
CD33+_Myeloid8.9
CD34+8.8
CD4+_Tcells7.6
CD56+_NKCells8.2
CD71+_EarlyErythroid7.15
CD8+_Tcells6.7
CardiacMyocytes9.95
Caudatenucleus8.35
Cerebellum6.45
CerebellumPeduncles9.9
CiliaryGanglion5.7
CingulateCortex9.05
Colorectaladenocarcinoma8.45
DorsalRootGanglion6.8
FetalThyroid8.4
Fetalbrain10.5
Fetalliver6.35
Fetallung6.25
GlobusPallidus6.1
Heart9.75
Hypothalamus7.95
Kidney7.3
Leukemia_chronicMyelogenousK-5627.05
Leukemia_promyelocytic-HL-606.75
Leukemialymphoblastic(MOLT-4)6.05
Liver9.9
Lung8.25
Lymphnode6.65
Lymphoma_burkitts(Daudi)10
Lymphoma_burkitts(Raji)11.25
MedullaOblongata9.1
OccipitalLobe7.05
OlfactoryBulb6.5
Ovary5.2
Pancreas6.8
PancreaticIslet8.05
ParietalLobe8.45
Pituitary8.9
Placenta7.6
Pons13.15
PrefrontalCortex9.7
Prostate8.7
Salivarygland6.15
SkeletalMuscle13.8
Skin6.55
SmoothMuscle8.55
Spinalcord8.25
SubthalamicNucleus7.05
SuperiorCervicalGanglion10
TemporalLobe8.8
Testis6.55
TestisGermCell6.55
TestisIntersitial6.7
TestisLeydigCell8.1
TestisSeminiferousTubule6.65
Thalamus7.8
Thymus6.1
Thyroid9.2
Tongue9.6
Tonsil8.3
Trachea6.45
TrigeminalGanglion7.7
Uterus6.1
UterusCorpus7.05
WholeBlood8.1
Wholebrain6.4
colon7
pineal_day9.42
pineal_night9.26
retina9.375
small_intestine6.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2111_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
Amygdala4.98 ± 0.84
Basal Forebrain4.7 ± 0.29
Basal Part of Pons5.01 ± 0.29
Cerebellar Cortex4.36 ± 0.51
Cerebellar Nuclei4.2 ± 0.47
Claustrum5.05 ± 0.81
Epithalamus4.44 ± 0.4
Frontal Lobe4.84 ± 0.58
Globus Pallidus4.49 ± 0.58
Hypothalamus4.4 ± 0.67
Insula4.76 ± 0.56
Limbic Lobe5.02 ± 0.47
Mesencephalon4.62 ± 0.69
Myelencephalon4.77 ± 0.56
Occipital Lobe4.37 ± 0.48
Parietal Lobe4.64 ± 0.53
Pontine Tegmentum4.64 ± 0.51
Striatum4.82 ± 0.46
Subthalamus4.89 ± 0.47
Temporal Lobe4.96 ± 0.51
Thalamus4.66 ± 0.52
White Matter3.92 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
DmwdCBCerebellum73
73.33
DmwdCTXCerebral cortex100
93.57
DmwdHIPHippocampal region90.29
97.96
DmwdHPFHippocampal formation100
100
DmwdHYHypothalamus100
85.87
DmwdLSXLateral septal complex85.53
68.53
DmwdMBMidbrain79.94
62.1
DmwdMYMedulla94.7
90.77
DmwdOLFOlfactory bulb100
93.53
DmwdPPons90.57
84.04
DmwdPALPallidum85.18
69.53
DmwdRHPRetrohippocampal region100
100
DmwdsAMYStriatum-like amygdalar nuclei99.63
80.43
DmwdSTRStriatum87.85
62.67
DmwdSTRdStriatum dorsal region81.16
50.46
DmwdSTRvStriatum ventral region100
84.01
DmwdTHThalamus75.67
55.92
Peptide 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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