AutismKB 2.0

Annotation Detail for DMPK


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DMPK ( DM,DM1,DM1PK,DMK,MDPK,MT-PK )
Gene Full Name: dystrophia myotonica-protein kinase
Band: 19q13.32
Quick LinksEntrez ID:1760; OMIM: 605377; Uniprot ID:DMPK_HUMAN; ENSEMBL ID: ENSG00000104936; HGNC ID: 2933
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 body5 / 7076170
blastocyst4 / 6231964
fetus14 / 56401224
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult70 / 193912136
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma7 / 10688365
head and neck tumor9 / 13630266
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor12 / 103127116
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal132 / 336030739
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor13 / 124949104
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain47 / 110098942
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye5 / 21105423
heart12 / 89626133
intestine18 / 23447276
kidney7 / 21177733
larynx1 / 2414541
liver4 / 20774319
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth3 / 6705244
muscle4 / 10771537
nerve2 / 15768126
ovary4 / 10205139
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate20 / 189345105
salivary gland5 / 20155248
skin15 / 21057471
spleen2 / 5395237
stomach3 / 9661931
testis13 / 33044239
thymus0 / 811310 
thyroid2 / 4747342
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217066_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.9
Adipocyte18.9
AdrenalCortex13.9
Adrenalgland10.45
Amygdala14.45
Appendix10
AtrioventricularNode9.1
BDCA4+_DentriticCells13.25
Bonemarrow13.65
BronchialEpithelialCells9.7
CD105+_Endothelial11.85
CD14+_Monocytes11.4
CD19+_BCells(neg._sel.)13.25
CD33+_Myeloid14.25
CD34+14.5
CD4+_Tcells13.6
CD56+_NKCells15.2
CD71+_EarlyErythroid14.05
CD8+_Tcells13
CardiacMyocytes14.8
Caudatenucleus11.05
Cerebellum9.05
CerebellumPeduncles14.1
CiliaryGanglion7.7
CingulateCortex13.4
Colorectaladenocarcinoma14.25
DorsalRootGanglion7.2
FetalThyroid13.2
Fetalbrain20.95
Fetalliver8.6
Fetallung11.6
GlobusPallidus10.2
Heart42.85
Hypothalamus11.85
Kidney7.4
Leukemia_chronicMyelogenousK-56211
Leukemia_promyelocytic-HL-6010.75
Leukemialymphoblastic(MOLT-4)8.8
Liver23.8
Lung13.7
Lymphnode13.35
Lymphoma_burkitts(Daudi)14.8
Lymphoma_burkitts(Raji)21.25
MedullaOblongata12.4
OccipitalLobe10.65
OlfactoryBulb9.95
Ovary8
Pancreas9.4
PancreaticIslet12.85
ParietalLobe12.35
Pituitary13.7
Placenta12.1
Pons15.95
PrefrontalCortex14.8
Prostate37.15
Salivarygland5.9
SkeletalMuscle19.35
Skin7.9
SmoothMuscle13
Spinalcord13.35
SubthalamicNucleus10.9
SuperiorCervicalGanglion12.55
TemporalLobe10.25
Testis8.7
TestisGermCell9.95
TestisIntersitial8.85
TestisLeydigCell11.45
TestisSeminiferousTubule9.1
Thalamus18.7
Thymus7.15
Thyroid29.85
Tongue14.45
Tonsil12.7
Trachea8.3
TrigeminalGanglion13.35
Uterus15.25
UterusCorpus8.6
WholeBlood11.45
Wholebrain9.7
colon13.05
pineal_day33.32
pineal_night24.98
retina26.175
small_intestine11.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12482_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
Amygdala2.13 ± 1.04
Basal Forebrain1.5 ± 0.25
Basal Part of Pons1.4 ± 0.43
Cerebellar Cortex1.85 ± 0.66
Cerebellar Nuclei2.07 ± 0.77
Claustrum2.43 ± 0.72
Epithalamus1.6 ± 0.59
Frontal Lobe1.68 ± 0.68
Globus Pallidus1.99 ± 0.5
Hypothalamus1.63 ± 0.7
Insula1.51 ± 0.48
Limbic Lobe1.71 ± 0.69
Mesencephalon1.91 ± 0.62
Myelencephalon1.83 ± 0.61
Occipital Lobe1.79 ± 0.63
Parietal Lobe1.71 ± 0.66
Pontine Tegmentum1.81 ± 0.67
Striatum2.01 ± 0.68
Subthalamus1.88 ± 0.75
Temporal Lobe1.74 ± 0.63
Thalamus1.77 ± 0.59
White Matter2.69 ± 0.4
Mouse Brain ISH
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved