AutismKB 2.0

Annotation Detail for DMD


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Basic Information Top
Gene Symbol:DMD ( BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272 )
Gene Full Name: dystrophin
Band: Xp21.2-p21.1
Quick LinksEntrez ID:1756; OMIM: 300377; Uniprot ID:DMD_HUMAN; ENSEMBL ID: ENSG00000198947; HGNC ID: 2928
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 body2 / 7076128
blastocyst2 / 6231932
fetus40 / 56401270
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult90 / 193912146
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 
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor8 / 13630258
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal166 / 336030749
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain62 / 110098956
cervix6 / 48171124
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye13 / 21105461
heart7 / 8962678
intestine12 / 23447251
kidney5 / 21177723
larynx0 / 241450 
liver8 / 20774338
lung4 / 33697411
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth2 / 6705229
muscle17 / 107715157
nerve2 / 15768126
ovary3 / 10205129
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta7 / 28082524
prostate11 / 18934558
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis11 / 33044233
thymus1 / 8113112
thyroid6 / 47473126
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus8 / 23287834
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208086_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.35
Adipocyte6.2
AdrenalCortex8.65
Adrenalgland5.75
Amygdala6.4
Appendix7.7
AtrioventricularNode5.9
BDCA4+_DentriticCells6.25
Bonemarrow6.75
BronchialEpithelialCells6.1
CD105+_Endothelial6.3
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.4
CD33+_Myeloid7.9
CD34+7.55
CD4+_Tcells6.3
CD56+_NKCells6.9
CD71+_EarlyErythroid6.1
CD8+_Tcells5.9
CardiacMyocytes9.5
Caudatenucleus5.75
Cerebellum5.3
CerebellumPeduncles7.5
CiliaryGanglion5.2
CingulateCortex6.7
Colorectaladenocarcinoma6.25
DorsalRootGanglion5.45
FetalThyroid6.2
Fetalbrain6
Fetalliver5.7
Fetallung4.95
GlobusPallidus4.95
Heart9.3
Hypothalamus6.65
Kidney5.6
Leukemia_chronicMyelogenousK-5625.7
Leukemia_promyelocytic-HL-605.55
Leukemialymphoblastic(MOLT-4)4.9
Liver9.3
Lung6.8
Lymphnode5.1
Lymphoma_burkitts(Daudi)8.1
Lymphoma_burkitts(Raji)9.5
MedullaOblongata5.9
OccipitalLobe6.1
OlfactoryBulb8.05
Ovary4.85
Pancreas5.25
PancreaticIslet6.9
ParietalLobe7.6
Pituitary7.35
Placenta6.3
Pons8.55
PrefrontalCortex7.7
Prostate7.05
Salivarygland10.7
SkeletalMuscle9
Skin5.55
SmoothMuscle7
Spinalcord9.45
SubthalamicNucleus8.5
SuperiorCervicalGanglion14.3
TemporalLobe6.6
Testis5.5
TestisGermCell5.3
TestisIntersitial5.9
TestisLeydigCell6.5
TestisSeminiferousTubule6.55
Thalamus6.6
Thymus4.7
Thyroid7.55
Tongue7.75
Tonsil6.45
Trachea5.25
TrigeminalGanglion8.55
Uterus5.35
UterusCorpus6.7
WholeBlood6.9
Wholebrain5.05
colon6.4
pineal_day7.8
pineal_night7.7
retina7.8
small_intestine6.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P321860
  • 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
Amygdala1.91 ± 1.01
Basal Forebrain1.5 ± 0.21
Basal Part of Pons1.15 ± 0.37
Cerebellar Cortex1.28 ± 0.63
Cerebellar Nuclei1.72 ± 0.7
Claustrum2.29 ± 0.81
Epithalamus1.19 ± 0.69
Frontal Lobe1.37 ± 0.65
Globus Pallidus2.22 ± 0.56
Hypothalamus1.6 ± 0.7
Insula1.42 ± 0.58
Limbic Lobe1.47 ± 0.61
Mesencephalon1.58 ± 0.69
Myelencephalon1.53 ± 0.64
Occipital Lobe1.5 ± 0.61
Parietal Lobe1.47 ± 0.67
Pontine Tegmentum1.59 ± 0.66
Striatum1.65 ± 0.54
Subthalamus1.6 ± 0.63
Temporal Lobe1.38 ± 0.63
Thalamus1.46 ± 0.55
White Matter1.93 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
DmdCBCerebellum12.65
18.23
DmdCTXCerebral cortex2.19
1.72
DmdHIPHippocampal region2.25
2.49
DmdHPFHippocampal formation2.68
2.74
DmdHYHypothalamus0.1
0.11
DmdLSXLateral septal complex0.22
0.27
DmdMBMidbrain1.09
1.31
DmdMYMedulla1.6
1.91
DmdOLFOlfactory bulb2.73
3.04
DmdPPons1.08
1.75
DmdPALPallidum0.1
0.09
DmdRHPRetrohippocampal region3.58
3.23
DmdsAMYStriatum-like amygdalar nuclei0.61
0.7
DmdSTRStriatum0.31
0.32
DmdSTRdStriatum dorsal region0.33
0.32
DmdSTRvStriatum ventral region0.13
0.17
DmdTHThalamus0.45
0.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095361 22 658 679 ALCLDLLSLSAACDALDQHNLK 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