AutismKB 2.0

Annotation Detail for MMD


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Basic Information Top
Gene Symbol:MMD ( MMA,PAQR11 )
Gene Full Name: monocyte to macrophage differentiation-associated
Band: 17q22
Quick LinksEntrez ID:23531; OMIM: 604467; Uniprot ID:PAQRB_HUMAN; ENSEMBL ID: ENSG00000108960; HGNC ID: 7153
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 body4 / 7076156
blastocyst3 / 6231948
fetus17 / 56401230
neonate0 / 310970 
infant3 / 23620127
juvenile4 / 5555671
adult82 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal135 / 336030740
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor1 / 1249498
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 tissue2 / 13106152
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain89 / 110098980
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye10 / 21105447
heart2 / 8962622
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver6 / 20774328
lung6 / 33697417
lymph1 / 4427022
lymph node8 / 9161087
mammary gland17 / 153271110
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta25 / 28082589
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach2 / 9661920
testis12 / 33044236
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203414_at
Cell line Expression level Expression bar
721_B_lymphoblasts225.7
Adipocyte84.9
AdrenalCortex7.75
Adrenalgland15.05
Amygdala887.65
Appendix20.4
AtrioventricularNode13.35
BDCA4+_DentriticCells54.45
Bonemarrow19
BronchialEpithelialCells11.05
CD105+_Endothelial186.95
CD14+_Monocytes141.35
CD19+_BCells(neg._sel.)302.2
CD33+_Myeloid56.85
CD34+172.7
CD4+_Tcells54.4
CD56+_NKCells91.9
CD71+_EarlyErythroid287.75
CD8+_Tcells65.6
CardiacMyocytes24.85
Caudatenucleus378.2
Cerebellum6.05
CerebellumPeduncles11.1
CiliaryGanglion15.2
CingulateCortex106.6
Colorectaladenocarcinoma96.6
DorsalRootGanglion17.1
FetalThyroid13.15
Fetalbrain789.5
Fetalliver46.35
Fetallung41.8
GlobusPallidus42.6
Heart8.8
Hypothalamus109.85
Kidney4.75
Leukemia_chronicMyelogenousK-56225.8
Leukemia_promyelocytic-HL-6090.5
Leukemialymphoblastic(MOLT-4)66.2
Liver9.15
Lung28.95
Lymphnode53
Lymphoma_burkitts(Daudi)75.55
Lymphoma_burkitts(Raji)132.3
MedullaOblongata91.45
OccipitalLobe240
OlfactoryBulb14.35
Ovary12.2
Pancreas6.4
PancreaticIslet32.2
ParietalLobe65.4
Pituitary8.05
Placenta351
Pons75.5
PrefrontalCortex197.5
Prostate14.95
Salivarygland13.8
SkeletalMuscle8.3
Skin8.65
SmoothMuscle76.9
Spinalcord82.55
SubthalamicNucleus46.1
SuperiorCervicalGanglion11.65
TemporalLobe105.75
Testis57.85
TestisGermCell123.05
TestisIntersitial44.6
TestisLeydigCell20.2
TestisSeminiferousTubule39.25
Thalamus54.15
Thymus25.3
Thyroid33.25
Tongue5.65
Tonsil24.3
Trachea16.2
TrigeminalGanglion19.3
Uterus13.95
UterusCorpus15.95
WholeBlood320.55
Wholebrain217.8
colon88.85
pineal_day854.2
pineal_night1111.14
retina131.625
small_intestine164
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_765_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
Amygdala10.35 ± 0.86
Basal Forebrain9.56 ± 0.46
Basal Part of Pons8.85 ± 0.38
Cerebellar Cortex8.71 ± 0.37
Cerebellar Nuclei8.39 ± 0.62
Claustrum9.85 ± 0.48
Epithalamus8.71 ± 0.54
Frontal Lobe9.79 ± 0.59
Globus Pallidus10.51 ± 0.55
Hypothalamus9.18 ± 0.59
Insula10.13 ± 0.3
Limbic Lobe10.46 ± 0.68
Mesencephalon9.38 ± 0.74
Myelencephalon9.47 ± 0.61
Occipital Lobe8.69 ± 0.79
Parietal Lobe9.19 ± 0.7
Pontine Tegmentum9.64 ± 0.61
Striatum10.43 ± 0.48
Subthalamus8.92 ± 0.37
Temporal Lobe9.94 ± 0.7
Thalamus8.92 ± 0.55
White Matter7.86 ± 0.96
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MmdCBCerebellum25.04
79.26
MmdCTXCerebral cortex100
100
MmdHIPHippocampal region100
100
MmdHPFHippocampal formation100
100
MmdHYHypothalamus34.59
31.41
MmdLSXLateral septal complex86.28
85.9
MmdMBMidbrain50.57
50.25
MmdMYMedulla42.5
47.64
MmdOLFOlfactory bulb100
100
MmdPPons29.76
34.15
MmdPALPallidum53.79
59.28
MmdRHPRetrohippocampal region100
100
MmdsAMYStriatum-like amygdalar nuclei100
100
MmdSTRStriatum100
100
MmdSTRdStriatum dorsal region100
100
MmdSTRvStriatum ventral region100
100
MmdTHThalamus63.3
71.94
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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