AutismKB 2.0

Annotation Detail for MACROD2


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Basic Information Top
Gene Symbol:MACROD2 ( C20orf133 )
Gene Full Name: MACRO domain containing 2
Band: 20p12.1
Quick LinksEntrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264; HGNC ID: 16126
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
blastocyst1 / 6231916
fetus5 / 5640128
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal28 / 33603078
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis7 / 33044221
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P22398
  • 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
Amygdala9.35 ± 0.18
Basal Forebrain9.21 ± 0.35
Basal Part of Pons9.32 ± 0.24
Cerebellar Cortex8.71 ± 0.11
Cerebellar Nuclei8.74 ± 0.26
Claustrum8.86 ± 0.31
Epithalamus8.53 ± 0.54
Frontal Lobe9.01 ± 0.33
Globus Pallidus8.51 ± 0.3
Hypothalamus8.91 ± 0.41
Insula9.2 ± 0.25
Limbic Lobe9.03 ± 0.39
Mesencephalon8.91 ± 0.45
Myelencephalon8.96 ± 0.36
Occipital Lobe8.6 ± 0.32
Parietal Lobe8.84 ± 0.29
Pontine Tegmentum8.88 ± 0.34
Striatum9.91 ± 0.3
Subthalamus9.08 ± 0.07
Temporal Lobe9.04 ± 0.31
Thalamus9.03 ± 0.39
White Matter8.06 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2900006F19RikCBCerebellum16.86
19.9
2900006F19RikCTXCerebral cortex51.6
37.68
2900006F19RikHIPHippocampal region30.01
31.7
2900006F19RikHPFHippocampal formation37.69
35.92
2900006F19RikHYHypothalamus12.16
9.41
2900006F19RikLSXLateral septal complex19.28
12.83
2900006F19RikMBMidbrain15.41
13.55
2900006F19RikMYMedulla21.64
21.3
2900006F19RikOLFOlfactory bulb51.01
42.62
2900006F19RikPPons18.82
17.55
2900006F19RikPALPallidum17.48
14.19
2900006F19RikRHPRetrohippocampal region54.63
45.43
2900006F19RiksAMYStriatum-like amygdalar nuclei35.8
25.64
2900006F19RikSTRStriatum41.55
28.42
2900006F19RikSTRdStriatum dorsal region45.1
31.14
2900006F19RikSTRvStriatum ventral region43.36
27.74
2900006F19RikTHThalamus25.93
19.71
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