AutismKB 2.0

Annotation Detail for MDGA2


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Basic Information Top
Gene Symbol:MDGA2 ( MAMDC1,c14_5286 )
Gene Full Name: MAM domain containing glycosylphosphatidylinositol anchor 2
Band: 14q21.3
Quick LinksEntrez ID:161357; OMIM: 611128; Uniprot ID:MDGA2_HUMAN; ENSEMBL ID: ENSG00000139915; HGNC ID: 19835
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 body0 / 707610 
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal37 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
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 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1021_PI416573500
  • 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
Amygdala5.83 ± 0.38
Basal Forebrain6.03 ± 0.27
Basal Part of Pons6.39 ± 0.42
Cerebellar Cortex5.34 ± 0.38
Cerebellar Nuclei5.76 ± 0.59
Claustrum5.44 ± 0.45
Epithalamus5.37 ± 0.72
Frontal Lobe6.08 ± 0.39
Globus Pallidus5.13 ± 0.73
Hypothalamus6.16 ± 0.43
Insula6.06 ± 0.38
Limbic Lobe5.72 ± 0.53
Mesencephalon5.63 ± 0.56
Myelencephalon5.78 ± 0.6
Occipital Lobe5.43 ± 0.61
Parietal Lobe5.98 ± 0.42
Pontine Tegmentum5.75 ± 0.38
Striatum5.41 ± 0.78
Subthalamus5.93 ± 0.03
Temporal Lobe5.94 ± 0.38
Thalamus5.97 ± 0.37
White Matter4.58 ± 0.79
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mamdc1CBCerebellum7.81
9.46
Mamdc1CTXCerebral cortex5.23
3.68
Mamdc1HIPHippocampal region5.03
4.15
Mamdc1HPFHippocampal formation7.27
6.13
Mamdc1HYHypothalamus3.02
2.45
Mamdc1LSXLateral septal complex16.57
12.38
Mamdc1MBMidbrain3.78
3.42
Mamdc1MYMedulla7.58
7.39
Mamdc1OLFOlfactory bulb12.57
10.31
Mamdc1PPons4.72
4.57
Mamdc1PALPallidum5.92
4.87
Mamdc1RHPRetrohippocampal region11.17
8.95
Mamdc1sAMYStriatum-like amygdalar nuclei2.42
1.57
Mamdc1STRStriatum7.59
5.42
Mamdc1STRdStriatum dorsal region5.74
4.18
Mamdc1STRvStriatum ventral region10.01
6.56
Mamdc1THThalamus2.41
2.02
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