AutismKB 2.0

Annotation Detail for A2M


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Basic Information Top
Gene Symbol:A2M ( CPAMD5,DKFZp779B086,S863-7 )
Gene Full Name: alpha-2-macroglobulin
Band: 12p13.31
Quick LinksEntrez ID:2; OMIM: 103950; Uniprot ID:A2MG_HUMAN; ENSEMBL ID: ENSG00000175899; HGNC ID: 7
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 body9 / 70761127
blastocyst4 / 6231964
fetus329 / 564012583
neonate5 / 31097160
infant2 / 2362084
juvenile27 / 55556485
adult1015 / 1939121523
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor18 / 127941406
bladder carcinoma0 / 174750 
breast (mammary gland) tumor11 / 94178116
cervical tumor2 / 3436658
chondrosarcoma44 / 82823531
colorectal tumor121 / 1142461059
esophageal tumor3 / 17290173
gastrointestinal tumor42 / 119369351
germ cell tumor12 / 26384545
glioma20 / 106883187
head and neck tumor57 / 136302418
kidney tumor21 / 68959304
leukemia7 / 9584273
liver tumor64 / 96359664
lung tumor19 / 103127184
lymphoma1 / 7175513
non-neoplasia40 / 97250411
normal1658 / 3360307493
ovarian tumor15 / 76682195
pancreatic tumor30 / 104616286
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor66 / 124949528
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor61 / 90257675
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue17 / 131061297
adrenal gland23 / 33197692
ascites0 / 400150 
bladder1 / 2975733
blood13 / 123478105
bone11 / 71655153
bone marrow2 / 4880140
brain291 / 1100989264
cervix4 / 4817183
connective tissue78 / 149255522
ear16 / 16212986
embryonic tissue45 / 215722208
esophagus3 / 20209148
eye44 / 211054208
heart50 / 89626557
intestine166 / 234472707
kidney52 / 211777245
larynx7 / 24145289
liver318 / 2077431530
lung220 / 336974652
lymph0 / 442700 
lymph node1 / 9161010
mammary gland24 / 153271156
mouth39 / 67052581
muscle61 / 107715566
nerve8 / 15768507
ovary11 / 102051107
pancreas37 / 214812172
parathyroid8 / 20539389
pharynx17 / 41328411
pituitary gland5 / 16585301
placenta210 / 280825747
prostate64 / 189345338
salivary gland0 / 201550 
skin67 / 210574318
spleen39 / 53952722
stomach53 / 96619548
testis61 / 330442184
thymus18 / 81131221
thyroid23 / 47473484
tonsil0 / 169990 
trachea98 / 524131869
umbilical cord0 / 136800 
uterus170 / 232878729
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217757_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.2
Adipocyte576.7
AdrenalCortex734.05
Adrenalgland800.95
Amygdala307.95
Appendix1192.45
AtrioventricularNode337.9
BDCA4+_DentriticCells6.15
Bonemarrow34.55
BronchialEpithelialCells4.5
CD105+_Endothelial69.1
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid5.4
CD34+7.65
CD4+_Tcells4.8
CD56+_NKCells5.75
CD71+_EarlyErythroid4.25
CD8+_Tcells4.5
CardiacMyocytes6.85
Caudatenucleus419.3
Cerebellum122.7
CerebellumPeduncles238.4
CiliaryGanglion286.6
CingulateCortex235.85
Colorectaladenocarcinoma5.6
DorsalRootGanglion601.8
FetalThyroid1422.45
Fetalbrain66.8
Fetalliver3496.95
Fetallung3629.55
GlobusPallidus139.6
Heart492.1
Hypothalamus772.45
Kidney582.45
Leukemia_chronicMyelogenousK-56210.45
Leukemia_promyelocytic-HL-604.7
Leukemialymphoblastic(MOLT-4)4.95
Liver2277.75
Lung6283.9
Lymphnode1172.35
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)8.2
MedullaOblongata219.2
OccipitalLobe487.35
OlfactoryBulb915.8
Ovary1052.8
Pancreas390.3
PancreaticIslet702.75
ParietalLobe282.15
Pituitary871.55
Placenta1812
Pons125.05
PrefrontalCortex532
Prostate624.55
Salivarygland450.9
SkeletalMuscle117.55
Skin348.6
SmoothMuscle20
Spinalcord944.95
SubthalamicNucleus143.6
SuperiorCervicalGanglion119.3
TemporalLobe161.95
Testis256.3
TestisGermCell372.35
TestisIntersitial303.05
TestisLeydigCell357.75
TestisSeminiferousTubule366.35
Thalamus477.85
Thymus352.45
Thyroid655.8
Tongue245.4
Tonsil143.15
Trachea864.35
TrigeminalGanglion295.95
Uterus1977.4
UterusCorpus923.95
WholeBlood15.15
Wholebrain218.95
colon568.2
pineal_day410.78
pineal_night497.8
retina2106.15
small_intestine1166.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6_PI416558205
  • 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
Amygdala5.18 ± 0.45
Basal Forebrain5.69 ± 0.13
Basal Part of Pons5.82 ± 0.33
Cerebellar Cortex5.49 ± 0.25
Cerebellar Nuclei6.6 ± 0.41
Claustrum5.33 ± 0.5
Epithalamus5.73 ± 0.74
Frontal Lobe5.87 ± 0.39
Globus Pallidus7.2 ± 0.37
Hypothalamus5.63 ± 0.77
Insula5.87 ± 0.38
Limbic Lobe5.8 ± 0.5
Mesencephalon5.97 ± 0.46
Myelencephalon6.01 ± 0.5
Occipital Lobe6.09 ± 0.64
Parietal Lobe5.68 ± 0.42
Pontine Tegmentum5.96 ± 0.57
Striatum6.66 ± 0.45
Subthalamus6.15 ± 0.19
Temporal Lobe5.79 ± 0.37
Thalamus6.12 ± 0.45
White Matter6.21 ± 0.98
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009223 21 767 787 AGAFCLSEDAGLGISSTASLR 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