AutismKB 2.0

Annotation Detail for AMZ2


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Basic Information Top
Gene Symbol:AMZ2 ( - )
Gene Full Name: archaelysin family metallopeptidase 2
Band: 17q24.2
Quick LinksEntrez ID:51321; OMIM: NA; Uniprot ID:AMZ2_HUMAN; ENSEMBL ID: ENSG00000196704; HGNC ID: 28041
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 body7 / 7076198
blastocyst5 / 6231980
fetus42 / 56401274
neonate0 / 310970 
infant1 / 2362042
juvenile4 / 5555671
adult133 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor5 / 26384518
glioma15 / 106883140
head and neck tumor7 / 13630251
kidney tumor6 / 6895987
leukemia14 / 95842146
liver tumor19 / 96359197
lung tumor6 / 10312758
lymphoma5 / 7175569
non-neoplasia7 / 9725071
normal239 / 336030771
ovarian tumor3 / 7668239
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor35 / 124949280
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder4 / 29757134
blood4 / 12347832
bone2 / 7165527
bone marrow10 / 48801204
brain102 / 110098992
cervix4 / 4817183
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye14 / 21105466
heart7 / 8962678
intestine15 / 23447263
kidney15 / 21177770
larynx4 / 24145165
liver22 / 207743105
lung27 / 33697480
lymph1 / 4427022
lymph node5 / 9161054
mammary gland13 / 15327184
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary4 / 10205139
pancreas19 / 21481288
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta13 / 28082546
prostate10 / 18934552
salivary gland25 / 201551240
skin37 / 210574175
spleen0 / 539520 
stomach1 / 9661910
testis64 / 330442193
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218167_at
Cell line Expression level Expression bar
721_B_lymphoblasts457.85
Adipocyte115.6
AdrenalCortex38.15
Adrenalgland37.35
Amygdala348.7
Appendix50.6
AtrioventricularNode17.5
BDCA4+_DentriticCells221.2
Bonemarrow35.85
BronchialEpithelialCells493.45
CD105+_Endothelial100
CD14+_Monocytes104.1
CD19+_BCells(neg._sel.)353.6
CD33+_Myeloid122.35
CD34+104.85
CD4+_Tcells219.25
CD56+_NKCells598.2
CD71+_EarlyErythroid70.95
CD8+_Tcells270.5
CardiacMyocytes88.9
Caudatenucleus180.85
Cerebellum62.6
CerebellumPeduncles89.65
CiliaryGanglion30.25
CingulateCortex110.45
Colorectaladenocarcinoma106.1
DorsalRootGanglion36.15
FetalThyroid60.75
Fetalbrain144.25
Fetalliver41.3
Fetallung58.95
GlobusPallidus76.3
Heart32.7
Hypothalamus244.3
Kidney53.55
Leukemia_chronicMyelogenousK-56238.45
Leukemia_promyelocytic-HL-60125.85
Leukemialymphoblastic(MOLT-4)141.55
Liver33.25
Lung49.6
Lymphnode97.9
Lymphoma_burkitts(Daudi)206.7
Lymphoma_burkitts(Raji)169.35
MedullaOblongata124.95
OccipitalLobe143.5
OlfactoryBulb124.95
Ovary35.45
Pancreas35.2
PancreaticIslet94.5
ParietalLobe104.3
Pituitary129.5
Placenta62.2
Pons96.65
PrefrontalCortex481.85
Prostate88.7
Salivarygland89.65
SkeletalMuscle22.45
Skin36
SmoothMuscle104.15
Spinalcord200.2
SubthalamicNucleus95.7
SuperiorCervicalGanglion25.9
TemporalLobe121.35
Testis512.1
TestisGermCell1195.4
TestisIntersitial1099.1
TestisLeydigCell581.9
TestisSeminiferousTubule590.9
Thalamus108
Thymus63.9
Thyroid221.45
Tongue29.2
Tonsil82.55
Trachea74
TrigeminalGanglion35.45
Uterus107.95
UterusCorpus60.9
WholeBlood117.45
Wholebrain232.65
colon105.8
pineal_day233.96
pineal_night196.72
retina224.35
small_intestine93.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_932_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
Amygdala9.23 ± 0.41
Basal Forebrain9.36 ± 0.2
Basal Part of Pons9.59 ± 0.25
Cerebellar Cortex9.18 ± 0.14
Cerebellar Nuclei9.25 ± 0.21
Claustrum9.01 ± 0.51
Epithalamus9.91 ± 0.48
Frontal Lobe9.49 ± 0.26
Globus Pallidus9.13 ± 0.15
Hypothalamus9.46 ± 0.24
Insula9.42 ± 0.24
Limbic Lobe9.25 ± 0.38
Mesencephalon9.25 ± 0.28
Myelencephalon9.33 ± 0.39
Occipital Lobe9.12 ± 0.33
Parietal Lobe9.39 ± 0.29
Pontine Tegmentum9.32 ± 0.31
Striatum9.76 ± 0.31
Subthalamus9.27 ± 0.34
Temporal Lobe9.45 ± 0.29
Thalamus9.21 ± 0.24
White Matter8.88 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
X83328CBCerebellum17.41
26.87
X83328CTXCerebral cortex100
100
X83328HIPHippocampal region82.4
100
X83328HPFHippocampal formation86.01
100
X83328HYHypothalamus32.77
31.95
X83328LSXLateral septal complex62.97
49.98
X83328MBMidbrain21.88
27.4
X83328MYMedulla15.25
24.54
X83328OLFOlfactory bulb64.9
68.56
X83328PPons11.12
19.15
X83328PALPallidum54
55.77
X83328RHPRetrohippocampal region90.53
100
X83328sAMYStriatum-like amygdalar nuclei92.01
83.03
X83328STRStriatum90.34
76.95
X83328STRdStriatum dorsal region93.15
79.32
X83328STRvStriatum ventral region89.43
73.88
X83328THThalamus38.94
37.16
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