AutismKB 2.0

Annotation Detail for ADAMTS12


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ADAMTS12 ( PRO4389 )
Gene Full Name: ADAM metallopeptidase with thrombospondin type 1 motif, 12
Band: 5p13.3-p13.2
Quick LinksEntrez ID:81792; OMIM: 606184; Uniprot ID:ATS12_HUMAN; ENSEMBL ID: ENSG00000151388; HGNC ID: 14605
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 body1 / 7076114
blastocyst2 / 6231932
fetus31 / 56401254
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult32 / 193912116
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 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal63 / 336030718
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
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 
bone6 / 7165583
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye0 / 2110540 
heart8 / 8962689
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221421_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5
Adipocyte4.55
AdrenalCortex4.75
Adrenalgland4.1
Amygdala4.95
Appendix4.5
AtrioventricularNode7.35
BDCA4+_DentriticCells5.05
Bonemarrow7.75
BronchialEpithelialCells4.6
CD105+_Endothelial4.15
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)7.2
CD33+_Myeloid5.55
CD34+5.15
CD4+_Tcells5.05
CD56+_NKCells5.15
CD71+_EarlyErythroid4.3
CD8+_Tcells4.5
CardiacMyocytes6.1
Caudatenucleus4.15
Cerebellum5
CerebellumPeduncles5.15
CiliaryGanglion3.3
CingulateCortex4.65
Colorectaladenocarcinoma4.6
DorsalRootGanglion5
FetalThyroid4.6
Fetalbrain4.65
Fetalliver4.1
Fetallung3.85
GlobusPallidus3.3
Heart6.55
Hypothalamus4.9
Kidney4.55
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)4.3
Liver11.4
Lung5.1
Lymphnode5.1
Lymphoma_burkitts(Daudi)6.6
Lymphoma_burkitts(Raji)8.85
MedullaOblongata4.25
OccipitalLobe4.1
OlfactoryBulb3.65
Ovary3.85
Pancreas4.45
PancreaticIslet5
ParietalLobe4.75
Pituitary5.35
Placenta4.85
Pons4.3
PrefrontalCortex5.8
Prostate6.05
Salivarygland3.65
SkeletalMuscle5.65
Skin4.85
SmoothMuscle5.8
Spinalcord4.75
SubthalamicNucleus4.1
SuperiorCervicalGanglion5.15
TemporalLobe4.15
Testis4
TestisGermCell3.95
TestisIntersitial3.85
TestisLeydigCell4.5
TestisSeminiferousTubule3.95
Thalamus4.6
Thymus3.5
Thyroid5.8
Tongue5.7
Tonsil4.45
Trachea4.65
TrigeminalGanglion5.35
Uterus3.85
UterusCorpus4.05
WholeBlood5.45
Wholebrain4.7
colon4.6
pineal_day5.28
pineal_night5.16
retina5.225
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P103220
  • 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
Amygdala2.28 ± 1.15
Basal Forebrain1.65 ± 0.19
Basal Part of Pons1.41 ± 0.39
Cerebellar Cortex1.64 ± 0.9
Cerebellar Nuclei2 ± 0.66
Claustrum2.75 ± 1.06
Epithalamus1.42 ± 0.66
Frontal Lobe1.56 ± 0.59
Globus Pallidus2.34 ± 0.7
Hypothalamus1.69 ± 0.61
Insula1.63 ± 0.56
Limbic Lobe1.71 ± 0.73
Mesencephalon1.93 ± 0.73
Myelencephalon1.75 ± 0.7
Occipital Lobe1.8 ± 0.62
Parietal Lobe1.72 ± 0.73
Pontine Tegmentum1.78 ± 0.67
Striatum1.83 ± 0.5
Subthalamus1.91 ± 0.65
Temporal Lobe1.59 ± 0.56
Thalamus1.87 ± 0.69
White Matter3.13 ± 0.95
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Adamts12CBCerebellum21.06
27.74
Adamts12CTXCerebral cortex12.14
8.82
Adamts12HIPHippocampal region9.09
8.87
Adamts12HPFHippocampal formation10.37
9.2
Adamts12HYHypothalamus2.77
2.22
Adamts12LSXLateral septal complex0.9
1.44
Adamts12MBMidbrain3.89
4.34
Adamts12MYMedulla7.15
7.61
Adamts12OLFOlfactory bulb24.36
19
Adamts12PPons6.86
7.26
Adamts12PALPallidum4.22
3.95
Adamts12RHPRetrohippocampal region13.39
10.09
Adamts12sAMYStriatum-like amygdalar nuclei10.99
8.57
Adamts12STRStriatum7.9
6.01
Adamts12STRdStriatum dorsal region8.56
6.59
Adamts12STRvStriatum ventral region6.92
4.71
Adamts12THThalamus3.59
3.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATS12_HUMAN_1181 25 1181 1205 VPGNDAPVESTEMPLAPPLTPDLSR PRIDE

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