AutismKB 2.0

Annotation Detail for ADAMTS13


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Basic Information Top
Gene Symbol:ADAMTS13 ( C9orf8,DKFZp434C2322,FLJ42993,MGC118899,MGC118900,TTP,VWFCP,vWF-CP )
Gene Full Name: ADAM metallopeptidase with thrombospondin type 1 motif, 13
Band: 9q34.2
Quick LinksEntrez ID:11093; OMIM: 604134; Uniprot ID:ATS13_HUMAN; ENSEMBL ID: ENSG00000160323; HGNC ID: 1366
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 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult17 / 19391218
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal23 / 33603076
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine7 / 23447229
kidney3 / 21177714
larynx0 / 241450 
liver4 / 20774319
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis12 / 33044236
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220208_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.2
Adipocyte4.15
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.45
Appendix4.2
AtrioventricularNode3.2
BDCA4+_DentriticCells4.7
Bonemarrow4.25
BronchialEpithelialCells4.45
CD105+_Endothelial6
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid5.55
CD34+5.45
CD4+_Tcells4.6
CD56+_NKCells5
CD71+_EarlyErythroid11.1
CD8+_Tcells4.05
CardiacMyocytes5.4
Caudatenucleus3.75
Cerebellum3.35
CerebellumPeduncles4.8
CiliaryGanglion2.95
CingulateCortex4.2
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.2
FetalThyroid4.05
Fetalbrain4.2
Fetalliver4.95
Fetallung3.65
GlobusPallidus3.1
Heart5.3
Hypothalamus4.55
Kidney3.4
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)4.05
Liver12.35
Lung8.8
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)6.05
MedullaOblongata3.8
OccipitalLobe3.75
OlfactoryBulb3.3
Ovary2.75
Pancreas3.4
PancreaticIslet4.45
ParietalLobe4.4
Pituitary4.9
Placenta4.3
Pons4.05
PrefrontalCortex5.2
Prostate4.85
Salivarygland3.3
SkeletalMuscle4.85
Skin3.2
SmoothMuscle4.7
Spinalcord5
SubthalamicNucleus3.75
SuperiorCervicalGanglion4.65
TemporalLobe3.85
Testis3.6
TestisGermCell3.5
TestisIntersitial3.85
TestisLeydigCell4.15
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.35
Thyroid6.3
Tongue4.05
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.2
Uterus3.45
UterusCorpus3.7
WholeBlood4.65
Wholebrain3.55
colon4.2
pineal_day5.22
pineal_night5.12
retina5.15
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P923832
  • 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
Amygdala4.6 ± 0.8
Basal Forebrain4.28 ± 0.21
Basal Part of Pons4.15 ± 0.49
Cerebellar Cortex4.04 ± 0.48
Cerebellar Nuclei4.16 ± 0.69
Claustrum5.04 ± 0.73
Epithalamus3.36 ± 0.66
Frontal Lobe4.13 ± 0.59
Globus Pallidus4.15 ± 0.52
Hypothalamus3.9 ± 0.4
Insula3.89 ± 0.38
Limbic Lobe4.4 ± 0.62
Mesencephalon4.26 ± 0.49
Myelencephalon4.28 ± 0.62
Occipital Lobe4.55 ± 0.64
Parietal Lobe4.27 ± 0.7
Pontine Tegmentum4.14 ± 0.58
Striatum4.58 ± 0.58
Subthalamus4.02 ± 0.2
Temporal Lobe4.19 ± 0.66
Thalamus4.21 ± 0.46
White Matter3.6 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Adamts13CBCerebellum0.27
0.66
Adamts13CTXCerebral cortex0.82
1.51
Adamts13HIPHippocampal region0.37
0.47
Adamts13HPFHippocampal formation0.35
0.41
Adamts13HYHypothalamus0.16
0.32
Adamts13LSXLateral septal complex0.26
0.32
Adamts13MBMidbrain0.28
0.53
Adamts13MYMedulla0.3
0.32
Adamts13OLFOlfactory bulb0.29
0.42
Adamts13PPons0.08
0.09
Adamts13PALPallidum0.15
0.2
Adamts13RHPRetrohippocampal region0.31
0.33
Adamts13sAMYStriatum-like amygdalar nuclei0.14
0.16
Adamts13STRStriatum0.14
0.28
Adamts13STRdStriatum dorsal region0.14
0.13
Adamts13STRvStriatum ventral region0.04
0.83
Adamts13THThalamus0.19
0.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025837 25 1281 1305 IAIHALATNMGAGTEGANASYILIR 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


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