AutismKB 2.0

Annotation Detail for ADAM17


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ADAM17 ( ADAM18,CD156B,CSVP,MGC71942,TACE )
Gene Full Name: ADAM metallopeptidase domain 17
Band: 2p25.1
Quick LinksEntrez ID:6868; OMIM: 603639; Uniprot ID:ADA17_HUMAN; ENSEMBL ID: ENSG00000151694; HGNC ID: 195
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
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult36 / 193912118
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal42 / 336030712
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 tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain8 / 11009897
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland6 / 15327139
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis4 / 33044212
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205746_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.7
Adipocyte5.75
AdrenalCortex6.75
Adrenalgland5.3
Amygdala5.95
Appendix6.65
AtrioventricularNode5.15
BDCA4+_DentriticCells5.95
Bonemarrow6.2
BronchialEpithelialCells5.75
CD105+_Endothelial5.85
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)6
CD33+_Myeloid7.4
CD34+7.2
CD4+_Tcells6.05
CD56+_NKCells6.6
CD71+_EarlyErythroid5.55
CD8+_Tcells5.35
CardiacMyocytes8.1
Caudatenucleus5.3
Cerebellum4.8
CerebellumPeduncles6.95
CiliaryGanglion4.7
CingulateCortex6.15
Colorectaladenocarcinoma6.1
DorsalRootGanglion4.95
FetalThyroid5.75
Fetalbrain5.9
Fetalliver5.25
Fetallung4.95
GlobusPallidus4.5
Heart7.8
Hypothalamus6.2
Kidney5.2
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.75
Liver8.4
Lung6.4
Lymphnode5.05
Lymphoma_burkitts(Daudi)7.75
Lymphoma_burkitts(Raji)8.65
MedullaOblongata5.35
OccipitalLobe5.25
OlfactoryBulb4.65
Ovary4.2
Pancreas4.85
PancreaticIslet6.3
ParietalLobe6.45
Pituitary6.9
Placenta6.2
Pons5.85
PrefrontalCortex7.15
Prostate6.7
Salivarygland4.85
SkeletalMuscle8.45
Skin4.95
SmoothMuscle6.65
Spinalcord6.3
SubthalamicNucleus5.5
SuperiorCervicalGanglion7.85
TemporalLobe5.55
Testis5.3
TestisGermCell5
TestisIntersitial5.05
TestisLeydigCell6.25
TestisSeminiferousTubule5.1
Thalamus6
Thymus4.5
Thyroid7.15
Tongue6.2
Tonsil5.85
Trachea4.9
TrigeminalGanglion6.7
Uterus4.65
UterusCorpus5.8
WholeBlood6.4
Wholebrain4.8
colon5.9
pineal_day7.14
pineal_night7.08
retina7.125
small_intestine5.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P143120
  • 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
Amygdala6.26 ± 0.37
Basal Forebrain6.68 ± 0.23
Basal Part of Pons6.13 ± 0.33
Cerebellar Cortex6.24 ± 0.24
Cerebellar Nuclei6.42 ± 0.4
Claustrum6.22 ± 0.49
Epithalamus6.66 ± 0.46
Frontal Lobe6.3 ± 0.31
Globus Pallidus6.92 ± 0.29
Hypothalamus6.43 ± 0.53
Insula6.3 ± 0.29
Limbic Lobe6.24 ± 0.33
Mesencephalon6.52 ± 0.27
Myelencephalon6.38 ± 0.33
Occipital Lobe6.57 ± 0.25
Parietal Lobe6.32 ± 0.28
Pontine Tegmentum6.25 ± 0.34
Striatum6.39 ± 0.25
Subthalamus6.19 ± 0.07
Temporal Lobe6.25 ± 0.31
Thalamus6.34 ± 0.29
White Matter7.4 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Adam17CBCerebellum2.95
4.6
Adam17CTXCerebral cortex2.94
2.57
Adam17HIPHippocampal region0.6
0.56
Adam17HPFHippocampal formation0.72
0.62
Adam17HYHypothalamus0.39
0.24
Adam17LSXLateral septal complex1.04
0.82
Adam17MBMidbrain1.49
1.65
Adam17MYMedulla1.99
1.82
Adam17OLFOlfactory bulb2.56
1.98
Adam17PPons0.86
0.75
Adam17PALPallidum0.63
0.61
Adam17RHPRetrohippocampal region0.87
0.73
Adam17sAMYStriatum-like amygdalar nuclei0.39
0.13
Adam17STRStriatum0.89
0.73
Adam17STRdStriatum dorsal region0.95
0.76
Adam17STRvStriatum ventral region0.97
0.94
Adam17THThalamus1.15
1.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ADA17_HUMAN_18 14 18 31 PRPPDDPGFGPHQR PRIDE
PAp00095644 35 398 432 EADLVTTHELGHNFGAEHDPDGLAECAPNEDQGGK 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