AutismKB 2.0

Annotation Detail for ADSS


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Basic Information Top
Gene Symbol:ADSS ( ADEH,MGC20404 )
Gene Full Name: adenylosuccinate synthase
Band: 1q44
Quick LinksEntrez ID:159; OMIM: 103060; Uniprot ID:PURA2_HUMAN; ENSEMBL ID: ENSG00000035687; HGNC ID: 292
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 body6 / 7076184
blastocyst2 / 6231932
fetus38 / 56401267
neonate12 / 31097385
infant4 / 23620169
juvenile8 / 55556143
adult142 / 193912173
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor4 / 17290231
gastrointestinal tumor3 / 11936925
germ cell tumor44 / 263845166
glioma5 / 10688346
head and neck tumor9 / 13630266
kidney tumor6 / 6895987
leukemia12 / 95842125
liver tumor9 / 9635993
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia6 / 9725061
normal283 / 336030784
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer5 / 10268048
retinoblastoma6 / 46356129
skin tumor4 / 12494932
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder6 / 29757201
blood19 / 123478153
bone3 / 7165541
bone marrow7 / 48801143
brain83 / 110098975
cervix2 / 4817141
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue15 / 21572269
esophagus4 / 20209197
eye19 / 21105490
heart6 / 8962666
intestine8 / 23447234
kidney16 / 21177775
larynx0 / 241450 
liver10 / 20774348
lung22 / 33697465
lymph1 / 4427022
lymph node11 / 91610120
mammary gland9 / 15327158
mouth4 / 6705259
muscle3 / 10771527
nerve0 / 157680 
ovary7 / 10205168
pancreas10 / 21481246
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta10 / 28082535
prostate17 / 18934589
salivary gland0 / 201550 
skin19 / 21057490
spleen9 / 53952166
stomach4 / 9661941
testis76 / 330442229
thymus6 / 8113173
thyroid5 / 47473105
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord2 / 13680146
uterus28 / 232878120
vascular18 / 51780347
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221761_at
Cell line Expression level Expression bar
721_B_lymphoblasts90.35
Adipocyte7.8
AdrenalCortex7.05
Adrenalgland6.7
Amygdala107.45
Appendix12.45
AtrioventricularNode5.85
BDCA4+_DentriticCells43.3
Bonemarrow23.15
BronchialEpithelialCells29
CD105+_Endothelial22.85
CD14+_Monocytes37.7
CD19+_BCells(neg._sel.)47.35
CD33+_Myeloid81.45
CD34+77.35
CD4+_Tcells48.35
CD56+_NKCells101.3
CD71+_EarlyErythroid10.85
CD8+_Tcells69.2
CardiacMyocytes19.85
Caudatenucleus9.25
Cerebellum6.85
CerebellumPeduncles9.6
CiliaryGanglion6.4
CingulateCortex15.95
Colorectaladenocarcinoma9.75
DorsalRootGanglion8.65
FetalThyroid9.65
Fetalbrain22
Fetalliver8.85
Fetallung11.65
GlobusPallidus12
Heart8.75
Hypothalamus33.25
Kidney7.5
Leukemia_chronicMyelogenousK-56238.3
Leukemia_promyelocytic-HL-6021.7
Leukemialymphoblastic(MOLT-4)17.35
Liver7.45
Lung4.95
Lymphnode11.9
Lymphoma_burkitts(Daudi)27.35
Lymphoma_burkitts(Raji)11.7
MedullaOblongata11.4
OccipitalLobe19.3
OlfactoryBulb6.15
Ovary5.9
Pancreas5.65
PancreaticIslet9.85
ParietalLobe11.45
Pituitary13.65
Placenta17.5
Pons7.4
PrefrontalCortex20.5
Prostate27.4
Salivarygland14.25
SkeletalMuscle7.75
Skin5.2
SmoothMuscle17.65
Spinalcord13.05
SubthalamicNucleus7.4
SuperiorCervicalGanglion10.35
TemporalLobe8.8
Testis21.95
TestisGermCell87.35
TestisIntersitial21.5
TestisLeydigCell23.55
TestisSeminiferousTubule38.15
Thalamus19.85
Thymus6.8
Thyroid34.25
Tongue6.75
Tonsil10.3
Trachea25.25
TrigeminalGanglion9.45
Uterus24.2
UterusCorpus6.3
WholeBlood35.25
Wholebrain21.5
colon51.6
pineal_day20.62
pineal_night17.52
retina22.725
small_intestine51.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P201432
  • 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
Amygdala5.95 ± 0.43
Basal Forebrain5.99 ± 0.5
Basal Part of Pons6.77 ± 0.2
Cerebellar Cortex6.11 ± 0.27
Cerebellar Nuclei6.75 ± 0.4
Claustrum5.76 ± 0.61
Epithalamus6.54 ± 0.17
Frontal Lobe6.46 ± 0.35
Globus Pallidus6.36 ± 0.42
Hypothalamus6.39 ± 0.38
Insula6.55 ± 0.3
Limbic Lobe6.19 ± 0.51
Mesencephalon6.14 ± 0.57
Myelencephalon6.25 ± 0.53
Occipital Lobe5.97 ± 0.55
Parietal Lobe6.27 ± 0.45
Pontine Tegmentum6.31 ± 0.38
Striatum5.66 ± 0.43
Subthalamus6.34 ± 0.95
Temporal Lobe6.49 ± 0.38
Thalamus6.4 ± 0.39
White Matter7.06 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AdssCBCerebellum1.18
1.4
AdssCTXCerebral cortex5.16
1.59
AdssHIPHippocampal region2.4
1.53
AdssHPFHippocampal formation1.84
0.99
AdssHYHypothalamus0.19
0.09
AdssLSXLateral septal complex0
0
AdssMBMidbrain0.85
0.49
AdssMYMedulla5.09
2.84
AdssOLFOlfactory bulb2
0.64
AdssPPons1.41
0.7
AdssPALPallidum0.75
0.62
AdssRHPRetrohippocampal region1.07
0.39
AdsssAMYStriatum-like amygdalar nuclei0.15
0.11
AdssSTRStriatum0.79
0.44
AdssSTRdStriatum dorsal region0.66
0.4
AdssSTRvStriatum ventral region1.78
0.85
AdssTHThalamus0.84
0.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000403 19 133 151 AHIVFDFHQAADGIQEQQR Peptide Atlas
PURA2_HUMAN_152 25 152 176 QEQAGKNLGTTKKGIGPVYSSKAAR PRIDE
PURA2_HUMAN_362 11 362 372 LDILDMFTEIK PRIDE
PURA2_HUMAN_430 11 430 440 FIEDELQIPVK 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


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