AutismKB 2.0

Annotation Detail for ADSL


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Basic Information Top
Gene Symbol:ADSL ( AMPS,ASASE,ASL )
Gene Full Name: adenylosuccinate lyase
Band: 22q13.1
Quick LinksEntrez ID:158; OMIM: 608222; Uniprot ID:PUR8_HUMAN; ENSEMBL ID: ENSG00000100354,ENSG00000239900; HGNC ID: 291
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
blastocyst9 / 62319144
fetus40 / 56401270
neonate1 / 3109732
infant6 / 23620254
juvenile18 / 55556323
adult130 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor6 / 34366174
chondrosarcoma7 / 8282384
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor15 / 119369125
germ cell tumor28 / 263845106
glioma4 / 10688337
head and neck tumor7 / 13630251
kidney tumor7 / 68959101
leukemia17 / 95842177
liver tumor21 / 96359217
lung tumor16 / 103127155
lymphoma14 / 71755195
non-neoplasia1 / 9725010
normal245 / 336030772
ovarian tumor7 / 7668291
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS34 / 125680270
prostate cancer2 / 10268019
retinoblastoma9 / 46356194
skin tumor17 / 124949136
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites5 / 40015124
bladder2 / 2975767
blood15 / 123478121
bone4 / 7165555
bone marrow3 / 4880161
brain53 / 110098948
cervix6 / 48171124
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue31 / 215722143
esophagus1 / 2020949
eye19 / 21105490
heart9 / 89626100
intestine21 / 23447289
kidney23 / 211777108
larynx0 / 241450 
liver24 / 207743115
lung32 / 33697494
lymph4 / 4427090
lymph node5 / 9161054
mammary gland9 / 15327158
mouth1 / 6705214
muscle13 / 107715120
nerve0 / 157680 
ovary8 / 10205178
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta38 / 280825135
prostate12 / 18934563
salivary gland4 / 20155198
skin25 / 210574118
spleen2 / 5395237
stomach6 / 9661962
testis25 / 33044275
thymus2 / 8113124
thyroid2 / 4747342
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus24 / 232878103
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210250_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts54.2
Adipocyte3.65
AdrenalCortex3.5
Adrenalgland3
Amygdala3.65
Appendix3.4
AtrioventricularNode2.5
BDCA4+_DentriticCells13.05
Bonemarrow3.5
BronchialEpithelialCells13.65
CD105+_Endothelial39.75
CD14+_Monocytes11.55
CD19+_BCells(neg._sel.)12.75
CD33+_Myeloid8.1
CD34+32.85
CD4+_Tcells21.4
CD56+_NKCells5.6
CD71+_EarlyErythroid5.1
CD8+_Tcells17.15
CardiacMyocytes6.45
Caudatenucleus3.1
Cerebellum2.8
CerebellumPeduncles3.9
CiliaryGanglion2.4
CingulateCortex3.5
Colorectaladenocarcinoma4
DorsalRootGanglion2.65
FetalThyroid4.15
Fetalbrain3.55
Fetalliver3.05
Fetallung3.55
GlobusPallidus2.5
Heart6.15
Hypothalamus3.85
Kidney2.8
Leukemia_chronicMyelogenousK-5629.75
Leukemia_promyelocytic-HL-6015.9
Leukemialymphoblastic(MOLT-4)14.2
Liver4.65
Lung4
Lymphnode3.3
Lymphoma_burkitts(Daudi)41.1
Lymphoma_burkitts(Raji)4.95
MedullaOblongata3.2
OccipitalLobe3.1
OlfactoryBulb2.75
Ovary2.35
Pancreas2.85
PancreaticIslet5.15
ParietalLobe3.65
Pituitary4.3
Placenta4.6
Pons3.3
PrefrontalCortex4.2
Prostate4.2
Salivarygland2.85
SkeletalMuscle4.85
Skin2.6
SmoothMuscle4.65
Spinalcord3.7
SubthalamicNucleus3.1
SuperiorCervicalGanglion3.8
TemporalLobe3.05
Testis4.4
TestisGermCell3.5
TestisIntersitial3.2
TestisLeydigCell3.45
TestisSeminiferousTubule4.1
Thalamus3.5
Thymus7.95
Thyroid4.55
Tongue4.9
Tonsil3.65
Trachea2.8
TrigeminalGanglion3.4
Uterus3.35
UterusCorpus3.75
WholeBlood4
Wholebrain3.15
colon3.6
pineal_day4.46
pineal_night4.36
retina4.9
small_intestine5.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13293_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
Amygdala5.45 ± 0.64
Basal Forebrain5.31 ± 0.4
Basal Part of Pons5.68 ± 0.49
Cerebellar Cortex5.79 ± 0.43
Cerebellar Nuclei5.23 ± 0.58
Claustrum5.07 ± 0.79
Epithalamus5.33 ± 0.58
Frontal Lobe5.63 ± 0.47
Globus Pallidus4.84 ± 0.46
Hypothalamus5.56 ± 0.57
Insula5.79 ± 0.37
Limbic Lobe5.44 ± 0.5
Mesencephalon5.41 ± 0.55
Myelencephalon5.4 ± 0.56
Occipital Lobe5.07 ± 0.45
Parietal Lobe5.34 ± 0.47
Pontine Tegmentum5.45 ± 0.5
Striatum5.25 ± 0.48
Subthalamus5.46 ± 0.42
Temporal Lobe5.61 ± 0.48
Thalamus5.35 ± 0.52
White Matter5.26 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AdslCBCerebellum7.28
10.25
AdslCTXCerebral cortex8.21
6.79
AdslHIPHippocampal region9.79
11.43
AdslHPFHippocampal formation9.73
10.25
AdslHYHypothalamus0.11
0.12
AdslLSXLateral septal complex1.47
1.65
AdslMBMidbrain0.88
1.61
AdslMYMedulla0.54
0.69
AdslOLFOlfactory bulb3.29
3.77
AdslPPons1.64
3.16
AdslPALPallidum0.09
0.15
AdslRHPRetrohippocampal region9.86
8.83
AdslsAMYStriatum-like amygdalar nuclei0.09
0.05
AdslSTRStriatum0.44
0.62
AdslSTRdStriatum dorsal region0.52
0.82
AdslSTRvStriatum ventral region0.19
0.17
AdslTHThalamus1.15
1.86
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00032610 21 150 170 ASLPTLGFTHFQPAQLTTVGK Peptide Atlas
PUR8_HUMAN_126 12 126 137 NALDLLLPKLAR PRIDE
PUR8_HUMAN_130 8 130 137 LLLPKLAR PRIDE
PUR8_HUMAN_2 13 2 14 AAGGDHGSPDSYR PRIDE
PUR8_HUMAN_234 11 234 244 AFIITGQTYTR PRIDE
PUR8_HUMAN_245 19 245 263 KVDIEVLSVLASLGASVHK PRIDE
PUR8_HUMAN_285 11 285 295 QQIGSSAMPYK PRIDE
PUR8_HUMAN_372 19 372 390 IRQELPFMATENIIMAMVK PRIDE
PUR8_HUMAN_397 8 397 404 QDCHEKIR PRIDE
PUR8_HUMAN_404 11 404 414 VLSQQAASVVK PRIDE
PUR8_HUMAN_404 22 404 425 VLSQQAASVVKQEGGDNDLIER PRIDE
PUR8_HUMAN_426 26 426 451 IQVDAYFSPIHSQLDHLLDPSSFTGR 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