AutismKB 2.0

Annotation Detail for ASS1


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Basic Information Top
Gene Symbol:ASS1 ( ASS,CTLN1 )
Gene Full Name: argininosuccinate synthase 1
Band: 9q34.11
Quick LinksEntrez ID:445; OMIM: 603470; Uniprot ID:ASSY_HUMAN; ENSEMBL ID: ENSG00000130707; HGNC ID: 758
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 body5 / 7076170
blastocyst3 / 6231948
fetus65 / 564012115
neonate0 / 310970 
infant8 / 23620338
juvenile14 / 55556251
adult274 / 1939121141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor114 / 343663317
chondrosarcoma3 / 8282336
colorectal tumor53 / 114246463
esophageal tumor0 / 172900 
gastrointestinal tumor19 / 119369159
germ cell tumor16 / 26384560
glioma27 / 106883252
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor10 / 96359103
lung tumor47 / 103127455
lymphoma7 / 7175597
non-neoplasia14 / 97250143
normal279 / 336030783
ovarian tumor26 / 76682339
pancreatic tumor23 / 104616219
primitive neuroectodermal tumor of the CNS70 / 125680556
prostate cancer5 / 10268048
retinoblastoma41 / 46356884
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor64 / 125191511
uterine tumor27 / 90257299
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland3 / 3319790
ascites3 / 4001574
bladder1 / 2975733
blood15 / 123478121
bone14 / 71655195
bone marrow0 / 488010 
brain97 / 110098988
cervix118 / 481712449
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye48 / 211054227
heart12 / 89626133
intestine69 / 234472294
kidney21 / 21177799
larynx0 / 241450 
liver39 / 207743187
lung68 / 336974201
lymph0 / 442700 
lymph node3 / 9161032
mammary gland18 / 153271117
mouth3 / 6705244
muscle67 / 107715622
nerve2 / 15768126
ovary29 / 102051284
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta31 / 280825110
prostate17 / 18934589
salivary gland0 / 201550 
skin15 / 21057471
spleen2 / 5395237
stomach19 / 96619196
testis18 / 33044254
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus39 / 232878167
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207076_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts50.35
Adipocyte1570.45
AdrenalCortex317.45
Adrenalgland530.75
Amygdala229.4
Appendix214.5
AtrioventricularNode132.6
BDCA4+_DentriticCells11.25
Bonemarrow44.05
BronchialEpithelialCells608.15
CD105+_Endothelial11.8
CD14+_Monocytes11.4
CD19+_BCells(neg._sel.)13.75
CD33+_Myeloid15.3
CD34+25.45
CD4+_Tcells13.35
CD56+_NKCells9.8
CD71+_EarlyErythroid8.35
CD8+_Tcells10.5
CardiacMyocytes164.85
Caudatenucleus57.05
Cerebellum102.8
CerebellumPeduncles129.2
CiliaryGanglion103.65
CingulateCortex134.5
Colorectaladenocarcinoma1407.2
DorsalRootGanglion75.8
FetalThyroid258.2
Fetalbrain40.9
Fetalliver2366.2
Fetallung1695.35
GlobusPallidus72.95
Heart290.85
Hypothalamus205.65
Kidney9706.75
Leukemia_chronicMyelogenousK-562410.05
Leukemia_promyelocytic-HL-6038.5
Leukemialymphoblastic(MOLT-4)344.6
Liver16370.85
Lung439.8
Lymphnode70.05
Lymphoma_burkitts(Daudi)50.95
Lymphoma_burkitts(Raji)1466.6
MedullaOblongata160.8
OccipitalLobe127.05
OlfactoryBulb106.75
Ovary195
Pancreas278.6
PancreaticIslet213.65
ParietalLobe119.55
Pituitary199.85
Placenta148.35
Pons146.15
PrefrontalCortex183.5
Prostate542.2
Salivarygland251.7
SkeletalMuscle195.6
Skin130.05
SmoothMuscle358.7
Spinalcord143.5
SubthalamicNucleus111
SuperiorCervicalGanglion197.55
TemporalLobe174.75
Testis325.75
TestisGermCell258.5
TestisIntersitial141.25
TestisLeydigCell258.15
TestisSeminiferousTubule199.25
Thalamus62.6
Thymus122.95
Thyroid997.25
Tongue155.75
Tonsil110.85
Trachea425.05
TrigeminalGanglion154.55
Uterus309.05
UterusCorpus174.45
WholeBlood49.25
Wholebrain251.5
colon1120.65
pineal_day911.24
pineal_night1187.8
retina586.9
small_intestine508
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_3589_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
Amygdala3.46 ± 0.87
Basal Forebrain3.45 ± 0.59
Basal Part of Pons2.37 ± 0.75
Cerebellar Cortex2.88 ± 0.98
Cerebellar Nuclei2.89 ± 0.67
Claustrum3.53 ± 1.07
Epithalamus2.64 ± 0.97
Frontal Lobe3.04 ± 0.81
Globus Pallidus2.37 ± 0.57
Hypothalamus3.37 ± 0.5
Insula2.83 ± 0.81
Limbic Lobe2.92 ± 0.7
Mesencephalon2.92 ± 0.8
Myelencephalon2.91 ± 0.82
Occipital Lobe2.16 ± 0.77
Parietal Lobe3 ± 0.86
Pontine Tegmentum3.25 ± 0.82
Striatum2.28 ± 0.92
Subthalamus2.92 ± 0.55
Temporal Lobe3.12 ± 0.66
Thalamus2.63 ± 0.67
White Matter1.79 ± 0.49
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASSY_HUMAN_127 13 127 139 FELSCYSLAPQIK PRIDE
ASSY_HUMAN_146 7 146 152 MPEFYNR PRIDE
ASSY_HUMAN_155 10 155 164 GRNDLMEYAK PRIDE
ASSY_HUMAN_209 19 209 227 TQDPAKAPNTPDILEIEFK PRIDE
ASSY_HUMAN_279 28 279 306 GIYETPAGTILYHAHLDIEAFTMDREVR PRIDE
ASSY_HUMAN_316 19 316 334 FAELVYTGFWHSPECEFVR PRIDE
PAp00002377 13 128 140 FELSCYSLAPQIK 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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