AutismKB 2.0

Annotation Detail for ASPSCR1


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Basic Information Top
Gene Symbol:ASPSCR1 ( ASPCR1,ASPL,ASPS,FLJ45380,RCC17,TUG,UBXD9,UBXN9 )
Gene Full Name: alveolar soft part sarcoma chromosome region, candidate 1
Band: 17q25.3
Quick LinksEntrez ID:79058; OMIM: 606236; Uniprot ID:ASPC1_HUMAN; ENSEMBL ID: ENSG00000169696; HGNC ID: 13825
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 body3 / 7076142
blastocyst4 / 6231964
fetus12 / 56401221
neonate0 / 310970 
infant2 / 2362084
juvenile2 / 5555635
adult87 / 193912144
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) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia10 / 95842104
liver tumor22 / 96359228
lung tumor8 / 10312777
lymphoma8 / 71755111
non-neoplasia1 / 9725010
normal118 / 336030735
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer8 / 10268077
retinoblastoma2 / 4635643
skin tumor14 / 124949112
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood13 / 123478105
bone3 / 7165541
bone marrow2 / 4880140
brain41 / 110098937
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye4 / 21105418
heart3 / 8962633
intestine6 / 23447225
kidney3 / 21177714
larynx1 / 2414541
liver22 / 207743105
lung11 / 33697432
lymph3 / 4427067
lymph node5 / 9161054
mammary gland4 / 15327126
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta24 / 28082585
prostate14 / 18934573
salivary gland0 / 201550 
skin15 / 21057471
spleen3 / 5395255
stomach3 / 9661931
testis5 / 33044215
thymus8 / 8113198
thyroid0 / 474730 
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218908_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.95
Adipocyte4.95
AdrenalCortex5.35
Adrenalgland4.25
Amygdala5.35
Appendix5.1
AtrioventricularNode4
BDCA4+_DentriticCells14.3
Bonemarrow4.95
BronchialEpithelialCells4.65
CD105+_Endothelial6.3
CD14+_Monocytes13.15
CD19+_BCells(neg._sel.)8.25
CD33+_Myeloid8.05
CD34+7.5
CD4+_Tcells6.1
CD56+_NKCells9.6
CD71+_EarlyErythroid6.2
CD8+_Tcells6.2
CardiacMyocytes6.35
Caudatenucleus4.55
Cerebellum4.1
CerebellumPeduncles5.85
CiliaryGanglion3.6
CingulateCortex5.1
Colorectaladenocarcinoma46.5
DorsalRootGanglion3.85
FetalThyroid4.95
Fetalbrain4.65
Fetalliver4.35
Fetallung3.95
GlobusPallidus3.7
Heart6.5
Hypothalamus5.55
Kidney4.15
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.5
Leukemialymphoblastic(MOLT-4)4.05
Liver25.3
Lung10.65
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.4
Lymphoma_burkitts(Raji)7.2
MedullaOblongata4.65
OccipitalLobe4.5
OlfactoryBulb4
Ovary3.3
Pancreas6.1
PancreaticIslet5.45
ParietalLobe5.3
Pituitary5.85
Placenta6.2
Pons4.8
PrefrontalCortex6.45
Prostate7.4
Salivarygland3.95
SkeletalMuscle5.85
Skin4.7
SmoothMuscle5.75
Spinalcord5.25
SubthalamicNucleus4.7
SuperiorCervicalGanglion5.65
TemporalLobe4.6
Testis4.4
TestisGermCell4.85
TestisIntersitial4.25
TestisLeydigCell5.05
TestisSeminiferousTubule4.5
Thalamus5.15
Thymus4.05
Thyroid7.95
Tongue4.9
Tonsil4.9
Trachea4.1
TrigeminalGanglion5.05
Uterus4.05
UterusCorpus4.45
WholeBlood5.2
Wholebrain4.4
colon5.1
pineal_day7.18
pineal_night6.46
retina6.925
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P32320
  • 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
Amygdala5.05 ± 0.34
Basal Forebrain5.13 ± 0.41
Basal Part of Pons5.69 ± 0.32
Cerebellar Cortex5.5 ± 0.36
Cerebellar Nuclei5.23 ± 0.46
Claustrum4.96 ± 0.72
Epithalamus5.26 ± 0.21
Frontal Lobe5.22 ± 0.48
Globus Pallidus4.79 ± 0.39
Hypothalamus5.02 ± 0.51
Insula4.94 ± 0.46
Limbic Lobe5.1 ± 0.54
Mesencephalon5.01 ± 0.47
Myelencephalon5.1 ± 0.52
Occipital Lobe4.85 ± 0.42
Parietal Lobe5.15 ± 0.46
Pontine Tegmentum4.98 ± 0.45
Striatum4.85 ± 0.47
Subthalamus5.15 ± 0.39
Temporal Lobe5.09 ± 0.47
Thalamus5.16 ± 0.39
White Matter5.22 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aspscr1OLFOlfactory bulb13.03
10.42
Aspscr1sAMYStriatum-like amygdalar nuclei5.27
3.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASPC1_HUMAN_2 19 2 20 AAPAGGGGSAVSVLAPNGR PRIDE
PAp00025333 22 210 231 GDLSRPEDADTSGPCCEHTQEK 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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