AutismKB 2.0

Annotation Detail for ASCC2


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Basic Information Top
Gene Symbol:ASCC2 ( ASC1p100 )
Gene Full Name: activating signal cointegrator 1 complex subunit 2
Band: 22q12.2
Quick LinksEntrez ID:84164; OMIM: NA; Uniprot ID:ASCC2_HUMAN; ENSEMBL ID: ENSG00000100325; HGNC ID: 24103
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 body4 / 7076156
blastocyst1 / 6231916
fetus36 / 56401263
neonate6 / 31097192
infant1 / 2362042
juvenile13 / 55556233
adult188 / 193912196
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) tumor17 / 94178180
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor18 / 114246157
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor26 / 26384598
glioma4 / 10688337
head and neck tumor20 / 136302146
kidney tumor4 / 6895958
leukemia15 / 95842156
liver tumor10 / 96359103
lung tumor13 / 103127126
lymphoma8 / 71755111
non-neoplasia5 / 9725051
normal225 / 336030766
ovarian tumor13 / 76682169
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS32 / 125680254
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder5 / 29757168
blood16 / 123478129
bone3 / 7165541
bone marrow0 / 488010 
brain47 / 110098942
cervix6 / 48171124
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye17 / 21105480
heart2 / 8962622
intestine30 / 234472127
kidney11 / 21177751
larynx0 / 241450 
liver18 / 20774386
lung23 / 33697468
lymph4 / 4427090
lymph node6 / 9161065
mammary gland17 / 153271110
mouth16 / 67052238
muscle7 / 10771564
nerve2 / 15768126
ovary17 / 102051166
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta41 / 280825145
prostate20 / 189345105
salivary gland2 / 2015599
skin13 / 21057461
spleen7 / 53952129
stomach3 / 9661931
testis24 / 33044272
thymus6 / 8113173
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus12 / 23287851
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215684_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts57.75
Adipocyte19.45
AdrenalCortex18.05
Adrenalgland20.75
Amygdala10.3
Appendix10.55
AtrioventricularNode9.9
BDCA4+_DentriticCells33.25
Bonemarrow49.1
BronchialEpithelialCells16.7
CD105+_Endothelial26.85
CD14+_Monocytes51.65
CD19+_BCells(neg._sel.)25.85
CD33+_Myeloid20.35
CD34+48.6
CD4+_Tcells36.05
CD56+_NKCells25.9
CD71+_EarlyErythroid354.55
CD8+_Tcells55.6
CardiacMyocytes17.55
Caudatenucleus10
Cerebellum9.2
CerebellumPeduncles14.55
CiliaryGanglion8.7
CingulateCortex11.9
Colorectaladenocarcinoma12.75
DorsalRootGanglion9.7
FetalThyroid14
Fetalbrain9.95
Fetalliver14.3
Fetallung10.55
GlobusPallidus8.65
Heart30.35
Hypothalamus11.5
Kidney16.3
Leukemia_chronicMyelogenousK-56213.9
Leukemia_promyelocytic-HL-6013.75
Leukemialymphoblastic(MOLT-4)18.7
Liver61.1
Lung24.7
Lymphnode10.5
Lymphoma_burkitts(Daudi)17.6
Lymphoma_burkitts(Raji)16.5
MedullaOblongata9.35
OccipitalLobe8.75
OlfactoryBulb10.1
Ovary7.5
Pancreas8.5
PancreaticIslet12
ParietalLobe13.5
Pituitary14.7
Placenta14.9
Pons10.65
PrefrontalCortex14.05
Prostate24.55
Salivarygland9.75
SkeletalMuscle24.3
Skin11.3
SmoothMuscle21.25
Spinalcord13.05
SubthalamicNucleus12
SuperiorCervicalGanglion13.85
TemporalLobe9.6
Testis42.25
TestisGermCell20.8
TestisIntersitial20.7
TestisLeydigCell18.35
TestisSeminiferousTubule13.9
Thalamus11.7
Thymus17.4
Thyroid22.85
Tongue15.55
Tonsil16
Trachea9.4
TrigeminalGanglion10.5
Uterus8.85
UterusCorpus11.6
WholeBlood21.5
Wholebrain8.15
colon11.75
pineal_day16.24
pineal_night14.96
retina17.65
small_intestine11.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10244_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
Amygdala2.49 ± 1.07
Basal Forebrain1.89 ± 0.28
Basal Part of Pons1.77 ± 0.45
Cerebellar Cortex2.06 ± 0.71
Cerebellar Nuclei2.32 ± 0.8
Claustrum2.88 ± 0.89
Epithalamus1.87 ± 0.8
Frontal Lobe1.86 ± 0.7
Globus Pallidus2.55 ± 0.52
Hypothalamus2.08 ± 0.72
Insula1.71 ± 0.42
Limbic Lobe2 ± 0.62
Mesencephalon2.28 ± 0.75
Myelencephalon2.08 ± 0.72
Occipital Lobe2.36 ± 0.89
Parietal Lobe2.05 ± 0.75
Pontine Tegmentum1.98 ± 0.65
Striatum2.14 ± 0.64
Subthalamus2.23 ± 0.68
Temporal Lobe1.92 ± 0.76
Thalamus1.93 ± 0.65
White Matter2.46 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ascc2CBCerebellum5.73
5.94
Ascc2CTXCerebral cortex23.08
15.13
Ascc2HIPHippocampal region29.12
33.79
Ascc2HPFHippocampal formation27.81
28.51
Ascc2HYHypothalamus17.06
13
Ascc2LSXLateral septal complex8.5
5.73
Ascc2MBMidbrain7.88
7.04
Ascc2MYMedulla15.71
17.71
Ascc2OLFOlfactory bulb42.07
30.77
Ascc2PPons14.25
13.65
Ascc2PALPallidum10.91
8.21
Ascc2RHPRetrohippocampal region25.95
20.82
Ascc2sAMYStriatum-like amygdalar nuclei31.17
21.4
Ascc2STRStriatum14.28
9.43
Ascc2STRdStriatum dorsal region8.33
5.21
Ascc2STRvStriatum ventral region31.31
20.24
Ascc2THThalamus10.07
8.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071432 17 101 117 KFDEGVASAPEVVDMQK 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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