AutismKB 2.0

Annotation Detail for CIR1


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Basic Information Top
Gene Symbol:CIR1 ( CIR )
Gene Full Name: corepressor interacting with RBPJ, 1
Band: 2q31.1
Quick LinksEntrez ID:9541; OMIM: 605228; Uniprot ID:CIR1_HUMAN; ENSEMBL ID: ENSG00000138433; HGNC ID: 24217
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 body2 / 7076128
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult79 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal107 / 336030731
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood2 / 12347816
bone6 / 7165583
bone marrow2 / 4880140
brain14 / 110098912
cervix1 / 4817120
connective tissue4 / 14925526
ear5 / 16212308
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye5 / 21105423
heart0 / 896260 
intestine9 / 23447238
kidney14 / 21177766
larynx0 / 241450 
liver10 / 20774348
lung18 / 33697453
lymph1 / 4427022
lymph node1 / 9161010
mammary gland6 / 15327139
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas10 / 21481246
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta15 / 28082553
prostate9 / 18934547
salivary gland1 / 2015549
skin2 / 2105749
spleen0 / 539520 
stomach5 / 9661951
testis7 / 33044221
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209571_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.8
Adipocyte12.35
AdrenalCortex14.25
Adrenalgland11.25
Amygdala13.3
Appendix13.4
AtrioventricularNode10.7
BDCA4+_DentriticCells17.15
Bonemarrow13.1
BronchialEpithelialCells10.25
CD105+_Endothelial17.1
CD14+_Monocytes18.55
CD19+_BCells(neg._sel.)18.2
CD33+_Myeloid17.1
CD34+15.95
CD4+_Tcells14.3
CD56+_NKCells19.85
CD71+_EarlyErythroid21.4
CD8+_Tcells29.15
CardiacMyocytes21.15
Caudatenucleus11.3
Cerebellum10.45
CerebellumPeduncles14.7
CiliaryGanglion9.95
CingulateCortex13.55
Colorectaladenocarcinoma26.7
DorsalRootGanglion10.2
FetalThyroid12.65
Fetalbrain18.8
Fetalliver21.55
Fetallung10.3
GlobusPallidus9.85
Heart18.5
Hypothalamus13.45
Kidney11
Leukemia_chronicMyelogenousK-56213.5
Leukemia_promyelocytic-HL-6011.25
Leukemialymphoblastic(MOLT-4)10.5
Liver19.5
Lung9.7
Lymphnode10.5
Lymphoma_burkitts(Daudi)16.8
Lymphoma_burkitts(Raji)18.5
MedullaOblongata12.75
OccipitalLobe13.2
OlfactoryBulb10.55
Ovary9
Pancreas10.7
PancreaticIslet16.15
ParietalLobe16.15
Pituitary14.8
Placenta9.4
Pons12.45
PrefrontalCortex17.65
Prostate12.1
Salivarygland10.3
SkeletalMuscle16.7
Skin10.6
SmoothMuscle13.9
Spinalcord13.6
SubthalamicNucleus12
SuperiorCervicalGanglion15.75
TemporalLobe11.95
Testis10.95
TestisGermCell17.7
TestisIntersitial13.3
TestisLeydigCell17.45
TestisSeminiferousTubule11.45
Thalamus13.6
Thymus9.4
Thyroid17.05
Tongue13
Tonsil12.7
Trachea10.55
TrigeminalGanglion13.55
Uterus11.7
UterusCorpus13.9
WholeBlood68
Wholebrain8.25
colon12.85
pineal_day22.76
pineal_night15.6
retina15.25
small_intestine12.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8340_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
Amygdala9.64 ± 0.13
Basal Forebrain9.48 ± 0.21
Basal Part of Pons9.57 ± 0.26
Cerebellar Cortex9.59 ± 0.25
Cerebellar Nuclei9.43 ± 0.18
Claustrum9.62 ± 0.27
Epithalamus9.85 ± 0.34
Frontal Lobe9.56 ± 0.22
Globus Pallidus9.58 ± 0.2
Hypothalamus9.49 ± 0.18
Insula9.73 ± 0.31
Limbic Lobe9.55 ± 0.22
Mesencephalon9.53 ± 0.19
Myelencephalon9.54 ± 0.23
Occipital Lobe9.67 ± 0.23
Parietal Lobe9.59 ± 0.19
Pontine Tegmentum9.56 ± 0.22
Striatum9.57 ± 0.22
Subthalamus9.58 ± 0.19
Temporal Lobe9.53 ± 0.19
Thalamus9.5 ± 0.18
White Matter10.06 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1700023B02RikCBCerebellum100
100
1700023B02RikCTXCerebral cortex100
100
1700023B02RikHIPHippocampal region100
100
1700023B02RikHPFHippocampal formation100
100
1700023B02RikHYHypothalamus100
100
1700023B02RikLSXLateral septal complex100
100
1700023B02RikMBMidbrain100
100
1700023B02RikMYMedulla100
100
1700023B02RikOLFOlfactory bulb100
100
1700023B02RikPPons100
100
1700023B02RikPALPallidum100
100
1700023B02RikRHPRetrohippocampal region100
100
1700023B02RiksAMYStriatum-like amygdalar nuclei100
100
1700023B02RikSTRStriatum100
100
1700023B02RikSTRdStriatum dorsal region100
100
1700023B02RikSTRvStriatum ventral region100
100
1700023B02RikTHThalamus100
100
Peptide Top

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