AutismKB 2.0

Annotation Detail for CECR1


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Basic Information Top
Gene Symbol:CECR1 ( ADA2,ADGF,IDGFL )
Gene Full Name: cat eye syndrome chromosome region, candidate 1
Band: 22q11.2
Quick LinksEntrez ID:51816; OMIM: 607575; Uniprot ID:CECR1_HUMAN; ENSEMBL ID: ENSG00000093072; HGNC ID:
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
blastocyst14 / 62319224
fetus19 / 56401233
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult60 / 193912130
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia38 / 97250390
normal169 / 336030750
ovarian tumor10 / 76682130
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone0 / 716550 
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue42 / 149255281
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye5 / 21105423
heart2 / 8962622
intestine3 / 23447212
kidney5 / 21177723
larynx1 / 2414541
liver1 / 2077434
lung18 / 33697453
lymph0 / 442700 
lymph node7 / 9161076
mammary gland3 / 15327119
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary11 / 102051107
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen17 / 53952315
stomach2 / 9661920
testis20 / 33044260
thymus34 / 81131419
thyroid0 / 474730 
tonsil0 / 169990 
trachea19 / 52413362
umbilical cord0 / 136800 
uterus21 / 23287890
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219505_at
Cell line Expression level Expression bar
721_B_lymphoblasts74.95
Adipocyte3.9
AdrenalCortex4.2
Adrenalgland3.5
Amygdala4.1
Appendix4.15
AtrioventricularNode3.15
BDCA4+_DentriticCells1052.2
Bonemarrow32.05
BronchialEpithelialCells3.65
CD105+_Endothelial6.1
CD14+_Monocytes1434.95
CD19+_BCells(neg._sel.)95.55
CD33+_Myeloid1505.85
CD34+49.5
CD4+_Tcells186.15
CD56+_NKCells381.35
CD71+_EarlyErythroid3.6
CD8+_Tcells148.3
CardiacMyocytes4.55
Caudatenucleus3.35
Cerebellum3.1
CerebellumPeduncles4.5
CiliaryGanglion2.9
CingulateCortex3.8
Colorectaladenocarcinoma3.6
DorsalRootGanglion3.1
FetalThyroid32.3
Fetalbrain3.65
Fetalliver3.15
Fetallung4.65
GlobusPallidus2.95
Heart62.2
Hypothalamus6.05
Kidney3.05
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.45
Leukemialymphoblastic(MOLT-4)13
Liver5.45
Lung193.3
Lymphnode172.8
Lymphoma_burkitts(Daudi)5.3
Lymphoma_burkitts(Raji)7.35
MedullaOblongata3.75
OccipitalLobe3.35
OlfactoryBulb7.65
Ovary2.7
Pancreas3.35
PancreaticIslet6
ParietalLobe4.15
Pituitary5.3
Placenta4.35
Pons3.8
PrefrontalCortex4.55
Prostate6.15
Salivarygland9.45
SkeletalMuscle4.35
Skin3.1
SmoothMuscle4.45
Spinalcord20.9
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.5
TemporalLobe3.6
Testis3.55
TestisGermCell4.05
TestisIntersitial3.5
TestisLeydigCell4.1
TestisSeminiferousTubule3.45
Thalamus4.05
Thymus178.25
Thyroid6.05
Tongue3.95
Tonsil39.4
Trachea13.4
TrigeminalGanglion4
Uterus5.3
UterusCorpus3.65
WholeBlood516.15
Wholebrain3.35
colon3.6
pineal_day6.96
pineal_night5.26
retina11.9
small_intestine7.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P68773
  • 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
Amygdala1.96 ± 0.98
Basal Forebrain1.51 ± 0.2
Basal Part of Pons1.2 ± 0.34
Cerebellar Cortex1.24 ± 0.45
Cerebellar Nuclei1.78 ± 0.72
Claustrum2.3 ± 0.76
Epithalamus1.68 ± 0.63
Frontal Lobe1.38 ± 0.56
Globus Pallidus2.74 ± 0.63
Hypothalamus1.57 ± 0.74
Insula1.49 ± 0.64
Limbic Lobe1.56 ± 0.65
Mesencephalon1.7 ± 0.67
Myelencephalon1.57 ± 0.61
Occipital Lobe1.46 ± 0.52
Parietal Lobe1.56 ± 0.72
Pontine Tegmentum1.6 ± 0.7
Striatum1.72 ± 0.68
Subthalamus1.68 ± 0.59
Temporal Lobe1.46 ± 0.61
Thalamus1.5 ± 0.57
White Matter2.15 ± 0.23
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CECR1_HUMAN_0 0 0 0 LVLNTKEELANER PRIDE
PAp00027004 12 370 381 NILDALMLNTTR 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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