AutismKB 2.0

Annotation Detail for CECR2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CECR2 ( KIAA1740 )
Gene Full Name: cat eye syndrome chromosome region, candidate 2
Band: 22q11.1-q11.21
Quick LinksEntrez ID:27443; OMIM: 607576; Uniprot ID:CECR2_HUMAN; ENSEMBL ID: ENSG00000099954; HGNC ID: 1840
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
blastocyst1 / 6231916
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult15 / 19391217
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P211326
  • 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
Amygdala5.93 ± 0.4
Basal Forebrain6.48 ± 0.27
Basal Part of Pons5.78 ± 0.54
Cerebellar Cortex6.68 ± 0.28
Cerebellar Nuclei6.27 ± 0.44
Claustrum5.76 ± 0.39
Epithalamus5.96 ± 0.48
Frontal Lobe5.94 ± 0.52
Globus Pallidus6.99 ± 0.86
Hypothalamus5.93 ± 0.21
Insula5.63 ± 0.3
Limbic Lobe5.99 ± 0.7
Mesencephalon6.34 ± 0.45
Myelencephalon6.11 ± 0.57
Occipital Lobe6.28 ± 0.55
Parietal Lobe5.87 ± 0.56
Pontine Tegmentum6.18 ± 0.47
Striatum6.5 ± 0.89
Subthalamus5.7 ± 0.41
Temporal Lobe5.89 ± 0.38
Thalamus6.38 ± 0.27
White Matter7.8 ± 0.42
Mouse Brain ISH
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