AutismKB 2.0

Annotation Detail for C2CD3


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Basic Information Top
Gene Symbol:C2CD3 ( DKFZp586P0123,FLJ34770 )
Gene Full Name: C2 calcium-dependent domain containing 3
Band: 11q13.4
Quick LinksEntrez ID:26005; OMIM: NA; Uniprot ID:C2CD3_HUMAN; ENSEMBL ID: ENSG00000168014; HGNC ID: 24564
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
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult45 / 193912123
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal63 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain13 / 110098911
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine14 / 23447259
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node4 / 9161043
mammary gland5 / 15327132
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P238215
  • 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
Amygdala4.04 ± 0.71
Basal Forebrain3.82 ± 0.32
Basal Part of Pons3.69 ± 0.6
Cerebellar Cortex4.27 ± 0.32
Cerebellar Nuclei3.89 ± 0.39
Claustrum3.77 ± 0.68
Epithalamus4.16 ± 0.41
Frontal Lobe3.83 ± 0.57
Globus Pallidus3.84 ± 0.55
Hypothalamus3.59 ± 0.82
Insula3.69 ± 0.44
Limbic Lobe3.93 ± 0.54
Mesencephalon3.89 ± 0.69
Myelencephalon3.91 ± 0.61
Occipital Lobe4.37 ± 0.51
Parietal Lobe3.86 ± 0.57
Pontine Tegmentum3.92 ± 0.6
Striatum3.67 ± 0.61
Subthalamus3.44 ± 0.58
Temporal Lobe3.83 ± 0.62
Thalamus3.79 ± 0.62
White Matter4.52 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AU020772CBCerebellum2.25
2.38
AU020772CTXCerebral cortex4.3
2.87
AU020772HIPHippocampal region2.4
2.1
AU020772HPFHippocampal formation2.46
2.02
AU020772HYHypothalamus0.96
0.79
AU020772LSXLateral septal complex0
0
AU020772MBMidbrain1.46
1.49
AU020772MYMedulla4.12
4.55
AU020772OLFOlfactory bulb4.44
3.21
AU020772PPons3.72
3.6
AU020772PALPallidum3.92
3.35
AU020772RHPRetrohippocampal region2.56
1.93
AU020772sAMYStriatum-like amygdalar nuclei3.04
2.71
AU020772STRStriatum1.86
1.33
AU020772STRdStriatum dorsal region1.49
1.08
AU020772STRvStriatum ventral region3.1
1.82
AU020772THThalamus3.16
2.25
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