AutismKB 2.0

Annotation Detail for CCDC18


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Basic Information Top
Gene Symbol:CCDC18 ( NY-SAR-41,dJ717I23.1 )
Gene Full Name: coiled-coil domain containing 18
Band: 1p22.1
Quick LinksEntrez ID:343099; OMIM: NA; Uniprot ID:CCD18_HUMAN; ENSEMBL ID: ENSG00000122483; HGNC ID: 30370
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 body1 / 7076114
blastocyst1 / 6231916
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult11 / 19391215
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal36 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow2 / 4880140
brain9 / 11009898
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney4 / 21177718
larynx1 / 2414541
liver3 / 20774314
lung1 / 3369742
lymph0 / 442700 
lymph node7 / 9161076
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland1 / 2015549
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis15 / 33044245
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_556_PI416573500
  • 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
Amygdala3.51 ± 0.68
Basal Forebrain2.85 ± 0.79
Basal Part of Pons3.31 ± 0.51
Cerebellar Cortex3.46 ± 0.34
Cerebellar Nuclei3.11 ± 0.64
Claustrum3.24 ± 0.55
Epithalamus3.02 ± 0.46
Frontal Lobe3.01 ± 0.59
Globus Pallidus3.72 ± 0.6
Hypothalamus2.97 ± 0.43
Insula3.2 ± 0.58
Limbic Lobe3.26 ± 0.52
Mesencephalon3.19 ± 0.72
Myelencephalon3.12 ± 0.52
Occipital Lobe3.07 ± 0.63
Parietal Lobe3.08 ± 0.59
Pontine Tegmentum3.11 ± 0.62
Striatum3.54 ± 0.67
Subthalamus3.22 ± 0.46
Temporal Lobe3.11 ± 0.63
Thalamus3.11 ± 0.61
White Matter2.93 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc18CBCerebellum1.96
2.19
Ccdc18CTXCerebral cortex3.25
2.6
Ccdc18HIPHippocampal region2.64
2.3
Ccdc18HPFHippocampal formation1.96
1.61
Ccdc18HYHypothalamus0.5
0.38
Ccdc18LSXLateral septal complex1.53
1.02
Ccdc18MBMidbrain1.09
1.22
Ccdc18MYMedulla1.19
1.25
Ccdc18OLFOlfactory bulb0.87
0.59
Ccdc18PPons1.67
1.8
Ccdc18PALPallidum0.5
0.39
Ccdc18RHPRetrohippocampal region0.79
0.61
Ccdc18sAMYStriatum-like amygdalar nuclei0
0
Ccdc18STRStriatum0.38
0.34
Ccdc18STRdStriatum dorsal region0.31
0.36
Ccdc18STRvStriatum ventral region0.29
0.19
Ccdc18THThalamus1.47
1.1
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