AutismKB 2.0

Annotation Detail for CCDC53


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Basic Information Top
Gene Symbol:CCDC53 ( CGI-116 )
Gene Full Name: coiled-coil domain containing 53
Band: 12q23.2
Quick LinksEntrez ID:51019; OMIM: NA; Uniprot ID:CCD53_HUMAN; ENSEMBL ID: ENSG00000120860; 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 body1 / 7076114
blastocyst0 / 623190 
fetus37 / 56401265
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult68 / 193912135
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma7 / 10688365
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal116 / 336030734
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone3 / 7165541
bone marrow3 / 4880161
brain28 / 110098925
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart8 / 8962689
intestine3 / 23447212
kidney7 / 21177733
larynx0 / 241450 
liver1 / 2077434
lung18 / 33697453
lymph0 / 442700 
lymph node8 / 9161087
mammary gland8 / 15327152
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta4 / 28082514
prostate5 / 18934526
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis14 / 33044242
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218628_at
Cell line Expression level Expression bar
721_B_lymphoblasts141.8
Adipocyte128.1
AdrenalCortex14.25
Adrenalgland19.5
Amygdala35.1
Appendix6.2
AtrioventricularNode8.75
BDCA4+_DentriticCells159.9
Bonemarrow11.1
BronchialEpithelialCells112.85
CD105+_Endothelial28.15
CD14+_Monocytes101.1
CD19+_BCells(neg._sel.)224.35
CD33+_Myeloid127.4
CD34+167.8
CD4+_Tcells104.85
CD56+_NKCells177.85
CD71+_EarlyErythroid14.4
CD8+_Tcells104.05
CardiacMyocytes38.3
Caudatenucleus37.45
Cerebellum9.15
CerebellumPeduncles15.1
CiliaryGanglion9.5
CingulateCortex31.7
Colorectaladenocarcinoma9.8
DorsalRootGanglion10.3
FetalThyroid26.6
Fetalbrain14
Fetalliver8.6
Fetallung12.4
GlobusPallidus12.25
Heart10.25
Hypothalamus80.9
Kidney19.95
Leukemia_chronicMyelogenousK-56220.9
Leukemia_promyelocytic-HL-6016.95
Leukemialymphoblastic(MOLT-4)14.65
Liver9.9
Lung13.15
Lymphnode13.75
Lymphoma_burkitts(Daudi)52.45
Lymphoma_burkitts(Raji)19.2
MedullaOblongata25
OccipitalLobe40.95
OlfactoryBulb52.55
Ovary6.35
Pancreas23.8
PancreaticIslet28.95
ParietalLobe17.9
Pituitary131.7
Placenta9.85
Pons9.8
PrefrontalCortex37.95
Prostate14.6
Salivarygland11.3
SkeletalMuscle12.2
Skin10.55
SmoothMuscle142.05
Spinalcord119.2
SubthalamicNucleus11.6
SuperiorCervicalGanglion10.45
TemporalLobe12.05
Testis345.55
TestisGermCell427.15
TestisIntersitial629.5
TestisLeydigCell314.5
TestisSeminiferousTubule293.5
Thalamus37.3
Thymus32.45
Thyroid24.25
Tongue13.2
Tonsil30.55
Trachea11.95
TrigeminalGanglion6.95
Uterus24.95
UterusCorpus18.7
WholeBlood48.85
Wholebrain30
colon14.45
pineal_day159.26
pineal_night130.14
retina60.2
small_intestine13.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1114_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
Amygdala7.91 ± 0.24
Basal Forebrain7.75 ± 0.11
Basal Part of Pons7.65 ± 0.17
Cerebellar Cortex7.54 ± 0.15
Cerebellar Nuclei7.85 ± 0.39
Claustrum7.73 ± 0.29
Epithalamus8.05 ± 0.2
Frontal Lobe7.86 ± 0.24
Globus Pallidus8.37 ± 0.14
Hypothalamus8.11 ± 0.23
Insula7.86 ± 0.26
Limbic Lobe7.78 ± 0.29
Mesencephalon7.86 ± 0.29
Myelencephalon7.79 ± 0.29
Occipital Lobe7.5 ± 0.28
Parietal Lobe7.72 ± 0.24
Pontine Tegmentum7.89 ± 0.31
Striatum7.97 ± 0.22
Subthalamus7.77 ± 0.19
Temporal Lobe7.83 ± 0.28
Thalamus7.68 ± 0.25
White Matter8.73 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc53CBCerebellum7.15
7.97
Ccdc53CTXCerebral cortex17.21
12.11
Ccdc53HIPHippocampal region20.59
20.66
Ccdc53HPFHippocampal formation22.93
21.69
Ccdc53HYHypothalamus9.05
6.65
Ccdc53LSXLateral septal complex1.43
0.87
Ccdc53MBMidbrain5.66
5.67
Ccdc53MYMedulla7.54
8.89
Ccdc53OLFOlfactory bulb7.4
5.25
Ccdc53PPons8.85
10.73
Ccdc53PALPallidum4.22
3.29
Ccdc53RHPRetrohippocampal region26.8
23.06
Ccdc53sAMYStriatum-like amygdalar nuclei4.45
3.21
Ccdc53STRStriatum4.73
3.25
Ccdc53STRdStriatum dorsal region4.73
3.32
Ccdc53STRvStriatum ventral region6.41
4.07
Ccdc53THThalamus10.1
8.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CCD53_HUMAN_1 25 1 25 MDEDGLPLMGSGIDLTKVPAIQQKR PRIDE
CCD53_HUMAN_142 12 142 153 MVQVGVPVMAIR PRIDE
CCD53_HUMAN_25 18 25 42 TVAFLNQFVVHTVQFLNR PRIDE
PAp00074747 25 156 180 MISEGLDPDLLERPDAPVPDGESEK 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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