AutismKB 2.0

Annotation Detail for CCDC93


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Basic Information Top
Gene Symbol:CCDC93 ( FLJ10996,FLJ25197,MGC13033 )
Gene Full Name: coiled-coil domain containing 93
Band: 2q14.1
Quick LinksEntrez ID:54520; OMIM: NA; Uniprot ID:CCD93_HUMAN; ENSEMBL ID: ENSG00000125633; HGNC ID: 25611
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
fetus29 / 56401251
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult88 / 193912145
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 
chondrosarcoma13 / 82823156
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma5 / 10688346
head and neck tumor11 / 13630280
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal135 / 336030740
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
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 
blood4 / 12347832
bone7 / 7165597
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye15 / 21105471
heart2 / 8962622
intestine9 / 23447238
kidney12 / 21177756
larynx8 / 24145331
liver4 / 20774319
lung20 / 33697459
lymph1 / 4427022
lymph node12 / 91610130
mammary gland1 / 1532716
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary5 / 10205148
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta10 / 28082535
prostate6 / 18934531
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach3 / 9661931
testis12 / 33044236
thymus7 / 8113186
thyroid3 / 4747363
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209688_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts59.85
Adipocyte20.45
AdrenalCortex26.05
Adrenalgland13.35
Amygdala17
Appendix16.5
AtrioventricularNode21.35
BDCA4+_DentriticCells15.95
Bonemarrow13.4
BronchialEpithelialCells15.55
CD105+_Endothelial13.75
CD14+_Monocytes27.2
CD19+_BCells(neg._sel.)82.4
CD33+_Myeloid52.65
CD34+28.7
CD4+_Tcells67.6
CD56+_NKCells65.85
CD71+_EarlyErythroid11.4
CD8+_Tcells74.1
CardiacMyocytes19.35
Caudatenucleus16.6
Cerebellum11.25
CerebellumPeduncles15.85
CiliaryGanglion12.25
CingulateCortex23.05
Colorectaladenocarcinoma21.5
DorsalRootGanglion11.05
FetalThyroid48.85
Fetalbrain30.6
Fetalliver11.45
Fetallung11.6
GlobusPallidus9.2
Heart19.75
Hypothalamus45.8
Kidney12.75
Leukemia_chronicMyelogenousK-56212.9
Leukemia_promyelocytic-HL-6010.75
Leukemialymphoblastic(MOLT-4)20.6
Liver15.3
Lung14
Lymphnode22.65
Lymphoma_burkitts(Daudi)30.15
Lymphoma_burkitts(Raji)19.75
MedullaOblongata28.3
OccipitalLobe13.25
OlfactoryBulb16.65
Ovary10
Pancreas26.4
PancreaticIslet23.85
ParietalLobe14.45
Pituitary21.1
Placenta13.1
Pons14.9
PrefrontalCortex35.7
Prostate13.65
Salivarygland13.8
SkeletalMuscle18.05
Skin17.7
SmoothMuscle26.55
Spinalcord23
SubthalamicNucleus15.2
SuperiorCervicalGanglion21.1
TemporalLobe11.95
Testis12.6
TestisGermCell24.9
TestisIntersitial16.1
TestisLeydigCell23.6
TestisSeminiferousTubule30.1
Thalamus19
Thymus12.1
Thyroid30.8
Tongue14.05
Tonsil13.8
Trachea10.7
TrigeminalGanglion22.25
Uterus15.1
UterusCorpus12.7
WholeBlood19.7
Wholebrain11.75
colon13
pineal_day69.72
pineal_night73.32
retina21.925
small_intestine13.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P79661
  • 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
Amygdala5.92 ± 0.38
Basal Forebrain6.16 ± 0.16
Basal Part of Pons6.37 ± 0.29
Cerebellar Cortex6.35 ± 0.27
Cerebellar Nuclei6.18 ± 0.53
Claustrum5.51 ± 0.49
Epithalamus6.07 ± 0.42
Frontal Lobe6.1 ± 0.39
Globus Pallidus6.19 ± 0.19
Hypothalamus6.18 ± 0.37
Insula6.14 ± 0.24
Limbic Lobe6.01 ± 0.33
Mesencephalon6.13 ± 0.4
Myelencephalon6.1 ± 0.39
Occipital Lobe6.25 ± 0.3
Parietal Lobe6.11 ± 0.37
Pontine Tegmentum6 ± 0.3
Striatum6 ± 0.33
Subthalamus6.25 ± 0.23
Temporal Lobe6.12 ± 0.33
Thalamus6.24 ± 0.3
White Matter6.38 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc93PPons4.05
3.48
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00426040 13 185 197 HQGAEELLDEESR 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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