AutismKB 2.0

Annotation Detail for CCDC94


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Basic Information Top
Gene Symbol:CCDC94 ( FLJ10374 )
Gene Full Name: coiled-coil domain containing 94
Band: 19p13.3
Quick LinksEntrez ID:55702; OMIM: NA; Uniprot ID:CCD94_HUMAN; ENSEMBL ID: ENSG00000105248; HGNC ID: 25518
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
blastocyst4 / 6231964
fetus14 / 56401224
neonate1 / 3109732
infant1 / 2362042
juvenile0 / 555560 
adult62 / 193912131
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) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor0 / 1142460 
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor6 / 26384522
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal96 / 336030728
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone4 / 7165555
bone marrow2 / 4880140
brain34 / 110098930
cervix2 / 4817141
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus2 / 2020998
eye11 / 21105452
heart3 / 8962633
intestine10 / 23447242
kidney9 / 21177742
larynx0 / 241450 
liver5 / 20774324
lung8 / 33697423
lymph1 / 4427022
lymph node2 / 9161021
mammary gland7 / 15327145
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary1 / 1020519
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate7 / 18934536
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach3 / 9661931
testis5 / 33044215
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204335_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.9
Adipocyte6.25
AdrenalCortex6.5
Adrenalgland5.6
Amygdala6.5
Appendix5.8
AtrioventricularNode4.75
BDCA4+_DentriticCells18.45
Bonemarrow6.5
BronchialEpithelialCells6.1
CD105+_Endothelial7.6
CD14+_Monocytes8.5
CD19+_BCells(neg._sel.)11.4
CD33+_Myeloid7.5
CD34+8.45
CD4+_Tcells8.25
CD56+_NKCells9.65
CD71+_EarlyErythroid16.2
CD8+_Tcells11.85
CardiacMyocytes8.1
Caudatenucleus5.55
Cerebellum5.15
CerebellumPeduncles10.65
CiliaryGanglion4.35
CingulateCortex6.55
Colorectaladenocarcinoma7.15
DorsalRootGanglion4.8
FetalThyroid6.05
Fetalbrain5.8
Fetalliver5.45
Fetallung5
GlobusPallidus5.2
Heart10.7
Hypothalamus6.8
Kidney5.15
Leukemia_chronicMyelogenousK-5627.5
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)5.25
Liver12.85
Lung19.1
Lymphnode5.4
Lymphoma_burkitts(Daudi)9.55
Lymphoma_burkitts(Raji)11.05
MedullaOblongata5.4
OccipitalLobe5.65
OlfactoryBulb5.55
Ovary4.1
Pancreas5
PancreaticIslet6.75
ParietalLobe6.65
Pituitary7.35
Placenta10.35
Pons5.95
PrefrontalCortex7.95
Prostate8.7
Salivarygland5.1
SkeletalMuscle7.15
Skin4.85
SmoothMuscle6.8
Spinalcord7.25
SubthalamicNucleus5.8
SuperiorCervicalGanglion6.15
TemporalLobe5.7
Testis6.7
TestisGermCell5.05
TestisIntersitial4.8
TestisLeydigCell6.1
TestisSeminiferousTubule5.4
Thalamus6.55
Thymus7.75
Thyroid16.4
Tongue6.45
Tonsil6.1
Trachea5.2
TrigeminalGanglion5.7
Uterus5.15
UterusCorpus5.1
WholeBlood6.95
Wholebrain8.2
colon9.65
pineal_day9.76
pineal_night7.6
retina11
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_195_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
Amygdala4.7 ± 0.53
Basal Forebrain4.18 ± 0.5
Basal Part of Pons4.6 ± 0.57
Cerebellar Cortex4.86 ± 0.44
Cerebellar Nuclei4.37 ± 0.48
Claustrum4.63 ± 0.65
Epithalamus4.35 ± 0.51
Frontal Lobe4.41 ± 0.52
Globus Pallidus4.71 ± 0.42
Hypothalamus4.24 ± 0.53
Insula4.25 ± 0.42
Limbic Lobe4.51 ± 0.61
Mesencephalon4.33 ± 0.58
Myelencephalon4.43 ± 0.58
Occipital Lobe4.62 ± 0.47
Parietal Lobe4.45 ± 0.6
Pontine Tegmentum4.5 ± 0.64
Striatum4.08 ± 0.69
Subthalamus3.96 ± 0.33
Temporal Lobe4.39 ± 0.57
Thalamus4.32 ± 0.56
White Matter4.83 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc94CBCerebellum19.53
26.89
Ccdc94CTXCerebral cortex75.71
63
Ccdc94HIPHippocampal region36.03
46.98
Ccdc94HPFHippocampal formation49.02
53.74
Ccdc94HYHypothalamus44.64
40.83
Ccdc94LSXLateral septal complex34.74
28.21
Ccdc94MBMidbrain29.79
29.3
Ccdc94MYMedulla17.83
24.24
Ccdc94OLFOlfactory bulb42.95
40.39
Ccdc94PPons28.97
35.99
Ccdc94PALPallidum31.16
30.26
Ccdc94RHPRetrohippocampal region75.79
67.49
Ccdc94sAMYStriatum-like amygdalar nuclei36.75
30.86
Ccdc94STRStriatum38.45
29.94
Ccdc94STRdStriatum dorsal region41.33
31.9
Ccdc94STRvStriatum ventral region36.28
27.81
Ccdc94THThalamus43.93
38.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00063076 22 271 292 ADPDCSNGQPQAAPTPGAPQNR 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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