AutismKB 2.0

Annotation Detail for CCDC40


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Basic Information Top
Gene Symbol:CCDC40 ( FLJ20753,FLJ32021,KIAA1640 )
Gene Full Name: coiled-coil domain containing 40
Band: 17q25.3
Quick LinksEntrez ID:55036; OMIM: NA; Uniprot ID:CCD40_HUMAN; ENSEMBL ID: ENSG00000141519; HGNC ID: 26090
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
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult21 / 193912110
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal43 / 336030712
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine3 / 23447212
kidney2 / 2117779
larynx1 / 2414541
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach0 / 966190 
testis25 / 33044275
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220593_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.95
Adipocyte4.95
AdrenalCortex6.55
Adrenalgland4.3
Amygdala5.2
Appendix5.45
AtrioventricularNode4.2
BDCA4+_DentriticCells5.25
Bonemarrow5.2
BronchialEpithelialCells4.9
CD105+_Endothelial5.05
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.25
CD34+6.3
CD4+_Tcells5.45
CD56+_NKCells5.7
CD71+_EarlyErythroid4.75
CD8+_Tcells5.6
CardiacMyocytes6.75
Caudatenucleus4.6
Cerebellum4.1
CerebellumPeduncles6.25
CiliaryGanglion3.7
CingulateCortex5.55
Colorectaladenocarcinoma5.1
DorsalRootGanglion4
FetalThyroid4.95
Fetalbrain5.05
Fetalliver4.45
Fetallung4
GlobusPallidus3.75
Heart7.1
Hypothalamus5.4
Kidney4.25
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.5
Leukemialymphoblastic(MOLT-4)4
Liver7
Lung5.65
Lymphnode4.35
Lymphoma_burkitts(Daudi)7.55
Lymphoma_burkitts(Raji)7.5
MedullaOblongata4.6
OccipitalLobe4.55
OlfactoryBulb4
Ovary3.5
Pancreas4.55
PancreaticIslet5.7
ParietalLobe5.45
Pituitary5.9
Placenta5.1
Pons5.15
PrefrontalCortex6.15
Prostate7.1
Salivarygland4.15
SkeletalMuscle6.35
Skin4.15
SmoothMuscle5.7
Spinalcord5.45
SubthalamicNucleus4.8
SuperiorCervicalGanglion6.25
TemporalLobe4.9
Testis4.35
TestisGermCell4.2
TestisIntersitial5.4
TestisLeydigCell5.15
TestisSeminiferousTubule4.35
Thalamus5.2
Thymus3.95
Thyroid6.3
Tongue5.65
Tonsil5.7
Trachea4.25
TrigeminalGanglion5.45
Uterus4.55
UterusCorpus5.8
WholeBlood5.35
Wholebrain4.2
colon5.15
pineal_day6.28
pineal_night6.2
retina6.275
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P160680
  • 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
Amygdala2.49 ± 1.14
Basal Forebrain2.03 ± 0.26
Basal Part of Pons2.19 ± 0.77
Cerebellar Cortex1.88 ± 0.69
Cerebellar Nuclei2.37 ± 0.69
Claustrum2.98 ± 0.91
Epithalamus3.89 ± 1.03
Frontal Lobe1.91 ± 0.79
Globus Pallidus2.41 ± 0.36
Hypothalamus2.19 ± 0.66
Insula2.03 ± 0.68
Limbic Lobe2.06 ± 0.77
Mesencephalon2.28 ± 0.63
Myelencephalon2.11 ± 0.84
Occipital Lobe2.79 ± 1.04
Parietal Lobe2.24 ± 0.81
Pontine Tegmentum2.11 ± 0.81
Striatum2.57 ± 0.85
Subthalamus2.19 ± 0.68
Temporal Lobe1.85 ± 0.66
Thalamus1.97 ± 0.62
White Matter2.31 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc40CBCerebellum1.93
2.76
Ccdc40CTXCerebral cortex1.81
1.46
Ccdc40HIPHippocampal region2.92
4.29
Ccdc40HPFHippocampal formation2.3
2.86
Ccdc40HYHypothalamus1.15
0.89
Ccdc40LSXLateral septal complex2.87
2.9
Ccdc40MBMidbrain2.04
2.86
Ccdc40MYMedulla1.82
2.3
Ccdc40OLFOlfactory bulb16.81
14.91
Ccdc40PPons4.23
6.34
Ccdc40PALPallidum1.47
1.27
Ccdc40RHPRetrohippocampal region1.35
1.06
Ccdc40sAMYStriatum-like amygdalar nuclei1.29
0.78
Ccdc40STRStriatum4.69
3.23
Ccdc40STRdStriatum dorsal region2.99
1.99
Ccdc40STRvStriatum ventral region14.67
9.44
Ccdc40THThalamus2.02
2.36
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


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