AutismKB 2.0

Annotation Detail for CCDC6


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Basic Information Top
Gene Symbol:CCDC6 ( D10S170,FLJ32286,H4,PTC,TPC,TST1 )
Gene Full Name: coiled-coil domain containing 6
Band: 10q21.2
Quick LinksEntrez ID:8030; OMIM: 601985; Uniprot ID:CCDC6_HUMAN; ENSEMBL ID: ENSG00000108091; HGNC ID: 18782
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 body8 / 70761113
blastocyst10 / 62319160
fetus29 / 56401251
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult114 / 193912158
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) tumor1 / 9417810
cervical tumor5 / 34366145
chondrosarcoma7 / 8282384
colorectal tumor15 / 114246131
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor13 / 26384549
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal185 / 336030755
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites5 / 40015124
bladder4 / 29757134
blood10 / 12347880
bone7 / 7165597
bone marrow0 / 488010 
brain41 / 110098937
cervix5 / 48171103
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye15 / 21105471
heart6 / 8962666
intestine21 / 23447289
kidney11 / 21177751
larynx1 / 2414541
liver7 / 20774333
lung12 / 33697435
lymph0 / 442700 
lymph node5 / 9161054
mammary gland5 / 15327132
mouth2 / 6705229
muscle6 / 10771555
nerve0 / 157680 
ovary4 / 10205139
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta11 / 28082539
prostate12 / 18934563
salivary gland1 / 2015549
skin10 / 21057447
spleen0 / 539520 
stomach10 / 96619103
testis11 / 33044233
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus27 / 232878115
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204716_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.25
Adipocyte6.5
AdrenalCortex6.15
Adrenalgland5.1
Amygdala10.4
Appendix6
AtrioventricularNode4.8
BDCA4+_DentriticCells8.5
Bonemarrow5.75
BronchialEpithelialCells5.8
CD105+_Endothelial5.8
CD14+_Monocytes6.25
CD19+_BCells(neg._sel.)6
CD33+_Myeloid7.3
CD34+6.8
CD4+_Tcells6.1
CD56+_NKCells6.8
CD71+_EarlyErythroid5.45
CD8+_Tcells5.25
CardiacMyocytes8.05
Caudatenucleus5.15
Cerebellum4.65
CerebellumPeduncles6.55
CiliaryGanglion4.15
CingulateCortex5.9
Colorectaladenocarcinoma5.75
DorsalRootGanglion4.5
FetalThyroid5.4
Fetalbrain5.6
Fetalliver5.05
Fetallung4.6
GlobusPallidus4.3
Heart7.6
Hypothalamus6.2
Kidney4.7
Leukemia_chronicMyelogenousK-5625.2
Leukemia_promyelocytic-HL-605.1
Leukemialymphoblastic(MOLT-4)4.45
Liver7.7
Lung6.25
Lymphnode4.6
Lymphoma_burkitts(Daudi)7.35
Lymphoma_burkitts(Raji)8.2
MedullaOblongata5.85
OccipitalLobe5.25
OlfactoryBulb4.45
Ovary3.8
Pancreas4.7
PancreaticIslet6.2
ParietalLobe6.1
Pituitary6.9
Placenta10.05
Pons5.45
PrefrontalCortex10.1
Prostate6.65
Salivarygland4.6
SkeletalMuscle7
Skin4.5
SmoothMuscle6.65
Spinalcord6
SubthalamicNucleus5.3
SuperiorCervicalGanglion7.6
TemporalLobe5.35
Testis5
TestisGermCell4.7
TestisIntersitial4.75
TestisLeydigCell5.75
TestisSeminiferousTubule5
Thalamus5.85
Thymus4.45
Thyroid7.3
Tongue6.15
Tonsil5.6
Trachea5.35
TrigeminalGanglion7.7
Uterus9.6
UterusCorpus5.95
WholeBlood6.25
Wholebrain6.75
colon14.8
pineal_day7.12
pineal_night6.78
retina6.95
small_intestine11.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P110917
  • 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
Amygdala3.86 ± 0.32
Basal Forebrain3.61 ± 0.42
Basal Part of Pons3.86 ± 0.38
Cerebellar Cortex3.37 ± 0.64
Cerebellar Nuclei3.39 ± 0.41
Claustrum3.44 ± 0.73
Epithalamus3.28 ± 0.67
Frontal Lobe3.65 ± 0.51
Globus Pallidus2.97 ± 0.61
Hypothalamus3.64 ± 0.43
Insula3.94 ± 0.73
Limbic Lobe3.65 ± 0.59
Mesencephalon3.64 ± 0.69
Myelencephalon3.49 ± 0.59
Occipital Lobe3.18 ± 0.54
Parietal Lobe3.62 ± 0.54
Pontine Tegmentum3.54 ± 0.57
Striatum3.46 ± 0.64
Subthalamus3.83 ± 0.65
Temporal Lobe3.67 ± 0.52
Thalamus3.23 ± 0.49
White Matter2.33 ± 0.45
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CCDC6_HUMAN_189 8 189 196 QLTLEQLR PRIDE
CCDC6_HUMAN_247 14 247 260 DISMEIDSPENMMR PRIDE
CCDC6_HUMAN_336 13 336 348 YFNEMSAQGLRPR PRIDE
PAp00076207 15 321 335 QLSESESSLEMDDER 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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