AutismKB 2.0

Annotation Detail for CCDC102B


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Basic Information Top
Gene Symbol:CCDC102B ( ACY1L,AN,C18orf14,DKFZp434K1426,DKFZp686I08254,FLJ23594,HsT1731,MGC161726,MGC161728 )
Gene Full Name: coiled-coil domain containing 102B
Band: 18q22.1
Quick LinksEntrez ID:79839; OMIM: NA; Uniprot ID:C102B_HUMAN; ENSEMBL ID: ENSG00000150636; HGNC ID: 26295
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 body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis10 / 33044230
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220301_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.85
Adipocyte9.65
AdrenalCortex17.05
Adrenalgland9.2
Amygdala9.9
Appendix14.2
AtrioventricularNode16.75
BDCA4+_DentriticCells9.05
Bonemarrow11.7
BronchialEpithelialCells9.35
CD105+_Endothelial9.65
CD14+_Monocytes11.2
CD19+_BCells(neg._sel.)10.3
CD33+_Myeloid12.55
CD34+11.8
CD4+_Tcells10
CD56+_NKCells10.6
CD71+_EarlyErythroid9.8
CD8+_Tcells9.1
CardiacMyocytes20.05
Caudatenucleus8.9
Cerebellum8.25
CerebellumPeduncles13.2
CiliaryGanglion11.85
CingulateCortex11.7
Colorectaladenocarcinoma9.55
DorsalRootGanglion10.95
FetalThyroid10.4
Fetalbrain9.2
Fetalliver8.8
Fetallung7.5
GlobusPallidus9
Heart18.5
Hypothalamus9.6
Kidney10
Leukemia_chronicMyelogenousK-5628.7
Leukemia_promyelocytic-HL-608.6
Leukemialymphoblastic(MOLT-4)7.1
Liver18.85
Lung10.7
Lymphnode8.3
Lymphoma_burkitts(Daudi)13.75
Lymphoma_burkitts(Raji)16.8
MedullaOblongata8.45
OccipitalLobe8.8
OlfactoryBulb7.5
Ovary8.65
Pancreas9
PancreaticIslet11.05
ParietalLobe12.05
Pituitary11.7
Placenta9.6
Pons10.25
PrefrontalCortex11.5
Prostate11.05
Salivarygland8.75
SkeletalMuscle19.55
Skin14.5
SmoothMuscle11.35
Spinalcord10.45
SubthalamicNucleus11.45
SuperiorCervicalGanglion26.15
TemporalLobe10.05
Testis8.55
TestisGermCell7.3
TestisIntersitial8.75
TestisLeydigCell11
TestisSeminiferousTubule8.45
Thalamus10.55
Thymus7.35
Thyroid12
Tongue12.75
Tonsil10.1
Trachea8.15
TrigeminalGanglion17.4
Uterus7.65
UterusCorpus14.2
WholeBlood10.25
Wholebrain7.45
colon9.75
pineal_day11.68
pineal_night11.72
retina11.775
small_intestine9.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P44466
  • 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
Amygdala4.87 ± 0.49
Basal Forebrain5.24 ± 0.3
Basal Part of Pons4.68 ± 0.36
Cerebellar Cortex4.46 ± 0.37
Cerebellar Nuclei4.92 ± 0.36
Claustrum5.41 ± 0.46
Epithalamus5.67 ± 0.62
Frontal Lobe4.8 ± 0.47
Globus Pallidus5.76 ± 0.3
Hypothalamus4.8 ± 0.31
Insula4.77 ± 0.34
Limbic Lobe4.67 ± 0.51
Mesencephalon4.97 ± 0.45
Myelencephalon4.9 ± 0.56
Occipital Lobe4.85 ± 0.47
Parietal Lobe4.86 ± 0.46
Pontine Tegmentum4.86 ± 0.38
Striatum5.4 ± 0.3
Subthalamus4.59 ± 0.35
Temporal Lobe4.72 ± 0.45
Thalamus4.98 ± 0.41
White Matter6.34 ± 0.19
Mouse Brain ISH
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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