AutismKB 2.0

Annotation Detail for CCDC102A


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Basic Information Top
Gene Symbol:CCDC102A ( MGC10992,MGC13119 )
Gene Full Name: coiled-coil domain containing 102A
Band: 16q21
Quick LinksEntrez ID:92922; OMIM: NA; Uniprot ID:C102A_HUMAN; ENSEMBL ID: ENSG00000135736; HGNC ID: 28097
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 body4 / 7076156
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal19 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
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 
blood3 / 12347824
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine1 / 2344724
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1240_PI416573500
  • 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
Amygdala1.83 ± 1.08
Basal Forebrain1.46 ± 0.63
Basal Part of Pons1.22 ± 0.63
Cerebellar Cortex1.43 ± 0.69
Cerebellar Nuclei1.78 ± 0.9
Claustrum2.09 ± 0.74
Epithalamus2.28 ± 0.9
Frontal Lobe1.58 ± 0.72
Globus Pallidus2.37 ± 0.72
Hypothalamus1.7 ± 0.55
Insula1.46 ± 0.66
Limbic Lobe1.56 ± 0.77
Mesencephalon1.82 ± 0.78
Myelencephalon1.64 ± 0.7
Occipital Lobe1.61 ± 0.85
Parietal Lobe1.58 ± 0.8
Pontine Tegmentum1.81 ± 0.71
Striatum1.92 ± 0.82
Subthalamus1.41 ± 0.67
Temporal Lobe1.57 ± 0.78
Thalamus1.66 ± 0.66
White Matter1.87 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc102aCBCerebellum15.45
19.21
Ccdc102aCTXCerebral cortex24.7
18.08
Ccdc102aHIPHippocampal region11.27
11.46
Ccdc102aHPFHippocampal formation14.39
13.17
Ccdc102aHYHypothalamus7.21
6.2
Ccdc102aLSXLateral septal complex1.02
0.71
Ccdc102aMBMidbrain6.25
6.09
Ccdc102aMYMedulla23.86
27.74
Ccdc102aOLFOlfactory bulb22.16
16.71
Ccdc102aPPons13.9
14.99
Ccdc102aPALPallidum17.58
16.5
Ccdc102aRHPRetrohippocampal region21.52
17.02
Ccdc102asAMYStriatum-like amygdalar nuclei10.39
7.53
Ccdc102aSTRStriatum13.48
9.69
Ccdc102aSTRdStriatum dorsal region14.54
10.45
Ccdc102aSTRvStriatum ventral region17.15
11.95
Ccdc102aTHThalamus21.67
18.52
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