AutismKB 2.0

Annotation Detail for CCDC88C


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Basic Information Top
Gene Symbol:CCDC88C ( DAPLE,FLJ00354,HkRP2,KIAA1509 )
Gene Full Name: coiled-coil domain containing 88C
Band: 14q32.11-q32.12
Quick LinksEntrez ID:440193; OMIM: 611204; Uniprot ID:DAPLE_HUMAN; ENSEMBL ID: ENSG00000015133; HGNC ID: 19967
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 
blastocyst1 / 6231916
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult93 / 193912147
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor14 / 26384553
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor8 / 10312777
lymphoma22 / 71755306
non-neoplasia1 / 9725010
normal63 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder0 / 297570 
blood10 / 12347880
bone2 / 7165527
bone marrow0 / 488010 
brain4 / 11009893
cervix8 / 48171166
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine3 / 23447212
kidney2 / 2117779
larynx3 / 24145124
liver0 / 2077430 
lung12 / 33697435
lymph15 / 44270338
lymph node4 / 9161043
mammary gland9 / 15327158
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate10 / 18934552
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach4 / 9661941
testis7 / 33044221
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P379945
  • 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
Amygdala5.08 ± 0.56
Basal Forebrain5.99 ± 0.55
Basal Part of Pons4.04 ± 0.49
Cerebellar Cortex3.93 ± 0.29
Cerebellar Nuclei4.91 ± 0.54
Claustrum3.82 ± 0.66
Epithalamus6.95 ± 1.15
Frontal Lobe4.52 ± 0.7
Globus Pallidus5.42 ± 0.53
Hypothalamus5.27 ± 0.65
Insula4.72 ± 0.52
Limbic Lobe4.32 ± 0.79
Mesencephalon4.79 ± 0.88
Myelencephalon4.91 ± 0.96
Occipital Lobe4.95 ± 1.04
Parietal Lobe4.67 ± 0.69
Pontine Tegmentum5.04 ± 0.55
Striatum7.76 ± 1.05
Subthalamus4.84 ± 0.37
Temporal Lobe4.45 ± 0.65
Thalamus4.74 ± 0.62
White Matter5.07 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
0610010D24RikCBCerebellum10.08
12.23
0610010D24RikCTXCerebral cortex19.22
15.89
0610010D24RikHIPHippocampal region23.03
35.96
0610010D24RikHPFHippocampal formation22.34
28.36
0610010D24RikHYHypothalamus1.95
1.97
0610010D24RikLSXLateral septal complex6.08
5.01
0610010D24RikMBMidbrain4.13
4.77
0610010D24RikMYMedulla6.35
9.26
0610010D24RikOLFOlfactory bulb21.87
18.2
0610010D24RikPPons3.32
4.51
0610010D24RikPALPallidum7.28
6.41
0610010D24RikRHPRetrohippocampal region21.95
19.84
0610010D24RiksAMYStriatum-like amygdalar nuclei11.48
9.1
0610010D24RikSTRStriatum52.39
38
0610010D24RikSTRdStriatum dorsal region71.33
52.66
0610010D24RikSTRvStriatum ventral region30.18
19.97
0610010D24RikTHThalamus3.31
3.36
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