AutismKB 2.0

Annotation Detail for CEP78


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Basic Information Top
Gene Symbol:CEP78 ( C9orf81,FLJ12643,FLJ52093,IP63,MGC135040 )
Gene Full Name: centrosomal protein 78kDa
Band: 9q21.2
Quick LinksEntrez ID:84131; OMIM: NA; Uniprot ID:CEP78_HUMAN; ENSEMBL ID: ENSG00000148019; HGNC ID: 25740
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 body1 / 7076114
blastocyst7 / 62319112
fetus18 / 56401231
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult27 / 193912113
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma6 / 7175583
non-neoplasia0 / 972500 
normal63 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder2 / 2975767
blood2 / 12347816
bone5 / 7165569
bone marrow0 / 488010 
brain10 / 11009899
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye5 / 21105423
heart6 / 8962666
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph6 / 44270135
lymph node1 / 9161010
mammary gland3 / 15327119
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland1 / 2015549
skin0 / 2105740 
spleen2 / 5395237
stomach7 / 9661972
testis5 / 33044215
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
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_1019_PI416379584
  • 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
Amygdala3.97 ± 0.66
Basal Forebrain3.55 ± 0.57
Basal Part of Pons3.9 ± 0.4
Cerebellar Cortex4.35 ± 0.3
Cerebellar Nuclei3.88 ± 0.68
Claustrum3.54 ± 0.87
Epithalamus3.94 ± 0.4
Frontal Lobe3.93 ± 0.48
Globus Pallidus3.66 ± 0.53
Hypothalamus3.93 ± 0.34
Insula4.19 ± 0.27
Limbic Lobe3.8 ± 0.5
Mesencephalon3.98 ± 0.58
Myelencephalon3.83 ± 0.53
Occipital Lobe3.62 ± 0.55
Parietal Lobe3.95 ± 0.5
Pontine Tegmentum3.92 ± 0.54
Striatum3.59 ± 0.61
Subthalamus3.99 ± 0.29
Temporal Lobe3.95 ± 0.47
Thalamus3.73 ± 0.56
White Matter4.85 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cep78CBCerebellum6.83
8.87
Cep78CTXCerebral cortex5.78
4.2
Cep78HIPHippocampal region7.9
6.88
Cep78HPFHippocampal formation10.71
9.07
Cep78HYHypothalamus1.7
1.27
Cep78LSXLateral septal complex3.01
2.27
Cep78MBMidbrain7.45
6.57
Cep78MYMedulla21.96
24.51
Cep78OLFOlfactory bulb5.38
3.58
Cep78PPons17.71
18.16
Cep78PALPallidum3.66
2.78
Cep78RHPRetrohippocampal region14.16
10.83
Cep78sAMYStriatum-like amygdalar nuclei2.31
1.76
Cep78STRStriatum2.08
1.44
Cep78STRdStriatum dorsal region1.55
1.04
Cep78STRvStriatum ventral region3.21
2.1
Cep78THThalamus2.38
1.73
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