AutismKB 2.0

Annotation Detail for C9orf93


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Basic Information Top
Gene Symbol:C9orf93 ( DKFZp686P12113,FLJ39267,FLJ46740,MGC50805,bA536D16.1,bA778P13.1 )
Gene Full Name: chromosome 9 open reading frame 93
Band: 9p22.3
Quick LinksEntrez ID:203238; OMIM: NA; Uniprot ID:CI093_HUMAN; ENSEMBL ID: ENSG00000164989; HGNC ID:
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 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult52 / 193912126
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal45 / 336030713
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor28 / 125191223
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 
bone5 / 7165569
bone marrow0 / 488010 
brain20 / 110098918
cervix1 / 4817120
connective tissue28 / 149255187
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart3 / 8962633
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis20 / 33044260
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P166480
  • 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
Amygdala9.08 ± 0.31
Basal Forebrain8.74 ± 0.22
Basal Part of Pons8.43 ± 0.3
Cerebellar Cortex8.83 ± 0.19
Cerebellar Nuclei8.31 ± 0.3
Claustrum9.26 ± 0.41
Epithalamus8.93 ± 0.35
Frontal Lobe8.45 ± 0.37
Globus Pallidus8.59 ± 0.18
Hypothalamus8.31 ± 0.27
Insula8.64 ± 0.32
Limbic Lobe8.91 ± 0.36
Mesencephalon8.54 ± 0.26
Myelencephalon8.62 ± 0.38
Occipital Lobe8.63 ± 0.31
Parietal Lobe8.58 ± 0.43
Pontine Tegmentum8.58 ± 0.31
Striatum8.76 ± 0.32
Subthalamus8.56 ± 0.18
Temporal Lobe8.71 ± 0.33
Thalamus8.36 ± 0.24
White Matter9.18 ± 0.3
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