AutismKB 2.0

Annotation Detail for C9orf116


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Basic Information Top
Gene Symbol:C9orf116 ( FLJ13945,MGC29761 )
Gene Full Name: chromosome 9 open reading frame 116
Band: 9q34.3
Quick LinksEntrez ID:138162; OMIM: NA; Uniprot ID:CI116_HUMAN; ENSEMBL ID: ENSG00000160345; HGNC ID: 28435
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 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal42 / 336030712
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
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 tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain8 / 11009897
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney11 / 21177751
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph1 / 4427022
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221946_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.15
Adipocyte5.7
AdrenalCortex8.2
Adrenalgland5
Amygdala5.8
Appendix6.25
AtrioventricularNode4.6
BDCA4+_DentriticCells6.5
Bonemarrow5.95
BronchialEpithelialCells5.4
CD105+_Endothelial5.8
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid7.45
CD34+7.2
CD4+_Tcells6.05
CD56+_NKCells6.85
CD71+_EarlyErythroid5.5
CD8+_Tcells5.15
CardiacMyocytes6.95
Caudatenucleus5.15
Cerebellum4.65
CerebellumPeduncles6.6
CiliaryGanglion4.15
CingulateCortex6.25
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.6
FetalThyroid5.6
Fetalbrain5.8
Fetalliver5.05
Fetallung4.9
GlobusPallidus4.2
Heart7.15
Hypothalamus6.45
Kidney4.85
Leukemia_chronicMyelogenousK-5625.15
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)4.5
Liver7.65
Lung7
Lymphnode4.95
Lymphoma_burkitts(Daudi)7.45
Lymphoma_burkitts(Raji)7.95
MedullaOblongata5.3
OccipitalLobe5.15
OlfactoryBulb4.5
Ovary3.75
Pancreas4.5
PancreaticIslet6.1
ParietalLobe6.1
Pituitary7.05
Placenta5.65
Pons8.05
PrefrontalCortex6.9
Prostate6.5
Salivarygland4.65
SkeletalMuscle6.6
Skin4.4
SmoothMuscle6.45
Spinalcord6.15
SubthalamicNucleus5.3
SuperiorCervicalGanglion6.75
TemporalLobe6
Testis37.2
TestisGermCell7.1
TestisIntersitial11.1
TestisLeydigCell10.25
TestisSeminiferousTubule10.8
Thalamus5.8
Thymus4.3
Thyroid6.9
Tongue5.55
Tonsil5.55
Trachea6.25
TrigeminalGanglion5.75
Uterus4.6
UterusCorpus5.25
WholeBlood6.15
Wholebrain4.8
colon5.75
pineal_day7.02
pineal_night6.86
retina6.975
small_intestine5.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P422115
  • 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
Amygdala6.71 ± 0.5
Basal Forebrain6.54 ± 0.41
Basal Part of Pons7.19 ± 0.36
Cerebellar Cortex6.19 ± 0.29
Cerebellar Nuclei6.7 ± 0.29
Claustrum6.24 ± 0.29
Epithalamus8.45 ± 1.16
Frontal Lobe7.09 ± 0.38
Globus Pallidus6.5 ± 0.68
Hypothalamus7.12 ± 0.42
Insula7.08 ± 0.24
Limbic Lobe7.01 ± 0.55
Mesencephalon6.74 ± 0.42
Myelencephalon6.78 ± 0.63
Occipital Lobe6.1 ± 0.58
Parietal Lobe6.71 ± 0.46
Pontine Tegmentum6.62 ± 0.53
Striatum7.34 ± 0.58
Subthalamus6.96 ± 0.13
Temporal Lobe6.82 ± 0.43
Thalamus6.47 ± 0.28
White Matter5.05 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1700007K13RikCBCerebellum1.05
2
1700007K13RikCTXCerebral cortex1.41
2.23
1700007K13RikHIPHippocampal region0.29
0.36
1700007K13RikHPFHippocampal formation0.25
0.29
1700007K13RikHYHypothalamus0.2
0.29
1700007K13RikLSXLateral septal complex0.08
0.1
1700007K13RikMBMidbrain0.35
0.5
1700007K13RikMYMedulla0.74
0.95
1700007K13RikOLFOlfactory bulb1.25
2.33
1700007K13RikPPons0.32
0.43
1700007K13RikPALPallidum0.34
0.43
1700007K13RikRHPRetrohippocampal region0.18
0.17
1700007K13RiksAMYStriatum-like amygdalar nuclei0.25
0.21
1700007K13RikSTRStriatum0.26
0.37
1700007K13RikSTRdStriatum dorsal region0.22
0.3
1700007K13RikSTRvStriatum ventral region0.51
0.75
1700007K13RikTHThalamus0.34
0.38
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