AutismKB 2.0

Annotation Detail for C9orf3


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Basic Information Top
Gene Symbol:C9orf3 ( AOPEP,AP-O,APO,C90RF3,FLJ14675,FLJ40923,FLJ55832,ONPEP )
Gene Full Name: chromosome 9 open reading frame 3
Band: 9q22.32
Quick LinksEntrez ID:84909; OMIM: NA; Uniprot ID:AMPO_HUMAN; ENSEMBL ID: ENSG00000148120; HGNC ID: 1361
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 body3 / 7076142
blastocyst0 / 623190 
fetus33 / 56401258
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult158 / 193912181
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor19 / 136302139
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal183 / 336030754
ovarian tumor8 / 76682104
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone9 / 71655125
bone marrow0 / 488010 
brain23 / 110098920
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye10 / 21105447
heart4 / 8962644
intestine19 / 23447281
kidney18 / 21177784
larynx1 / 2414541
liver7 / 20774333
lung16 / 33697447
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth8 / 67052119
muscle14 / 107715129
nerve0 / 157680 
ovary10 / 10205197
pancreas20 / 21481293
parathyroid2 / 2053997
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta19 / 28082567
prostate10 / 18934552
salivary gland5 / 20155248
skin7 / 21057433
spleen2 / 5395237
stomach5 / 9661951
testis11 / 33044233
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus26 / 232878111
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212848_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.9
Adipocyte11.95
AdrenalCortex13.85
Adrenalgland11.3
Amygdala17.4
Appendix12.75
AtrioventricularNode9.45
BDCA4+_DentriticCells5.7
Bonemarrow5.85
BronchialEpithelialCells19.05
CD105+_Endothelial11.2
CD14+_Monocytes11.3
CD19+_BCells(neg._sel.)9.8
CD33+_Myeloid12.4
CD34+13.05
CD4+_Tcells12.3
CD56+_NKCells11
CD71+_EarlyErythroid10.85
CD8+_Tcells9.7
CardiacMyocytes15.85
Caudatenucleus9.95
Cerebellum10.15
CerebellumPeduncles17.9
CiliaryGanglion8.65
CingulateCortex12.85
Colorectaladenocarcinoma122.55
DorsalRootGanglion11.15
FetalThyroid15.6
Fetalbrain8.4
Fetalliver10.7
Fetallung12.8
GlobusPallidus7.75
Heart82.85
Hypothalamus15.75
Kidney11.95
Leukemia_chronicMyelogenousK-5629.65
Leukemia_promyelocytic-HL-606.9
Leukemialymphoblastic(MOLT-4)4.85
Liver41.15
Lung73.65
Lymphnode10.5
Lymphoma_burkitts(Daudi)6.6
Lymphoma_burkitts(Raji)11.55
MedullaOblongata11.35
OccipitalLobe9.6
OlfactoryBulb26
Ovary8.25
Pancreas10.15
PancreaticIslet58.95
ParietalLobe11.7
Pituitary13.1
Placenta22.6
Pons11.8
PrefrontalCortex15.5
Prostate113.55
Salivarygland11.6
SkeletalMuscle15.75
Skin9.4
SmoothMuscle16.3
Spinalcord13.9
SubthalamicNucleus10.05
SuperiorCervicalGanglion13.5
TemporalLobe10.1
Testis10.8
TestisGermCell9.1
TestisIntersitial12.65
TestisLeydigCell12.25
TestisSeminiferousTubule9.55
Thalamus11
Thymus9.3
Thyroid50.05
Tongue51.8
Tonsil12.2
Trachea12.65
TrigeminalGanglion12.05
Uterus256.5
UterusCorpus15.8
WholeBlood10.2
Wholebrain12.1
colon20.2
pineal_day19.5
pineal_night15.4
retina34.475
small_intestine29.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P89887
  • 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
Amygdala6.76 ± 0.49
Basal Forebrain6.76 ± 0.2
Basal Part of Pons6.72 ± 0.35
Cerebellar Cortex7.05 ± 0.21
Cerebellar Nuclei6.93 ± 0.33
Claustrum6.39 ± 0.51
Epithalamus6.4 ± 0.34
Frontal Lobe6.81 ± 0.37
Globus Pallidus6.43 ± 0.36
Hypothalamus6.24 ± 0.4
Insula6.69 ± 0.42
Limbic Lobe7.02 ± 0.49
Mesencephalon6.67 ± 0.52
Myelencephalon6.79 ± 0.43
Occipital Lobe6.99 ± 0.48
Parietal Lobe6.84 ± 0.35
Pontine Tegmentum6.86 ± 0.42
Striatum6.25 ± 0.37
Subthalamus6.49 ± 0.44
Temporal Lobe6.99 ± 0.36
Thalamus6.72 ± 0.42
White Matter8.03 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2010111I01RikCBCerebellum3.93
6.82
2010111I01RikCTXCerebral cortex11.76
7.5
2010111I01RikHIPHippocampal region9
8.52
2010111I01RikHPFHippocampal formation6.53
5.75
2010111I01RikHYHypothalamus1.18
1.05
2010111I01RikLSXLateral septal complex1.37
1.1
2010111I01RikMBMidbrain3.87
3.85
2010111I01RikMYMedulla8.24
7.42
2010111I01RikOLFOlfactory bulb5.69
3.66
2010111I01RikPPons3.97
3.38
2010111I01RikPALPallidum2.11
1.96
2010111I01RikRHPRetrohippocampal region2.84
2.17
2010111I01RiksAMYStriatum-like amygdalar nuclei0.6
0.65
2010111I01RikSTRStriatum2.14
2.03
2010111I01RikSTRdStriatum dorsal region2.29
2.33
2010111I01RikSTRvStriatum ventral region2.28
1.65
2010111I01RikTHThalamus7.8
6.52
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


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