AutismKB 2.0

Annotation Detail for C9orf82


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Basic Information Top
Gene Symbol:C9orf82 ( FLJ13657,RP11-337A23.1 )
Gene Full Name: chromosome 9 open reading frame 82
Band: 9p21.2
Quick LinksEntrez ID:79886; OMIM: NA; Uniprot ID:CI082_HUMAN; ENSEMBL ID: ENSG00000120159; 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 body3 / 7076142
blastocyst2 / 6231932
fetus20 / 56401235
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult36 / 193912118
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal81 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
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 
blood2 / 12347816
bone1 / 7165513
bone marrow1 / 4880120
brain18 / 110098916
cervix4 / 4817183
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye3 / 21105414
heart0 / 896260 
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung11 / 33697432
lymph0 / 442700 
lymph node4 / 9161043
mammary gland2 / 15327113
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate9 / 18934547
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis9 / 33044227
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219276_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts63.1
Adipocyte14.5
AdrenalCortex19.05
Adrenalgland20.6
Amygdala16.75
Appendix18.75
AtrioventricularNode14.5
BDCA4+_DentriticCells38.8
Bonemarrow14.6
BronchialEpithelialCells15.25
CD105+_Endothelial23.95
CD14+_Monocytes18.2
CD19+_BCells(neg._sel.)29.25
CD33+_Myeloid19.4
CD34+36.45
CD4+_Tcells19.6
CD56+_NKCells44.65
CD71+_EarlyErythroid17.4
CD8+_Tcells23.5
CardiacMyocytes19.4
Caudatenucleus13.8
Cerebellum12.8
CerebellumPeduncles18.85
CiliaryGanglion18.65
CingulateCortex16.5
Colorectaladenocarcinoma29.95
DorsalRootGanglion12.65
FetalThyroid15.65
Fetalbrain13.3
Fetalliver23.15
Fetallung10.9
GlobusPallidus11.8
Heart23.35
Hypothalamus16.05
Kidney15.9
Leukemia_chronicMyelogenousK-56229.2
Leukemia_promyelocytic-HL-6043.7
Leukemialymphoblastic(MOLT-4)15.45
Liver17.2
Lung13.7
Lymphnode14.15
Lymphoma_burkitts(Daudi)36.4
Lymphoma_burkitts(Raji)25.5
MedullaOblongata12.85
OccipitalLobe12.75
OlfactoryBulb11.7
Ovary11.45
Pancreas12.45
PancreaticIslet31.55
ParietalLobe17.6
Pituitary26.1
Placenta13.1
Pons19.25
PrefrontalCortex17.85
Prostate26.15
Salivarygland22.85
SkeletalMuscle23.8
Skin14.2
SmoothMuscle16.7
Spinalcord15.75
SubthalamicNucleus15.05
SuperiorCervicalGanglion22.95
TemporalLobe14.1
Testis15.1
TestisGermCell15.1
TestisIntersitial13.05
TestisLeydigCell14.6
TestisSeminiferousTubule14.75
Thalamus15.05
Thymus14.9
Thyroid168.65
Tongue15.25
Tonsil18.85
Trachea24.5
TrigeminalGanglion19.05
Uterus12.55
UterusCorpus17.5
WholeBlood18.1
Wholebrain13.9
colon118.15
pineal_day34.74
pineal_night51.88
retina25.325
small_intestine81.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13990_PI416261804
  • 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
Amygdala7.72 ± 0.32
Basal Forebrain7.58 ± 0.23
Basal Part of Pons7.31 ± 0.29
Cerebellar Cortex7.63 ± 0.28
Cerebellar Nuclei7.34 ± 0.33
Claustrum7.64 ± 0.42
Epithalamus7.55 ± 0.15
Frontal Lobe7.51 ± 0.27
Globus Pallidus7.71 ± 0.19
Hypothalamus7.49 ± 0.39
Insula7.4 ± 0.29
Limbic Lobe7.68 ± 0.26
Mesencephalon7.63 ± 0.3
Myelencephalon7.57 ± 0.29
Occipital Lobe7.79 ± 0.27
Parietal Lobe7.57 ± 0.26
Pontine Tegmentum7.67 ± 0.24
Striatum7.81 ± 0.27
Subthalamus7.43 ± 0.13
Temporal Lobe7.5 ± 0.3
Thalamus7.62 ± 0.28
White Matter7.54 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5830433M19RikCBCerebellum1.23
1.64
5830433M19RikCTXCerebral cortex13.43
9.81
5830433M19RikHIPHippocampal region26.82
30.44
5830433M19RikHPFHippocampal formation22.96
23.8
5830433M19RikHYHypothalamus21.61
17.68
5830433M19RikLSXLateral septal complex1.18
0.92
5830433M19RikMBMidbrain3.98
4.42
5830433M19RikMYMedulla2.22
3.79
5830433M19RikOLFOlfactory bulb14.85
12.1
5830433M19RikPPons4.65
7.69
5830433M19RikPALPallidum13.88
13.14
5830433M19RikRHPRetrohippocampal region13.56
11.76
5830433M19RiksAMYStriatum-like amygdalar nuclei23.55
16.81
5830433M19RikSTRStriatum9.84
7.27
5830433M19RikSTRdStriatum dorsal region7.5
5.56
5830433M19RikSTRvStriatum ventral region13.54
9.7
5830433M19RikTHThalamus19.57
16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010613 13 177 189 KLCQEQLELLSEK Peptide Atlas

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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