AutismKB 2.0

Annotation Detail for C9orf86


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Basic Information Top
Gene Symbol:C9orf86 ( FLJ10101,FLJ13045,Parf,RBEL1,bA216L13.9,pp8875 )
Gene Full Name: chromosome 9 open reading frame 86
Band: 9q34.3
Quick LinksEntrez ID:55684; OMIM: 610615; Uniprot ID:PARF_HUMAN; ENSEMBL ID: ENSG00000196642; 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 body10 / 70761141
blastocyst12 / 62319192
fetus25 / 56401244
neonate0 / 310970 
infant1 / 2362042
juvenile5 / 5555689
adult175 / 193912190
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor12 / 94178127
cervical tumor7 / 34366203
chondrosarcoma9 / 82823108
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor15 / 119369125
germ cell tumor38 / 263845144
glioma15 / 106883140
head and neck tumor1 / 1363027
kidney tumor17 / 68959246
leukemia9 / 9584293
liver tumor15 / 96359155
lung tumor27 / 103127261
lymphoma30 / 71755418
non-neoplasia3 / 9725030
normal258 / 336030776
ovarian tumor5 / 7668265
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer19 / 102680185
retinoblastoma11 / 46356237
skin tumor11 / 12494988
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites7 / 40015174
bladder0 / 297570 
blood8 / 12347864
bone11 / 71655153
bone marrow1 / 4880120
brain89 / 110098980
cervix10 / 48171207
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue39 / 215722180
esophagus1 / 2020949
eye26 / 211054123
heart2 / 8962622
intestine23 / 23447298
kidney23 / 211777108
larynx0 / 241450 
liver37 / 207743178
lung40 / 336974118
lymph29 / 44270655
lymph node10 / 91610109
mammary gland20 / 153271130
mouth0 / 670520 
muscle15 / 107715139
nerve1 / 1576863
ovary17 / 102051166
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta35 / 280825124
prostate25 / 189345132
salivary gland1 / 2015549
skin15 / 21057471
spleen1 / 5395218
stomach5 / 9661951
testis19 / 33044257
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus18 / 23287877
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219828_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.4
Adipocyte4.1
AdrenalCortex4.3
Adrenalgland3.45
Amygdala4.2
Appendix5.1
AtrioventricularNode3.05
BDCA4+_DentriticCells5.55
Bonemarrow4.15
BronchialEpithelialCells4.3
CD105+_Endothelial5.85
CD14+_Monocytes4.3
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.2
CD34+5.4
CD4+_Tcells6.35
CD56+_NKCells5.1
CD71+_EarlyErythroid23.6
CD8+_Tcells5.1
CardiacMyocytes5.3
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.7
CiliaryGanglion2.85
CingulateCortex4.2
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.1
FetalThyroid4.05
Fetalbrain4.05
Fetalliver4.75
Fetallung3.5
GlobusPallidus3
Heart5.15
Hypothalamus4.45
Kidney3.4
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.35
Liver5.5
Lung4.6
Lymphnode3.7
Lymphoma_burkitts(Daudi)5.25
Lymphoma_burkitts(Raji)5.85
MedullaOblongata3.8
OccipitalLobe3.6
OlfactoryBulb3.3
Ovary2.75
Pancreas3.3
PancreaticIslet4.45
ParietalLobe4.3
Pituitary4.85
Placenta4.3
Pons3.9
PrefrontalCortex5.2
Prostate4.95
Salivarygland3.5
SkeletalMuscle4.9
Skin3.1
SmoothMuscle4.7
Spinalcord4.4
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.75
TemporalLobe3.75
Testis3.6
TestisGermCell3.5
TestisIntersitial3.45
TestisLeydigCell4.05
TestisSeminiferousTubule3.5
Thalamus4.15
Thymus3.4
Thyroid5.25
Tongue4.05
Tonsil4
Trachea3.85
TrigeminalGanglion4.2
Uterus3.45
UterusCorpus4.2
WholeBlood4.5
Wholebrain3.6
colon4.2
pineal_day6.58
pineal_night5.38
retina5
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P477102
  • 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
Amygdala6.6 ± 0.56
Basal Forebrain6.89 ± 0.31
Basal Part of Pons7.25 ± 0.48
Cerebellar Cortex7.05 ± 0.43
Cerebellar Nuclei6.64 ± 0.59
Claustrum6.43 ± 0.73
Epithalamus6.9 ± 0.59
Frontal Lobe6.84 ± 0.45
Globus Pallidus6.43 ± 0.47
Hypothalamus6.63 ± 0.47
Insula6.85 ± 0.41
Limbic Lobe6.8 ± 0.44
Mesencephalon6.73 ± 0.39
Myelencephalon6.88 ± 0.45
Occipital Lobe6.79 ± 0.34
Parietal Lobe6.87 ± 0.46
Pontine Tegmentum6.74 ± 0.42
Striatum7.26 ± 0.4
Subthalamus6.51 ± 0.83
Temporal Lobe6.98 ± 0.34
Thalamus6.9 ± 0.43
White Matter6.59 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
B230208H17RikCBCerebellum66.81
100
B230208H17RikCTXCerebral cortex100
100
B230208H17RikHIPHippocampal region100
100
B230208H17RikHPFHippocampal formation100
100
B230208H17RikHYHypothalamus84.59
73.45
B230208H17RikLSXLateral septal complex100
100
B230208H17RikMBMidbrain80.96
80.78
B230208H17RikMYMedulla68.21
80.82
B230208H17RikOLFOlfactory bulb91.33
86.97
B230208H17RikPPons59.96
68.19
B230208H17RikPALPallidum63.04
61.96
B230208H17RikRHPRetrohippocampal region100
94.59
B230208H17RiksAMYStriatum-like amygdalar nuclei68.89
53.95
B230208H17RikSTRStriatum99.1
78.36
B230208H17RikSTRdStriatum dorsal region99.57
78.12
B230208H17RikSTRvStriatum ventral region100
89.25
B230208H17RikTHThalamus83.37
78.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PARF_HUMAN_1 17 1 17 MFSALKKLVGSDQAPGR PRIDE
PARF_HUMAN_225 11 225 235 FFNIPFLQLQR PRIDE
PAp00010269 15 483 497 GPAPAPQQCSEPETK 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