AutismKB 2.0

Annotation Detail for C9orf46


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Basic Information Top
Gene Symbol:C9orf46 ( FLJ14688,FLJ39176,MDS030 )
Gene Full Name: chromosome 9 open reading frame 46
Band: 9p24.1
Quick LinksEntrez ID:55848; OMIM: NA; Uniprot ID:CI046_HUMAN; ENSEMBL ID: ENSG00000107020; 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 body1 / 7076114
blastocyst0 / 623190 
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult52 / 193912126
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal65 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor22 / 125191175
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue22 / 149255147
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye5 / 21105423
heart2 / 8962622
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node3 / 9161032
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta3 / 28082510
prostate6 / 18934531
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach1 / 9661910
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218992_at
Cell line Expression level Expression bar
721_B_lymphoblasts44.25
Adipocyte4
AdrenalCortex3.45
Adrenalgland2.8
Amygdala4.35
Appendix3.4
AtrioventricularNode2.5
BDCA4+_DentriticCells7.85
Bonemarrow3.6
BronchialEpithelialCells61.5
CD105+_Endothelial7.25
CD14+_Monocytes5.05
CD19+_BCells(neg._sel.)15.65
CD33+_Myeloid5.1
CD34+10.9
CD4+_Tcells7.6
CD56+_NKCells16.3
CD71+_EarlyErythroid3.15
CD8+_Tcells8.7
CardiacMyocytes4.4
Caudatenucleus3.05
Cerebellum2.7
CerebellumPeduncles3.8
CiliaryGanglion2.35
CingulateCortex3.35
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.5
FetalThyroid5.55
Fetalbrain3.45
Fetalliver2.9
Fetallung3.05
GlobusPallidus2.4
Heart4.2
Hypothalamus3.7
Kidney2.7
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-6010.45
Leukemialymphoblastic(MOLT-4)4.8
Liver4.35
Lung3.9
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.4
Lymphoma_burkitts(Raji)5
MedullaOblongata3.1
OccipitalLobe3
OlfactoryBulb2.65
Ovary2.2
Pancreas3.15
PancreaticIslet3.9
ParietalLobe3.5
Pituitary3.95
Placenta10
Pons3.4
PrefrontalCortex4.2
Prostate4.05
Salivarygland2.7
SkeletalMuscle3.75
Skin2.55
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.8
TemporalLobe3.05
Testis2.9
TestisGermCell2.85
TestisIntersitial2.8
TestisLeydigCell3.3
TestisSeminiferousTubule2.9
Thalamus3.35
Thymus10.85
Thyroid4.9
Tongue3.55
Tonsil4.75
Trachea2.85
TrigeminalGanglion3.65
Uterus3.25
UterusCorpus3
WholeBlood5.3
Wholebrain2.9
colon11.3
pineal_day4.3
pineal_night4.18
retina5.375
small_intestine9.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10161_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
Amygdala5.27 ± 0.65
Basal Forebrain5.44 ± 0.3
Basal Part of Pons5.11 ± 0.36
Cerebellar Cortex5.12 ± 0.29
Cerebellar Nuclei5.35 ± 0.51
Claustrum4.81 ± 0.67
Epithalamus6.06 ± 0.47
Frontal Lobe5.4 ± 0.39
Globus Pallidus6.2 ± 0.23
Hypothalamus5.49 ± 0.41
Insula5.23 ± 0.5
Limbic Lobe5.15 ± 0.41
Mesencephalon5.33 ± 0.59
Myelencephalon5.36 ± 0.47
Occipital Lobe5.25 ± 0.39
Parietal Lobe5.34 ± 0.39
Pontine Tegmentum5.51 ± 0.4
Striatum5.89 ± 0.3
Subthalamus5.4 ± 0.38
Temporal Lobe5.33 ± 0.41
Thalamus5.41 ± 0.38
White Matter6.27 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5033414D02RikCBCerebellum0
0
5033414D02RikCTXCerebral cortex0
0
5033414D02RikHIPHippocampal region0
0
5033414D02RikHPFHippocampal formation0
0
5033414D02RikHYHypothalamus0
0
5033414D02RikLSXLateral septal complex0
0
5033414D02RikMBMidbrain0
0
5033414D02RikMYMedulla0
0
5033414D02RikOLFOlfactory bulb0
0
5033414D02RikPPons0
0
5033414D02RikPALPallidum0
0
5033414D02RikRHPRetrohippocampal region0
0
5033414D02RiksAMYStriatum-like amygdalar nuclei0
0
5033414D02RikSTRStriatum0
0
5033414D02RikSTRdStriatum dorsal region0
0
5033414D02RikSTRvStriatum ventral region0
0
5033414D02RikTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CI046_HUMAN_126 10 126 135 GMITFESIEK PRIDE

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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