AutismKB 2.0

Annotation Detail for RBFOX2


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Basic Information Top
Gene Symbol:RBFOX2 ( FOX2,Fox-2,HNRBP2,HRNBP2,RBM9,RTA,dJ106I20.3,fxh )
Gene Full Name: RNA binding protein, fox-1 homolog (C. elegans) 2
Band: 22q12.3
Quick LinksEntrez ID:23543; OMIM: 612149; Uniprot ID:RFOX2_HUMAN; ENSEMBL ID: ENSG00000100320; HGNC ID: 9906
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 body15 / 70761211
blastocyst11 / 62319176
fetus173 / 564012306
neonate1 / 3109732
infant5 / 23620211
juvenile5 / 5555689
adult186 / 193912195
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor5 / 34366145
chondrosarcoma17 / 82823205
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor27 / 263845102
glioma7 / 10688365
head and neck tumor12 / 13630288
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal467 / 3360307138
ovarian tumor12 / 76682156
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer6 / 10268058
retinoblastoma4 / 4635686
skin tumor8 / 12494964
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites5 / 40015124
bladder0 / 297570 
blood0 / 1234780 
bone7 / 7165597
bone marrow2 / 4880140
brain202 / 1100989183
cervix6 / 48171124
connective tissue25 / 149255167
ear2 / 16212123
embryonic tissue47 / 215722217
esophagus0 / 202090 
eye28 / 211054132
heart18 / 89626200
intestine26 / 234472110
kidney10 / 21177747
larynx0 / 241450 
liver7 / 20774333
lung45 / 336974133
lymph0 / 442700 
lymph node5 / 9161054
mammary gland6 / 15327139
mouth3 / 6705244
muscle12 / 107715111
nerve2 / 15768126
ovary15 / 102051146
pancreas11 / 21481251
parathyroid5 / 20539243
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta21 / 28082574
prostate17 / 18934589
salivary gland2 / 2015599
skin22 / 210574104
spleen6 / 53952111
stomach5 / 9661951
testis22 / 33044266
thymus1 / 8113112
thyroid8 / 47473168
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus24 / 232878103
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212104_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.25
Adipocyte59.2
AdrenalCortex30.95
Adrenalgland27
Amygdala76.6
Appendix27.9
AtrioventricularNode13.8
BDCA4+_DentriticCells8.25
Bonemarrow23.85
BronchialEpithelialCells121.05
CD105+_Endothelial10.25
CD14+_Monocytes9.85
CD19+_BCells(neg._sel.)14.15
CD33+_Myeloid9.15
CD34+11.85
CD4+_Tcells7.8
CD56+_NKCells7.3
CD71+_EarlyErythroid11.25
CD8+_Tcells8.9
CardiacMyocytes112.65
Caudatenucleus21.25
Cerebellum84.4
CerebellumPeduncles162.35
CiliaryGanglion7.4
CingulateCortex172.3
Colorectaladenocarcinoma23.85
DorsalRootGanglion17.5
FetalThyroid86.95
Fetalbrain293.4
Fetalliver17.95
Fetallung37.55
GlobusPallidus57
Heart19.65
Hypothalamus37.55
Kidney17.55
Leukemia_chronicMyelogenousK-5629
Leukemia_promyelocytic-HL-6014.15
Leukemialymphoblastic(MOLT-4)14.65
Liver51.2
Lung61.7
Lymphnode9
Lymphoma_burkitts(Daudi)29.45
Lymphoma_burkitts(Raji)42.3
MedullaOblongata102.95
OccipitalLobe60.2
OlfactoryBulb25.5
Ovary19.95
Pancreas21.8
PancreaticIslet41.75
ParietalLobe67.3
Pituitary97.2
Placenta52
Pons107.6
PrefrontalCortex358.25
Prostate264.45
Salivarygland7.45
SkeletalMuscle60.05
Skin12.4
SmoothMuscle281.95
Spinalcord14.8
SubthalamicNucleus47.15
SuperiorCervicalGanglion51.5
TemporalLobe155
Testis24.4
TestisGermCell27.1
TestisIntersitial15.65
TestisLeydigCell22.75
TestisSeminiferousTubule26.45
Thalamus31.15
Thymus19.8
Thyroid34.1
Tongue77.4
Tonsil17.55
Trachea29.7
TrigeminalGanglion26.2
Uterus600.6
UterusCorpus61.5
WholeBlood14.05
Wholebrain224.8
colon54
pineal_day88.54
pineal_night104.16
retina31
small_intestine43.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P103099
  • 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
Amygdala7.67 ± 0.52
Basal Forebrain7.59 ± 0.16
Basal Part of Pons8.03 ± 0.16
Cerebellar Cortex8 ± 0.17
Cerebellar Nuclei7.25 ± 0.73
Claustrum7.65 ± 0.39
Epithalamus6.81 ± 0.57
Frontal Lobe7.67 ± 0.44
Globus Pallidus6.41 ± 0.32
Hypothalamus7.31 ± 0.64
Insula7.76 ± 0.27
Limbic Lobe7.77 ± 0.34
Mesencephalon7.38 ± 0.54
Myelencephalon7.52 ± 0.52
Occipital Lobe7.78 ± 0.33
Parietal Lobe7.59 ± 0.39
Pontine Tegmentum7.58 ± 0.33
Striatum7.05 ± 0.35
Subthalamus6.94 ± 0.87
Temporal Lobe7.77 ± 0.31
Thalamus7.68 ± 0.33
White Matter5.77 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbm9HYHypothalamus62.61
53.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00481948 9 114 122 LHVSNIPFR Peptide Atlas
RBM9_HUMAN_139 8 139 146 QMFGQFGK 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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