AutismKB 2.0

Annotation Detail for RFX3


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Basic Information Top
Gene Symbol:RFX3 ( MGC87155,bA32F11.1 )
Gene Full Name: regulatory factor X, 3 (influences HLA class II expression)
Band: 9p24.2
Quick LinksEntrez ID:5991; OMIM: 601337; Uniprot ID:RFX3_HUMAN; ENSEMBL ID: ENSG00000080298; HGNC ID: 9984
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 body0 / 707610 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal57 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor5 / 9025755
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
bone0 / 716550 
bone marrow1 / 4880120
brain10 / 11009899
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis37 / 330442111
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207234_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte7.35
AdrenalCortex8.7
Adrenalgland6.55
Amygdala7.75
Appendix9.25
AtrioventricularNode12.95
BDCA4+_DentriticCells7.7
Bonemarrow8.35
BronchialEpithelialCells7.2
CD105+_Endothelial7.6
CD14+_Monocytes7.9
CD19+_BCells(neg._sel.)7.9
CD33+_Myeloid9.1
CD34+8.95
CD4+_Tcells7.8
CD56+_NKCells8.8
CD71+_EarlyErythroid7.1
CD8+_Tcells6.8
CardiacMyocytes11.45
Caudatenucleus6.6
Cerebellum6.1
CerebellumPeduncles8.8
CiliaryGanglion8.9
CingulateCortex7.95
Colorectaladenocarcinoma7.5
DorsalRootGanglion10.55
FetalThyroid7.65
Fetalbrain7.3
Fetalliver6.5
Fetallung6.15
GlobusPallidus5.8
Heart11.15
Hypothalamus7.55
Kidney6.5
Leukemia_chronicMyelogenousK-5626.7
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)5.9
Liver11.55
Lung8.2
Lymphnode5.95
Lymphoma_burkitts(Daudi)9.9
Lymphoma_burkitts(Raji)11.3
MedullaOblongata6.8
OccipitalLobe6.6
OlfactoryBulb5.85
Ovary6.6
Pancreas6.25
PancreaticIslet8.2
ParietalLobe7.95
Pituitary8.75
Placenta7.4
Pons7.75
PrefrontalCortex9.15
Prostate8.7
Salivarygland6.5
SkeletalMuscle10.1
Skin8.95
SmoothMuscle8.4
Spinalcord7.8
SubthalamicNucleus7.15
SuperiorCervicalGanglion19.2
TemporalLobe7
Testis6.45
TestisGermCell6.1
TestisIntersitial6.4
TestisLeydigCell7.6
TestisSeminiferousTubule6.55
Thalamus7.75
Thymus5.75
Thyroid9.05
Tongue8.95
Tonsil7.9
Trachea6.2
TrigeminalGanglion19.9
Uterus6.15
UterusCorpus11.1
WholeBlood8.1
Wholebrain6.3
colon7.5
pineal_day9.08
pineal_night8.98
retina9.1
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1251_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
Amygdala7.73 ± 0.55
Basal Forebrain7.25 ± 0.14
Basal Part of Pons6.52 ± 0.44
Cerebellar Cortex7.2 ± 0.6
Cerebellar Nuclei6.55 ± 0.31
Claustrum7.44 ± 0.67
Epithalamus8.07 ± 0.77
Frontal Lobe6.87 ± 0.71
Globus Pallidus7.03 ± 0.54
Hypothalamus6.87 ± 0.3
Insula7.19 ± 0.56
Limbic Lobe7.47 ± 0.72
Mesencephalon7.17 ± 0.45
Myelencephalon7.11 ± 0.56
Occipital Lobe7.44 ± 0.51
Parietal Lobe7.1 ± 0.58
Pontine Tegmentum7.07 ± 0.67
Striatum7.06 ± 0.49
Subthalamus6.72 ± 0.13
Temporal Lobe7.2 ± 0.51
Thalamus6.74 ± 0.32
White Matter6.94 ± 0.63
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rfx3CBCerebellum19.03
26.14
Rfx3CTXCerebral cortex41.5
38.42
Rfx3HIPHippocampal region85.77
100
Rfx3HPFHippocampal formation69.73
99.64
Rfx3HYHypothalamus24.4
19.31
Rfx3LSXLateral septal complex32.79
27.77
Rfx3MBMidbrain23.78
23.17
Rfx3MYMedulla16.77
18.27
Rfx3OLFOlfactory bulb83.93
93.29
Rfx3PPons21.14
20.89
Rfx3PALPallidum16.92
14.52
Rfx3RHPRetrohippocampal region35.57
43.2
Rfx3sAMYStriatum-like amygdalar nuclei65.81
63.8
Rfx3STRStriatum38.36
30.35
Rfx3STRdStriatum dorsal region30.3
22.78
Rfx3STRvStriatum ventral region55.25
40.54
Rfx3THThalamus23.86
21.28
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