AutismKB 2.0

Annotation Detail for RFX2


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Basic Information Top
Gene Symbol:RFX2 ( FLJ14226 )
Gene Full Name: regulatory factor X, 2 (influences HLA class II expression)
Band: 19p13.3
Quick LinksEntrez ID:5990; OMIM: 142765; Uniprot ID:RFX2_HUMAN; ENSEMBL ID: ENSG00000087903; HGNC ID: 9983
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
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult49 / 193912125
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 tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor18 / 26384568
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal124 / 336030736
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow11 / 48801225
brain66 / 110098959
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung21 / 33697462
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach0 / 966190 
testis119 / 330442360
thymus8 / 8113198
thyroid0 / 474730 
tonsil0 / 169990 
trachea16 / 52413305
umbilical cord0 / 136800 
uterus25 / 232878107
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208031_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte7
AdrenalCortex10.25
Adrenalgland5.7
Amygdala9.8
Appendix7.65
AtrioventricularNode5.65
BDCA4+_DentriticCells6.55
Bonemarrow15.15
BronchialEpithelialCells6.9
CD105+_Endothelial6.95
CD14+_Monocytes7.3
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid8.55
CD34+7.5
CD4+_Tcells5.75
CD56+_NKCells7.85
CD71+_EarlyErythroid6.6
CD8+_Tcells5.45
CardiacMyocytes9.25
Caudatenucleus6.3
Cerebellum6.25
CerebellumPeduncles8
CiliaryGanglion6.25
CingulateCortex6.95
Colorectaladenocarcinoma7.55
DorsalRootGanglion5.6
FetalThyroid6.85
Fetalbrain6.95
Fetalliver7.4
Fetallung5.6
GlobusPallidus5.3
Heart12.7
Hypothalamus7.3
Kidney5.8
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-606.25
Leukemialymphoblastic(MOLT-4)5.45
Liver9.8
Lung7.85
Lymphnode6.05
Lymphoma_burkitts(Daudi)9.05
Lymphoma_burkitts(Raji)11.95
MedullaOblongata6.4
OccipitalLobe6.05
OlfactoryBulb5.45
Ovary4.75
Pancreas5.7
PancreaticIslet7.6
ParietalLobe7.6
Pituitary10.5
Placenta6.95
Pons7.75
PrefrontalCortex8.25
Prostate8.2
Salivarygland5.7
SkeletalMuscle8.85
Skin5.45
SmoothMuscle8.3
Spinalcord7.55
SubthalamicNucleus6.15
SuperiorCervicalGanglion9
TemporalLobe6.4
Testis18.25
TestisGermCell16.9
TestisIntersitial11.15
TestisLeydigCell21.05
TestisSeminiferousTubule18.4
Thalamus7.2
Thymus5.6
Thyroid10.85
Tongue7.65
Tonsil6.65
Trachea7.05
TrigeminalGanglion7.1
Uterus5.8
UterusCorpus10.05
WholeBlood7.5
Wholebrain5.8
colon7.05
pineal_day8.48
pineal_night7.7
retina8.65
small_intestine6.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6026_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
Amygdala3.03 ± 0.8
Basal Forebrain2.46 ± 0.34
Basal Part of Pons2.42 ± 0.57
Cerebellar Cortex2.6 ± 0.83
Cerebellar Nuclei3.01 ± 0.99
Claustrum3.15 ± 0.98
Epithalamus3.99 ± 0.91
Frontal Lobe2.48 ± 0.78
Globus Pallidus3.41 ± 0.83
Hypothalamus2.26 ± 0.54
Insula2.51 ± 0.83
Limbic Lobe2.6 ± 0.94
Mesencephalon2.78 ± 0.68
Myelencephalon2.77 ± 0.81
Occipital Lobe2.82 ± 0.82
Parietal Lobe2.84 ± 0.65
Pontine Tegmentum2.76 ± 0.75
Striatum2.99 ± 0.68
Subthalamus2.41 ± 0.42
Temporal Lobe2.56 ± 0.72
Thalamus2.64 ± 0.5
White Matter2.54 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rfx2CBCerebellum4.34
6.24
Rfx2CTXCerebral cortex9.97
8.14
Rfx2HIPHippocampal region5.44
6.34
Rfx2HPFHippocampal formation4.69
4.79
Rfx2HYHypothalamus1.55
1.36
Rfx2LSXLateral septal complex0.38
0.4
Rfx2MBMidbrain1.38
1.92
Rfx2MYMedulla2.93
4.48
Rfx2OLFOlfactory bulb14.23
13.78
Rfx2PPons1.08
1.78
Rfx2PALPallidum0.95
0.83
Rfx2RHPRetrohippocampal region3.41
2.61
Rfx2sAMYStriatum-like amygdalar nuclei1.1
1.28
Rfx2STRStriatum1.48
1.29
Rfx2STRdStriatum dorsal region1.18
1.15
Rfx2STRvStriatum ventral region3.99
2.47
Rfx2THThalamus2.67
2.92
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


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