AutismKB 2.0

Annotation Detail for RFX1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RFX1 ( EFC,RFX )
Gene Full Name: regulatory factor X, 1 (influences HLA class II expression)
Band: 19p13.12
Quick LinksEntrez ID:5989; OMIM: 600006; Uniprot ID:RFX1_HUMAN; ENSEMBL ID: ENSG00000132005; HGNC ID: 9982
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 
fetus6 / 56401210
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma9 / 10688384
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal32 / 33603079
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow2 / 4880140
brain13 / 110098911
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine4 / 23447217
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate4 / 18934521
salivary gland1 / 2015549
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis5 / 33044215
thymus1 / 8113112
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206321_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte3.3
AdrenalCortex3.55
Adrenalgland2.75
Amygdala3.45
Appendix3.3
AtrioventricularNode2.5
BDCA4+_DentriticCells3.7
Bonemarrow3.25
BronchialEpithelialCells3.25
CD105+_Endothelial3.35
CD14+_Monocytes3.5
CD19+_BCells(neg._sel.)3.5
CD33+_Myeloid4.3
CD34+4.25
CD4+_Tcells3.6
CD56+_NKCells3.95
CD71+_EarlyErythroid3.1
CD8+_Tcells3.2
CardiacMyocytes4.2
Caudatenucleus2.95
Cerebellum2.7
CerebellumPeduncles3.75
CiliaryGanglion2.35
CingulateCortex3.45
Colorectaladenocarcinoma3.3
DorsalRootGanglion2.5
FetalThyroid3.2
Fetalbrain3.3
Fetalliver2.85
Fetallung2.75
GlobusPallidus2.4
Heart4.15
Hypothalamus3.6
Kidney2.65
Leukemia_chronicMyelogenousK-5622.95
Leukemia_promyelocytic-HL-602.9
Leukemialymphoblastic(MOLT-4)2.65
Liver4.35
Lung3.65
Lymphnode2.85
Lymphoma_burkitts(Daudi)4.2
Lymphoma_burkitts(Raji)4.6
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.6
Ovary2.2
Pancreas2.7
PancreaticIslet3.5
ParietalLobe3.45
Pituitary3.9
Placenta3.5
Pons3.15
PrefrontalCortex4.15
Prostate3.9
Salivarygland2.65
SkeletalMuscle3.8
Skin2.55
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.7
TemporalLobe3
Testis2.85
TestisGermCell2.8
TestisIntersitial2.75
TestisLeydigCell3.25
TestisSeminiferousTubule2.8
Thalamus3.35
Thymus2.6
Thyroid4.2
Tongue3.25
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.3
Uterus2.7
UterusCorpus2.95
WholeBlood3.65
Wholebrain2.85
colon3.35
pineal_day4.16
pineal_night4.08
retina4
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15614_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
Amygdala14.99 ± 0.58
Basal Forebrain14.76 ± 0.21
Basal Part of Pons14.83 ± 0.54
Cerebellar Cortex14.16 ± 0.4
Cerebellar Nuclei14.96 ± 0.44
Claustrum15.34 ± 0.74
Epithalamus14.15 ± 0.62
Frontal Lobe14.6 ± 0.61
Globus Pallidus15.37 ± 0.28
Hypothalamus14.43 ± 0.5
Insula14.59 ± 0.43
Limbic Lobe14.85 ± 0.61
Mesencephalon14.81 ± 0.46
Myelencephalon14.75 ± 0.61
Occipital Lobe14.65 ± 0.61
Parietal Lobe14.69 ± 0.57
Pontine Tegmentum14.53 ± 0.58
Striatum14.84 ± 0.58
Subthalamus14.63 ± 0.13
Temporal Lobe14.54 ± 0.68
Thalamus14.73 ± 0.41
White Matter15.41 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rfx1CBCerebellum7.75
6.53
Rfx1CTXCerebral cortex16.96
10.69
Rfx1HIPHippocampal region23.66
16.34
Rfx1HPFHippocampal formation23.86
16.55
Rfx1HYHypothalamus20.73
13.09
Rfx1LSXLateral septal complex12.39
7.31
Rfx1MBMidbrain12.32
8.23
Rfx1MYMedulla13.15
10.94
Rfx1OLFOlfactory bulb32.93
21.79
Rfx1PPons15.93
12.52
Rfx1PALPallidum9.96
6.86
Rfx1RHPRetrohippocampal region24.1
17.55
Rfx1sAMYStriatum-like amygdalar nuclei25.28
15.66
Rfx1STRStriatum17.01
10.21
Rfx1STRdStriatum dorsal region13.39
7.87
Rfx1STRvStriatum ventral region29.55
17.3
Rfx1THThalamus12.72
8.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00538075 33 112 144 ASETVSEASPGSTASQTGVPTQVVQQVQGTQQR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved