AutismKB 2.0

Annotation Detail for RFX4


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Basic Information Top
Gene Symbol:RFX4 ( NYD-SP10 )
Gene Full Name: regulatory factor X, 4 (influences HLA class II expression)
Band: 12q23.3
Quick LinksEntrez ID:5992; OMIM: 603958; Uniprot ID:RFX4_HUMAN; ENSEMBL ID: ENSG00000111783; HGNC ID: 9985
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 body2 / 7076128
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal74 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
bone0 / 716550 
bone marrow0 / 488010 
brain31 / 110098928
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis201 / 330442608
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14413_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
Amygdala3.35 ± 0.53
Basal Forebrain3.38 ± 0.51
Basal Part of Pons2.24 ± 0.54
Cerebellar Cortex2.4 ± 0.56
Cerebellar Nuclei2.72 ± 1.06
Claustrum3.24 ± 0.35
Epithalamus4.36 ± 0.6
Frontal Lobe2.67 ± 0.86
Globus Pallidus4.89 ± 0.52
Hypothalamus3.48 ± 0.8
Insula2.82 ± 0.62
Limbic Lobe2.65 ± 0.82
Mesencephalon3.2 ± 0.71
Myelencephalon3.02 ± 0.84
Occipital Lobe3.26 ± 0.86
Parietal Lobe2.85 ± 0.87
Pontine Tegmentum2.98 ± 0.82
Striatum3.75 ± 0.63
Subthalamus2.77 ± 0.17
Temporal Lobe2.64 ± 0.72
Thalamus3.24 ± 0.51
White Matter2.62 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rfx4CBCerebellum17.28
25.33
Rfx4CTXCerebral cortex3.46
2.69
Rfx4HIPHippocampal region2.67
3
Rfx4HPFHippocampal formation3.37
3.39
Rfx4HYHypothalamus2.79
3.77
Rfx4LSXLateral septal complex1.73
1.39
Rfx4MBMidbrain1.87
2.81
Rfx4MYMedulla3.06
3.21
Rfx4OLFOlfactory bulb1.97
1.53
Rfx4PPons2.64
2.84
Rfx4PALPallidum0.68
0.61
Rfx4RHPRetrohippocampal region4.3
3.72
Rfx4sAMYStriatum-like amygdalar nuclei2.06
2.18
Rfx4STRStriatum1.81
1.45
Rfx4STRdStriatum dorsal region1.82
1.45
Rfx4STRvStriatum ventral region1.31
0.84
Rfx4THThalamus1.92
2.23
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