Gene Page:FXN

Summary?
GeneID 2395
Symbol FXN
Synonyms CyaY|FA|FARR|FRDA|X25
Description frataxin
Reference MIM:606829|HGNC:HGNC:3951|Ensembl:ENSG00000165060|HPRD:06013|
Gene type protein-coding
Map location 9q21.11
Pascal p-value 0.041
Sherlock p-value 0.15
DMG 1 (# studies)
eGene Anterior cingulate cortex BA24
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:GWAScat Genome-wide Association Studies This data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:PGCnp Genome-wide Association Study GWAS
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
PMID:cooccur High-throughput literature-search 系统的海rch in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg23667933 9 71650719 FXN 1.09E-9 -0.018 1.23E-6 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs10751722 chr1 27543522 FXN 2395 0.09 trans
rs2289256 chr4 187089132 FXN 2395 0.13 trans
rs7858407 9 71686520 FXN ENSG00000165060.7 3.243E-6 0.05 36345 gtex_brain_ba24
rs3793459 9 71675211 FXN ENSG00000165060.7 4.705E-7 0 25036 gtex_brain_putamen_basal
rs3793460 9 71675220 FXN ENSG00000165060.7 3.207E-6 0 25045 gtex_brain_putamen_basal
rs9314854 9 71686181 FXN ENSG00000165060.7 4.476E-7 0 36006 gtex_brain_putamen_basal
rs7870295 9 71686476 FXN ENSG00000165060.7 2.498E-7 0 36301 gtex_brain_putamen_basal
rs7858407 9 71686520 FXN ENSG00000165060.7 5.895E-7 0 36345 gtex_brain_putamen_basal
rs7861997 9 71686557 FXN ENSG00000165060.7 2.348E-7 0 36382 gtex_brain_putamen_basal
rs7858657 9 71686702 FXN ENSG00000165060.7 9.006E-7 0 36527 gtex_brain_putamen_basal
rs7870727 9 71686866 FXN ENSG00000165060.7 9.006E-7 0 36691 gtex_brain_putamen_basal
rs1411676 9 71686918 FXN ENSG00000165060.7 9.006E-7 0 36743 gtex_brain_putamen_basal
rs1411675 9 71687052 FXN ENSG00000165060.7 9.006E-7 0 36877 gtex_brain_putamen_basal
rs3066313 9 71687400 FXN ENSG00000165060.7 9.006E-7 0 37225 gtex_brain_putamen_basal
rs7025834 9 71687440 FXN ENSG00000165060.7 2.348E-7 0 37265 gtex_brain_putamen_basal
rs529317691 9 71687755 FXN ENSG00000165060.7 2.348E-7 0 37580 gtex_brain_putamen_basal
rs10890 9 71687924 FXN ENSG00000165060.7 9.006E-7 0 37749 gtex_brain_putamen_basal
rs4745577 9 71688101 FXN ENSG00000165060.7 9.006E-7 0 37926 gtex_brain_putamen_basal
rs4744806 9 71688218 FXN ENSG00000165060.7 9.006E-7 0 38043 gtex_brain_putamen_basal
rs4744807 9 71688300 FXN ENSG00000165060.7 2.348E-7 0 38125 gtex_brain_putamen_basal
rs4744808 9 71688311 FXN ENSG00000165060.7 9.006E-7 0 38136 gtex_brain_putamen_basal
rs4744810 9 71689004 FXN ENSG00000165060.7 3.1E-6 0 38829 gtex_brain_putamen_basal
rs2871218 9 71689045 FXN ENSG00000165060.7 4.827E-7 0 38870 gtex_brain_putamen_basal
rs386361262 9 71689116 FXN ENSG00000165060.7 8.993E-7 0 38941 gtex_brain_putamen_basal
rs1984004 9 71689375 FXN ENSG00000165060.7 9.196E-7 0 39200 gtex_brain_putamen_basal
rs1888334 9 71689415 FXN ENSG00000165060.7 2.279E-7 0 39240 gtex_brain_putamen_basal
rs200175861 9 71689447 FXN ENSG00000165060.7 2.434E-6 0 39272 gtex_brain_putamen_basal
rs139068140 9 71689448 FXN ENSG00000165060.7 9.093E-7 0 39273 gtex_brain_putamen_basal
rs1984003 9 71689465 FXN ENSG00000165060.7 1.482E-6 0 39290 gtex_brain_putamen_basal
rs1984002 9 71689633 FXN ENSG00000165060.7 8.779E-7 0 39458 gtex_brain_putamen_basal
rs11432103 9 71689659 FXN ENSG00000165060.7 5.944E-7 0 39484 gtex_brain_putamen_basal
rs4745580 9 71689756 FXN ENSG00000165060.7 2.286E-7 0 39581 gtex_brain_putamen_basal
rs4745581 9 71689880 FXN ENSG00000165060.7 8.813E-7 0 39705 gtex_brain_putamen_basal
rs4745582 9 71690144 FXN ENSG00000165060.7 8.516E-7 0 39969 gtex_brain_putamen_basal
rs150186989 9 71690145 FXN ENSG00000165060.7 1.273E-6 0 39970 gtex_brain_putamen_basal
rs4745583 9 71690182 FXN ENSG00000165060.7 3.842E-7 0 40007 gtex_brain_putamen_basal
rs7865854 9 71690246 FXN ENSG00000165060.7 2.803E-7 0 40071 gtex_brain_putamen_basal
rs7866067 9 71690370 FXN ENSG00000165060.7 2.869E-7 0 40195 gtex_brain_putamen_basal
rs7874989 9 71690501 FXN ENSG00000165060.7 3.236E-7 0 40326 gtex_brain_putamen_basal
rs7875564 9 71690963 FXN ENSG00000165060.7 9.252E-7 0 40788 gtex_brain_putamen_basal
rs7875659 9 71690974 FXN ENSG00000165060.7 9.004E-7 0 40799 gtex_brain_putamen_basal
rs7858249 9 71691030 FXN ENSG00000165060.7 9.002E-7 0 40855 gtex_brain_putamen_basal
rs10781379 9 71691239 FXN ENSG00000165060.7 9.006E-7 0 41064 gtex_brain_putamen_basal
rs7874105 9 71692080 FXN ENSG00000165060.7 8.011E-7 0 41905 gtex_brain_putamen_basal
rs11145063 9 71692137 FXN ENSG00000165060.7 2.372E-7 0 41962 gtex_brain_putamen_basal
rs10869821 9 71692385 FXN ENSG00000165060.7 1.129E-6 0 42210 gtex_brain_putamen_basal
rs11145068 9 71692811 FXN ENSG00000165060.7 9.235E-7 0 42636 gtex_brain_putamen_basal
rs11145069 9 71692824 FXN ENSG00000165060.7 1.665E-6 0 42649 gtex_brain_putamen_basal
rs35104955 9 71692846 FXN ENSG00000165060.7 2.352E-7 0 42671 gtex_brain_putamen_basal
rs11145070 9 71692862 FXN ENSG00000165060.7 1.279E-6 0 42687 gtex_brain_putamen_basal
rs11145072 9 71692944 FXN ENSG00000165060.7 1.299E-6 0 42769 gtex_brain_putamen_basal
rs10869823 9 71693079 FXN ENSG00000165060.7 1.347E-6 0 42904 gtex_brain_putamen_basal
rs7039631 9 71693292 FXN ENSG00000165060.7 1.417E-6 0 43117 gtex_brain_putamen_basal
rs7024295 9 71693481 FXN ENSG00000165060.7 1.483E-6 0 43306 gtex_brain_putamen_basal
rs11301594 9 71693601 FXN ENSG00000165060.7 1.543E-6 0 43426 gtex_brain_putamen_basal
rs57561255 9 71693609 FXN ENSG00000165060.7 1.53E-6 0 43434 gtex_brain_putamen_basal
rs1045632 9 71693777 FXN ENSG00000165060.7 1.596E-6 0 43602 gtex_brain_putamen_basal
rs4745585 9 71694084 FXN ENSG00000165060.7 2.453E-6 0 43909 gtex_brain_putamen_basal
rs4744811 9 71694139 FXN ENSG00000165060.7 2.348E-7 0 43964 gtex_brain_putamen_basal
rs11145079 9 71694181 FXN ENSG00000165060.7 2.703E-6 0 44006 gtex_brain_putamen_basal
rs7859021 9 71694259 FXN ENSG00000165060.7 1.677E-6 0 44084 gtex_brain_putamen_basal
rs7028835 9 71694592 FXN ENSG00000165060.7 1.618E-6 0 44417 gtex_brain_putamen_basal
rs7035156 9 71694719 FXN ENSG00000165060.7 1.631E-6 0 44544 gtex_brain_putamen_basal
rs10869824 9 71694927 FXN ENSG00000165060.7 2.02E-6 0 44752 gtex_brain_putamen_basal
rs56078943 9 71695574 FXN ENSG00000165060.7 1.629E-6 0 45399 gtex_brain_putamen_basal
rs56102961 9 71695688 FXN ENSG00000165060.7 1.864E-6 0 45513 gtex_brain_putamen_basal
rs12348477 9 71695867 FXN ENSG00000165060.7 1.729E-6 0 45692 gtex_brain_putamen_basal
rs7041324 9 71695925 FXN ENSG00000165060.7 1.677E-6 0 45750 gtex_brain_putamen_basal
rs6560545 9 71696140 FXN ENSG00000165060.7 1.679E-6 0 45965 gtex_brain_putamen_basal
rs6560546 9 71696411 FXN ENSG00000165060.7 1.679E-6 0 46236 gtex_brain_putamen_basal
rs6560547 9 71696685 FXN ENSG00000165060.7 2.498E-7 0 46510 gtex_brain_putamen_basal
rs6560550 9 71697916 FXN ENSG00000165060.7 2.345E-7 0 47741 gtex_brain_putamen_basal
rs6560551 9 71698202 FXN ENSG00000165060.7 2.498E-7 0 48027 gtex_brain_putamen_basal
rs11145105 9 71698978 FXN ENSG00000165060.7 2.493E-7 0 48803 gtex_brain_putamen_basal
rs10747003 9 71702098 FXN ENSG00000165060.7 1.538E-6 0 51923 gtex_brain_putamen_basal
rs10116434 9 71702821 FXN ENSG00000165060.7 1.294E-6 0 52646 gtex_brain_putamen_basal
rs11145124 9 71702999 FXN ENSG00000165060.7 1.018E-6 0 52824 gtex_brain_putamen_basal
rs62567097 9 71730265 FXN ENSG00000165060.7 3.449E-6 0 80090 gtex_brain_putamen_basal
rs11145326 9 71733142 FXN ENSG00000165060.7 3.792E-6 0 82967 gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0005381 iron ion transmembrane transporter activity TAS 9326946
GO:0004428 inositol or phosphatidylinositol kinase activity TAS 8841185
GO:0009055 electron carrier activity TAS 9326946
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0007268 synaptic transmission TAS neuron, Synap, Neurotransmitter (GO term level: 6) 8841185
GO:0006879 cellular iron ion homeostasis IEA -
GO:0006879 cellular iron ion homeostasis TAS 9180083
GO:0016192 vesicle-mediated transport TAS 8841185
GO:0055114 oxidation reduction TAS 9180083
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005739 mitochondrion IEA -
GO:0005739 mitochondrion TAS 9241270

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PID HIF2PATHWAY 34 29 All SZGR 2.0 genes in this pathway
REACTOME MITOCHONDRIAL PROTEIN IMPORT 58 24 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF PROTEINS 518 242 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 12HR DN 209 122 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375 806 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770 415 All SZGR 2.0 genes in this pathway
SCHLOSSER MYC TARGETS AND SERUM RESPONSE UP 47 32 All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 1652 1023 All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442 892 All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK 779 480 All SZGR 2.0 genes in this pathway
GARCIA TARGETS OF FLI1 AND DAX1 DN 176 104 All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230 156 All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN 289 166 All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC 182 116 All SZGR 2.0 genes in this pathway
SCHUHMACHER MYC TARGETS UP 80 57 All SZGR 2.0 genes in this pathway
GUO HEX TARGETS DN 65 36 All SZGR 2.0 genes in this pathway
HOEGERKORP CD44 TARGETS TEMPORAL DN 25 16 All SZGR 2.0 genes in this pathway
RAMASWAMY METASTASIS DN 61 47 All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428 266 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 6 189 112 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911 527 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011 592 All SZGR 2.0 genes in this pathway
SANSOM WNT PATHWAY REQUIRE MYC 58 43 All SZGR 2.0 genes in this pathway
STEARMAN LUNG CANCER EARLY VS LATE UP 125 89 All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429 260 All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447 277 All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605 377 All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING DN 225 124 All SZGR 2.0 genes in this pathway
DANG MYC TARGETS UP 143 100 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462 273 All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE NOT VIA P38 337 236 All SZGR 2.0 genes in this pathway