Gene Page:FAH

Summary?
GeneID 2184
Symbol FAH
Synonyms -
Description fumarylacetoacetate hydrolase (fumarylacetoacetase)
Reference MIM:613871|HGNC:HGNC:3579|Ensembl:ENSG00000103876|HPRD:02040|Vega:OTTHUMG00000144187
Gene type protein-coding
Map location 15q25.1
Pascal p-value 0.01
Fetal beta -0.794
DMG 1 (# studies)
eGene Anterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Nishioka_2013 Genome-wide DNA methylation analysis The authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 1

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg07699440 15 80445357 FAH -0.021 0.42 DMG:Nishioka_2013

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs34053230 15 80448562 FAH ENSG00000103876.7 1.702E-6 0 3730 gtex_brain_ba24
rs35271165 15 80448626 FAH ENSG00000103876.7 2.355E-10 0 3794 gtex_brain_ba24
rs71397596 15 80449583 FAH ENSG00000103876.7 2.567E-9 0 4751 gtex_brain_ba24
rs35880073 15 80452013 FAH ENSG00000103876.7 2.485E-9 0 7181 gtex_brain_ba24
rs33929922 15 80452172 FAH ENSG00000103876.7 2.485E-9 0 7340 gtex_brain_ba24
rs2014531 15 80452943 FAH ENSG00000103876.7 2.485E-9 0 8111 gtex_brain_ba24
rs11856427 15 80453914 FAH ENSG00000103876.7 9.262E-8 0 9082 gtex_brain_ba24
rs11852901 15 80453971 FAH ENSG00000103876.7 2.513E-9 0 9139 gtex_brain_ba24
rs12907580 15 80455234 FAH ENSG00000103876.7 2.18E-10 0 10402 gtex_brain_ba24
rs34497292 15 80458548 FAH ENSG00000103876.7 2.254E-9 0 13716 gtex_brain_ba24
rs202244731 15 80458981 FAH ENSG00000103876.7 2.668E-8 0 14149 gtex_brain_ba24
rs6495476 15 80458982 FAH ENSG00000103876.7 2.668E-8 0 14150 gtex_brain_ba24
rs12910663 15 80467964 FAH ENSG00000103876.7 2.321E-9 0 23132 gtex_brain_ba24
rs12912992 15 80470426 FAH ENSG00000103876.7 2.375E-9 0 25594 gtex_brain_ba24
rs7168949 15 80470457 FAH ENSG00000103876.7 3.959E-9 0 25625 gtex_brain_ba24
rs58626166 15 80471518 FAH ENSG00000103876.7 1.155E-8 0 26686 gtex_brain_ba24
rs71397597 15 80473662 FAH ENSG00000103876.7 1.872E-10 0 28830 gtex_brain_ba24
rs12898575 15 80478262 FAH ENSG00000103876.7 3.425E-9 0 33430 gtex_brain_ba24
rs12898576 15 80478268 FAH ENSG00000103876.7 3.425E-9 0 33436 gtex_brain_ba24
rs200464452 15 80478599 FAH ENSG00000103876.7 2.617E-9 0 33767 gtex_brain_ba24
rs1049194 15 80478645 FAH ENSG00000103876.7 2.617E-9 0 33813 gtex_brain_ba24
rs79203348 15 80478835 FAH ENSG00000103876.7 1.815E-10 0 34003 gtex_brain_ba24
rs75212096 15 80478861 FAH ENSG00000103876.7 2.503E-9 0 34029 gtex_brain_ba24
rs34245126 15 80479116 FAH ENSG00000103876.7 2.392E-9 0 34284 gtex_brain_ba24
rs12904314 15 80479620 FAH ENSG00000103876.7 2.236E-9 0 34788 gtex_brain_ba24
rs12904656 15 80479659 FAH ENSG00000103876.7 2.233E-9 0 34827 gtex_brain_ba24
rs12591328 15 80479884 FAH ENSG00000103876.7 2.215E-9 0 35052 gtex_brain_ba24
rs8041036 15 80481049 FAH ENSG00000103876.7 4.387E-9 0 36217 gtex_brain_ba24
rs1437222 15 80486164 FAH ENSG00000103876.7 5.572E-8 0 41332 gtex_brain_ba24
rs1437221 15 80486402 FAH ENSG00000103876.7 6.532E-9 0 41570 gtex_brain_ba24
rs34392733 15 80486539 FAH ENSG00000103876.7 9.016E-9 0 41707 gtex_brain_ba24
rs34606389 15 80487481 FAH ENSG00000103876.7 4.387E-9 0 42649 gtex_brain_ba24
rs12593705 15 80487626 FAH ENSG00000103876.7 2.137E-9 0 42794 gtex_brain_ba24
rs3087815 15 80487900 FAH ENSG00000103876.7 2.301E-9 0 43068 gtex_brain_ba24
rs12708527 15 80488668 FAH ENSG00000103876.7 4.417E-9 0 43836 gtex_brain_ba24
rs16971828 15 80489013 FAH ENSG00000103876.7 2.154E-9 0 44181 gtex_brain_ba24
rs35376511 15 80489251 FAH ENSG00000103876.7 1.807E-10 0 44419 gtex_brain_ba24
rs7165803 15 80490624 FAH ENSG00000103876.7 3.085E-10 0 45792 gtex_brain_ba24
rs7166331 15 80490766 FAH ENSG00000103876.7 9.309E-11 0 45934 gtex_brain_ba24
rs12593336 15 80491786 FAH ENSG00000103876.7 1.405E-8 0 46954 gtex_brain_ba24
rs71397599 15 80499075 FAH ENSG00000103876.7 4.772E-8 0 54243 gtex_brain_ba24
rs71397600 15 80500149 FAH ENSG00000103876.7 4.772E-8 0 55317 gtex_brain_ba24
rs28692766 15 80500220 FAH ENSG00000103876.7 4.772E-8 0 55388 gtex_brain_ba24
rs34939304 15 80500367 FAH ENSG00000103876.7 4.772E-8 0 55535 gtex_brain_ba24
rs17219447 15 80501242 FAH ENSG00000103876.7 4.772E-8 0 56410 gtex_brain_ba24
rs12898706 15 80501402 FAH ENSG00000103876.7 4.772E-8 0 56570 gtex_brain_ba24
rs71397601 15 80507736 FAH ENSG00000103876.7 4.763E-8 0 62904 gtex_brain_ba24
rs12913384 15 80513833 FAH ENSG00000103876.7 1.421E-6 0 69001 gtex_brain_ba24
rs71397602 15 80514848 FAH ENSG00000103876.7 1.349E-6 0 70016 gtex_brain_ba24
rs12905402 15 80516383 FAH ENSG00000103876.7 1.349E-6 0 71551 gtex_brain_ba24
rs35971717 15 80517610 FAH ENSG00000103876.7 1.005E-6 0 72778 gtex_brain_ba24
rs199614927 15 80517770 FAH ENSG00000103876.7 1.302E-6 0 72938 gtex_brain_ba24
rs71399403 15 80517919 FAH ENSG00000103876.7 1.349E-6 0 73087 gtex_brain_ba24
rs35222819 15 80518506 FAH ENSG00000103876.7 4.851E-8 0 73674 gtex_brain_ba24
rs34765237 15 80520275 FAH ENSG00000103876.7 1.349E-6 0 75443 gtex_brain_ba24
rs80244168 15 80520961 FAH ENSG00000103876.7 1.349E-6 0 76129 gtex_brain_ba24
rs28621634 15 80521264 FAH ENSG00000103876.7 1.414E-6 0 76432 gtex_brain_ba24
rs71399405 15 80533155 FAH ENSG00000103876.7 1.348E-6 0 88323 gtex_brain_ba24
rs34424593 15 80539476 FAH ENSG00000103876.7 1.228E-6 0 94644 gtex_brain_ba24
rs12907596 15 80542852 FAH ENSG00000103876.7 8.184E-8 0 98020 gtex_brain_ba24
rs12903574 15 80551446 FAH ENSG00000103876.7 3.986E-9 0 106614 gtex_brain_ba24
rs12910345 15 80552343 FAH ENSG00000103876.7 3.986E-9 0 107511 gtex_brain_ba24
rs34457632 15 80555024 FAH ENSG00000103876.7 3.986E-9 0 110192 gtex_brain_ba24
rs1370272 15 80557770 FAH ENSG00000103876.7 3.986E-9 0 112938 gtex_brain_ba24
rs117618678 15 80572755 FAH ENSG00000103876.7 5.836E-9 0 127923 gtex_brain_ba24
rs7180132 15 80573960 FAH ENSG00000103876.7 6.484E-8 0 129128 gtex_brain_ba24
rs7174862 15 80588633 FAH ENSG00000103876.7 3.436E-7 0 143801 gtex_brain_ba24

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
LGR6 0.70 0.68
C4orf19 0.70 0.70
PPP1R3G 0.68 0.68
CHST7 0.68 0.57
OAF 0.67 0.66
SFXN5 0.67 0.68
PTH1R 0.66 0.70
ADORA2B 0.66 0.62
AC011427.1 0.65 0.61
NEU4 0.65 0.71
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
POLR3C -0.53 -0.60
ZNF7 -0.52 -0.60
ZNF485 -0.52 -0.62
DYNC1I2 -0.52 -0.63
ZNF433 -0.52 -0.63
TRA2A -0.51 -0.59
EXOSC2 -0.51 -0.56
ZBED5 -0.51 -0.62
ZNF439 -0.51 -0.58
ZNF226 -0.51 -0.64

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0000287 magnesium ion binding 国际能源机构 -
GO:0005509 calcium ion binding 国际能源机构 -
GO:0004334 fumarylacetoacetase activity EXP 8364576
GO:0004334 fumarylacetoacetase activity TAS 1998338
GO:0016787 hydrolase activity 国际能源机构 -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0009072 aromatic amino acid family metabolic process 国际能源机构 -
GO:0006527 arginine catabolic process 国际能源机构 -
GO:0008152 metabolic process 国际能源机构 -
GO:0006559 L-phenylalanine catabolic process 国际能源机构 -
GO:0006572 tyrosine catabolic process TAS 9305902
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005829 cytosol EXP 8364576

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG TYROSINE METABOLISM 42 30 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200 136 All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242 165 All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281 186 All SZGR 2.0 genes in this pathway
DITTMER PTHLH TARGETS DN 73 51 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536 332 All SZGR 2.0 genes in this pathway
GRAESSMANN细胞凋亡的DOXORUBICIN UP 1142 669 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612 367 All SZGR 2.0 genes in this pathway
HU ANGIOGENESIS UP 21 16 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330 217 All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957 597 All SZGR 2.0 genes in this pathway
WEI MIR34A TARGETS 148 97 All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230 156 All SZGR 2.0 genes in this pathway
GOLUB ALL VS AML DN 24 14 All SZGR 2.0 genes in this pathway
MAGRANGEAS MULTIPLE MYELOMA IGG VS IGA UP 22 12 All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS DN 87 69 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
HSIAO LIVER SPECIFIC GENES 244 154 All SZGR 2.0 genes in this pathway
JIANG AGING CEREBRAL CORTEX UP 36 27 All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE UP 244 165 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298 200 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 18HR DN 178 121 All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN 135 88 All SZGR 2.0 genes in this pathway
HEDENFALK BREAST CANCER BRCA1 VS BRCA2 163 113 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS PEAK AT 0HR 63 48 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 6 189 112 All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P4 100 62 All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022 619 All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673 430 All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602 364 All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601 369 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701 446 All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2目标 425 261 All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546 362 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 DN 315 201 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF UP 418 282 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 UP 408 276 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536 296 All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G12 DN 15 11 All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266 180 All SZGR 2.0 genes in this pathway
CAIRO LIVER DEVELOPMENT DN 222 141 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572 352 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137 655 All SZGR 2.0 genes in this pathway
VANLOO SP3 TARGETS DN 89 47 All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 36HR 152 88 All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882 506 All SZGR 2.0 genes in this pathway