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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for FAH |
Basic gene info. | Gene symbol | FAH |
Gene name | fumarylacetoacetate hydrolase (fumarylacetoacetase) | |
Synonyms | - | |
Cytomap | UCSC genome browser: 15q25.1 | |
Genomic location | chr15 :80445232-80478924 | |
Type of gene | protein-coding | |
RefGenes | NM_000137.2, | |
Ensembl id | ENSG00000103876 | |
Description | FAAbeta-diketonasefumarylacetoacetase | |
Modification date | 20141222 | |
dbXrefs | MIM : 613871 | |
HGNC : HGNC | ||
Ensembl : ENSG00000103876 | ||
HPRD : 02040 | ||
Vega : OTTHUMG00000144187 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FAH | |
BioGPS: 2184 | ||
Gene Expression Atlas: ENSG00000103876 | ||
The Human Protein Atlas: ENSG00000103876 | ||
Pathway | NCI Pathway Interaction Database: FAH | |
KEGG: FAH | ||
REACTOME: FAH | ||
ConsensusPathDB | ||
Pathway Commons: FAH | ||
Metabolism | MetaCyc: FAH | |
HUMANCyc: FAH | ||
Regulation | Ensembl's Regulation: ENSG00000103876 | |
miRBase: chr15 :80,445,232-80,478,924 | ||
TargetScan: NM_000137 | ||
cisRED: ENSG00000103876 | ||
Context | iHOP: FAH | |
cancer metabolism search in PubMed: FAH | ||
UCL Cancer Institute: FAH | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for FAH(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: FAH |
Familial Cancer Database: FAH |
* This gene is included in those cancer gene databases. |
. | ||||||||||||||||||||
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
KEGG_TYROSINE_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: FAH |
MedGen: FAH (Human Medical Genetics with Condition) | |
ClinVar: FAH | |
Phenotype | MGI: FAH (International Mouse Phenotyping Consortium) |
PhenomicDB: FAH |
Mutations for FAH |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows FAH related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BU734913 | CRYBB2 | 19 | 180 | 22 | 25627675 | 25627836 | FAH | 176 | 468 | 15 | 80464543 | 80469916 | |
BU956000 | MIR548N | 1 | 215 | 2 | 179315154 | 179315368 | FAH | 215 | 840 | 15 | 80460620 | 80473502 | |
CN263730 | TPM2 | 1 | 498 | 9 | 35682676 | 35683173 | FAH | 491 | 628 | 15 | 80450444 | 80452166 | |
BU955820 | MIR548N | 39 | 255 | 2 | 179315154 | 179315370 | FAH | 255 | 875 | 15 | 80460620 | 80473494 | |
BU856741 | MIR548N | 1 | 215 | 2 | 179315154 | 179315368 | FAH | 215 | 712 | 15 | 80460620 | 80472564 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=23) | (# total SNVs=13) |
(# total SNVs=0) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr15:80467429-80467429 | p.L303L | 3 |
chr15:80454663-80454663 | p.A147V | 3 |
chr15:80454614-80454614 | p.R131W | 2 |
chr15:80450394-80450394 | p.? | 2 |
chr15:80465390-80465390 | p.L247L | 2 |
chr15:80478545-80478545 | p.P418P | 2 |
chr15:80450470-80450470 | p.F50F | 2 |
chr15:80452769-80452769 | p.A111G | 2 |
chr15:80452784-80452784 | p.H116R | 1 |
chr15:80473405-80473405 | p.M362V | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 2 | 2 |   | 7 |   |   | 1 |   | 1 |   |   | 4 | 3 |   |   | 1 | 7 | 5 |   | 5 |
# mutation | 2 | 2 |   | 7 |   |   | 1 |   | 1 |   |   | 5 | 3 |   |   | 1 | 7 | 5 |   | 5 |
nonsynonymous SNV |   | 1 |   | 4 |   |   | 1 |   |   |   |   | 2 |   |   |   |   | 4 | 4 |   | 5 |
synonymous SNV | 2 | 1 |   | 3 |   |   |   |   | 1 |   |   | 3 | 3 |   |   | 1 | 3 | 1 |   |   |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr15:80454614 | p.A147V | 2 |
chr15:80454663 | p.R131W | 2 |
chr15:80460616 | p.V137V | 1 |
chr15:80469898 | p.L299L | 1 |
chr15:80452147 | p.A311A | 1 |
chr15:80464562 | p.I173I | 1 |
chr15:80469907 | p.I314M | 1 |
chr15:80452206 | p.R175R | 1 |
chr15:80465390 | p.L345L | 1 |
chr15:80472540 | p.G33S | 1 |
Other DBs for Point Mutations |
Copy Number for FAH in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for FAH |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
ACAA1,ACY1,BLVRB,CCDC57,CYB561D2,CYB5A,DCXR, DHRS4,DHRS4L2,FAH,GAMT,MFSD7,MMAB,MPV17L, REEP6,SDSL,SIL1,SPINK8,TTC36,UQCRQ,ZFAND6 | ABHD15,ACO1,ACOT1,AOC3,AQP7,BOK,CIDEC, DGAT1,ESYT1,FAH,GPD1,GYG2,HEPACAM,HEPN1, LIPE,MARC1,PLA2G16,PLIN1,PNPLA2,RBP4,TYRO3 | ||||
HYKK,ATIC,BCS1L,CCNE1,CHCHD6,DKC1,FAH, HDAC8,HSD17B10,LAGE3,NAA10,NECAB3,PDHA1,RBBP7, SCML1,SLC22A12,SLC5A6,TIMM17B,TIMM8A,TOMM34,UTP14A | AKR1A1,C9orf41,CA9,DDC,DEGS2,DHRS4L2,FAH, GCHFR,GPR89A,HACL1,NPY6R,OTC,PEBP1,PNPO, SHMT1,SLC16A10,SLC25A15,SLC2A9,TMEM41A,TMEM52,ZDHHC9 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for FAH |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00143 | fumarylacetoacetate hydrolase (fumarylacetoacetase) | approved; nutraceutical | Glutathione | ||
DB00120 | fumarylacetoacetate hydrolase (fumarylacetoacetase) | approved; nutraceutical | L-Phenylalanine | ||
DB00135 | fumarylacetoacetate hydrolase (fumarylacetoacetase) | approved; nutraceutical | L-Tyrosine | ||
DB00360 | fumarylacetoacetate hydrolase (fumarylacetoacetase) | approved; investigational | Tetrahydrobiopterin |
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Cross referenced IDs for FAH |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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