Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2184
Gene name Gene Name - the full gene name approved by the HGNC.	Fumarylacetoacetate hydrolase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FAH
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]

Show/Hide all(72)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11555096	C>A,T	Other, pathogenic, benign	Missense variant, coding sequence variant, synonymous variant
rs36122289	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80338894	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338895	G>C,T	Pathogenic	Splice acceptor variant
rs80338897	A>T	Pathogenic	Missense variant, coding sequence variant
rs80338898	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338899	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338900	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338901	G>A	Pathogenic	Intron variant
rs121965073	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs121965074	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121965075	G>T	Pathogenic	Coding sequence variant, stop gained
rs121965076	G>T	Pathogenic	Coding sequence variant, stop gained
rs121965077	A>G	Pathogenic	Missense variant, coding sequence variant
rs121965078	A>G	Pathogenic	Missense variant, coding sequence variant
rs138757552	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147016995	C>A,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs149052294	G>A,T	Pathogenic	Splice acceptor variant
rs201051426	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370634385	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs370686447	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs372980573	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377480457	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs533540262	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs750741137	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765134063	C>T	Pathogenic	Stop gained, coding sequence variant
rs768180953	ATGACTGTGAGTGACCGCAGCGTCCA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs769550316	C>T	Pathogenic	Stop gained, coding sequence variant
rs771712041	G>A,C	Likely-pathogenic	Splice acceptor variant
rs772895065	T>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs774648934	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775152764	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778387055	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs779040832	C>T	Pathogenic	Coding sequence variant, missense variant
rs779284513	TCT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs779642226	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781496816	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs786204551	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786204683	G>T	Pathogenic-likely-pathogenic	Splice donor variant
rs886044640	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs970505762	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs980415517	G>A	Pathogenic	Splice donor variant
rs1057516333	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516408	G>A	Likely-pathogenic	Splice donor variant
rs1057516631	T>C,G	Likely-pathogenic	Terminator codon variant, stop lost
rs1057516679	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057516684	ACTTACCAGTGGGCTACCATGGCCGTGCCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516934	T>A	Likely-pathogenic	Initiator codon variant, missense variant
rs1057517084	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517113	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517201	G>A	Likely-pathogenic	Splice donor variant
rs1057517341	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517436	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517972	A>G	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs1247460110	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1297118863	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555440522	A>G	Likely-pathogenic	Splice acceptor variant
rs1555440603	A>G	Likely-pathogenic	Splice acceptor variant
rs1555441251	A>G	Likely-pathogenic	Splice acceptor variant
rs1555441272	TG>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555441597	T>G	Pathogenic-likely-pathogenic	Splice donor variant
rs1555441703	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555441852	->TGGCCCCTGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555441861	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555442289	A>C	Likely-pathogenic	Splice acceptor variant
rs1555442385	A>G	Likely-pathogenic	Splice acceptor variant
rs1567118987	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1595889891	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595890740	T>G	Likely-pathogenic	Splice donor variant
rs1595894742	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595897321	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1595897345	GT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019924	hsa-miR-375	Microarray	20215506
MIRT025492	hsa-miR-34a-5p	Proteomics	21566225
MIRT030485	hsa-miR-24-3p	Microarray	19748357
MIRT048789	hsa-miR-93-5p	CLASH	23622248
MIRT975314	hsa-miR-1305	CLIP-seq
MIRT975315	hsa-miR-3671	CLIP-seq
MIRT975316	hsa-miR-4753-3p	CLIP-seq
MIRT975317	hsa-miR-607	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527323	hsa-miR-1225-3p	CLIP-seq
MIRT2527324	hsa-miR-1233	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2527325	hsa-miR-129-3p	CLIP-seq
MIRT2527326	hsa-miR-1321	CLIP-seq
MIRT2527327	hsa-miR-2278	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2527328	hsa-miR-3180-5p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2527329	hsa-miR-4419a	CLIP-seq
MIRT2527330	hsa-miR-4420	CLIP-seq
MIRT2527331	hsa-miR-4510	CLIP-seq
MIRT2527332	hsa-miR-4650-5p	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2527333	hsa-miR-4704-3p	CLIP-seq
MIRT2527334	hsa-miR-4730	CLIP-seq
MIRT2527335	hsa-miR-4739	CLIP-seq
MIRT2527336	hsa-miR-4751	CLIP-seq
MIRT2527337	hsa-miR-4756-5p	CLIP-seq
MIRT2527338	hsa-miR-4790-3p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2527339	hsa-miR-520a-5p	CLIP-seq
MIRT2527340	hsa-miR-525-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527341	hsa-miR-668	CLIP-seq
MIRT2527323	hsa-miR-1225-3p	CLIP-seq
MIRT2527324	hsa-miR-1233	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2527325	hsa-miR-129-3p	CLIP-seq
MIRT2527326	hsa-miR-1321	CLIP-seq
MIRT2527327	hsa-miR-2278	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2527328	hsa-miR-3180-5p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2680445	hsa-miR-3919	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2527329	hsa-miR-4419a	CLIP-seq
MIRT2527330	hsa-miR-4420	CLIP-seq
MIRT2680446	hsa-miR-4468	CLIP-seq
MIRT2527331	hsa-miR-4510	CLIP-seq
MIRT2527332	hsa-miR-4650-5p	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2527333	hsa-miR-4704-3p	CLIP-seq
MIRT2527334	hsa-miR-4730	CLIP-seq
MIRT2527335	hsa-miR-4739	CLIP-seq
MIRT2527336	hsa-miR-4751	CLIP-seq
MIRT2527337	hsa-miR-4756-5p	CLIP-seq
MIRT2527338	hsa-miR-4790-3p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2527339	hsa-miR-520a-5p	CLIP-seq
MIRT2527340	hsa-miR-525-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527341	hsa-miR-668	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004334	Function	Fumarylacetoacetase activity	IBA
GO:0004334	Function	Fumarylacetoacetase activity	IEA
GO:0004334	Function	Fumarylacetoacetase activity	TAS	1998338
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006527	Process	L-arginine catabolic process	IEA
GO:0006559	Process	L-phenylalanine catabolic process	IBA
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	IBA
GO:0006572	Process	L-tyrosine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	TAS	9305902
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1902000	Process	Homogentisate catabolic process	IBA

MIM	HGNC	e!Ensembl
613871	3579	ENSG00000103876

Protein

UniProt ID

P16930

Protein name

Fumarylacetoacetase (FAA) (EC 3.7.1.2) (Beta-diketonase) (Fumarylacetoacetate hydrolase)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09298	FAA_hydrolase_N	15 → 118	Fumarylacetoacetase N-terminal	Domain
PF01557	FAA_hydrolase	123 → 413	Fumarylacetoacetate (FAA) hydrolase family	Family

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.

Sequence

MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD
VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT
IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM
KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS

Sequence length

419

Interactions

View interactions

	KEGG		Reactome
	Tyrosine metabolism Metabolic pathways		Tyrosine catabolism

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Tyrosinemia	Tyrosinemia type I, Tyrosinemia type II	rs970505762, rs80338898, rs1595889891, rs779642226, rs80338901, rs2041326700, rs1057517972, rs779040832, rs370686447, rs1595897321, rs1057516679, rs1555442385, rs786204683, rs1595890740, rs1057516684 View all (50 more)	N/A
tyrosinemia	Tyrosinemia	rs80338901, rs1057517972	N/A
Beta-Mannosidosis	Beta-D-mannosidosis	rs1057517201	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypertyrosinemia	hypertyrosinemia	N/A	N/A	ClinVar
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	11476670
Carcinoma Hepatocellular	Stimulate	33218190
Carcinoma Hepatocellular	Inhibit	34704422
Carcinoma Ovarian Epithelial	Associate	37890478
Cardiomyopathies	Associate	24016420
Diabetes Mellitus Type 1	Associate	29497141
Fanconi Anemia	Associate	10936108, 9382107
Fatigue Syndrome Chronic	Associate	33669532
Hereditary Sensory and Autonomic Neuropathies	Associate	7568087
Kidney Diseases	Associate	36369907
Kozlowski Tsuruta Taki syndrome	Associate	7568087
Liver Diseases	Associate	24016420
Obesity	Associate	22272336
Sepsis	Associate	24016420
Tyrosinemias	Associate	11476670, 20003495, 24016420, 31300554, 31568711, 33218190, 33882394, 34704422, 36369907, 36463171, 39260601, 7913582, 7929843, 7942842, 7977370, 8028615, 8473520, 8707285 View all (3 more)

FAH (fumarylacetoacetate hydrolase)