ConVarT

FASN (GeneID: 2194) | Homo sapiens

Description:	fatty acid synthase [Source:HGNC Symbol;Acc:HGNC:3594]
Synonyms:	FAS, SDR27X1, OA-519
Other ID(s):	ENSG00000169710, HGNC:3594
Protein Accession Numbers:	ENST00000306749.2, NP_004095, ENST00000306749, ENST00000580382
Statistics:	ClinVar(909) gnomAD(2832) COSMIC(668) PTM(188)

ClinVar Pathogenicity of Variations

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000306749 You are here now! ENST00000580382 NP_004095 You are here now!

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00107	ADH_zinc_N	Zinc-binding dehydrogenase	1679-1816	CL0063	NADP_Rossmann	Homo sapiens
PF00109	ketoacyl-synt	Beta-ketoacyl synthase, N-terminal domain	1-239	CL0046	Thiolase	Homo sapiens
PF00550	PP-binding	Phosphopantetheine attachment site	2125-2192	CL0314	PP-binding	Homo sapiens
PF00698	Acyl_transf_1	Acyl transferase domain	493-810	CL0323	Patatin	Homo sapiens
PF00975	Thioesterase	Thioesterase domain	2242-2501	CL0028	AB_hydrolase	Homo sapiens
PF02801	Ketoacyl-synt_C	Beta-ketoacyl synthase, C-terminal domain	243-360	CL0046	Thiolase	Homo sapiens
PF08242	Methyltransf_12	Methyltransferase domain	1243-1342	CL0063	NADP_Rossmann	Homo sapiens
PF14765	PS-DH	Polyketide synthase dehydratase	865-1108	CL0050	HotDog	Homo sapiens
PF16197	KAsynt_C_assoc	Ketoacyl-synthetase C-terminal extension	362-472	CL0046	Thiolase	Homo sapiens
PF08659	KR	KR domain	1885-2065	CL0063	NADP_Rossmann	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.516	0.793
Malignant Neoplasms	Neoplasms ;	0.516	0.793
Cardiomyopathy, Dilated	Cardiovascular Diseases ;	0.516	0.793
Hypertrophic Cardiomyopathy	Cardiovascular Diseases ;	0.516	0.793
Heart failure	Cardiovascular Diseases ;	0.516	0.793
Congestive heart failure	Cardiovascular Diseases ;	0.516	0.793
Hepatitis, Toxic	Digestive System Diseases ; Chemically-Induced Disorders ;	0.516	0.793
Profound Mental Retardation	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.516	0.793
Kidney Failure, Chronic	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.516	0.793
Left-Sided Heart Failure	Cardiovascular Diseases ;	0.516	0.793
liposarcoma	Neoplasms ;	0.516	0.793
melanoma	Neoplasms ;	0.516	0.793
Mental Retardation, Psychosocial	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.516	0.793
Neoplasms	Neoplasms ;	0.516	0.793
Obesity	Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ;	0.516	0.793
Depressive Symptoms	Behavior and Behavior Mechanisms ;	0.516	0.793
Benign Neoplasm	Neoplasms ;	0.516	0.793
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.516	0.793
Liposarcoma, Dedifferentiated	Neoplasms ;	0.516	0.793
Liposarcoma, Pleomorphic	Neoplasms ;	0.516	0.793
Heart Failure, Right-Sided	Cardiovascular Diseases ;	0.516	0.793
Squamous cell carcinoma of esophagus	Neoplasms ; Digestive System Diseases ;	0.516	0.793
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.516	0.793
Drug-Induced Liver Disease	Digestive System Diseases ; Chemically-Induced Disorders ;	0.516	0.793
Mental deficiency	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.516	0.793
ovarian neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.516	0.793
Acute Coronary Syndrome	Cardiovascular Diseases ;	0.516	0.793
Malignant neoplasm of ovary	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.516	0.793
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.516	0.793
Hepatitis, Drug-Induced	Digestive System Diseases ; Chemically-Induced Disorders ;	0.516	0.793
Cardiomyopathy, Familial Idiopathic	Cardiovascular Diseases ;	0.516	0.793
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.516	0.793
Myocardial Failure	Cardiovascular Diseases ;	0.516	0.793
Heart Decompensation	Cardiovascular Diseases ;	0.516	0.793
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.516	0.793
Drug-Induced Acute Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.516	0.793
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.516	0.793
Chemical and Drug Induced Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.516	0.793
Chemically-Induced Liver Toxicity	Digestive System Diseases ; Chemically-Induced Disorders ;	0.516	0.793
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data