ConVarT

ClinVar Data

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

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
17-80037019-C-T	ENST00000306749	p.Ter2512Ter	Stop Retained Variant	0	0	0	rs747201373
17-80037028-C-T	ENST00000306749	p.Arg2509Arg	Synonymous Variant	0	0	0	rs777122905
17-80037029-C-T	ENST00000306749	p.Arg2509Gln	Missense Variant	0	0	0	rs759790350
17-80037030-G-A	ENST00000306749	p.Arg2509Trp	Missense Variant	0	0	0	rs1375536316
17-80037031-C-G	ENST00000306749	p.Val2508Val	Synonymous Variant	0	0	0	rs917285771
17-80037034-G-A	ENST00000306749	p.Ser2507Ser	Synonymous Variant	0	0	0	rs765784168
17-80037034-G-GCT	ENST00000306749	p.Ser2507ArgfsTer34	Frameshift Variant	0	0	0	rs765784168	lc_lof
17-80037039-C-T	ENST00000306749	p.Val2506Met	Missense Variant	0	0	0	rs766210377
17-80037040-G-A	ENST00000306749	p.Arg2505Arg	Synonymous Variant	0	0	0	rs1140624
17-80037041-C-T	ENST00000306749	p.Arg2505His	Missense Variant	1	31334	0.000032	rs139709268
17-80037042-G-A	ENST00000306749	p.Arg2505Cys	Missense Variant	1	31348	0.000032	rs1450345536
17-80037049-A-G	ENST00000306749	p.Ala2502Ala	Synonymous Variant	0	0	0	rs766946878
17-80037052-C-G	ENST00000306749	p.Leu2501Leu	Synonymous Variant	0	0	0	rs1292112826
17-80037055-G-A	ENST00000306749	p.Ser2500Ser	Synonymous Variant	0	0	0	rs750057391
17-80037058-G-A	ENST00000306749	p.Ser2499Ser	Synonymous Variant	8	31342	0.000255	rs149770125
17-80037061-G-A	ENST00000306749	p.His2498His	Synonymous Variant	1	31352	0.000032	rs1382804903
17-80037064-G-T	ENST00000306749	p.Ile2497Ile	Synonymous Variant	4	31350	0.000128	rs146832319
17-80037071-C-CTGA	ENST00000306749	p.Ile2494dup	Inframe Insertion	0	0	0	rs1470156372
17-80037072-T-A	ENST00000306749	p.Ser2495Cys	Missense Variant	0	0	0	rs1182946458
17-80037088-G-A	ENST00000306749	p.Gly2489Gly	Synonymous Variant	0	0	0	rs1383269772

Showing 1 to 20 of 2,832 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
FASN	P49327	Phosphorylation	1028	S1028-p	LWKDNWVsFMDtMLQ	273.43	27930800
FASN	P49327	Phosphorylation	1032	T1032-p	NWVsFMDtMLQMSIL	273.43	27930801
FASN	P49327	Phosphorylation	1047	Y1047-p	GSAKHGLyLPTRVTA	273.43	475197
FASN	P49327	Ubiquitination	1065	K1065-ub	DPATHRQkLyTLQDk	273.43	21174652
FASN	P49327	Phosphorylation	1067	Y1067-p	ATHRQkLyTLQDkAQ	273.43	55372761
FASN	P49327	Ubiquitination	1072	K1072-ub	kLyTLQDkAQVADVV	273.43	12249149
FASN	P49327	Acetylation	1072	K1072-ac	kLyTLQDkAQVADVV	273.43	33363556
FASN	P49327	Phosphorylation	1081	S1081-p	QVADVVVsRWLRVTV	273.43	31877602
FASN	P49327	Ubiquitination	1116	K1116-ub	QQVPILEkFCFtPHT	273.43	15388589
FASN	P49327	Acetylation	1116	K1116-ac	QQVPILEkFCFtPHT	273.43	461617
FASN	P49327	Phosphorylation	1120	T1120-p	ILEkFCFtPHTEEGC	273.43	56654787
FASN	P49327	Ubiquitination	1142	K1142-ub	QEELQLCkGLVQALQ	273.43	10842629
FASN	P49327	Ubiquitination	1151	K1151-ub	LVQALQTkVTQQGLk	273.43	11947654
FASN	P49327	Acetylation	1151	K1151-ac	LVQALQTkVTQQGLk	273.43	15294363
FASN	P49327	Ubiquitination	1158	K1158-ub	kVTQQGLkMVVPGLD	273.43	12246511
FASN	P49327	Phosphorylation	1174	S1174-p	AQIPRDPsQQELPRL	273.43	3925086
FASN	P49327	Phosphorylation	1183	S1183-p	QELPRLLsAACRLQL	273.43	31084664
FASN	P49327	Sumoylation	12	K12-sm	VIAGMSGkLPESENL	273.43	610813988
FASN	P49327	Ubiquitination	1208	K1208-ub	VLAQERPkLPEDPLL	273.43	610815980
FASN	P49327	Phosphorylation	1216	S1216-p	LPEDPLLsGLLDsPA	273.43	55372765

Showing 1 to 20 of 188 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
FASN	ENST00000306749	TCGA-CN-A640-01	upper_aerodigestive_tract	carcinoma	24493911	c.452G>A	p.R151K	Substitution - Missense		.5269	Confirmed somatic variant	PMID: N/A	primary	151
FASN	ENST00000306749	TCGA-BQ-5890-01	kidney	carcinoma	24497306	c.718C>T	p.R240W	Substitution - Missense	PATHOGENIC	.79045	Confirmed somatic variant	PMID: N/A	NS	240
FASN	ENST00000306749	GCYC_396_T	stomach	carcinoma	24501086	c.2077C>A	p.P693T	Substitution - Missense		.60941	Confirmed somatic variant	PMID: N/A	primary	693
FASN	ENST00000306749	TCGA-GF-A2C7-01	skin	malignant_melanoma	24496195	c.3438G>T	p.Q1146H	Substitution - Missense	PATHOGENIC	.81728	Confirmed somatic variant	PMID: N/A	NS	1146
FASN	ENST00000306749	TCGA-GF-A2C7-01	skin	malignant_melanoma	24496189	c.5208G>T	p.T1736=	Substitution - coding silent	NEUTRAL	.35251	Confirmed somatic variant	PMID: N/A	NS	1736
FASN	ENST00000306749	HCC72T	liver	carcinoma	24493840	c.2196C>G	p.A732=	Substitution - coding silent		.5025	Reported in another cancer sample as somatic	PMID: N/A	primary	732
FASN	ENST00000306749	FFPE-4	pancreas	carcinoma	24499014	c.1181G>T	p.G394V	Substitution - Missense	PATHOGENIC	.99826	Confirmed somatic variant	PMID: 29109526	primary	394
FASN	ENST00000306749	BD54T	biliary_tract	carcinoma	24493155	c.5239T>G	p.S1747A	Substitution - Missense	PATHOGENIC	.99796	Confirmed somatic variant	PMID: N/A	primary	1747
FASN	ENST00000306749	YUZINO	skin	malignant_melanoma	24499496	c.4618G>A	p.D1540N	Substitution - Missense	PATHOGENIC	.97412	Confirmed somatic variant	PMID: 22842228	metastasis	1540
FASN	ENST00000306749	HCC1897	lung	carcinoma	24500406	c.5695G>T	p.E1899*	Substitution - Nonsense	PATHOGENIC	.99336	Variant of unknown origin	PMID: 29681454	NS	1899
FASN	ENST00000306749	MOLT-4	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	24492737	c.6127C>T	p.R2043C	Substitution - Missense	PATHOGENIC	.99443	Confirmed somatic variant	PMID: 23856246	primary	2043
FASN	ENST00000306749	MOLT-4	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	24497965	c.6080G>A	p.G2027D	Substitution - Missense	PATHOGENIC	.99304	Confirmed somatic variant	PMID: 23856246	primary	2027
FASN	ENST00000306749	TCGA-97-8176-01	lung	carcinoma	24496999	c.191T>C	p.F64S	Substitution - Missense	PATHOGENIC	.9563	Confirmed somatic variant	PMID: N/A	primary	64
FASN	ENST00000306749	TCGA-GN-A264-06	skin	malignant_melanoma	24491155	c.3496G>T	p.G1166W	Substitution - Missense	PATHOGENIC	.82132	Confirmed somatic variant	PMID: N/A	NS	1166
FASN	ENST00000306749	W10T	thyroid	carcinoma	24499450	c.167A>G	p.D56G	Substitution - Missense	PATHOGENIC	.96544	Confirmed somatic variant	PMID: N/A	primary	56
FASN	ENST00000306749	2014_Lung_sq_100_T	lung	carcinoma	24493731	c.6402C>T	p.I2134=	Substitution - coding silent	PATHOGENIC	.95981	Confirmed somatic variant	PMID: N/A	primary	2134
FASN	ENST00000306749	W10T	thyroid	carcinoma	24499439	c.6794G>A	p.S2265N	Substitution - Missense	PATHOGENIC	.96524	Confirmed somatic variant	PMID: N/A	primary	2265
FASN	ENST00000306749	W10T	thyroid	carcinoma	24493366	c.6562C>T	p.Q2188*	Substitution - Nonsense	PATHOGENIC	.99547	Confirmed somatic variant	PMID: N/A	primary	2188
FASN	ENST00000306749	MOLT-4	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	24497997	c.2477G>A	p.G826E	Substitution - Missense	PATHOGENIC	.99609	Confirmed somatic variant	PMID: 23856246	primary	826
FASN	ENST00000306749	HCA7	large_intestine	carcinoma	24496330	c.4126G>A	p.A1376T	Substitution - Missense	PATHOGENIC	.89229	Reported in another cancer sample as somatic	PMID: 24755471	NS	1376

Showing 1 to 20 of 668 entries

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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

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)

Classification of Clinicial Significance of ClinVar Data