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: gnomAD(75)
gnomAD Variants By Annotation

∙ 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 ENST00000580382 NP_004095


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00107 ADH_zinc_N Zinc-binding dehydrogenase 1672-1809 CL0063 NADP_Rossmann Mus musculus
PF00109 ketoacyl-synt Beta-ketoacyl synthase, N-terminal domain 1-239 CL0046 Thiolase Mus musculus
PF00550 PP-binding Phosphopantetheine attachment site 2119-2186 CL0314 PP-binding Mus musculus
PF00698 Acyl_transf_1 Acyl transferase domain 493-810 CL0323 Patatin Mus musculus
PF00975 Thioesterase Thioesterase domain 2235-2494 CL0028 AB_hydrolase Mus musculus
PF02801 Ketoacyl-synt_C Beta-ketoacyl synthase, C-terminal domain 243-360 CL0046 Thiolase Mus musculus
PF08242 Methyltransf_12 Methyltransferase domain 1238-1337 CL0063 NADP_Rossmann Mus musculus
PF14765 PS-DH Polyketide synthase dehydratase 853-1168 CL0050 HotDog Mus musculus
PF16197 KAsynt_C_assoc Ketoacyl-synthetase C-terminal extension 362-472 CL0046 Thiolase Mus musculus
PF08659 KR KR domain 1878-2058 CL0063 NADP_Rossmann Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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