CSF1R (GeneID: 1436) | Homo sapiens
Description: colony stimulating factor 1 receptor [Source:HGNC Symbol;Acc:HGNC:2433]
Synonyms: FMS, CSFR, C-FMS, FIM2, CSF-1R, M-CSF-R, DLS, CD115
Other ID(s): ENSG00000182578, HGNC:2433
Protein Accession Numbers: ENST00000515068, ENST00000286301.3, NP_001362250, NP_001275634, ENST00000511344, ENST00000286301, NP_001362249, ENST00000543093, ENST00000504875, NP_005202, NP_001336665
Statistics: ClinVar(157)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000286301 ENST00000504875 ENST00000511344 ENST00000515068 ENST00000543093 NP_001275634 NP_001336665 NP_001362249 NP_001362250 NP_005202


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
NO DOMAINS EXIST

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 ; 0.508 0.655
Malignant Neoplasms Neoplasms ; 0.508 0.655
Leukemia, Myelocytic, Acute Neoplasms ; 0.508 0.655
Leukodystrophy N/A 0.508 0.655
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.508 0.655
Acute Myeloid Leukemia, M1 Neoplasms ; 0.508 0.655
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.508 0.655
Neoplasms Neoplasms ; 0.508 0.655
Parkinson Disease Nervous System Diseases ; 0.508 0.655
Benign Neoplasm Neoplasms ; 0.508 0.655
Squamous cell carcinoma of lung N/A 0.508 0.655
Leukoencephalopathies Nervous System Diseases ; 0.508 0.655
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.508 0.655
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.508 0.655
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.508 0.655
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.508 0.655
Childhood Ataxia with Central Nervous System Hypomyelinization Nervous System Diseases ; 0.508 0.655
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.508 0.655
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.508 0.655
Hereditary Diffuse Leukoencephalopathy with Spheroids Nervous System Diseases ; 0.508 0.655
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.508 0.655
NO RESULT FOUND
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