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(743) gnomAD(868) COSMIC(638) PTM(25)
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 You are here now! ENST00000504875 ENST00000511344 ENST00000515068 ENST00000543093 NP_001275634 You are here now! NP_001336665 You are here now! NP_001362249 You are here now! NP_001362250 NP_005202 You are here now!


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
PF00047 ig Immunoglobulin domain 207-293 CL0011 Ig Homo sapiens
PF13927 Ig_3 Immunoglobulin domain 397-489 CL0011 Ig Homo sapiens
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 582-910 CL0016 PKinase Homo sapiens

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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