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: gnomAD(300) COSMIC(295) PTM(25)
Post translational modifications (PTM) by Type
88%12%10010090908080707060605050404030302020101000
Phosphorylation
Ubiquitination
Download SVG
Download PNG
Download CSV

∙ 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


healinggnomAD
2%66%1%1%29%10010090908080707060605050404030302020101000
Frameshift Variant
Inframe Deletion
Missense Variant
Splice Region Variant
Stop Gained
Stop Retained Variant
Synonymous Variant
Download SVG
Download PNG
Download CSV

placePost-translational Modifications (PTMs)
88%12%10010090908080707060605050404030302020101000
Phosphorylation
Ubiquitination
Download SVG
Download PNG
Download CSV

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
17%36%3%43%10010090908080707060605050404030302020101000
Deletion - Frameshift
Insertion - Frameshift
Substitution - Coding Silent
Substitution - Missense
Substitution - Nonsense
Unknown
Download SVG
Download PNG
Download CSV

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
feedback

Send a feedback about the results.