IGF1R (GeneID: 3480) | Homo sapiens
Description: insulin like growth factor 1 receptor [Source:HGNC Symbol;Acc:HGNC:5465]
Synonyms: JTK13, CD221, IGFR, IGFIR
Other ID(s): HGNC:5465, ENSG00000140443
Protein Accession Numbers: ENST00000268035, ENST00000560972, ENST00000558762, NP_001278787, ENST00000560144, ENST00000558355, NP_000866, ENST00000558898
Statistics: gnomAD(79)
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.
ENST00000268035 ENST00000558355 ENST00000558762 ENST00000558898 ENST00000560144 ENST00000560972 NP_000866 NP_001278787


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
PF00757 Furin-like Furin-like cysteine rich region 175-333 CL0547 GF_recep_C-rich Mus musculus
PF01030 Recep_L_domain Receptor L domain 353-467 CL0022 LRR Mus musculus
PF01030 Recep_L_domain Receptor L domain 51-161 CL0022 LRR Mus musculus
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 1000-1268 CL0016 PKinase Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Malignant neoplasm of skin Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Neoplastic Cell Transformation Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Endometrial Neoplasms Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.433 0.828
Fetal Growth Retardation Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Growth Disorders Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Lung diseases Respiratory Tract Diseases ; 0.433 0.828
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.433 0.828
Parkinson Disease Nervous System Diseases ; 0.433 0.828
Peripheral Neuropathy Nervous System Diseases ; 0.433 0.828
Respiratory Insufficiency Respiratory Tract Diseases ; 0.433 0.828
Skin Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Juvenile-Onset Still Disease Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.433 0.828
Squamous cell carcinoma of lung N/A 0.433 0.828
Russell-Silver syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.433 0.828
Adrenocortical carcinoma Neoplasms ; Endocrine System Diseases ; 0.433 0.828
Respiratory Depression Respiratory Tract Diseases ; 0.433 0.828
Congenital diaphragmatic hernia Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Congenital hernia of foramen of Morgagni Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Congenital hernia of foramen of Bochdalek Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Primary microcephaly N/A 0.433 0.828
Endometrial Carcinoma Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.433 0.828
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Lewy Body Disease Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Respiratory Failure Respiratory Tract Diseases ; 0.433 0.828
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Resistance to Insulin-Like Growth Factor I Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.433 0.828
Juvenile arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.433 0.828
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.433 0.828
Juvenile psoriatic arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.433 0.828
NO RESULT FOUND
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