The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple ... See more...

Aliases for IGF1 Gene

Aliases for IGF1 Gene

  • Insulin Like Growth Factor 1 2 3 5
  • Insulin-Like Growth Factor 1 (Somatomedin C) 2 3
  • Insulin-Like Growth Factor I 3 4
  • Mechano Growth Factor 3 4
  • Somatomedin-C 3 4
  • IGF-I 3 4
  • MGF 3 4
  • Insulin-Like Growth Factor IB 3
  • Somatomedin C 2
  • IGFI 3
  • IBP1 4
  • IGF 3

External Ids for IGF1 Gene

Previous GeneCards Identifiers for IGF1 Gene

  • GC12M101888
  • GC12M102748
  • GC12M101292
  • GC12M099849

Summaries for IGF1 Gene

Entrez Gene Summary for IGF1 Gene

  • The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

GeneCards Summary for IGF1 Gene

IGF1 (Insulin Like Growth Factor 1) is a Protein Coding gene. Diseases associated with IGF1 include Insulin-Like Growth Factor I and Acid-Labile Subunit Deficiency. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Development IGF-1 receptor signaling. Gene Ontology (GO) annotations related to this gene include growth factor activity and integrin binding. An important paralog of this gene is IGF2.

UniProtKB/Swiss-Prot Summary for IGF1 Gene

  • The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity). Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiatiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:19578119, PubMed:22351760, PubMed:23696648, PubMed:23243309).

Tocris Summary for IGF1 Gene

  • Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular tyrosine kinase activity. IR homodimers are activated by insulin.

Gene Wiki entry for IGF1 Gene

Additional gene information for IGF1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGF1 Gene

Genomics for IGF1 Gene

GeneHancer (GH) Regulatory Elements for IGF1 Gene

Promoters and enhancers for IGF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J102478 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +1.8 1848 4.7 CTCF SMARCE1 ETV6 RAD21 DACH1 TEAD4 SP1 NKRF MAFK MLLT1 IGF1 lnc-PMCH-5
GH12J101929 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +545.5 545498 12.7 ZNF24 SP1 CTCF POLR2A CC2D1A ETV6 RELA RAD21 MLLT1 SP7 RPL9P24 lnc-PARPBP-8 PARPBP GNPTAB WASHC3 IGF1 RNA5SP369 RNU6-101P SYCP3 DRAM1
GH12J102454 Enhancer 1 Ensembl ENCODE dbSUPER 11.9 +26.5 26455 1.3 FOXA1 HLF RAD21 SP1 CEBPG ZNF644 CEBPA FOXA2 CEBPB JUND lnc-PARPBP-10 lnc-PARPBP-9 IGF1 lnc-PMCH-5 LINC02456
GH12J102436 Enhancer 1 Ensembl ENCODE dbSUPER 11.3 +43.4 43423 4.3 CC2D1A L3MBTL2 BACH1 CEBPG IKZF1 ATF1 HDAC1 EP300 MGA CTBP1 ENSG00000257222 WASHC3 IGF1 lnc-PARPBP-9 lnc-PMCH-4 LINC02456
GH12J102429 Enhancer 0.9 ENCODE dbSUPER 10.8 +51.9 51896 0.3 CC2D1A L3MBTL2 DACH1 ZNF148 ZFX MLLT1 BACH1 SMARCA4 ZNF639 IKZF1 IGF1 lnc-PMCH-4 lnc-PARPBP-9 LINC02456
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGF1 gene promoter:
  • C/EBPbeta
  • SRF
  • SRF (504 AA)
  • STAT5A
  • STAT5B

Genomic Locations for IGF1 Gene

Genomic Locations for IGF1 Gene
chr12:102,395,867-102,481,786
(GRCh38/hg38)
Size:
85,920 bases
Orientation:
Minus strand
chr12:102,789,645-102,874,423
(GRCh37/hg19)
Size:
84,779 bases
Orientation:
Minus strand

Genomic View for IGF1 Gene

Genes around IGF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGF1 Gene

Proteins for IGF1 Gene

  • Protein details for IGF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05019-IGF1_HUMAN
    Recommended name:
    Insulin-like growth factor I
    Protein Accession:
    P05019
    Secondary Accessions:
    • B2RWM7
    • E9PD02
    • P01343
    • Q14620

    Protein attributes for IGF1 Gene

    Size:
    195 amino acids
    Molecular mass:
    21841 Da
    Quaternary structure:
    • Forms a ternary complex with IGFR1 and ITGAV:ITGB3 (PubMed:19578119). Forms a ternary complex with IGFR1 and ITGA6:ITGB4 (PubMed:22351760, PubMed:23696648).
    SequenceCaution:
    • Sequence=CAA27250.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGF1 Gene

    Alternative splice isoforms for IGF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGF1 Gene

Post-translational modifications for IGF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for IGF1

Protein Products

No data available for DME Specific Peptides for IGF1 Gene

Domains & Families for IGF1 Gene

Gene Families for IGF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for IGF1 Gene

GenScript: Design optimal peptide antigens:
  • Somatomedin-C (IGF1_HUMAN)
  • Insulin-like growth factor-I (Q13429_HUMAN)
  • Insulin-like growth factor 1 (Somatomedin C), isoform CRA_d (Q5U743_HUMAN)
  • Insulin-like growth factor-I (Q6LD41_HUMAN)
  • IGF1 protein (Q9NP10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05019

UniProtKB/Swiss-Prot:

IGF1_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with IGF1: view

Function for IGF1 Gene

Molecular function for IGF1 Gene

UniProtKB/Swiss-Prot Function:
The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity). Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiatiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:19578119, PubMed:22351760, PubMed:23696648, PubMed:23243309).
GENATLAS Biochemistry:
insulin-like growth factor 1,expressed in liver,regulator of somatic growth and cellular proliferation,inducer of the phosphatidylinositol 3-kinase survival pathway through activation of AKT1,AKT2,inhibited by TNF in its neuroprotective role,also inducer of calcineurin mediated signaling and activation of GATA2,associated with intrauterine growth retardation and severe short stature in a patient carrying a homozygous deletion of IGF1

LifeMap Function Summary for IGF1 Gene

IGF1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for IGF1 Gene

Gene Ontology (GO) - Molecular Function for IGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005158 insulin receptor binding IPI 8452530
GO:0005159 insulin-like growth factor receptor binding IPI 8452530
GO:0005178 integrin binding IDA 19578119
GO:0005179 hormone activity IDA 7188854
GO:0005515 protein binding IPI 8452530
genes like me logo Genes that share ontologies with IGF1: view
genes like me logo Genes that share phenotypes with IGF1: view

Human Phenotype Ontology for IGF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGF1 Gene

MGI Knock Outs for IGF1:

Animal Model Products

CRISPR Products

miRNA for IGF1 Gene

miRTarBase miRNAs that target IGF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IGF1 Gene

Localization for IGF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGF1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGF1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 7188854
GO:0016942 insulin-like growth factor binding protein complex IC 10766744
GO:0031093 platelet alpha granule lumen TAS --
GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex IDA 19578119
genes like me logo Genes that share ontologies with IGF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IGF1 Gene

Pathways & Interactions for IGF1 Gene

PathCards logo

SuperPathways for IGF1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with IGF1: view

SIGNOR curated interactions for IGF1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for IGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IMP 22351760
GO:0001501 skeletal system development TAS 10448861
GO:0001775 cell activation IDA 22797923
GO:0002576 platelet degranulation TAS --
GO:0007165 signal transduction TAS 10448861
genes like me logo Genes that share ontologies with IGF1: view

Drugs & Compounds for IGF1 Gene

(108) Drugs for IGF1 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma 108
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 2109
Magnesium oxide Approved Pharma 88
N,N-Bis(3-(D-gluconamido)propyl)deoxycholamide Experimental Pharma Target 0
N-Dodecyl-N,N-Dimethyl-3-Ammonio-1-Propanesulfonate Experimental Pharma Target 0

(43) Additional Compounds for IGF1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GSK 1838705
1116235-97-2
Insulin (human) recombinant
11061-68-0
Picropodophyllotoxin
477-47-4

(5) Tocris Compounds for IGF1 Gene

Compound Action Cas Number
Demethylasterriquinone B1 Selective insulin RTK activator 78860-34-1
GSK 1838705 Potent IR and IGF1R inhibitor; also inhibits anaplastic lymphoma kinase (ALK) 1116235-97-2
Insulin (human) recombinant Endogenous peptide agonist 11061-68-0
Picropodophyllotoxin Selective IGF1R inhibitor 477-47-4
PQ 401 IGF1R inhibitor 196868-63-0

(3) ApexBio Compounds for IGF1 Gene

Compound Action Cas Number
Demethylasterriquinone B1 78860-34-1
HNGF6A 1093111-54-6
Insulin (human) recombinant expressed in yeast peptide hormone 11061-68-0
genes like me logo Genes that share compounds with IGF1: view

Transcripts for IGF1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGF1 Gene

No ASD Table

Relevant External Links for IGF1 Gene

GeneLoc Exon Structure for
IGF1
ECgene alternative splicing isoforms for
IGF1

Expression for IGF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGF1 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.2).

Protein differential expression in normal tissues from HIPED for IGF1 Gene

This gene is overexpressed in Serum (25.5), Plasma (19.7), Skin (16.2), and Synovial fluid (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGF1 Gene



Protein tissue co-expression partners for IGF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IGF1 Gene:

IGF1

SOURCE GeneReport for Unigene cluster for IGF1 Gene:

Hs.160562

Evidence on tissue expression from TISSUES for IGF1 Gene

  • Liver(4.8)
  • Nervous system(4.7)
  • Muscle(3.7)
  • Blood(3.4)
  • Heart(3.3)
  • Bone(3.2)
  • Intestine(3.2)
  • Thyroid gland(3.1)
  • Kidney(2.9)
  • Adrenal gland(2.7)
  • Skin(2.6)
  • Lung(2.5)
  • Bone marrow(2.4)
  • Eye(2.3)
  • Pancreas(2.3)
  • Spleen(2.2)
  • Gall bladder(2.1)
  • Stomach(2.1)
  • Urine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGF1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IGF1: view

No data available for mRNA Expression by UniProt/SwissProt for IGF1 Gene

Orthologs for IGF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGF1 33 32
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IGF1 33 32
  • 93.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IGF1 32
  • 93.46 (n)
IGF-I 33
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igf1 17 33 32
  • 88.67 (n)
rat
(Rattus norvegicus)
Mammalia Igf1 32
  • 88.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IGF1 33
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGF1 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGF1 33 32
  • 80.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGF1 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486334 32
  • 77.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia igf1-A 32
zebrafish
(Danio rerio)
Actinopterygii igf1 33 32 32
  • 67.36 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11904 32
Species where no ortholog for IGF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGF1 Gene

ENSEMBL:
Gene Tree for IGF1 (if available)
TreeFam:
Gene Tree for IGF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGF1: view image

Paralogs for IGF1 Gene

Paralogs for IGF1 Gene

(3) SIMAP similar genes for IGF1 Gene using alignment to 6 proteins:

  • IGF1_HUMAN
  • L8E8N9_HUMAN
  • L8EC78_HUMAN
  • Q5U743_HUMAN
  • Q6LD41_HUMAN
  • Q9NP10_HUMAN
genes like me logo Genes that share paralogs with IGF1: view

Variants for IGF1 Gene

Sequence variations from dbSNP and Humsavar for IGF1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1063599 uncertain-significance, Insulin-like growth factor I deficiency 102,398,791(-) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1140655 benign, Insulin-like growth factor I deficiency 102,397,002(-) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs117058953 uncertain-significance, Insulin-like growth factor I deficiency 102,398,955(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs121912430 pathogenic, Insulin-like growth factor I deficiency 102,419,637(-) C/T coding_sequence_variant, missense_variant
rs149540080 uncertain-significance, Insulin-like growth factor I deficiency 102,402,402(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IGF1 Gene

Variant ID Type Subtype PubMed ID
esv2663083 CNV deletion 23128226
esv3309220 CNV mobile element insertion 20981092
esv3445771 CNV insertion 20981092
esv3630590 CNV loss 21293372
esv3630591 CNV loss 21293372
nsv560034 CNV loss 21841781
nsv560035 CNV loss 21841781
nsv819617 CNV gain 19587683
nsv832498 CNV gain 17160897
nsv832499 CNV gain 17160897

Variation tolerance for IGF1 Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGF1 Gene

Human Gene Mutation Database (HGMD)
IGF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGF1 Gene

Disorders for IGF1 Gene

MalaCards: The human disease database

(147) MalaCards diseases for IGF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards