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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17177

FusionGeneSummary for IGF2_REG3A

check button Fusion gene summary
Fusion gene informationFusion gene name: IGF2_REG3A
Fusion gene ID: 17177
HgeneTgene
Gene symbol

IGF2

REG3A

Gene ID

3481

5068

Gene nameinsulin like growth factor 2regenerating family member 3 alpha
SynonymsC11orf43|GRDF|IGF-II|PP9974HIP|HIP/PAP|INGAP|PAP|PAP-H|PAP1|PBCGF|REG-III|REG3
Cytomap

11p15.5

2p12

Type of geneprotein-codingprotein-coding
Descriptioninsulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptinregenerating islet-derived protein 3-alphaPAP homologous proteinREG-3-alphahepatocarcinoma-intestine-pancreashepatointestinal pancreatic proteinhuman proislet peptidepancreatic beta cell growth factorpancreatitis-associated protein 1proliferation-
Modification date2018052720180523
UniProtAcc

P01344

Q06141

Ensembl transtripts involved in fusion geneENST00000381395, ENST00000381406, 
ENST00000416167, ENST00000300632, 
ENST00000434045, ENST00000381392, 
ENST00000381389, ENST00000418738, 
ENST00000409839, ENST00000393878, 
ENST00000305165, 
Fusion gene scores* DoF score10 X 5 X 8=4004 X 4 X 2=32
# samples 123
** MAII scorelog2(12/400*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/32*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IGF2 [Title/Abstract] AND REG3A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneIGF2

GO:0008284

positive regulation of cell proliferation

28873464

HgeneIGF2

GO:0042104

positive regulation of activated T cell proliferation

15694994

HgeneIGF2

GO:0043410

positive regulation of MAPK cascade

11500939

HgeneIGF2

GO:0045840

positive regulation of mitotic nuclear division

11500939

HgeneIGF2

GO:0046628

positive regulation of insulin receptor signaling pathway

11500939

HgeneIGF2

GO:0051897

positive regulation of protein kinase B signaling

11500939


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLIHCTCGA-XR-A8TE-01AIGF2chr11

2159991

-REG3Achr2

79384245

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3UTRENST00000381395ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381395ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381395ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381406ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381406ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381406ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000416167ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000416167ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000416167ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000300632ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000300632ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000300632ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000434045ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000434045ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000434045ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381392ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381392ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381392ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381389ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381389ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000381389ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000418738ENST00000409839IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000418738ENST00000393878IGF2chr11

2159991

-REG3Achr2

79384245

-
intron-3UTRENST00000418738ENST00000305165IGF2chr11

2159991

-REG3Achr2

79384245

-

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FusionProtFeatures for IGF2_REG3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IGF2

P01344

REG3A

Q06141

Bactericidal C-type lectin which acts exclusivelyagainst Gram-positive bacteria and mediates bacterial killing bybinding to surface-exposed carbohydrate moieties of peptidoglycan.Regulates keratinocyte proliferation and differentiation afterskin injury via activation of EXTL3-PI3K-AKT signaling pathway.{ECO:0000269|PubMed:16931762}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for IGF2_REG3A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IGF2_REG3A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
IGF2NOV, IGFBP7, IGFBP1, TF, IGFBP3, VTN, IDE, IGFBP6, IGFBP4, IGFBP5, BAG6, NMRK2, FAF1, PCSK4, RBPMSREG3ASDC2, FN1, MDFI, ACTB, ACTA2, ACTBL2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for IGF2_REG3A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IGF2_REG3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGF2C0004903Beckwith-Wiedemann Syndrome2CTD_human
HgeneIGF2C0015934Fetal Growth Retardation2CTD_human;HPO
HgeneIGF2C0036341Schizophrenia2PSYGENET
HgeneIGF2C0206686Adrenocortical carcinoma2CTD_human;HPO
HgeneIGF2C2239176Liver carcinoma2CTD_human;HPO
HgeneIGF2C0000786Spontaneous abortion1CTD_human
HgeneIGF2C0002395Alzheimer's Disease1CTD_human
HgeneIGF2C0002871Anemia1CTD_human
HgeneIGF2C0004153Atherosclerosis1CTD_human
HgeneIGF2C0004352Autistic Disorder1CTD_human
HgeneIGF2C0005941Bone Diseases, Developmental1CTD_human
HgeneIGF2C0009241Cognition Disorders1CTD_human
HgeneIGF2C0009375Colonic Neoplasms1CTD_human
HgeneIGF2C0009404Colorectal Neoplasms1CTD_human
HgeneIGF2C0018273Growth Disorders1CTD_human
HgeneIGF2C0019284Diaphragmatic Hernia1CTD_human
HgeneIGF2C0020224Polyhydramnios1CTD_human
HgeneIGF2C0020615Hypoglycemia1CTD_human
HgeneIGF2C0023903Liver neoplasms1CTD_human
HgeneIGF2C0025261Memory Disorders1CTD_human
HgeneIGF2C0027708Nephroblastoma1CTD_human;HPO
HgeneIGF2C0027746Nerve Degeneration1CTD_human
HgeneIGF2C0028754Obesity1CTD_human
HgeneIGF2C0030567Parkinson Disease1CTD_human
HgeneIGF2C0032045Placenta Disorders1CTD_human
HgeneIGF2C0032927Precancerous Conditions1CTD_human
HgeneIGF2C0035412Rhabdomyosarcoma1CTD_human
HgeneIGF2C0175693Russell-Silver syndrome1CTD_human
HgeneIGF2C0206624Hepatoblastoma1CTD_human;HPO
HgeneIGF2C0678807prenatal alcohol exposure1PSYGENET
HgeneIGF2C0752347Lewy Body Disease1CTD_human