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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CHGB-IGF2 (FusionGDB2 ID:16484)

Fusion Gene Summary for CHGB-IGF2

check button Fusion gene summary
Fusion gene informationFusion gene name: CHGB-IGF2
Fusion gene ID: 16484
HgeneTgene
Gene symbol

CHGB

IGF2

Gene ID

1114

3481

Gene namechromogranin Binsulin like growth factor 2
SynonymsSCG1C11orf43|GRDF|IGF-II|PP9974
Cytomap

20p12.3

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionsecretogranin-1cgBsecretogranin Bsecretogranin IsgIinsulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptin
Modification date2020031320200322
UniProtAcc

P05060

P11717

Ensembl transtripts involved in fusion geneENST00000378961, ENST00000488832, 
ENST00000381395, ENST00000381406, 
ENST00000416167, ENST00000300632, 
ENST00000434045, ENST00000381392, 
ENST00000381389, ENST00000418738, 
Fusion gene scores* DoF score8 X 7 X 2=11250 X 61 X 13=39650
# samples 937
** MAII scorelog2(9/112*10)=-0.315501825727929
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(37/39650*10)=-6.74365178496239
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointCHGB(5903719)-IGF2(2154895), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneIGF2

GO:0008284

positive regulation of cell proliferation

28873464

TgeneIGF2

GO:0042104

positive regulation of activated T cell proliferation

15694994

TgeneIGF2

GO:0043410

positive regulation of MAPK cascade

11500939

TgeneIGF2

GO:0045840

positive regulation of mitotic nuclear division

11500939

TgeneIGF2

GO:0046628

positive regulation of insulin receptor signaling pathway

11500939

TgeneIGF2

GO:0051897

positive regulation of protein kinase B signaling

11500939


check buttonFusion gene breakpoints across CHGB (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across IGF2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PCPGTCGA-QR-A6GW-01ACHGBchr20

5903719

-IGF2chr11

2154895

-
ChimerDB4PCPGTCGA-S7-A7X2-01ACHGBchr20

5903719

-IGF2chr11

2154895

-
ChimerDB4PCPGTCGA-WB-A819-01ACHGBchr20

5903719

-IGF2chr11

2154895

-


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Fusion Gene ORF analysis for CHGB-IGF2

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
Frame-shiftENST00000378961ENST00000381395CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000381406CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000416167CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000300632CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000434045CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000381392CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000381389CHGBchr20

5903719

-IGF2chr11

2154895

-
Frame-shiftENST00000378961ENST00000418738CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000381395CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000381406CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000416167CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000300632CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000434045CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000381392CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000381389CHGBchr20

5903719

-IGF2chr11

2154895

-
intron-3CDSENST00000488832ENST00000418738CHGBchr20

5903719

-IGF2chr11

2154895

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CHGB-IGF2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CHGB-IGF2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P05060

IGF2

P11717

FUNCTION: Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides.FUNCTION: Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005). {ECO:0000269|PubMed:10900005, ECO:0000269|PubMed:18046459, ECO:0000269|PubMed:18817523, ECO:0000269|PubMed:2963003}.

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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Fusion Gene Sequence for CHGB-IGF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CHGB-IGF2


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


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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Related Drugs for CHGB-IGF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIGF2P11717DB14751Mecasermin rinfabateBiotechApproved
TgeneIGF2P11717DB14751Mecasermin rinfabateBiotechApproved
TgeneIGF2P11717DB01277MecaserminBiotechApproved|Investigational
TgeneIGF2P11717DB01277MecaserminBiotechApproved|Investigational
TgeneIGF2P11717DB13173Cerliponase alfaLigandBiotechApproved|Investigational
TgeneIGF2P11717DB13173Cerliponase alfaLigandBiotechApproved|Investigational

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Related Diseases for CHGB-IGF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHGBC0036341Schizophrenia3PSYGENET
HgeneCHGBC0221765Chronic schizophrenia1PSYGENET
TgeneIGF2C0004903Beckwith-Wiedemann Syndrome4CTD_human;GENOMICS_ENGLAND
TgeneIGF2C0015934Fetal Growth Retardation3CTD_human;GENOMICS_ENGLAND
TgeneIGF2C0036341Schizophrenia2PSYGENET
TgeneIGF2C0175693Russell-Silver syndrome2CTD_human;GENOMICS_ENGLAND
TgeneIGF2C0206686Adrenocortical carcinoma2CTD_human
TgeneIGF2C2239176Liver carcinoma2CTD_human
TgeneIGF2C0000786Spontaneous abortion1CTD_human
TgeneIGF2C0000822Abortion, Tubal1CTD_human
TgeneIGF2C0002395Alzheimer's Disease1CTD_human
TgeneIGF2C0002871Anemia1CTD_human
TgeneIGF2C0004153Atherosclerosis1CTD_human
TgeneIGF2C0004352Autistic Disorder1CTD_human
TgeneIGF2C0005941Bone Diseases, Developmental1CTD_human
TgeneIGF2C0007102Malignant tumor of colon1CTD_human
TgeneIGF2C0009241Cognition Disorders1CTD_human
TgeneIGF2C0009375Colonic Neoplasms1CTD_human
TgeneIGF2C0009402Colorectal Carcinoma1CTD_human
TgeneIGF2C0009404Colorectal Neoplasms1CTD_human
TgeneIGF2C0011265Presenile dementia1CTD_human
TgeneIGF2C0018273Growth Disorders1CTD_human
TgeneIGF2C0019284Diaphragmatic Hernia1CTD_human
TgeneIGF2C0020224Polyhydramnios1CTD_human
TgeneIGF2C0020615Hypoglycemia1CTD_human
TgeneIGF2C0023903Liver neoplasms1CTD_human
TgeneIGF2C0025261Memory Disorders1CTD_human
TgeneIGF2C0027708Nephroblastoma1CTD_human
TgeneIGF2C0027746Nerve Degeneration1CTD_human
TgeneIGF2C0028754Obesity1CTD_human
TgeneIGF2C0030567Parkinson Disease1CTD_human
TgeneIGF2C0032045Placenta Disorders1CTD_human
TgeneIGF2C0032927Precancerous Conditions1CTD_human
TgeneIGF2C0035412Rhabdomyosarcoma1CTD_human
TgeneIGF2C0206624Hepatoblastoma1CTD_human
TgeneIGF2C0233794Memory impairment1CTD_human
TgeneIGF2C0271708Fasting Hypoglycemia1CTD_human
TgeneIGF2C0271710Reactive hypoglycemia1CTD_human
TgeneIGF2C0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneIGF2C0282313Condition, Preneoplastic1CTD_human
TgeneIGF2C0332890Congenital hemihypertrophy1ORPHANET
TgeneIGF2C0345904Malignant neoplasm of liver1CTD_human
TgeneIGF2C0473935Radiolabeled somatostatin analog study1GENOMICS_ENGLAND
TgeneIGF2C0494463Alzheimer Disease, Late Onset1CTD_human
TgeneIGF2C0546126Acute Confusional Senile Dementia1CTD_human
TgeneIGF2C0678807prenatal alcohol exposure1PSYGENET
TgeneIGF2C0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneIGF2C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneIGF2C0751292Age-Related Memory Disorders1CTD_human
TgeneIGF2C0751293Memory Disorder, Semantic1CTD_human
TgeneIGF2C0751294Memory Disorder, Spatial1CTD_human
TgeneIGF2C0751295Memory Loss1CTD_human
TgeneIGF2C0752347Lewy Body Disease1CTD_human
TgeneIGF2C0796160MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE1GENOMICS_ENGLAND
TgeneIGF2C1563937Atherogenesis1CTD_human
TgeneIGF2C1855652Fetus Small for Gestational Age1GENOMICS_ENGLAND
TgeneIGF2C1856184HEMIHYPERPLASIA, ISOLATED1ORPHANET
TgeneIGF2C2930471Bilateral Wilms Tumor1CTD_human
TgeneIGF2C3830362Early Pregnancy Loss1CTD_human
TgeneIGF2C4225307GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES1CTD_human;GENOMICS_ENGLAND
TgeneIGF2C4552766Miscarriage1CTD_human