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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: 31744

FusionGeneSummary for RPAP1_IGF2

check button Fusion gene summary
Fusion gene informationFusion gene name: RPAP1_IGF2
Fusion gene ID: 31744
HgeneTgene
Gene symbol

RPAP1

IGF2

Gene ID

26015

3481

Gene nameRNA polymerase II associated protein 1insulin like growth factor 2
Synonyms-C11orf43|GRDF|IGF-II|PP9974
Cytomap

15q15.1

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionRNA polymerase II-associated protein 1insulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptin
Modification date2018052320180527
UniProtAcc

Q9BWH6

P01344

Ensembl transtripts involved in fusion geneENST00000561603, ENST00000304330, 
ENST00000568413, 
ENST00000381395, 
ENST00000381406, ENST00000416167, 
ENST00000300632, ENST00000434045, 
ENST00000381392, ENST00000381389, 
ENST00000418738, 
Fusion gene scores* DoF score4 X 4 X 3=4823 X 24 X 8=4416
# samples 420
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/4416*10)=-4.46466826700344
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPAP1 [Title/Abstract] AND IGF2 [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
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 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
ChiTaRS3.1BE299934RPAP1chr15

41829164

-IGF2chr11

2160391

-
* 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-intronENST00000561603ENST00000381395RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000561603ENST00000381406RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-5UTRENST00000561603ENST00000416167RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000561603ENST00000300632RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000561603ENST00000434045RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000561603ENST00000381392RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000561603ENST00000381389RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000561603ENST00000418738RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000381395RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000381406RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-5UTRENST00000304330ENST00000416167RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000300632RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000434045RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000381392RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000381389RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000304330ENST00000418738RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000381395RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000381406RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-5UTRENST00000568413ENST00000416167RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000300632RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000434045RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000381392RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000381389RPAP1chr15

41829164

-IGF2chr11

2160391

-
intron-intronENST00000568413ENST00000418738RPAP1chr15

41829164

-IGF2chr11

2160391

-

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FusionProtFeatures for RPAP1_IGF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPAP1

Q9BWH6

IGF2

P01344

Forms an interface between the RNA polymerase II enzymeand chaperone/scaffolding protein, suggesting that it is requiredto connect RNA polymerase II to regulators of protein complexformation. Required for interaction of the RNA polymerase IIcomplex with acetylated histone H3. {ECO:0000269|PubMed:17643375}.

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 RPAP1_IGF2


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 RPAP1_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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RelatedDrugs for RPAP1_IGF2


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 RPAP1_IGF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIGF2C0004903Beckwith-Wiedemann Syndrome2CTD_human
TgeneIGF2C0015934Fetal Growth Retardation2CTD_human;HPO
TgeneIGF2C0036341Schizophrenia2PSYGENET
TgeneIGF2C0206686Adrenocortical carcinoma2CTD_human;HPO
TgeneIGF2C2239176Liver carcinoma2CTD_human;HPO
TgeneIGF2C0000786Spontaneous abortion1CTD_human
TgeneIGF2C0002395Alzheimer's Disease1CTD_human
TgeneIGF2C0002871Anemia1CTD_human
TgeneIGF2C0004153Atherosclerosis1CTD_human
TgeneIGF2C0004352Autistic Disorder1CTD_human
TgeneIGF2C0005941Bone Diseases, Developmental1CTD_human
TgeneIGF2C0009241Cognition Disorders1CTD_human
TgeneIGF2C0009375Colonic Neoplasms1CTD_human
TgeneIGF2C0009404Colorectal Neoplasms1CTD_human
TgeneIGF2C0018273Growth Disorders1CTD_human
TgeneIGF2C0019284Diaphragmatic Hernia1CTD_human
TgeneIGF2C0020224Polyhydramnios1CTD_human
TgeneIGF2C0020615Hypoglycemia1CTD_human
TgeneIGF2C0023903Liver neoplasms1CTD_human
TgeneIGF2C0025261Memory Disorders1CTD_human
TgeneIGF2C0027708Nephroblastoma1CTD_human;HPO
TgeneIGF2C0027746Nerve Degeneration1CTD_human
TgeneIGF2C0028754Obesity1CTD_human
TgeneIGF2C0030567Parkinson Disease1CTD_human
TgeneIGF2C0032045Placenta Disorders1CTD_human
TgeneIGF2C0032927Precancerous Conditions1CTD_human
TgeneIGF2C0035412Rhabdomyosarcoma1CTD_human
TgeneIGF2C0175693Russell-Silver syndrome1CTD_human
TgeneIGF2C0206624Hepatoblastoma1CTD_human;HPO
TgeneIGF2C0678807prenatal alcohol exposure1PSYGENET
TgeneIGF2C0752347Lewy Body Disease1CTD_human