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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: 17533

FusionGeneSummary for INS-IGF2_COL12A1

check button Fusion gene summary
Fusion gene informationFusion gene name: INS-IGF2_COL12A1
Fusion gene ID: 17533
HgeneTgene
Gene symbol

INS-IGF2

COL12A1

Gene ID

723961

1303

Gene nameINS-IGF2 readthroughcollagen type XII alpha 1 chain
SynonymsINSIGFBA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2
Cytomap

11p15.5

6q13-q14.1

Type of geneprotein-codingprotein-coding
Descriptioninsulin, isoform 2INS-IGF2 readthrough transcript proteininsulin- insulin-like growth factor 2 read-through productcollagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1
Modification date2018052220180523
UniProtAcc

F8WCM5

Q99715

Ensembl transtripts involved in fusion geneENST00000481781, ENST00000397270, 
ENST00000322507, ENST00000345356, 
ENST00000416123, ENST00000483888, 
ENST00000511023, 
Fusion gene scores* DoF score22 X 31 X 1=6827 X 9 X 2=126
# samples 339
** MAII scorelog2(33/682*10)=-1.04730571477836
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/126*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: INS-IGF2 [Title/Abstract] AND COL12A1 [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

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
ChiTaRS3.1BP376743INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
* 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-3CDSENST00000481781ENST00000322507INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000481781ENST00000345356INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000481781ENST00000416123INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000481781ENST00000483888INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-intronENST00000481781ENST00000511023INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000397270ENST00000322507INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000397270ENST00000345356INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000397270ENST00000416123INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-3CDSENST00000397270ENST00000483888INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-
intron-intronENST00000397270ENST00000511023INS-IGF2chr11

2154440

-COL12A1chr6

75912492

-

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FusionProtFeatures for INS-IGF2_COL12A1


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

F8WCM5

COL12A1

Q99715

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with thesurface of the fibrils, and the COL2 and NC3 domains may belocalized in the perifibrillar matrix. {ECO:0000250}.

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 INS-IGF2_COL12A1


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 INS-IGF2_COL12A1


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 INS-IGF2_COL12A1


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 INS-IGF2_COL12A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL12A1C4225313BETHLEM MYOPATHY 22UNIPROT
TgeneCOL12A1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL12A1C0345967Malignant mesothelioma1CTD_human