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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: 17566

FusionGeneSummary for INTS12_PPA2

check button Fusion gene summary
Fusion gene informationFusion gene name: INTS12_PPA2
Fusion gene ID: 17566
HgeneTgene
Gene symbol

INTS12

PPA2

Gene ID

57117

27068

Gene nameintegrator complex subunit 12pyrophosphatase (inorganic) 2
SynonymsINT12|PHF22|SBBI22HSPC124|SCFAI|SCFI|SID6-306
Cytomap

4q24

4q24

Type of geneprotein-codingprotein-coding
Descriptionintegrator complex subunit 12PHD finger protein 22hypothetical nuclear factor SBBI22inorganic pyrophosphatase 2, mitochondrialPPase 2pyrophosphatase SID6-306pyrophosphate phospho-hydrolase 2
Modification date2018051920180523
UniProtAcc

Q96CB8

Q9H2U2

Ensembl transtripts involved in fusion geneENST00000394735, ENST00000340139, 
ENST00000451321, 
ENST00000341695, 
ENST00000348706, ENST00000432483, 
ENST00000354147, ENST00000380004, 
ENST00000357415, ENST00000509426, 
ENST00000310267, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: INTS12 [Title/Abstract] AND PPA2 [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
HgeneINTS12

GO:0016180

snRNA processing

16239144


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
TCGALDSTADTCGA-CD-A487-01AINTS12chr4

106629795

-PPA2chr4

106377902

-
* 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-3CDSENST00000394735ENST00000341695INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-3CDSENST00000394735ENST00000348706INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-3CDSENST00000394735ENST00000432483INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-intronENST00000394735ENST00000354147INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-intronENST00000394735ENST00000380004INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-intronENST00000394735ENST00000357415INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-5UTRENST00000394735ENST00000509426INTS12chr4

106629795

-PPA2chr4

106377902

-
intron-intronENST00000394735ENST00000310267INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-3CDSENST00000340139ENST00000341695INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-3CDSENST00000340139ENST00000348706INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-3CDSENST00000340139ENST00000432483INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000340139ENST00000354147INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000340139ENST00000380004INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000340139ENST00000357415INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-5UTRENST00000340139ENST00000509426INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000340139ENST00000310267INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-3CDSENST00000451321ENST00000341695INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-3CDSENST00000451321ENST00000348706INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-3CDSENST00000451321ENST00000432483INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000451321ENST00000354147INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000451321ENST00000380004INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000451321ENST00000357415INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-5UTRENST00000451321ENST00000509426INTS12chr4

106629795

-PPA2chr4

106377902

-
5UTR-intronENST00000451321ENST00000310267INTS12chr4

106629795

-PPA2chr4

106377902

-

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FusionProtFeatures for INTS12_PPA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
INTS12

Q96CB8

PPA2

Q9H2U2

Component of the Integrator complex, a complex involvedin the small nuclear RNAs (snRNA) U1 and U2 transcription and intheir 3'-box-dependent processing. The Integrator complex isassociated with the C-terminal domain (CTD) of RNA polymerase IIlargest subunit (POLR2A) and is recruited to the U1 and U2 snRNAsgenes (PubMed:16239144). Mediates recruitment of cytoplasmicdynein to the nuclear envelope, probably as component of the INTcomplex (PubMed:23904267). {ECO:0000269|PubMed:16239144,ECO:0000269|PubMed:23904267}.

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 INTS12_PPA2


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 INTS12_PPA2


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
INTS12INTS1, INTS3, INTS5, INTS6, INTS10, APP, POLR2C, BSG, TAS2R7, KIR2DS2, SLAMF1, ST8SIA1, TGOLN2, ALDH3A2, PPP2CA, PPP2CB, PPP2R1A, VWA9, NELFA, FOXJ2, USP37, APLNR, IL13RA2, EDNRB, ILVBL, ARL13A, MAS1, F2RL1, FZD10, ST6GAL1, DKKL1, KDELR3, GTF2IRD1PPA2VKORC1, BAG3, MTIF2, HIST1H1D, ACSF2, CLUH, ACADVL, ACSS1, GLS, PNPT1, CLPP, PCCB, NNT, ARPIN, LYRM7, NIPSNAP3A, MECR, PDPR, CAT, CD2AP, DUT, HIBCH, NEDD8, AIP, CHCHD2, EZR, FKBP14, METTL1, NAV1, PLIN3, UFM1, PPP1R11, SCPEP1, TANGO2, COMT, ZWINT, DUSP13, SYNC, NDUFAF5


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 INTS12_PPA2


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 INTS12_PPA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource