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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:PPP1R12C-KISS1 (FusionGDB2 ID:67786)

Fusion Gene Summary for PPP1R12C-KISS1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R12C-KISS1
Fusion gene ID: 67786
HgeneTgene
Gene symbol

PPP1R12C

KISS1

Gene ID

54776

3814

Gene nameprotein phosphatase 1 regulatory subunit 12CKiSS-1 metastasis suppressor
SynonymsAAVS1|LENG3|MBS85|p84|p85HH13|KiSS-1
Cytomap

19q13.42

1q32.1

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1 regulatory subunit 12Cleukocyte receptor cluster (LRC) encoded novel gene 3leukocyte receptor cluster (LRC) member 3myosin-binding subunit 85protein phosphatase 1 myosin-binding subunit of 85 kDaprotein phosphatase 1 myosin-bindmetastasis-suppressor KiSS-1kisspeptin-1malignant melanoma metastasis-suppressormetastinprepro-kisspeptin
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000263433, ENST00000376393, 
ENST00000435544, 
ENST00000367194, 
Fusion gene scores* DoF score23 X 6 X 11=15184 X 3 X 4=48
# samples 244
** MAII scorelog2(24/1518*10)=-2.66106547980695
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPP1R12C [Title/Abstract] AND KISS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPP1R12C(55610152)-KISS1(204159925), # samples:2
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

check buttonFusion gene breakpoints across PPP1R12C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across KISS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BRCATCGA-A7-A6VW-01APPP1R12Cchr19

55610152

-KISS1chr1

204159925

-


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Fusion Gene ORF analysis for PPP1R12C-KISS1

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
In-frameENST00000263433ENST00000367194PPP1R12Cchr19

55610152

-KISS1chr1

204159925

-
In-frameENST00000376393ENST00000367194PPP1R12Cchr19

55610152

-KISS1chr1

204159925

-
In-frameENST00000435544ENST00000367194PPP1R12Cchr19

55610152

-KISS1chr1

204159925

-

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)
ENST00000263433PPP1R12Cchr1955610152-ENST00000367194KISS1chr1204159925-142496716978320
ENST00000376393PPP1R12Cchr1955610152-ENST00000367194KISS1chr1204159925-142496716978320
ENST00000435544PPP1R12Cchr1955610152-ENST00000367194KISS1chr1204159925-131485780868262

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
ENST00000263433ENST00000367194PPP1R12Cchr1955610152-KISS1chr1204159925-0.0098550480.99014497
ENST00000376393ENST00000367194PPP1R12Cchr1955610152-KISS1chr1204159925-0.0098550480.99014497
ENST00000435544ENST00000367194PPP1R12Cchr1955610152-KISS1chr1204159925-0.0108960980.9891039

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Fusion Genomic Features for PPP1R12C-KISS1


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.
genomic feature

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 PPP1R12C-KISS1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:55610152/chr1:204159925)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622100_129317783.0RepeatANK 1
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622133_162317783.0RepeatANK 2
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622226_255317783.0RepeatANK 3
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622259_288317783.0RepeatANK 4
TgeneKISS1chr19:55610152chr1:204159925ENST0000036719413112_12134139.0RegionNote=Essential for receptor binding and receptor activation

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622297_329317783.0Coiled coilOntology_term=ECO:0000255
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622681_782317783.0Coiled coilOntology_term=ECO:0000255
HgenePPP1R12Cchr19:55610152chr1:204159925ENST00000263433-622473_523317783.0Compositional biasPro-rich


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Fusion Gene Sequence for PPP1R12C-KISS1


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.
>67786_67786_1_PPP1R12C-KISS1_PPP1R12C_chr19_55610152_ENST00000263433_KISS1_chr1_204159925_ENST00000367194_length(transcript)=1424nt_BP=967nt
GCGGGCGGGCGGTGCGATGTCCGGAGAGGATGGCCCGGCGGCTGGCCCGGGGGCGGCGGCGGCGGCTGCCCGGGAGCGGCGACGGGAGCA
GCTGCGGCAGTGGGGGGCGCGGGCGGGCGCCGAGCCTGGCCCCGGAGAGCGCCGCGCCCGCACCGTCCGCTTCGAGCGCGCCGCCGAGTT
CCTGGCGGCCTGTGCGGGCGGCGACCTGGACGAGGCGCGTCTGATGCTGCGCGCCGCCGACCCTGGCCCCGGCGCCGAGCTCGACCCCGC
CGCGCCGCCGCCCGCCCGCGCCGTGCTGGACTCCACCAACGCCGACGGTATCAGCGCCCTGCACCAGGCCTGCATTGATGAGAACCTGGA
GGTGGTGCGCTTCTTGGTGGAGCAGGGCGCCACTGTGAACCAGGCAGACAACGAGGGCTGGACGCCACTGCACGTGGCCGCCTCCTGTGG
CTACCTAGATATCGCCAGGTACCTCCTGAGCCACGGGGCCAACATCGCCGCCGTCAACAGTGACGGGGACCTGCCCCTGGACCTGGCCGA
GTCGGACGCCATGGAGGGGCTGCTGAAGGCGGAGATCGCCCGCCGAGGTGTGGATGTGGAAGCAGCCAAGCGGGCAGAAGAGGAATTGCT
CCTTCATGACACGAGGTGCTGGCTGAATGGGGGCGCCATGCCAGAGGCCCGGCACCCCCGCACAGGCGCCTCTGCCCTGCACGTGGCTGC
TGCCAAGGGCTACATTGAGGTGATGAGGTTGCTCCTTCAGGCTGGCTACGACCCAGAGCTCCGGGACGGGGACGGCTGGACTCCCCTGCA
CGCAGCGGCACACTGGGGCGTGGAGGATGCCTGCCGCCTGCTGGCCGAGCATGGCGGGGGCATGGACTCACTGACCCATGCGGGGCAGCG
TCCCTGTGACCTGGCCGATGAGGAAGTACTGAGCCTGTTGGAGGAACTGGCCCGGAAACAGGAGGACGCCAGCAGCTAGAATCCCTGGGC
CTCCTGGCCCCCGGGGAGCAGAGCCTGCCGTGCACCGAGAGGAAGCCAGCTGCTACTGCCAGGCTGAGCCGTCGGGGGACCTCGCTGTCC
CCGCCCCCCGAGAGCTCCGGGAGCCCCCAGCAGCCGGGCCTGTCCGCCCCCCACAGCCGCCAGATCCCCGCACCCCAGGGCGCGGTGCTG
GTGCAGCGGGAGAAGGACCTGCCGAACTACAACTGGAACTCCTTCGGCCTGCGCTTCGGCAAGCGGGAGGCGGCACCAGGGAACCACGGC
AGAAGCGCTGGGCGGGGCTGAGGGCGCAGGTGCGGGGCAGTGAACTTCAGACCCCAAAGGAGTCAGAGCATGCGGGGCGGGGGCGGGGGG

>67786_67786_1_PPP1R12C-KISS1_PPP1R12C_chr19_55610152_ENST00000263433_KISS1_chr1_204159925_ENST00000367194_length(amino acids)=320AA_BP=
MSGEDGPAAGPGAAAAAARERRREQLRQWGARAGAEPGPGERRARTVRFERAAEFLAACAGGDLDEARLMLRAADPGPGAELDPAAPPPA
RAVLDSTNADGISALHQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLDIARYLLSHGANIAAVNSDGDLPLDLAESDAME
GLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKGYIEVMRLLLQAGYDPELRDGDGWTPLHAAAHW

--------------------------------------------------------------
>67786_67786_2_PPP1R12C-KISS1_PPP1R12C_chr19_55610152_ENST00000376393_KISS1_chr1_204159925_ENST00000367194_length(transcript)=1424nt_BP=967nt
GCGGGCGGGCGGTGCGATGTCCGGAGAGGATGGCCCGGCGGCTGGCCCGGGGGCGGCGGCGGCGGCTGCCCGGGAGCGGCGACGGGAGCA
GCTGCGGCAGTGGGGGGCGCGGGCGGGCGCCGAGCCTGGCCCCGGAGAGCGCCGCGCCCGCACCGTCCGCTTCGAGCGCGCCGCCGAGTT
CCTGGCGGCCTGTGCGGGCGGCGACCTGGACGAGGCGCGTCTGATGCTGCGCGCCGCCGACCCTGGCCCCGGCGCCGAGCTCGACCCCGC
CGCGCCGCCGCCCGCCCGCGCCGTGCTGGACTCCACCAACGCCGACGGTATCAGCGCCCTGCACCAGGCCTGCATTGATGAGAACCTGGA
GGTGGTGCGCTTCTTGGTGGAGCAGGGCGCCACTGTGAACCAGGCAGACAACGAGGGCTGGACGCCACTGCACGTGGCCGCCTCCTGTGG
CTACCTAGATATCGCCAGGTACCTCCTGAGCCACGGGGCCAACATCGCCGCCGTCAACAGTGACGGGGACCTGCCCCTGGACCTGGCCGA
GTCGGACGCCATGGAGGGGCTGCTGAAGGCGGAGATCGCCCGCCGAGGTGTGGATGTGGAAGCAGCCAAGCGGGCAGAAGAGGAATTGCT
CCTTCATGACACGAGGTGCTGGCTGAATGGGGGCGCCATGCCAGAGGCCCGGCACCCCCGCACAGGCGCCTCTGCCCTGCACGTGGCTGC
TGCCAAGGGCTACATTGAGGTGATGAGGTTGCTCCTTCAGGCTGGCTACGACCCAGAGCTCCGGGACGGGGACGGCTGGACTCCCCTGCA
CGCAGCGGCACACTGGGGCGTGGAGGATGCCTGCCGCCTGCTGGCCGAGCATGGCGGGGGCATGGACTCACTGACCCATGCGGGGCAGCG
TCCCTGTGACCTGGCCGATGAGGAAGTACTGAGCCTGTTGGAGGAACTGGCCCGGAAACAGGAGGACGCCAGCAGCTAGAATCCCTGGGC
CTCCTGGCCCCCGGGGAGCAGAGCCTGCCGTGCACCGAGAGGAAGCCAGCTGCTACTGCCAGGCTGAGCCGTCGGGGGACCTCGCTGTCC
CCGCCCCCCGAGAGCTCCGGGAGCCCCCAGCAGCCGGGCCTGTCCGCCCCCCACAGCCGCCAGATCCCCGCACCCCAGGGCGCGGTGCTG
GTGCAGCGGGAGAAGGACCTGCCGAACTACAACTGGAACTCCTTCGGCCTGCGCTTCGGCAAGCGGGAGGCGGCACCAGGGAACCACGGC
AGAAGCGCTGGGCGGGGCTGAGGGCGCAGGTGCGGGGCAGTGAACTTCAGACCCCAAAGGAGTCAGAGCATGCGGGGCGGGGGCGGGGGG

>67786_67786_2_PPP1R12C-KISS1_PPP1R12C_chr19_55610152_ENST00000376393_KISS1_chr1_204159925_ENST00000367194_length(amino acids)=320AA_BP=
MSGEDGPAAGPGAAAAAARERRREQLRQWGARAGAEPGPGERRARTVRFERAAEFLAACAGGDLDEARLMLRAADPGPGAELDPAAPPPA
RAVLDSTNADGISALHQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLDIARYLLSHGANIAAVNSDGDLPLDLAESDAME
GLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKGYIEVMRLLLQAGYDPELRDGDGWTPLHAAAHW

--------------------------------------------------------------
>67786_67786_3_PPP1R12C-KISS1_PPP1R12C_chr19_55610152_ENST00000435544_KISS1_chr1_204159925_ENST00000367194_length(transcript)=1314nt_BP=857nt
ACTCCTTCCTCAGCTCCAGTTCAGGTCCCGGAGCCCACCCAGTGTCCACAAGGCCTGGGGCAAGTCCCTCCTCCGACCCCCTGGACTTCG
GCTTTTGTCCCCCCAAGTTTTGGACCCCTAAGGGAAGAATGAGAAACGGTGGCCCGTGTCAGCCCCTGGCTGCAGGGCCCCGTGCAGAGG
GGGCCTCAGTGAACTGGAGTGTGACAGCCTGGGGCCCAGGCACACAGGCCTGCATTGATGAGAACCTGGAGGTGGTGCGCTTCTTGGTGG
AGCAGGGCGCCACTGTGAACCAGGCAGACAACGAGGGCTGGACGCCACTGCACGTGGCCGCCTCCTGTGGCTACCTAGATATCGCCAGGT
ACCTCCTGAGCCACGGGGCCAACATCGCCGCCGTCAACAGTGACGGGGACCTGCCCCTGGACCTGGCCGAGTCGGACGCCATGGAGGGGC
TGCTGAAGGCGGAGATCGCCCGCCGAGGTGTGGATGTGGAAGCAGCCAAGCGGGCAGAAGAGGAATTGCTCCTTCATGACACGAGGTGCT
GGCTGAATGGGGGCGCCATGCCAGAGGCCCGGCACCCCCGCACAGGCGCCTCTGCCCTGCACGTGGCTGCTGCCAAGGGCTACATTGAGG
TGATGAGGTTGCTCCTTCAGGCTGGCTACGACCCAGAGCTCCGGGACGGGGACGGCTGGACTCCCCTGCACGCAGCGGCACACTGGGGCG
TGGAGGATGCCTGCCGCCTGCTGGCCGAGCATGGCGGGGGCATGGACTCACTGACCCATGCGGGGCAGCGTCCCTGTGACCTGGCCGATG
AGGAAGTACTGAGCCTGTTGGAGGAACTGGCCCGGAAACAGGAGGACGCCAGCAGCTAGAATCCCTGGGCCTCCTGGCCCCCGGGGAGCA
GAGCCTGCCGTGCACCGAGAGGAAGCCAGCTGCTACTGCCAGGCTGAGCCGTCGGGGGACCTCGCTGTCCCCGCCCCCCGAGAGCTCCGG
GAGCCCCCAGCAGCCGGGCCTGTCCGCCCCCCACAGCCGCCAGATCCCCGCACCCCAGGGCGCGGTGCTGGTGCAGCGGGAGAAGGACCT
GCCGAACTACAACTGGAACTCCTTCGGCCTGCGCTTCGGCAAGCGGGAGGCGGCACCAGGGAACCACGGCAGAAGCGCTGGGCGGGGCTG
AGGGCGCAGGTGCGGGGCAGTGAACTTCAGACCCCAAAGGAGTCAGAGCATGCGGGGCGGGGGCGGGGGGCGGGGACGTAGGGCTAAGGG

>67786_67786_3_PPP1R12C-KISS1_PPP1R12C_chr19_55610152_ENST00000435544_KISS1_chr1_204159925_ENST00000367194_length(amino acids)=262AA_BP=
MDFGFCPPKFWTPKGRMRNGGPCQPLAAGPRAEGASVNWSVTAWGPGTQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLD
IARYLLSHGANIAAVNSDGDLPLDLAESDAMEGLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKG

--------------------------------------------------------------

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Fusion Gene PPI Analysis for PPP1R12C-KISS1


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 PPP1R12C-KISS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PPP1R12C-KISS1


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