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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:HMG20B-KLK12 (FusionGDB2 ID:36659)

Fusion Gene Summary for HMG20B-KLK12

check button Fusion gene summary
Fusion gene informationFusion gene name: HMG20B-KLK12
Fusion gene ID: 36659
HgeneTgene
Gene symbol

HMG20B

KLK12

Gene ID

10362

43849

Gene namehigh mobility group 20Bkallikrein related peptidase 12
SynonymsBRAF25|BRAF35|HMGX2|HMGXB2|PP7706|SMARCE1r|SOXL|pp8857KLK-L5|KLKL5
Cytomap

19p13.3

19q13.41

Type of geneprotein-codingprotein-coding
DescriptionSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-relatedBRCA2-associated factor 35HMG box domain containing 2HMG box-containing protein 20BHMG domain-containing protein 2HMG domain-containing protein HMGX2kallikrein-12kallikrein-like protein 5
Modification date2020032720200313
UniProtAcc

Q9P0W2

.
Ensembl transtripts involved in fusion geneENST00000333651, ENST00000585741, 
ENST00000525263, ENST00000319590, 
ENST00000250352, ENST00000529888, 
ENST00000250351, 
Fusion gene scores* DoF score4 X 3 X 4=482 X 2 X 2=8
# samples 42
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: HMG20B [Title/Abstract] AND KLK12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHMG20B(3575658)-KLK12(51534177), # samples:1
Anticipated loss of major functional domain due to fusion event.HMG20B-KLK12 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
HMG20B-KLK12 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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
TgeneKLK12

GO:0006508

proteolysis

21628462


check buttonFusion gene breakpoints across HMG20B (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 KLK12 (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
ChimerDB4OVTCGA-23-2077-01AHMG20Bchr19

3575658

+KLK12chr19

51534177

-


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Fusion Gene ORF analysis for HMG20B-KLK12

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-frameENST00000333651ENST00000525263HMG20Bchr19

3575658

+KLK12chr19

51534177

-
In-frameENST00000333651ENST00000319590HMG20Bchr19

3575658

+KLK12chr19

51534177

-
In-frameENST00000333651ENST00000250352HMG20Bchr19

3575658

+KLK12chr19

51534177

-
Frame-shiftENST00000333651ENST00000529888HMG20Bchr19

3575658

+KLK12chr19

51534177

-
In-frameENST00000333651ENST00000250351HMG20Bchr19

3575658

+KLK12chr19

51534177

-
intron-3CDSENST00000585741ENST00000525263HMG20Bchr19

3575658

+KLK12chr19

51534177

-
intron-3CDSENST00000585741ENST00000319590HMG20Bchr19

3575658

+KLK12chr19

51534177

-
intron-3CDSENST00000585741ENST00000250352HMG20Bchr19

3575658

+KLK12chr19

51534177

-
intron-3CDSENST00000585741ENST00000529888HMG20Bchr19

3575658

+KLK12chr19

51534177

-
intron-3CDSENST00000585741ENST00000250351HMG20Bchr19

3575658

+KLK12chr19

51534177

-

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)
ENST00000333651HMG20Bchr193575658+ENST00000525263KLK12chr1951534177-10475479740325
ENST00000333651HMG20Bchr193575658+ENST00000319590KLK12chr1951534177-10475479740325
ENST00000333651HMG20Bchr193575658+ENST00000250352KLK12chr1951534177-9165478450282
ENST00000333651HMG20Bchr193575658+ENST00000250351KLK12chr1951534177-8555478450282

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
ENST00000333651ENST00000525263HMG20Bchr193575658+KLK12chr1951534177-0.001750040.99824995
ENST00000333651ENST00000319590HMG20Bchr193575658+KLK12chr1951534177-0.001750040.99824995
ENST00000333651ENST00000250352HMG20Bchr193575658+KLK12chr1951534177-0.0033588250.99664116
ENST00000333651ENST00000250351HMG20Bchr193575658+KLK12chr1951534177-0.0022469820.99775296

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Fusion Genomic Features for HMG20B-KLK12


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 HMG20B-KLK12


check button Go to

FGviewer for the breakpoints of chr19:3575658-chr19:51534177

.
- 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
HMG20B

Q9P0W2

.
FUNCTION: Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneHMG20Bchr19:3575658chr19:51534177ENST00000333651+51070_138157.33333333333334318.0DNA bindingHMG box

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHMG20Bchr19:3575658chr19:51534177ENST00000333651+510190_257157.33333333333334318.0Coiled coilOntology_term=ECO:0000255
TgeneKLK12chr19:3575658chr19:51534177ENST000002503513722_246152.33333333333334255.0DomainPeptidase S1
TgeneKLK12chr19:3575658chr19:51534177ENST000003195903622_246152.33333333333334249.0DomainPeptidase S1
TgeneKLK12chr19:3575658chr19:51534177ENST000005252632522_246152.33333333333334249.0DomainPeptidase S1
TgeneKLK12chr19:3575658chr19:51534177ENST000005298882522_24665.66666666666667112.0DomainPeptidase S1


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Fusion Gene Sequence for HMG20B-KLK12


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.
>In-frame_ENST00000333651_ENST00000525263_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(transcript)=1047nt_BP=547nt
GCGGGCGGTTGGTTGGAGCGTCGCGCAGTCGGGAGGTCCGGGAAAGTTTCTTTGGAGGTCCGGCCCGGAGCGGCCATGTCCCACGGCCCC
AAGCAGCCCGGCGCGGCCGCCGCGCCGGCGGGCGGCAAGGCTCCGGGCCAGCATGGGGGCTTCGTGGTGACTGTCAAGCAAGAGCGCGGC
GAGGGTCCACGCGCGGGCGAGAAGGGGTCCCACGAGGAGGAGCCGGTGAAGAAACGCGGCTGGCCCAAGGGCAAGAAGCGGAAGAAGATT
CTGCCGAATGGGCCCAAGGCACCGGTCACGGGCTACGTGCGCTTCCTGAACGAGCGGCGCGAGCAGATCCGCACGCGCCACCCGGATCTG
CCCTTTCCCGAGATCACCAAGATGCTGGGCGCCGAGTGGAGCAAGCTGCAGCCAACGGAAAAGCAGCGGTACCTGGATGAGGCCGAGAGA
GAGAAGCAGCAGTACATGAAGGAGCTGCGGGCGTACCAGCAGTCTGAAGCCTATAAGATGTGCACGGAGAAGATCCAGGAGAAGAAGATC
AAGAAAGACCCATTCCCGGATCTGCTCCAGTGCCTCAACCTCTCCATCGTCTCCCATGCCACCTGCCATGGTGTGTATCCCGGGAGAATC
ACGAGCAACATGGTGTGTGCAGGCGGCGTCCCGGGGCAGGATGCCTGCCAGGGTGATTCTGGGGGCCCCCTGGTGTGTGGGGGAGTCCTT
CAAGGTCTGGTGTCCTGGGGGTCTGTGGGGCCCTGTGGACAAGATGGCATCCCTGGAGTCTACACCTATATTTGCAAGTATGTGGACTGG
ATCCGGATGATCATGAGGAACAACTGACCTGTTTCCTCCACCTCCACCCCCACCCCTTAACTTGGGTACCCCTCTGGCCCTCAGAGCACC
AATATCTCCTCCATCACTTCCCCTAGCTCCACTCTTGTTGGCCTGGGAACTTCTTGGAACTTTAACTCCTGCCAGCCCTTCTAAGACCCA

>In-frame_ENST00000333651_ENST00000525263_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(amino acids)=325AA_start in transcript=974_stop in transcript=0
MAGVKVPRSSQANKSGARGSDGGDIGALRARGVPKLRGGGGGGGNRSVVPHDHPDPVHILANIGVDSRDAILSTGPHRPPGHQTLKDSPT
HQGAPRITLAGILPRDAACTHHVARDSPGIHTMAGGMGDDGEVEALEQIREWVFLDLLLLDLLRAHLIGFRLLVRPQLLHVLLLLSLGLI
QVPLLFRWLQLAPLGAQHLGDLGKGQIRVARADLLAPLVQEAHVARDRCLGPIRQNLLPLLALGPAAFLHRLLLVGPLLARAWTLAALLL

--------------------------------------------------------------
>In-frame_ENST00000333651_ENST00000319590_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(transcript)=1047nt_BP=547nt
GCGGGCGGTTGGTTGGAGCGTCGCGCAGTCGGGAGGTCCGGGAAAGTTTCTTTGGAGGTCCGGCCCGGAGCGGCCATGTCCCACGGCCCC
AAGCAGCCCGGCGCGGCCGCCGCGCCGGCGGGCGGCAAGGCTCCGGGCCAGCATGGGGGCTTCGTGGTGACTGTCAAGCAAGAGCGCGGC
GAGGGTCCACGCGCGGGCGAGAAGGGGTCCCACGAGGAGGAGCCGGTGAAGAAACGCGGCTGGCCCAAGGGCAAGAAGCGGAAGAAGATT
CTGCCGAATGGGCCCAAGGCACCGGTCACGGGCTACGTGCGCTTCCTGAACGAGCGGCGCGAGCAGATCCGCACGCGCCACCCGGATCTG
CCCTTTCCCGAGATCACCAAGATGCTGGGCGCCGAGTGGAGCAAGCTGCAGCCAACGGAAAAGCAGCGGTACCTGGATGAGGCCGAGAGA
GAGAAGCAGCAGTACATGAAGGAGCTGCGGGCGTACCAGCAGTCTGAAGCCTATAAGATGTGCACGGAGAAGATCCAGGAGAAGAAGATC
AAGAAAGACCCATTCCCGGATCTGCTCCAGTGCCTCAACCTCTCCATCGTCTCCCATGCCACCTGCCATGGTGTGTATCCCGGGAGAATC
ACGAGCAACATGGTGTGTGCAGGCGGCGTCCCGGGGCAGGATGCCTGCCAGGGTGATTCTGGGGGCCCCCTGGTGTGTGGGGGAGTCCTT
CAAGGTCTGGTGTCCTGGGGGTCTGTGGGGCCCTGTGGACAAGATGGCATCCCTGGAGTCTACACCTATATTTGCAAGTATGTGGACTGG
ATCCGGATGATCATGAGGAACAACTGACCTGTTTCCTCCACCTCCACCCCCACCCCTTAACTTGGGTACCCCTCTGGCCCTCAGAGCACC
AATATCTCCTCCATCACTTCCCCTAGCTCCACTCTTGTTGGCCTGGGAACTTCTTGGAACTTTAACTCCTGCCAGCCCTTCTAAGACCCA

>In-frame_ENST00000333651_ENST00000319590_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(amino acids)=325AA_start in transcript=974_stop in transcript=0
MAGVKVPRSSQANKSGARGSDGGDIGALRARGVPKLRGGGGGGGNRSVVPHDHPDPVHILANIGVDSRDAILSTGPHRPPGHQTLKDSPT
HQGAPRITLAGILPRDAACTHHVARDSPGIHTMAGGMGDDGEVEALEQIREWVFLDLLLLDLLRAHLIGFRLLVRPQLLHVLLLLSLGLI
QVPLLFRWLQLAPLGAQHLGDLGKGQIRVARADLLAPLVQEAHVARDRCLGPIRQNLLPLLALGPAAFLHRLLLVGPLLARAWTLAALLL

--------------------------------------------------------------
>In-frame_ENST00000333651_ENST00000250352_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(transcript)=916nt_BP=547nt
GCGGGCGGTTGGTTGGAGCGTCGCGCAGTCGGGAGGTCCGGGAAAGTTTCTTTGGAGGTCCGGCCCGGAGCGGCCATGTCCCACGGCCCC
AAGCAGCCCGGCGCGGCCGCCGCGCCGGCGGGCGGCAAGGCTCCGGGCCAGCATGGGGGCTTCGTGGTGACTGTCAAGCAAGAGCGCGGC
GAGGGTCCACGCGCGGGCGAGAAGGGGTCCCACGAGGAGGAGCCGGTGAAGAAACGCGGCTGGCCCAAGGGCAAGAAGCGGAAGAAGATT
CTGCCGAATGGGCCCAAGGCACCGGTCACGGGCTACGTGCGCTTCCTGAACGAGCGGCGCGAGCAGATCCGCACGCGCCACCCGGATCTG
CCCTTTCCCGAGATCACCAAGATGCTGGGCGCCGAGTGGAGCAAGCTGCAGCCAACGGAAAAGCAGCGGTACCTGGATGAGGCCGAGAGA
GAGAAGCAGCAGTACATGAAGGAGCTGCGGGCGTACCAGCAGTCTGAAGCCTATAAGATGTGCACGGAGAAGATCCAGGAGAAGAAGATC
AAGAAAGACCCATTCCCGGATCTGCTCCAGTGCCTCAACCTCTCCATCGTCTCCCATGCCACCTGCCATGGTGTGTATCCCGGGAGAATC
ACGAGCAACATGGTGTGTGCAGGCGGCGTCCCGGGGCAGGATGCCTGCCAGGGTGATTCTGGGGGCCCCCTGGTGTGTGGGGGAGTCCTT
CAAGGTCTGGTGTCCTGGGGGTCTGTGGGGCCCTGTGGACAAGATGGCATCCCTGGAGTCTACACCTATATTTGCAACTCCACTCTTGTT
GGCCTGGGAACTTCTTGGAACTTTAACTCCTGCCAGCCCTTCTAAGACCCACGAGCGGGGTGAGAGAAGTGTGCAATAGTCTGGAATAAA

>In-frame_ENST00000333651_ENST00000250352_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(amino acids)=282AA_start in transcript=845_stop in transcript=0
MAGVKVPRSSQANKSGVANIGVDSRDAILSTGPHRPPGHQTLKDSPTHQGAPRITLAGILPRDAACTHHVARDSPGIHTMAGGMGDDGEV
EALEQIREWVFLDLLLLDLLRAHLIGFRLLVRPQLLHVLLLLSLGLIQVPLLFRWLQLAPLGAQHLGDLGKGQIRVARADLLAPLVQEAH
VARDRCLGPIRQNLLPLLALGPAAFLHRLLLVGPLLARAWTLAALLLDSHHEAPMLARSLAARRRGGRAGLLGAVGHGRSGPDLQRNFPG

--------------------------------------------------------------
>In-frame_ENST00000333651_ENST00000250351_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(transcript)=855nt_BP=547nt
GCGGGCGGTTGGTTGGAGCGTCGCGCAGTCGGGAGGTCCGGGAAAGTTTCTTTGGAGGTCCGGCCCGGAGCGGCCATGTCCCACGGCCCC
AAGCAGCCCGGCGCGGCCGCCGCGCCGGCGGGCGGCAAGGCTCCGGGCCAGCATGGGGGCTTCGTGGTGACTGTCAAGCAAGAGCGCGGC
GAGGGTCCACGCGCGGGCGAGAAGGGGTCCCACGAGGAGGAGCCGGTGAAGAAACGCGGCTGGCCCAAGGGCAAGAAGCGGAAGAAGATT
CTGCCGAATGGGCCCAAGGCACCGGTCACGGGCTACGTGCGCTTCCTGAACGAGCGGCGCGAGCAGATCCGCACGCGCCACCCGGATCTG
CCCTTTCCCGAGATCACCAAGATGCTGGGCGCCGAGTGGAGCAAGCTGCAGCCAACGGAAAAGCAGCGGTACCTGGATGAGGCCGAGAGA
GAGAAGCAGCAGTACATGAAGGAGCTGCGGGCGTACCAGCAGTCTGAAGCCTATAAGATGTGCACGGAGAAGATCCAGGAGAAGAAGATC
AAGAAAGACCCATTCCCGGATCTGCTCCAGTGCCTCAACCTCTCCATCGTCTCCCATGCCACCTGCCATGGTGTGTATCCCGGGAGAATC
ACGAGCAACATGGTGTGTGCAGGCGGCGTCCCGGGGCAGGATGCCTGCCAGGGTGATTCTGGGGGCCCCCTGGTGTGTGGGGGAGTCCTT
CAAGGTCTGGTGTCCTGGGGGTCTGTGGGGCCCTGTGGACAAGATGGCATCCCTGGAGTCTACACCTATATTTGCAACTCCACTCTTGTT

>In-frame_ENST00000333651_ENST00000250351_TCGA-23-2077-01A_HMG20B_chr19_3575658_+_KLK12_chr19_51534177_length(amino acids)=282AA_start in transcript=845_stop in transcript=0
MAGVKVPRSSQANKSGVANIGVDSRDAILSTGPHRPPGHQTLKDSPTHQGAPRITLAGILPRDAACTHHVARDSPGIHTMAGGMGDDGEV
EALEQIREWVFLDLLLLDLLRAHLIGFRLLVRPQLLHVLLLLSLGLIQVPLLFRWLQLAPLGAQHLGDLGKGQIRVARADLLAPLVQEAH
VARDRCLGPIRQNLLPLLALGPAAFLHRLLLVGPLLARAWTLAALLLDSHHEAPMLARSLAARRRGGRAGLLGAVGHGRSGPDLQRNFPG

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Fusion Gene PPI Analysis for HMG20B-KLK12


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 HMG20B-KLK12


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 HMG20B-KLK12


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