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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:HOXB3-TCF12

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HOXB3-TCF12
FusionPDB ID: 37433
FusionGDB2.0 ID: 37433
HgeneTgene
Gene symbol

HOXB3

TCF12

Gene ID

3213

6938

Gene namehomeobox B3transcription factor 12
SynonymsHOX2|HOX2G|Hox-2.7CRS3|HEB|HTF4|HsT17266|TCF-12|bHLHb20|p64
Cytomap

17q21.32

15q21.3

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein Hox-B3homeo box 2Ghomeobox protein Hox-2.7homeobox protein Hox-2Gtranscription factor 12DNA-binding protein HTF4E-box-binding proteinclass B basic helix-loop-helix protein 20helix-loop-helix transcription factor 4transcription factor HTF-4
Modification date2020031320200313
UniProtAcc

P14651

.
Ensembl transtripts involved in fusion geneENST idsENST00000465120, ENST00000490677, 
ENST00000311626, ENST00000460160, 
ENST00000485909, ENST00000489475, 
ENST00000498678, ENST00000470495, 
ENST00000472863, ENST00000476342, 
ENST00000552000, 
ENST00000343827, 
ENST00000537840, ENST00000543579, 
ENST00000560764, ENST00000559703, 
ENST00000559710, ENST00000267811, 
ENST00000333725, ENST00000438423, 
ENST00000452095, ENST00000557843, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 6 X 6=32421 X 22 X 8=3696
# samples 1026
** MAII scorelog2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/3696*10)=-3.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HOXB3 [Title/Abstract] AND TCF12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HOXB3(46651199)-TCF12(57523350), # samples:2
Anticipated loss of major functional domain due to fusion event.HOXB3-TCF12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
HOXB3-TCF12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
HOXB3-TCF12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
HOXB3-TCF12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
HOXB3-TCF12 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
HOXB3-TCF12 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
HOXB3-TCF12 seems lost the major protein functional domain in Tgene partner, which is a transcription 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
HgeneHOXB3

GO:0045944

positive regulation of transcription by RNA polymerase II

9556594

TgeneTCF12

GO:0045944

positive regulation of transcription by RNA polymerase II

11802795


check buttonFusion gene breakpoints across HOXB3 (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 TCF12 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4UCECTCGA-BK-A139-02AHOXB3chr17

46651199

-TCF12chr15

57523350

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000490677HOXB3chr1746651199-ENST00000438423TCF12chr1557523350+40981871421728528
ENST00000490677HOXB3chr1746651199-ENST00000267811TCF12chr1557523350+53651871421656504
ENST00000490677HOXB3chr1746651199-ENST00000452095TCF12chr1557523350+40981871421728528
ENST00000490677HOXB3chr1746651199-ENST00000333725TCF12chr1557523350+40921871421728528
ENST00000490677HOXB3chr1746651199-ENST00000557843TCF12chr1557523350+35971871421656504

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
ENST00000490677ENST00000438423HOXB3chr1746651199-TCF12chr1557523350+0.000855260.9991447
ENST00000490677ENST00000267811HOXB3chr1746651199-TCF12chr1557523350+0.0003216070.9996784
ENST00000490677ENST00000452095HOXB3chr1746651199-TCF12chr1557523350+0.000855260.9991447
ENST00000490677ENST00000333725HOXB3chr1746651199-TCF12chr1557523350+0.000864220.9991358
ENST00000490677ENST00000557843HOXB3chr1746651199-TCF12chr1557523350+0.001071370.9989286

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>37433_37433_1_HOXB3-TCF12_HOXB3_chr17_46651199_ENST00000490677_TCF12_chr15_57523350_ENST00000267811_length(amino acids)=504AA_BP=14
MGSAEFGREEARGAKVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGN
LHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPS
NPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVGPSTSLPAGHSDIHSLLGPSHNAPIGSLN
SNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEKDENLHEPPSSDDM
KSDDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMCQLHLKSEKPQTKLLILHQAVAVIL

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

>37433_37433_2_HOXB3-TCF12_HOXB3_chr17_46651199_ENST00000490677_TCF12_chr15_57523350_ENST00000333725_length(amino acids)=528AA_BP=14
MGSAEFGREEARGAKVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGN
LHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPS
NPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLKNRVEQQLHEHLQDAMSFLKDVCEQSRMEDRLDRLDDAIHVLRNHAVGPSTS
LPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVV
TTEIKTENKEKDENLHEPPSSDDMKSDDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMC

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

>37433_37433_3_HOXB3-TCF12_HOXB3_chr17_46651199_ENST00000490677_TCF12_chr15_57523350_ENST00000438423_length(amino acids)=528AA_BP=14
MGSAEFGREEARGAKVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGN
LHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPS
NPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLKNRVEQQLHEHLQDAMSFLKDVCEQSRMEDRLDRLDDAIHVLRNHAVGPSTS
LPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVV
TTEIKTENKEKDENLHEPPSSDDMKSDDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMC

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

>37433_37433_4_HOXB3-TCF12_HOXB3_chr17_46651199_ENST00000490677_TCF12_chr15_57523350_ENST00000452095_length(amino acids)=528AA_BP=14
MGSAEFGREEARGAKVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGN
LHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPS
NPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLKNRVEQQLHEHLQDAMSFLKDVCEQSRMEDRLDRLDDAIHVLRNHAVGPSTS
LPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVV
TTEIKTENKEKDENLHEPPSSDDMKSDDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMC

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

>37433_37433_5_HOXB3-TCF12_HOXB3_chr17_46651199_ENST00000490677_TCF12_chr15_57523350_ENST00000557843_length(amino acids)=504AA_BP=14
MGSAEFGREEARGAKVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGN
LHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPS
NPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVGPSTSLPAGHSDIHSLLGPSHNAPIGSLN
SNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEKDENLHEPPSSDDM
KSDDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMCQLHLKSEKPQTKLLILHQAVAVIL

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

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Fusion Protein Functional Features


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/chr17:46651199/chr15:57523350)
- 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
HOXB3

P14651

.
FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneTCF12chr17:46651199chr15:57523350ENST00000267811720577_630193.01821.3333333333333DomainbHLH
TgeneTCF12chr17:46651199chr15:57523350ENST00000333725721577_630193.01420.0DomainbHLH
TgeneTCF12chr17:46651199chr15:57523350ENST00000343827013577_63023.01254.6666666666667DomainbHLH
TgeneTCF12chr17:46651199chr15:57523350ENST00000438423721577_630193.01398.3333333333333DomainbHLH
TgeneTCF12chr17:46651199chr15:57523350ENST00000557843720577_630193.01301.0DomainbHLH
TgeneTCF12chr17:46651199chr15:57523350ENST00000267811720632_655193.01821.3333333333333RegionNote=Class A specific domain
TgeneTCF12chr17:46651199chr15:57523350ENST00000333725721632_655193.01420.0RegionNote=Class A specific domain
TgeneTCF12chr17:46651199chr15:57523350ENST00000343827013119_14023.01254.6666666666667RegionNote=Leucine-zipper
TgeneTCF12chr17:46651199chr15:57523350ENST00000343827013632_65523.01254.6666666666667RegionNote=Class A specific domain
TgeneTCF12chr17:46651199chr15:57523350ENST00000438423721632_655193.01398.3333333333333RegionNote=Class A specific domain
TgeneTCF12chr17:46651199chr15:57523350ENST00000557843720632_655193.01301.0RegionNote=Class A specific domain

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHOXB3chr17:46651199chr15:57523350ENST00000311626-14154_1780432.0Compositional biasNote=Gly-rich
HgeneHOXB3chr17:46651199chr15:57523350ENST00000470495-12154_1780432.0Compositional biasNote=Gly-rich
HgeneHOXB3chr17:46651199chr15:57523350ENST00000476342-13154_1780432.0Compositional biasNote=Gly-rich
HgeneHOXB3chr17:46651199chr15:57523350ENST00000498678-25154_1780432.0Compositional biasNote=Gly-rich
HgeneHOXB3chr17:46651199chr15:57523350ENST00000311626-14188_2470432.0DNA bindingHomeobox
HgeneHOXB3chr17:46651199chr15:57523350ENST00000470495-12188_2470432.0DNA bindingHomeobox
HgeneHOXB3chr17:46651199chr15:57523350ENST00000476342-13188_2470432.0DNA bindingHomeobox
HgeneHOXB3chr17:46651199chr15:57523350ENST00000498678-25188_2470432.0DNA bindingHomeobox
HgeneHOXB3chr17:46651199chr15:57523350ENST00000311626-14129_1340432.0MotifNote=Antp-type hexapeptide
HgeneHOXB3chr17:46651199chr15:57523350ENST00000470495-12129_1340432.0MotifNote=Antp-type hexapeptide
HgeneHOXB3chr17:46651199chr15:57523350ENST00000476342-13129_1340432.0MotifNote=Antp-type hexapeptide
HgeneHOXB3chr17:46651199chr15:57523350ENST00000498678-25129_1340432.0MotifNote=Antp-type hexapeptide
TgeneTCF12chr17:46651199chr15:57523350ENST0000026781172019_27193.01821.3333333333333MotifNote=9aaTAD
TgeneTCF12chr17:46651199chr15:57523350ENST0000033372572119_27193.01420.0MotifNote=9aaTAD
TgeneTCF12chr17:46651199chr15:57523350ENST0000034382701319_2723.01254.6666666666667MotifNote=9aaTAD
TgeneTCF12chr17:46651199chr15:57523350ENST0000043842372119_27193.01398.3333333333333MotifNote=9aaTAD
TgeneTCF12chr17:46651199chr15:57523350ENST0000055784372019_27193.01301.0MotifNote=9aaTAD
TgeneTCF12chr17:46651199chr15:57523350ENST00000267811720119_140193.01821.3333333333333RegionNote=Leucine-zipper
TgeneTCF12chr17:46651199chr15:57523350ENST00000333725721119_140193.01420.0RegionNote=Leucine-zipper
TgeneTCF12chr17:46651199chr15:57523350ENST00000438423721119_140193.01398.3333333333333RegionNote=Leucine-zipper
TgeneTCF12chr17:46651199chr15:57523350ENST00000557843720119_140193.01301.0RegionNote=Leucine-zipper


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
HOXB3
TCF12


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneTCF12chr17:46651199chr15:57523350ENST00000267811720182_196193.01821.3333333333333RUNX1T1
TgeneTCF12chr17:46651199chr15:57523350ENST00000333725721182_196193.01420.0RUNX1T1
TgeneTCF12chr17:46651199chr15:57523350ENST00000438423721182_196193.01398.3333333333333RUNX1T1
TgeneTCF12chr17:46651199chr15:57523350ENST00000557843720182_196193.01301.0RUNX1T1


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Related Drugs to HOXB3-TCF12


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to HOXB3-TCF12


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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