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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:SFMBT1-HPS3 (FusionGDB2 ID:81093)

Fusion Gene Summary for SFMBT1-HPS3

check button Fusion gene summary
Fusion gene informationFusion gene name: SFMBT1-HPS3
Fusion gene ID: 81093
HgeneTgene
Gene symbol

SFMBT1

HPS3

Gene ID

51460

84343

Gene nameScm like with four mbt domains 1HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
SynonymsRU1|SFMBT|hSFMBTBLOC2S1|SUTAL
Cytomap

3p21.1

3q24

Type of geneprotein-codingprotein-coding
Descriptionscm-like with four MBT domains protein 1Scm-related gene containing four mbt domainsScm-related gene product containing four mbt domainsrenal ubiquitous protein 1Hermansky-Pudlak syndrome 3 protein
Modification date2020031320200313
UniProtAcc.

Q969F9

Ensembl transtripts involved in fusion geneENST00000296295, ENST00000358080, 
ENST00000394750, ENST00000394752, 
ENST00000470575, 		ENST00000494327, 
ENST00000296051, ENST00000460120, 
Fusion gene scores* DoF score18 X 15 X 11=29701 X 1 X 1=1
# samples 221
** MAII scorelog2(22/2970*10)=-3.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: SFMBT1 [Title/Abstract] AND HPS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSFMBT1(52966078)-HPS3(148877833), # samples:2
Anticipated loss of major functional domain due to fusion event.SFMBT1-HPS3 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
SFMBT1-HPS3 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
HgeneSFMBT1

GO:0045892

negative regulation of transcription, DNA-templated

23592795


check buttonFusion gene breakpoints across SFMBT1 (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 HPS3 (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
ChimerDB4LIHCTCGA-BC-A10T-01ASFMBT1chr3

52966078

-HPS3chr3

148877833

+


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Fusion Gene ORF analysis for SFMBT1-HPS3

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
5CDS-intronENST00000296295ENST00000494327SFMBT1chr3

52966078

-HPS3chr3

148877833

+
5CDS-intronENST00000358080ENST00000494327SFMBT1chr3

52966078

-HPS3chr3

148877833

+
5CDS-intronENST00000394750ENST00000494327SFMBT1chr3

52966078

-HPS3chr3

148877833

+
5CDS-intronENST00000394752ENST00000494327SFMBT1chr3

52966078

-HPS3chr3

148877833

+
Frame-shiftENST00000296295ENST00000296051SFMBT1chr3

52966078

-HPS3chr3

148877833

+
Frame-shiftENST00000296295ENST00000460120SFMBT1chr3

52966078

-HPS3chr3

148877833

+
Frame-shiftENST00000394752ENST00000296051SFMBT1chr3

52966078

-HPS3chr3

148877833

+
Frame-shiftENST00000394752ENST00000460120SFMBT1chr3

52966078

-HPS3chr3

148877833

+
In-frameENST00000358080ENST00000296051SFMBT1chr3

52966078

-HPS3chr3

148877833

+
In-frameENST00000358080ENST00000460120SFMBT1chr3

52966078

-HPS3chr3

148877833

+
In-frameENST00000394750ENST00000296051SFMBT1chr3

52966078

-HPS3chr3

148877833

+
In-frameENST00000394750ENST00000460120SFMBT1chr3

52966078

-HPS3chr3

148877833

+
intron-3CDSENST00000470575ENST00000296051SFMBT1chr3

52966078

-HPS3chr3

148877833

+
intron-3CDSENST00000470575ENST00000460120SFMBT1chr3

52966078

-HPS3chr3

148877833

+
intron-intronENST00000470575ENST00000494327SFMBT1chr3

52966078

-HPS3chr3

148877833

+

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)
ENST00000394750SFMBT1chr352966078-ENST00000296051HPS3chr3148877833+3922126911552411418
ENST00000394750SFMBT1chr352966078-ENST00000460120HPS3chr3148877833+2551126911552411418
ENST00000358080SFMBT1chr352966078-ENST00000296051HPS3chr3148877833+3841118810742330418
ENST00000358080SFMBT1chr352966078-ENST00000460120HPS3chr3148877833+2470118810742330418

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
ENST00000394750ENST00000296051SFMBT1chr352966078-HPS3chr3148877833+0.0003730110.999627
ENST00000394750ENST00000460120SFMBT1chr352966078-HPS3chr3148877833+0.0014554290.9985446
ENST00000358080ENST00000296051SFMBT1chr352966078-HPS3chr3148877833+0.0003731980.99962676
ENST00000358080ENST00000460120SFMBT1chr352966078-HPS3chr3148877833+0.0016533550.9983467

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Fusion Genomic Features for SFMBT1-HPS3


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)
SFMBT1chr352966077-HPS3chr3148877832+1.19E-050.9999881
SFMBT1chr352966077-HPS3chr3148877832+1.19E-050.9999881

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.
genomic feature of top 1%

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Fusion Protein Features for SFMBT1-HPS3


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/chr3:52966078/chr3:148877833)
- 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
.HPS3

Q969F9

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: Involved in early stages of melanosome biogenesis and maturation. {ECO:0000250|UniProtKB:Q91VB4}.

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
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000296295-62034_42233824.0RegionNote=Antigenic epitope
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000358080-72234_42233867.0RegionNote=Antigenic epitope
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394750-72234_42233867.0RegionNote=Antigenic epitope
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394752-62134_42233867.0RegionNote=Antigenic epitope
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000296295-620128_232233824.0RepeatNote=MBT 2
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000296295-62020_120233824.0RepeatNote=MBT 1
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000358080-722128_232233867.0RepeatNote=MBT 2
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000358080-72220_120233867.0RepeatNote=MBT 1
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394750-722128_232233867.0RepeatNote=MBT 2
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394750-72220_120233867.0RepeatNote=MBT 1
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394752-621128_232233867.0RepeatNote=MBT 2
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394752-62120_120233867.0RepeatNote=MBT 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000296295-620796_864233824.0DomainNote=SAM
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000358080-722796_864233867.0DomainNote=SAM
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394750-722796_864233867.0DomainNote=SAM
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394752-621796_864233867.0DomainNote=SAM
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000296295-620242_348233824.0RepeatNote=MBT 3
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000296295-620356_453233824.0RepeatNote=MBT 4
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000358080-722242_348233867.0RepeatNote=MBT 3
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000358080-722356_453233867.0RepeatNote=MBT 4
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394750-722242_348233867.0RepeatNote=MBT 3
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394750-722356_453233867.0RepeatNote=MBT 4
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394752-621242_348233867.0RepeatNote=MBT 3
HgeneSFMBT1chr3:52966078chr3:148877833ENST00000394752-621356_453233867.0RepeatNote=MBT 4
TgeneHPS3chr3:52966078chr3:148877833ENST00000296051917172_1766241005.0MotifClathrin-binding


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Fusion Gene Sequence for SFMBT1-HPS3


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.
>81093_81093_1_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000358080_HPS3_chr3_148877833_ENST00000296051_length(transcript)=3841nt_BP=1188nt
CGCGGAGCGCCGCCGCCGCCTCCGCCGGAGCGCGGGTGGAGGGGGGCGGGGAGAGCTGCCGGCCGCCCCGCTCCGCCGAACCCAGCAGGA
AGGAGGGCGCGAGCGGGCGAGCGCGGGCAGCACGGGAGGAAAAAGCTTCCGCGCGGGGGAGCGAAAAGACGGAAAGAAAGAAAGAAAACG
AGCGCGAGAGGGGGAAAAGCGAGCGATCGAGCGAGCGCGCGCGCGAAAACTCCGGGCAGGAAGGTGGACTTTTAAATATTCTCCACTGAA
GCAAATGCTGCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCA
CTTTCATTTGGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTT
TGTTTTGGGAGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGG
TAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAA
ATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGC
AGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTG
GGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCC
TGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGAC
TAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAG
GACTTGAAAGTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATG
AGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGT
CCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTG
ACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGC
TTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCT
GGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCT
AAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTC
TTTTTCAAACTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATA
AATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGAT
CTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATT
GCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCA
GTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAA
TGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATG
AATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCAT
TTGAAAAATACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCAC
ACACACACACACACACACACACACACACACACACATATATGATACAAATGCTTTCAGGCTGCTTACCTTACCGTGTAGTGGTAACTATTC
ACTTCTTAATTTATGACCTCAATCAATTTAATTGTCTAGAATGTAAAAAGTCTTTAAGACATAAGAATTCCTCAAAGAAGCCATACATTT
TTTAAGGTGGGGATTGACTTTTATTCCAAGGAACAACATCAGTTCACTGTTGTTGGAGACATGACAATCATTTTCATCCCAAGAACACTT
TAAGGAAACATTTTACAAGTATGCTTGAAAGAATGTCACTAACTGGTCCAGAATTTTATCTTCTTGATTTTTCCAGATTTCTCTATGTTT
TTGAGAAAGATGTTAATGTTTTGCCATGGTAAAAGATTTCAAACCTCATTTTTTTTGTTCCTTTTCTTGTTACTTTTAAGAAAACTCATG
CTCTGTTTCTCTGAATCAAATGAAGTAGAAGTTTACAAAGCTAACTTTCTTCTTGTCTAGCTATTAACATGATTTGTCAAATGCATGTTT
TTTTCAGCCAAAGCCTTGTTTCCATTTTTGTTGATGTGTACTCTTGCTCTTTTAGCTAGAGTGTATGTGAAAATAAAGAAATACATCATT
GTATTCACAACCATGTGTCTTCATTTATAACTTTTTGTTTAAAAAATTTTTAGTTCAAGTTTAGTTCATTGATATTATCCTCTGAATGCA
GTTAAGGCTGGGCAGAAATTCTACTCATGTGACATCTGCCACAGGTCTATTTTGAAGCTTTTCTTCTAATGGCAATGTTTGTCCTTACCA
GGATTTAATCTATAGAATTGTCTCTCAACTCTGCTTTTCTCCAGTTCCAGATAACGTCCTTAAGACCATCTGTTCAGGGGTTCACAAAAC
TCAAATTTGTGTCATTCTATTTTATTTATTTTATTTTTTATTTCCTTCCCTCATACCTTGCCCATTCCCTCTGAATATTAGGTGTGATGT
CAACAGCATGTTAGAAGGATCAATGGGAAGGCAATGATTGAAAACATTTCAATGAACCTTAATAGTGTTCCTTTGAGGAGCACCCAGGAG
AATATCTGGTCATAGATCTTTTTTTAAATGCAGTTTTATAAAACCCTAACAGCGGTGATATCATTAGACTGTATGAATCAGTTTTATTAC
CTAGTGTACAAGTGTCAGTCATGTATCATTATATAGTCTGTTGATCTTTCCATTTGCAAAAAATTAATAGTTTTCCCCCACAAATGTACA
AAGTTGTATGCTTCCAGTCTTCTTTTAATGTTTATAGTCATTCCAAAGTAACATTCTATTTTACACTTTCACATACATTGTTATGAATCA

>81093_81093_1_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000358080_HPS3_chr3_148877833_ENST00000296051_length(amino acids)=418AA_BP=38
MKDLKVLTIMNIGCITWIHFFITLVGLLNRDMSFSPLQELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILV
TLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVL
CAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYT
EDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQR

--------------------------------------------------------------
>81093_81093_2_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000358080_HPS3_chr3_148877833_ENST00000460120_length(transcript)=2470nt_BP=1188nt
CGCGGAGCGCCGCCGCCGCCTCCGCCGGAGCGCGGGTGGAGGGGGGCGGGGAGAGCTGCCGGCCGCCCCGCTCCGCCGAACCCAGCAGGA
AGGAGGGCGCGAGCGGGCGAGCGCGGGCAGCACGGGAGGAAAAAGCTTCCGCGCGGGGGAGCGAAAAGACGGAAAGAAAGAAAGAAAACG
AGCGCGAGAGGGGGAAAAGCGAGCGATCGAGCGAGCGCGCGCGCGAAAACTCCGGGCAGGAAGGTGGACTTTTAAATATTCTCCACTGAA
GCAAATGCTGCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCA
CTTTCATTTGGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTT
TGTTTTGGGAGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGG
TAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAA
ATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGC
AGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTG
GGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCC
TGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGAC
TAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAG
GACTTGAAAGTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATG
AGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGT
CCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTG
ACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGC
TTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCT
GGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCT
AAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTC
TTTTTCAAACTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATA
AATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGAT
CTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATT
GCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCA
GTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAA
TGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATG
AATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCAT
TTGAAAAATACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCAC

>81093_81093_2_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000358080_HPS3_chr3_148877833_ENST00000460120_length(amino acids)=418AA_BP=38
MKDLKVLTIMNIGCITWIHFFITLVGLLNRDMSFSPLQELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILV
TLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVL
CAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYT
EDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQR

--------------------------------------------------------------
>81093_81093_3_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000394750_HPS3_chr3_148877833_ENST00000296051_length(transcript)=3922nt_BP=1269nt
GGCCCGGGCGGTCGCTGCGCGGTGGCGGAGCGTCTAGTGGCCGCCGCAACCGGTGGCTCCGGGCCGCCGTTGTGAAGTGAGCGGGCCTCT
CCCGCGCCGCGGCCCGCCGGGCACCGCCGCTGGACCCCGCGCCGACCCGGCAGCGCCCCGACCTGCCGCTCGGGAGGTCCGCGACCGTTT
CGATTTCTGTTCCTAAAGTCCGATTTTGGACGCTGAAAAGGAGGCTGTGGAGGGGCGAGCGGCGTCCTGGGAAGCAAGGCCTGCTCTGTG
CGGAGCAGAAACGCCTTGTGCGAACAGAAATAAATTCCCGCGGAAAGGATGAAGGTGGACTTTTAAATATTCTCCACTGAAGCAAATGCT
GCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCACTTTCATTT
GGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTTTGTTTTGGG
AGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAA
GCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTG
CTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCC
TTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTG
AGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAG
CATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTC
AAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAA
GTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGC
CCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATG
AAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCA
GCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTG
GAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTT
GTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAA
GATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAA
CTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGT
AGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAA
TTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTC
AGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCA
TATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGA
GAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTC
CCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCATTTGAAAAAT
ACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCACACACACACA
CACACACACACACACACACACACACATATATGATACAAATGCTTTCAGGCTGCTTACCTTACCGTGTAGTGGTAACTATTCACTTCTTAA
TTTATGACCTCAATCAATTTAATTGTCTAGAATGTAAAAAGTCTTTAAGACATAAGAATTCCTCAAAGAAGCCATACATTTTTTAAGGTG
GGGATTGACTTTTATTCCAAGGAACAACATCAGTTCACTGTTGTTGGAGACATGACAATCATTTTCATCCCAAGAACACTTTAAGGAAAC
ATTTTACAAGTATGCTTGAAAGAATGTCACTAACTGGTCCAGAATTTTATCTTCTTGATTTTTCCAGATTTCTCTATGTTTTTGAGAAAG
ATGTTAATGTTTTGCCATGGTAAAAGATTTCAAACCTCATTTTTTTTGTTCCTTTTCTTGTTACTTTTAAGAAAACTCATGCTCTGTTTC
TCTGAATCAAATGAAGTAGAAGTTTACAAAGCTAACTTTCTTCTTGTCTAGCTATTAACATGATTTGTCAAATGCATGTTTTTTTCAGCC
AAAGCCTTGTTTCCATTTTTGTTGATGTGTACTCTTGCTCTTTTAGCTAGAGTGTATGTGAAAATAAAGAAATACATCATTGTATTCACA
ACCATGTGTCTTCATTTATAACTTTTTGTTTAAAAAATTTTTAGTTCAAGTTTAGTTCATTGATATTATCCTCTGAATGCAGTTAAGGCT
GGGCAGAAATTCTACTCATGTGACATCTGCCACAGGTCTATTTTGAAGCTTTTCTTCTAATGGCAATGTTTGTCCTTACCAGGATTTAAT
CTATAGAATTGTCTCTCAACTCTGCTTTTCTCCAGTTCCAGATAACGTCCTTAAGACCATCTGTTCAGGGGTTCACAAAACTCAAATTTG
TGTCATTCTATTTTATTTATTTTATTTTTTATTTCCTTCCCTCATACCTTGCCCATTCCCTCTGAATATTAGGTGTGATGTCAACAGCAT
GTTAGAAGGATCAATGGGAAGGCAATGATTGAAAACATTTCAATGAACCTTAATAGTGTTCCTTTGAGGAGCACCCAGGAGAATATCTGG
TCATAGATCTTTTTTTAAATGCAGTTTTATAAAACCCTAACAGCGGTGATATCATTAGACTGTATGAATCAGTTTTATTACCTAGTGTAC
AAGTGTCAGTCATGTATCATTATATAGTCTGTTGATCTTTCCATTTGCAAAAAATTAATAGTTTTCCCCCACAAATGTACAAAGTTGTAT
GCTTCCAGTCTTCTTTTAATGTTTATAGTCATTCCAAAGTAACATTCTATTTTACACTTTCACATACATTGTTATGAATCATTGGTTTTT

>81093_81093_3_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000394750_HPS3_chr3_148877833_ENST00000296051_length(amino acids)=418AA_BP=38
MKDLKVLTIMNIGCITWIHFFITLVGLLNRDMSFSPLQELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILV
TLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVL
CAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYT
EDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQR

--------------------------------------------------------------
>81093_81093_4_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000394750_HPS3_chr3_148877833_ENST00000460120_length(transcript)=2551nt_BP=1269nt
GGCCCGGGCGGTCGCTGCGCGGTGGCGGAGCGTCTAGTGGCCGCCGCAACCGGTGGCTCCGGGCCGCCGTTGTGAAGTGAGCGGGCCTCT
CCCGCGCCGCGGCCCGCCGGGCACCGCCGCTGGACCCCGCGCCGACCCGGCAGCGCCCCGACCTGCCGCTCGGGAGGTCCGCGACCGTTT
CGATTTCTGTTCCTAAAGTCCGATTTTGGACGCTGAAAAGGAGGCTGTGGAGGGGCGAGCGGCGTCCTGGGAAGCAAGGCCTGCTCTGTG
CGGAGCAGAAACGCCTTGTGCGAACAGAAATAAATTCCCGCGGAAAGGATGAAGGTGGACTTTTAAATATTCTCCACTGAAGCAAATGCT
GCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCACTTTCATTT
GGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTTTGTTTTGGG
AGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAA
GCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTG
CTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCC
TTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTG
AGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAG
CATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTC
AAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAA
GTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGC
CCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATG
AAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCA
GCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTG
GAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTT
GTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAA
GATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAA
CTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGT
AGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAA
TTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTC
AGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCA
TATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGA
GAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTC
CCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCATTTGAAAAAT
ACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCACACACACACA

>81093_81093_4_SFMBT1-HPS3_SFMBT1_chr3_52966078_ENST00000394750_HPS3_chr3_148877833_ENST00000460120_length(amino acids)=418AA_BP=38
MKDLKVLTIMNIGCITWIHFFITLVGLLNRDMSFSPLQELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILV
TLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVL
CAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYT
EDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQR

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

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Fusion Gene PPI Analysis for SFMBT1-HPS3


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 SFMBT1-HPS3


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 SFMBT1-HPS3


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