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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:SPECC1-HM13 (FusionGDB2 ID:HG92521TG81502)

Fusion Gene Summary for SPECC1-HM13

check button Fusion gene summary
Fusion gene informationFusion gene name: SPECC1-HM13
Fusion gene ID: hg92521tg81502
HgeneTgene
Gene symbol

SPECC1

HM13

Gene ID

92521

81502

Gene namesperm antigen with calponin homology and coiled-coil domains 1histocompatibility minor 13
SynonymsCYTSB|HCMOGT-1|HCMOGT1|NSPH13|IMP1|IMPAS|IMPAS-1|MSTP086|PSENL3|PSL3|SPP|SPPL1
Cytomap('SPECC1')('HM13')

17p11.2

20q11.21

Type of geneprotein-codingprotein-coding
Descriptioncytospin-BNSP5cytokinesis and spindle organization Bnuclear structure protein 5sperm antigen HCMOGT-1sperm antigen with calponin-like and coiled coil domains 1structure protein NSP5a3astructure protein NSP5a3bstructure protein NSP5b3astructure prminor histocompatibility antigen H13intramembrane protease 1minor histocompatibility antigen 13presenilin-like protein 3signal peptide peptidase betasignal peptide peptidase like 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000472876, ENST00000261503, 
ENST00000395522, ENST00000395525, 
ENST00000395527, ENST00000395529, 
ENST00000395530, ENST00000536879, 
ENST00000584527, 
Fusion gene scores* DoF score11 X 11 X 3=36316 X 19 X 12=3648
# samples 1125
** MAII scorelog2(11/363*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(25/3648*10)=-3.86710572950266
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPECC1 [Title/Abstract] AND HM13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSPECC1(20135718)-HM13(30115287), # samples:3
Anticipated loss of major functional domain due to fusion event.SPECC1-HM13 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.
SPECC1-HM13 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.
SPECC1-HM13 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.
SPECC1-HM13 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.
SPECC1-HM13 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
SPECC1-HM13 seems lost the major protein functional domain in Tgene 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
TgeneHM13

GO:0033619

membrane protein proteolysis

14741365


check buttonFusion gene breakpoints across SPECC1 (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 HM13 (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
ChimerDB4UCECTCGA-PG-A914-01ASPECC1chr17

20135718

-HM13chr20

30115287

+
ChimerDB4UCECTCGA-PG-A914-01ASPECC1chr17

20135718

+HM13chr20

30115287

+
ChimerDB4UCECTCGA-PG-A914SPECC1chr17

20135718

+HM13chr20

30115287

+


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Fusion Gene ORF analysis for SPECC1-HM13

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
3UTR-3CDSENST00000472876ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
3UTR-3CDSENST00000472876ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
3UTR-3CDSENST00000472876ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
3UTR-3CDSENST00000472876ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
3UTR-intronENST00000472876ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000261503ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000395522ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000395525ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000395527ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000395529ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000395530ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000536879ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
5CDS-intronENST00000584527ENST00000492709SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000261503ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000261503ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000261503ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000261503ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395522ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395522ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395522ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395522ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395525ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395525ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395525ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395525ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395527ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395527ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395527ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395527ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395529ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395529ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395529ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395529ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395530ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395530ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395530ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000395530ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000536879ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000536879ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000536879ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
Frame-shiftENST00000536879ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+
In-frameENST00000584527ENST00000335574SPECC1chr17

20135718

+HM13chr20

30115287

+
In-frameENST00000584527ENST00000340852SPECC1chr17

20135718

+HM13chr20

30115287

+
In-frameENST00000584527ENST00000376127SPECC1chr17

20135718

+HM13chr20

30115287

+
In-frameENST00000584527ENST00000398174SPECC1chr17

20135718

+HM13chr20

30115287

+

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)
ENST00000584527SPECC1chr1720135718+ENST00000398174HM13chr2030115287+18914454271542371
ENST00000584527SPECC1chr1720135718+ENST00000340852HM13chr2030115287+17444454271395322
ENST00000584527SPECC1chr1720135718+ENST00000335574HM13chr2030115287+19474454271446339
ENST00000584527SPECC1chr1720135718+ENST00000376127HM13chr2030115287+15934454271269280

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
ENST00000584527ENST00000398174SPECC1chr1720135718+HM13chr2030115287+0.0117004470.9882996
ENST00000584527ENST00000340852SPECC1chr1720135718+HM13chr2030115287+0.0102428860.98975706
ENST00000584527ENST00000335574SPECC1chr1720135718+HM13chr2030115287+0.0195381720.98046184
ENST00000584527ENST00000376127SPECC1chr1720135718+HM13chr2030115287+0.0073194150.9926806

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Fusion Genomic Features for SPECC1-HM13


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)
SPECC1chr1720135718+HM13chr2030115286+1.27E-101
SPECC1chr1720135718+HM13chr2030115286+1.27E-101
SPECC1chr1720135718+HM13chr2030115286+1.27E-101
SPECC1chr1720135718+HM13chr2030115286+1.27E-101

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 SPECC1-HM13


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/chr17:20135718/chr20:30115287)
- 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
HgeneSPECC1chr17:20135718chr20:30115287ENST00000261503+715579_7737831069.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395527+715579_7737831069.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395529+78579_773783791.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1chr17:20135718chr20:30115287ENST00000261503+715260_3727831069.0Compositional biasNote=Ser-rich
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395525+56260_372702710.0Compositional biasNote=Ser-rich
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395527+715260_3727831069.0Compositional biasNote=Ser-rich
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395529+78260_372783791.0Compositional biasNote=Ser-rich
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395530+513260_372702988.0Compositional biasNote=Ser-rich
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013317_31961442.0MotifNote=PAL
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012317_31961378.0MotifNote=PAL
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011317_31961336.0MotifNote=PAL
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013317_31961427.0MotifNote=PAL
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013122_15761442.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013179_18161442.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013203_20961442.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013231_25661442.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013278_29061442.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013312_31461442.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013336_37761442.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST0000033557401399_10061442.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012122_15761378.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012179_18161378.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012203_20961378.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012231_25661378.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012278_29061378.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012312_31461378.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012336_37761378.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST0000034085201299_10061378.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011122_15761336.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011179_18161336.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011203_20961336.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011231_25661336.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011278_29061336.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011312_31461336.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011336_37761336.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST0000037612701199_10061336.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013122_15761427.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013179_18161427.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013203_20961427.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013231_25661427.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013278_29061427.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013312_31461427.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013336_37761427.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST0000039817401399_10061427.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013101_12161442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013158_17861442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013182_20261442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013210_23061442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013257_27761442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013291_31161442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000335574013315_33561442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000033557401378_9861442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012101_12161378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012158_17861378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012182_20261378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012210_23061378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012257_27761378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012291_31161378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000340852012315_33561378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000034085201278_9861378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011101_12161336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011158_17861336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011182_20261336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011210_23061336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011257_27761336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011291_31161336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000376127011315_33561336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000037612701178_9861336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013101_12161427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013158_17861427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013182_20261427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013210_23061427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013257_27761427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013291_31161427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST00000398174013315_33561427.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000039817401378_9861427.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395522+16579_7730903.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395525+56579_773702710.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395530+513579_773702988.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395522+16260_3720903.0Compositional biasNote=Ser-rich
HgeneSPECC1chr17:20135718chr20:30115287ENST00000261503+715962_10677831069.0DomainCalponin-homology (CH)
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395522+16962_10670903.0DomainCalponin-homology (CH)
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395525+56962_1067702710.0DomainCalponin-homology (CH)
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395527+715962_10677831069.0DomainCalponin-homology (CH)
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395529+78962_1067783791.0DomainCalponin-homology (CH)
HgeneSPECC1chr17:20135718chr20:30115287ENST00000395530+513962_1067702988.0DomainCalponin-homology (CH)
TgeneHM13chr17:20135718chr20:30115287ENST000003355740131_3161442.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST0000033557401353_7761442.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST000003408520121_3161378.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST0000034085201253_7761378.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST000003761270111_3161336.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST0000037612701153_7761336.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST000003981740131_3161427.0Topological domainLumenal
TgeneHM13chr17:20135718chr20:30115287ENST0000039817401353_7761427.0Topological domainCytoplasmic
TgeneHM13chr17:20135718chr20:30115287ENST0000033557401332_5261442.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000034085201232_5261378.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000037612701132_5261336.0TransmembraneHelical
TgeneHM13chr17:20135718chr20:30115287ENST0000039817401332_5261427.0TransmembraneHelical


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Fusion Gene Sequence for SPECC1-HM13


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.
>85664_85664_1_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000335574_length(transcript)=1947nt_BP=445nt
ATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATT
AAACATGTTTCCAGTCTGCTGGCCAAGGTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGA
ACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTG
GAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAAGTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGAC
CTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAGGTGAGTCTGGTGGGCACCAGGGCCGTGCTTGCTTCTCAATCACTATAATGC
TTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTT
CAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGGAATCCTGGCCCTGTCCCACACCATCAGCCC
CTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCAAATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGAT
CATCAATTATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCTGCTGAGGAAGCACTGGAT
TGCCAACAACCTTTTTGGCCTGGCCTTCTCCCTTAATGGAGTAGAGCTCCTGCACCTCAACAATGTCAGCACTGGCTGCATCCTGCTGGG
CGGACTCTTCATCTACGATGTCTTCTGGGTATTTGGCACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAAATTGGT
GTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGCAAACAACTTTGCCATGCTGGGACTTGGAGATGTCGTCATTCCAGGGATCTTCAT
TGCCTTGCTGCTGCGCTTTGACATCAGCTTGAAGAAGAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGG
CCTTACCATCTTCATCATGCACATCTTCAAGCATGCTCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGCATCGGTTTTCCTGTCCTGGT
GGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAGCTACGAGTCCTCGGCGGAAATCCTGCCTCATACCCCGAGGCTCACCCACTTCCC
CACAGTCTCGGGCTCCCCAGCCAGCCTGGCCGACTCCATGCAGCAGAAGCTAGCTGGCCCTCGCCGCCGGCGCCCGCAGAATCCCAGCGC
CATGTAATGCCCAGCGGGTGCCCACCTGCCCGCTTCCCCCTACTGCCCCGGGGCCCAAGTTATGAGGAGTCAAATCCTAAGGATCCAGCG
GCAGTGACAGAATCCAAAGAGGGAACAGAGGCATCAGCATCGAAGGGGCTGGAGAAGAAAGAGAAATGATGCAGCTGGTGCCCGAGCCTC
TCAGGGCCAGACCAGACAGATGGGGGCTGGGCCCACACAGGCGTGCACCGGTAGAGGGCACAGGAGGCCAAGGGCAGCTCCAGGACAGGG
CAGGGGGCAGCAGGATACCTCCAGCCAGGCCTCTGTGGCCTCTGTTTCCTTCTCCCTTTCTTGGCCCTCCTCTGCTCCTCCCCACACCCT
GCAGGCAAAAGAAACCCCCAGCTTCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTGGGTGTGATTTTTAGATTTTGTATTGTGGACTGAT

>85664_85664_1_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000335574_length(amino acids)=339AA_BP=6
MLLNHYNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQG
SGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKS
FEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPA

--------------------------------------------------------------
>85664_85664_2_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000340852_length(transcript)=1744nt_BP=445nt
ATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATT
AAACATGTTTCCAGTCTGCTGGCCAAGGTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGA
ACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTG
GAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAAGTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGAC
CTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAGGTGAGTCTGGTGGGCACCAGGGCCGTGCTTGCTTCTCAATCACTATAATGC
TTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTT
CAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGGAATCCTGGCCCTGTCCCACACCATCAGCCC
CTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCAAATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGAT
CATCAATTATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCTGCTGAGGAAGCACTGGAT
TGCCAACAACCTTTTTGGCCTGGCCTTCTCCCTTAATGGAGTAGAGCTCCTGCACCTCAACAATGTCAGCACTGGCTGCATCCTGCTGGG
CGGACTCTTCATCTACGATGTCTTCTGGGTATTTGGCACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAAATTGGT
GTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGCAAACAACTTTGCCATGCTGGGACTTGGAGATGTCGTCATTCCAGGGATCTTCAT
TGCCTTGCTGCTGCGCTTTGACATCAGCTTGAAGAAGAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGG
CCTTACCATCTTCATCATGCACATCTTCAAGCATGCTCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGCATCGGTTTTCCTGTCCTGGT
GGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAGTTATGAGGAGTCAAATCCTAAGGATCCAGCGGCAGTGACAGAATCCAAAGAGGG
AACAGAGGCATCAGCATCGAAGGGGCTGGAGAAGAAAGAGAAATGATGCAGCTGGTGCCCGAGCCTCTCAGGGCCAGACCAGACAGATGG
GGGCTGGGCCCACACAGGCGTGCACCGGTAGAGGGCACAGGAGGCCAAGGGCAGCTCCAGGACAGGGCAGGGGGCAGCAGGATACCTCCA
GCCAGGCCTCTGTGGCCTCTGTTTCCTTCTCCCTTTCTTGGCCCTCCTCTGCTCCTCCCCACACCCTGCAGGCAAAAGAAACCCCCAGCT
TCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTGGGTGTGATTTTTAGATTTTGTATTGTGGACTGATTTTGCCTCACATTAAAAACTCAT

>85664_85664_2_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000340852_length(amino acids)=322AA_BP=6
MLLNHYNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQG
SGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKS
FEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPA

--------------------------------------------------------------
>85664_85664_3_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000376127_length(transcript)=1593nt_BP=445nt
ATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATT
AAACATGTTTCCAGTCTGCTGGCCAAGGTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGA
ACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTG
GAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAAGTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGAC
CTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAGGTGAGTCTGGTGGGCACCAGGGCCGTGCTTGCTTCTCAATCACTATAATGC
TTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTT
CAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGGAATCCTGGCCCTGTCCCACACCATCAGCCC
CTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCAAATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGAT
CATCAATTATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCTGCTGAGGAAGGTATTTGG
CACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAAATTGGTGTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGC
AAACAACTTTGCCATGCTGGGACTTGGAGATGTCGTCATTCCAGGGATCTTCATTGCCTTGCTGCTGCGCTTTGACATCAGCTTGAAGAA
GAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGGCCTTACCATCTTCATCATGCACATCTTCAAGCATGC
TCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGCATCGGTTTTCCTGTCCTGGTGGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAG
TTATGAGGAGTCAAATCCTAAGGATCCAGCGGCAGTGACAGAATCCAAAGAGGGAACAGAGGCATCAGCATCGAAGGGGCTGGAGAAGAA
AGAGAAATGATGCAGCTGGTGCCCGAGCCTCTCAGGGCCAGACCAGACAGATGGGGGCTGGGCCCACACAGGCGTGCACCGGTAGAGGGC
ACAGGAGGCCAAGGGCAGCTCCAGGACAGGGCAGGGGGCAGCAGGATACCTCCAGCCAGGCCTCTGTGGCCTCTGTTTCCTTCTCCCTTT
CTTGGCCCTCCTCTGCTCCTCCCCACACCCTGCAGGCAAAAGAAACCCCCAGCTTCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTGGGT

>85664_85664_3_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000376127_length(amino acids)=280AA_BP=6
MLLNHYNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQG
SGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKVFGTNVMVTVAKSFEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLL
RFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPACIGFPVLVALAKGEVTEMFSYEESNPKDPAAVTESKEGTEAS

--------------------------------------------------------------
>85664_85664_4_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000398174_length(transcript)=1891nt_BP=445nt
ATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATT
AAACATGTTTCCAGTCTGCTGGCCAAGGTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGA
ACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTG
GAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAAGTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGAC
CTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAGGTGAGTCTGGTGGGCACCAGGGCCGTGCTTGCTTCTCAATCACTATAATGC
TTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTT
CAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGGAATCCTGGCCCTGTCCCACACCATCAGCCC
CTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCAAATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGAT
CATCAATTATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCTGCTGAGGAAGCACTGGAT
TGCCAACAACCTTTTTGGCCTGGCCTTCTCCCTTAATGGAGTAGAGCTCCTGCACCTCAACAATGTCAGCACTGGCTGCATCCTGCTGGG
CGGACTCTTCATCTACGATGTCTTCTGGGTATTTGGCACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAAATTGGT
GTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGCAAACAACTTTGCCATGCTGGGACTTGGAGATGTCGTCATTCCAGGGATCTTCAT
TGCCTTGCTGCTGCGCTTTGACATCAGCTTGAAGAAGAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGG
CCTTACCATCTTCATCATGCACATCTTCAAGCATGCTCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGCATCGGTTTTCCTGTCCTGGT
GGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAGCTACGAGTCCTCGGCGGAAATCCTGCCTCATACCCCGAGGCTCACCCACTTCCC
CACAGTCTCGGGCTCCCCAGCCAGCCTGGCCGACTCCATGCAGCAGAAGCTAGCTGGCCCTCGCCGCCGGCGCCCGCAGAATCCCAGCGC
CATTTATGAGGAGTCAAATCCTAAGGATCCAGCGGCAGTGACAGAATCCAAAGAGGGAACAGAGGCATCAGCATCGAAGGGGCTGGAGAA
GAAAGAGAAATGATGCAGCTGGTGCCCGAGCCTCTCAGGGCCAGACCAGACAGATGGGGGCTGGGCCCACACAGGCGTGCACCGGTAGAG
GGCACAGGAGGCCAAGGGCAGCTCCAGGACAGGGCAGGGGGCAGCAGGATACCTCCAGCCAGGCCTCTGTGGCCTCTGTTTCCTTCTCCC
TTTCTTGGCCCTCCTCTGCTCCTCCCCACACCCTGCAGGCAAAAGAAACCCCCAGCTTCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTG
GGTGTGATTTTTAGATTTTGTATTGTGGACTGATTTTGCCTCACATTAAAAACTCATCCCATGGCCAGGGCGGGCCACTGTGCTCCTGGA

>85664_85664_4_SPECC1-HM13_SPECC1_chr17_20135718_ENST00000584527_HM13_chr20_30115287_ENST00000398174_length(amino acids)=371AA_BP=6
MLLNHYNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQG
SGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKS
FEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPA
CIGFPVLVALAKGEVTEMFSYESSAEILPHTPRLTHFPTVSGSPASLADSMQQKLAGPRRRRPQNPSAIYEESNPKDPAAVTESKEGTEA

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

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Fusion Gene PPI Analysis for SPECC1-HM13


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 SPECC1-HM13


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 SPECC1-HM13


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