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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:FAM188A-CACNB2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FAM188A-CACNB2
FusionPDB ID: 28760
FusionGDB2.0 ID: 53679
HgeneTgene
Gene symbol

FAM188A

CACNB2

Gene ID

80013

783

Gene nameMINDY lysine 48 deubiquitinase 3calcium voltage-gated channel auxiliary subunit beta 2
SynonymsC10orf97|CARP|DERP5|FAM188A|MST126|MSTP126|my042CAB2|CACNLB2|CAVB2|MYSB
Cytomap

10p13

10p12.33-p12.31

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase MINDY-3CARD-containing proteinMINDY deubiquitinase 3caspase recruitment domain containing pro-apoptotic proteindermal papilla-derived protein 5deubiquitinating enzyme MINDY-3family with sequence similarity 188 mvoltage-dependent L-type calcium channel subunit beta-2calcium channel voltage-dependent subunit beta 2calcium channel, voltage-dependent, beta 2 subunitlambert-Eaton myasthenic syndrome antigen Bmyasthenic (Lambert-Eaton) syndrome antigen B
Modification date2020032020200322
UniProtAcc.

Q08289

Ensembl transtripts involved in fusion geneENST idsENST00000277632, ENST00000477891, 
ENST00000378036, 
ENST00000467034, 
ENST00000282343, ENST00000324631, 
ENST00000352115, ENST00000377315, 
ENST00000377319, ENST00000377328, 
ENST00000377329, ENST00000377331, 
ENST00000396576, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 3=1815 X 16 X 3=720
# samples 316
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(16/720*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FAM188A [Title/Abstract] AND CACNB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FAM188A(15902205)-CACNB2(18787284), # samples:1
Anticipated loss of major functional domain due to fusion event.FAM188A-CACNB2 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.
FAM188A-CACNB2 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.
* 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
TgeneCACNB2

GO:0051928

positive regulation of calcium ion transport

1309651

TgeneCACNB2

GO:0070509

calcium ion import

1309651


check buttonFusion gene breakpoints across FAM188A (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 CACNB2 (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
ChimerDB4LGGTCGA-DB-A4XE-01AFAM188Achr10

15902205

-CACNB2chr10

18787284

+


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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)
ENST00000277632FAM188Achr1015902205-ENST00000324631CACNB2chr1018787284+33683153931964523
ENST00000277632FAM188Achr1015902205-ENST00000377328CACNB2chr1018787284+12153153931214273
ENST00000277632FAM188Achr1015902205-ENST00000352115CACNB2chr1018787284+18933153931892499
ENST00000277632FAM188Achr1015902205-ENST00000282343CACNB2chr1018787284+33683153931964523
ENST00000277632FAM188Achr1015902205-ENST00000377331CACNB2chr1018787284+18933153931892499
ENST00000277632FAM188Achr1015902205-ENST00000396576CACNB2chr1018787284+41103153931964523
ENST00000277632FAM188Achr1015902205-ENST00000377319CACNB2chr1018787284+32543153931850485
ENST00000277632FAM188Achr1015902205-ENST00000377329CACNB2chr1018787284+33503153931964523
ENST00000277632FAM188Achr1015902205-ENST00000377315CACNB2chr1018787284+33683153931964523

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
ENST00000277632ENST00000324631FAM188Achr1015902205-CACNB2chr1018787284+0.0010938890.99890614
ENST00000277632ENST00000377328FAM188Achr1015902205-CACNB2chr1018787284+0.0097875590.9902124
ENST00000277632ENST00000352115FAM188Achr1015902205-CACNB2chr1018787284+0.0066801480.99331987
ENST00000277632ENST00000282343FAM188Achr1015902205-CACNB2chr1018787284+0.0010938890.99890614
ENST00000277632ENST00000377331FAM188Achr1015902205-CACNB2chr1018787284+0.0066801480.99331987
ENST00000277632ENST00000396576FAM188Achr1015902205-CACNB2chr1018787284+0.0007852930.99921465
ENST00000277632ENST00000377319FAM188Achr1015902205-CACNB2chr1018787284+0.0014800810.99851996
ENST00000277632ENST00000377329FAM188Achr1015902205-CACNB2chr1018787284+0.0011029890.99889696
ENST00000277632ENST00000377315FAM188Achr1015902205-CACNB2chr1018787284+0.0010938890.99890614

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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

>28760_28760_1_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000282343_length(amino acids)=523AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDI
DATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRIS
ITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRL
IKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQG
SQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRD

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

>28760_28760_2_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000324631_length(amino acids)=523AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDI
DATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRIS
ITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRL
IKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQG
SQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRD

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

>28760_28760_3_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000352115_length(amino acids)=499AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSGAKS
ADEQDQWKTAGLFWRFTTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAI
IERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQ
CPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPS
VEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRD

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

>28760_28760_4_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000377315_length(amino acids)=523AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDI
DATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRIS
ITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRL
IKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQG
SQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRD

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

>28760_28760_5_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000377319_length(amino acids)=485AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAKQK
QKSTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQ
SEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQ
LEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSS
APHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQR

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

>28760_28760_6_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000377328_length(amino acids)=273AA_BP=
MAISFEAKDFLHVKEVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLS
RTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAY
VEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVY

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

>28760_28760_7_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000377329_length(amino acids)=523AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDI
DATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRIS
ITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRL
IKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQG
SQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRD

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

>28760_28760_8_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000377331_length(amino acids)=499AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSGAKS
ADEQDQWKTAGLFWRFTTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAI
IERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQ
CPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPS
VEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRD

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

>28760_28760_9_FAM188A-CACNB2_FAM188A_chr10_15902205_ENST00000277632_CACNB2_chr10_18787284_ENST00000396576_length(amino acids)=523AA_BP=
MAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDI
DATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRIS
ITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRL
IKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQG
SQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRD

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

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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/chr10:15902205/chr10:18787284)
- 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
.CACNB2

Q08289

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.FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

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
TgeneCACNB2chr10:15902205chr10:18787284ENST00000282343214114_18383.0633.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000324631214114_183111.0661.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000352115214114_183111.0637.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000377315113114_18363.0613.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000377319113114_18356.0568.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000377329113114_18357.0607.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000377331214114_18383.0609.0DomainSH3
TgeneCACNB2chr10:15902205chr10:18787284ENST00000396576113114_18356.0606.0DomainSH3

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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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
FAM188A
CACNB2


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


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Related Drugs to FAM188A-CACNB2


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 FAM188A-CACNB2


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