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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:BSG-PMEL

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BSG-PMEL
FusionPDB ID: 10394
FusionGDB2.0 ID: 10394
HgeneTgene
Gene symbol

BSG

PMEL

Gene ID

682

6490

Gene namebasigin (Ok blood group)premelanosome protein
Synonyms5F7|CD147|EMMPRIN|EMPRIN|OK|SLC7A11|TCSFD12S53E|ME20|ME20-M|ME20M|P1|P100|PMEL17|SI|SIL|SILV|gp100
Cytomap

19p13.3

12q13.2

Type of geneprotein-codingprotein-coding
DescriptionbasiginOK blood group antigencollagenase stimulatory factorextracellular matrix metalloproteinase inducerleukocyte activation antigen M6tumor cell-derived collagenase stimulatory factormelanocyte protein PMELmelanocyte protein Pmel 17melanocyte protein mel 17melanocytes lineage-specific antigen GP100melanoma-associated ME20 antigenmelanosomal matrix protein17silver locus protein homologsilver, mouse, homolog of
Modification date2020031520200313
UniProtAcc

P35613

.
Ensembl transtripts involved in fusion geneENST idsENST00000333511, ENST00000353555, 
ENST00000346916, ENST00000545507, 
ENST00000574970, 		ENST00000548689, 
ENST00000360714, ENST00000449260, 
ENST00000536427, ENST00000539511, 
ENST00000548493, ENST00000548747, 
ENST00000550447, ENST00000550464, 
ENST00000552882, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score26 X 17 X 12=53044 X 3 X 1=12
# samples 294
** MAII scorelog2(29/5304*10)=-4.19295597009765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BSG [Title/Abstract] AND PMEL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BSG(572701)-PMEL(56349647), # samples:1
Anticipated loss of major functional domain due to fusion event.BSG-PMEL 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.
BSG-PMEL 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
TgenePMEL

GO:0032438

melanosome organization

11694580


check buttonFusion gene breakpoints across BSG (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 PMEL (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
ChimerDB4SKCMTCGA-D3-A1Q9-06ABSGchr19

572701

+PMELchr12

56349647

-


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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)
ENST00000333511BSGchr19572701+ENST00000449260PMELchr1256349647-78213770672200
ENST00000333511BSGchr19572701+ENST00000552882PMELchr1256349647-76113770651193
ENST00000333511BSGchr19572701+ENST00000550464PMELchr1256349647-76013770651193
ENST00000333511BSGchr19572701+ENST00000548747PMELchr1256349647-76013770651193
ENST00000333511BSGchr19572701+ENST00000536427PMELchr1256349647-78113770672200
ENST00000333511BSGchr19572701+ENST00000539511PMELchr1256349647-76013770651193
ENST00000333511BSGchr19572701+ENST00000360714PMELchr1256349647-78113770672200
ENST00000333511BSGchr19572701+ENST00000548493PMELchr1256349647-76013770651193
ENST00000333511BSGchr19572701+ENST00000550447PMELchr1256349647-66613770651193
ENST00000353555BSGchr19572701+ENST00000449260PMELchr1256349647-76912457659200
ENST00000353555BSGchr19572701+ENST00000552882PMELchr1256349647-74812457638193
ENST00000353555BSGchr19572701+ENST00000550464PMELchr1256349647-74712457638193
ENST00000353555BSGchr19572701+ENST00000548747PMELchr1256349647-74712457638193
ENST00000353555BSGchr19572701+ENST00000536427PMELchr1256349647-76812457659200
ENST00000353555BSGchr19572701+ENST00000539511PMELchr1256349647-74712457638193
ENST00000353555BSGchr19572701+ENST00000360714PMELchr1256349647-76812457659200
ENST00000353555BSGchr19572701+ENST00000548493PMELchr1256349647-74712457638193
ENST00000353555BSGchr19572701+ENST00000550447PMELchr1256349647-65312457638193

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
ENST00000333511ENST00000449260BSGchr19572701+PMELchr1256349647-0.091893890.9081061
ENST00000333511ENST00000552882BSGchr19572701+PMELchr1256349647-0.0597358420.94026417
ENST00000333511ENST00000550464BSGchr19572701+PMELchr1256349647-0.0608278660.9391722
ENST00000333511ENST00000548747BSGchr19572701+PMELchr1256349647-0.0608278660.9391722
ENST00000333511ENST00000536427BSGchr19572701+PMELchr1256349647-0.093530060.90646994
ENST00000333511ENST00000539511BSGchr19572701+PMELchr1256349647-0.0608278660.9391722
ENST00000333511ENST00000360714BSGchr19572701+PMELchr1256349647-0.093530060.90646994
ENST00000333511ENST00000548493BSGchr19572701+PMELchr1256349647-0.0608278660.9391722
ENST00000333511ENST00000550447BSGchr19572701+PMELchr1256349647-0.0364195850.96358037
ENST00000353555ENST00000449260BSGchr19572701+PMELchr1256349647-0.097712640.90228736
ENST00000353555ENST00000552882BSGchr19572701+PMELchr1256349647-0.063627040.936373
ENST00000353555ENST00000550464BSGchr19572701+PMELchr1256349647-0.064794120.9352059
ENST00000353555ENST00000548747BSGchr19572701+PMELchr1256349647-0.064794120.9352059
ENST00000353555ENST00000536427BSGchr19572701+PMELchr1256349647-0.099283370.9007166
ENST00000353555ENST00000539511BSGchr19572701+PMELchr1256349647-0.064794120.9352059
ENST00000353555ENST00000360714BSGchr19572701+PMELchr1256349647-0.099283370.9007166
ENST00000353555ENST00000548493BSGchr19572701+PMELchr1256349647-0.064794120.9352059
ENST00000353555ENST00000550447BSGchr19572701+PMELchr1256349647-0.0352449270.96475506

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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

>10394_10394_1_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000360714_length(amino acids)=200AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPVPGILLTGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLP

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

>10394_10394_2_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000449260_length(amino acids)=200AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPVPGILLTGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLP

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

>10394_10394_3_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000536427_length(amino acids)=200AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPVPGILLTGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLP

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

>10394_10394_4_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000539511_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_5_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000548493_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_6_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000548747_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_7_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000550447_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_8_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000550464_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_9_BSG-PMEL_BSG_chr19_572701_ENST00000333511_PMEL_chr12_56349647_ENST00000552882_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_10_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000360714_length(amino acids)=200AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPVPGILLTGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLP

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

>10394_10394_11_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000449260_length(amino acids)=200AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPVPGILLTGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLP

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

>10394_10394_12_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000536427_length(amino acids)=200AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPVPGILLTGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLP

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

>10394_10394_13_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000539511_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_14_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000548493_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_15_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000548747_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_16_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000550447_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_17_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000550464_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

>10394_10394_18_BSG-PMEL_BSG_chr19_572701_ENST00000353555_PMEL_chr12_56349647_ENST00000552882_length(amino acids)=193AA_BP=21
MAAALFVLLGFALLGTHGASGAEGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQIL
KGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCP

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

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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/chr19:572701/chr12:56349647)
- 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
BSG

P35613

.
FUNCTION: [Isoform 1]: Essential for normal retinal maturation and development (By similarity). Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and NXNL1, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes (PubMed:21620857). {ECO:0000250|UniProtKB:P18572, ECO:0000269|PubMed:21620857, ECO:0000269|PubMed:25957687}.; FUNCTION: [Isoform 2]: Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells (PubMed:11943775, PubMed:11688976). Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:17127621, PubMed:21778275, PubMed:28666119). Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling (PubMed:25825981). Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells (PubMed:19837976). Plays a key role in regulating tumor growth, invasion, metastasis and neoangiogenesis by stimulating the production and release of extracellular matrix metalloproteinases and KDR/VEGFR2 by both tumor cells and stromal cells (fibroblasts and endothelial cells) (PubMed:12553375, PubMed:11992541, PubMed:15833850). {ECO:0000269|PubMed:11688976, ECO:0000269|PubMed:11943775, ECO:0000269|PubMed:11992541, ECO:0000269|PubMed:12553375, ECO:0000269|PubMed:15833850, ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:19837976, ECO:0000269|PubMed:21778275, ECO:0000269|PubMed:25825981, ECO:0000269|PubMed:28666119}.; FUNCTION: [Isoform 1]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7 and Dd2. {ECO:0000269|PubMed:22080952}.; FUNCTION: [Isoform 2]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7, Dd2, 7G8 and HB3 (PubMed:22080952, PubMed:26195724). Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte (PubMed:28409866). This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion (PubMed:28409866). {ECO:0000269|PubMed:22080952, ECO:0000269|PubMed:26195724, ECO:0000269|PubMed:28409866}.; FUNCTION: [Isoform 2]: (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA. {ECO:0000269|PubMed:15688292}.; FUNCTION: [Isoform 2]: (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA. {ECO:0000269|PubMed:11353871}.; FUNCTION: [Isoform 2]: (Microbial infection) First described as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it is not required for SARS-CoV-2 infection. {ECO:0000269|PubMed:33432067, ECO:0000303|PubMed:32307653}.; FUNCTION: [Isoform 2]: (Microbial infection) Acts as a receptor for measles virus. {ECO:0000269|PubMed:20147391}.; FUNCTION: [Isoform 2]: (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells. {ECO:0000269|PubMed:29739904}.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
TgenePMELchr19:572701chr12:56349647ENST00000539511510406_418404.3333333333333576.0RepeatNote=8
TgenePMELchr19:572701chr12:56349647ENST00000539511510419_431404.3333333333333576.0RepeatNote=9
TgenePMELchr19:572701chr12:56349647ENST00000539511510432_444404.3333333333333576.0RepeatNote=10
TgenePMELchr19:572701chr12:56349647ENST0000055046449406_418404.3333333333333576.0RepeatNote=8
TgenePMELchr19:572701chr12:56349647ENST0000055046449419_431404.3333333333333576.0RepeatNote=9
TgenePMELchr19:572701chr12:56349647ENST0000055046449432_444404.3333333333333576.0RepeatNote=10
TgenePMELchr19:572701chr12:56349647ENST00000449260611617_661490.3333333333333669.0Topological domainCytoplasmic
TgenePMELchr19:572701chr12:56349647ENST00000539511510470_595404.3333333333333576.0Topological domainLumenal
TgenePMELchr19:572701chr12:56349647ENST00000539511510617_661404.3333333333333576.0Topological domainCytoplasmic
TgenePMELchr19:572701chr12:56349647ENST00000548493712617_661490.3333333333333662.0Topological domainCytoplasmic
TgenePMELchr19:572701chr12:56349647ENST00000548747611617_661490.3333333333333662.0Topological domainCytoplasmic
TgenePMELchr19:572701chr12:56349647ENST0000055046449470_595404.3333333333333576.0Topological domainLumenal
TgenePMELchr19:572701chr12:56349647ENST0000055046449617_661404.3333333333333576.0Topological domainCytoplasmic
TgenePMELchr19:572701chr12:56349647ENST00000552882712617_661490.3333333333333662.0Topological domainCytoplasmic
TgenePMELchr19:572701chr12:56349647ENST00000449260611596_616490.3333333333333669.0TransmembraneHelical
TgenePMELchr19:572701chr12:56349647ENST00000539511510596_616404.3333333333333576.0TransmembraneHelical
TgenePMELchr19:572701chr12:56349647ENST00000548493712596_616490.3333333333333662.0TransmembraneHelical
TgenePMELchr19:572701chr12:56349647ENST00000548747611596_616490.3333333333333662.0TransmembraneHelical
TgenePMELchr19:572701chr12:56349647ENST0000055046449596_616404.3333333333333576.0TransmembraneHelical
TgenePMELchr19:572701chr12:56349647ENST00000552882712596_616490.3333333333333662.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBSGchr19:572701chr12:56349647ENST00000333511+19356_35922.333333333333332587.3333333333334Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr12:56349647ENST00000346916+17356_3590359.6666666666667Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr12:56349647ENST00000353555+18356_35922.333333333333332476.6666666666667Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr12:56349647ENST00000545507+18356_3590333.3333333333333Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr12:56349647ENST00000333511+19138_21922.333333333333332587.3333333333334DomainIg-like C2-type
HgeneBSGchr19:572701chr12:56349647ENST00000333511+19221_31522.333333333333332587.3333333333334DomainIg-like V-type
HgeneBSGchr19:572701chr12:56349647ENST00000333511+1937_12022.333333333333332587.3333333333334DomainIg-like
HgeneBSGchr19:572701chr12:56349647ENST00000346916+17138_2190359.6666666666667DomainIg-like C2-type
HgeneBSGchr19:572701chr12:56349647ENST00000346916+17221_3150359.6666666666667DomainIg-like V-type
HgeneBSGchr19:572701chr12:56349647ENST00000346916+1737_1200359.6666666666667DomainIg-like
HgeneBSGchr19:572701chr12:56349647ENST00000353555+18138_21922.333333333333332476.6666666666667DomainIg-like C2-type
HgeneBSGchr19:572701chr12:56349647ENST00000353555+18221_31522.333333333333332476.6666666666667DomainIg-like V-type
HgeneBSGchr19:572701chr12:56349647ENST00000353555+1837_12022.333333333333332476.6666666666667DomainIg-like
HgeneBSGchr19:572701chr12:56349647ENST00000545507+18138_2190333.3333333333333DomainIg-like C2-type
HgeneBSGchr19:572701chr12:56349647ENST00000545507+18221_3150333.3333333333333DomainIg-like V-type
HgeneBSGchr19:572701chr12:56349647ENST00000545507+1837_1200333.3333333333333DomainIg-like
HgeneBSGchr19:572701chr12:56349647ENST00000333511+19138_32322.333333333333332587.3333333333334Topological domainExtracellular
HgeneBSGchr19:572701chr12:56349647ENST00000333511+19345_38522.333333333333332587.3333333333334Topological domainCytoplasmic
HgeneBSGchr19:572701chr12:56349647ENST00000346916+17138_3230359.6666666666667Topological domainExtracellular
HgeneBSGchr19:572701chr12:56349647ENST00000346916+17345_3850359.6666666666667Topological domainCytoplasmic
HgeneBSGchr19:572701chr12:56349647ENST00000353555+18138_32322.333333333333332476.6666666666667Topological domainExtracellular
HgeneBSGchr19:572701chr12:56349647ENST00000353555+18345_38522.333333333333332476.6666666666667Topological domainCytoplasmic
HgeneBSGchr19:572701chr12:56349647ENST00000545507+18138_3230333.3333333333333Topological domainExtracellular
HgeneBSGchr19:572701chr12:56349647ENST00000545507+18345_3850333.3333333333333Topological domainCytoplasmic
HgeneBSGchr19:572701chr12:56349647ENST00000333511+19324_34422.333333333333332587.3333333333334TransmembraneHelical
HgeneBSGchr19:572701chr12:56349647ENST00000346916+17324_3440359.6666666666667TransmembraneHelical
HgeneBSGchr19:572701chr12:56349647ENST00000353555+18324_34422.333333333333332476.6666666666667TransmembraneHelical
HgeneBSGchr19:572701chr12:56349647ENST00000545507+18324_3440333.3333333333333TransmembraneHelical
TgenePMELchr19:572701chr12:56349647ENST00000449260611255_292490.3333333333333669.0DomainPKD
TgenePMELchr19:572701chr12:56349647ENST00000539511510255_292404.3333333333333576.0DomainPKD
TgenePMELchr19:572701chr12:56349647ENST00000548493712255_292490.3333333333333662.0DomainPKD
TgenePMELchr19:572701chr12:56349647ENST00000548747611255_292490.3333333333333662.0DomainPKD
TgenePMELchr19:572701chr12:56349647ENST0000055046449255_292404.3333333333333576.0DomainPKD
TgenePMELchr19:572701chr12:56349647ENST00000552882712255_292490.3333333333333662.0DomainPKD
TgenePMELchr19:572701chr12:56349647ENST00000449260611315_444490.3333333333333669.0RegionNote=10 X 13 AA approximate tandem repeats%2C RPT domain
TgenePMELchr19:572701chr12:56349647ENST00000539511510315_444404.3333333333333576.0RegionNote=10 X 13 AA approximate tandem repeats%2C RPT domain
TgenePMELchr19:572701chr12:56349647ENST00000548493712315_444490.3333333333333662.0RegionNote=10 X 13 AA approximate tandem repeats%2C RPT domain
TgenePMELchr19:572701chr12:56349647ENST00000548747611315_444490.3333333333333662.0RegionNote=10 X 13 AA approximate tandem repeats%2C RPT domain
TgenePMELchr19:572701chr12:56349647ENST0000055046449315_444404.3333333333333576.0RegionNote=10 X 13 AA approximate tandem repeats%2C RPT domain
TgenePMELchr19:572701chr12:56349647ENST00000552882712315_444490.3333333333333662.0RegionNote=10 X 13 AA approximate tandem repeats%2C RPT domain
TgenePMELchr19:572701chr12:56349647ENST00000449260611315_327490.3333333333333669.0RepeatNote=1
TgenePMELchr19:572701chr12:56349647ENST00000449260611328_340490.3333333333333669.0RepeatNote=2
TgenePMELchr19:572701chr12:56349647ENST00000449260611341_353490.3333333333333669.0RepeatNote=3
TgenePMELchr19:572701chr12:56349647ENST00000449260611354_366490.3333333333333669.0RepeatNote=4
TgenePMELchr19:572701chr12:56349647ENST00000449260611367_379490.3333333333333669.0RepeatNote=5
TgenePMELchr19:572701chr12:56349647ENST00000449260611380_392490.3333333333333669.0RepeatNote=6
TgenePMELchr19:572701chr12:56349647ENST00000449260611393_405490.3333333333333669.0RepeatNote=7
TgenePMELchr19:572701chr12:56349647ENST00000449260611406_418490.3333333333333669.0RepeatNote=8
TgenePMELchr19:572701chr12:56349647ENST00000449260611419_431490.3333333333333669.0RepeatNote=9
TgenePMELchr19:572701chr12:56349647ENST00000449260611432_444490.3333333333333669.0RepeatNote=10
TgenePMELchr19:572701chr12:56349647ENST00000539511510315_327404.3333333333333576.0RepeatNote=1
TgenePMELchr19:572701chr12:56349647ENST00000539511510328_340404.3333333333333576.0RepeatNote=2
TgenePMELchr19:572701chr12:56349647ENST00000539511510341_353404.3333333333333576.0RepeatNote=3
TgenePMELchr19:572701chr12:56349647ENST00000539511510354_366404.3333333333333576.0RepeatNote=4
TgenePMELchr19:572701chr12:56349647ENST00000539511510367_379404.3333333333333576.0RepeatNote=5
TgenePMELchr19:572701chr12:56349647ENST00000539511510380_392404.3333333333333576.0RepeatNote=6
TgenePMELchr19:572701chr12:56349647ENST00000539511510393_405404.3333333333333576.0RepeatNote=7
TgenePMELchr19:572701chr12:56349647ENST00000548493712315_327490.3333333333333662.0RepeatNote=1
TgenePMELchr19:572701chr12:56349647ENST00000548493712328_340490.3333333333333662.0RepeatNote=2
TgenePMELchr19:572701chr12:56349647ENST00000548493712341_353490.3333333333333662.0RepeatNote=3
TgenePMELchr19:572701chr12:56349647ENST00000548493712354_366490.3333333333333662.0RepeatNote=4
TgenePMELchr19:572701chr12:56349647ENST00000548493712367_379490.3333333333333662.0RepeatNote=5
TgenePMELchr19:572701chr12:56349647ENST00000548493712380_392490.3333333333333662.0RepeatNote=6
TgenePMELchr19:572701chr12:56349647ENST00000548493712393_405490.3333333333333662.0RepeatNote=7
TgenePMELchr19:572701chr12:56349647ENST00000548493712406_418490.3333333333333662.0RepeatNote=8
TgenePMELchr19:572701chr12:56349647ENST00000548493712419_431490.3333333333333662.0RepeatNote=9
TgenePMELchr19:572701chr12:56349647ENST00000548493712432_444490.3333333333333662.0RepeatNote=10
TgenePMELchr19:572701chr12:56349647ENST00000548747611315_327490.3333333333333662.0RepeatNote=1
TgenePMELchr19:572701chr12:56349647ENST00000548747611328_340490.3333333333333662.0RepeatNote=2
TgenePMELchr19:572701chr12:56349647ENST00000548747611341_353490.3333333333333662.0RepeatNote=3
TgenePMELchr19:572701chr12:56349647ENST00000548747611354_366490.3333333333333662.0RepeatNote=4
TgenePMELchr19:572701chr12:56349647ENST00000548747611367_379490.3333333333333662.0RepeatNote=5
TgenePMELchr19:572701chr12:56349647ENST00000548747611380_392490.3333333333333662.0RepeatNote=6
TgenePMELchr19:572701chr12:56349647ENST00000548747611393_405490.3333333333333662.0RepeatNote=7
TgenePMELchr19:572701chr12:56349647ENST00000548747611406_418490.3333333333333662.0RepeatNote=8
TgenePMELchr19:572701chr12:56349647ENST00000548747611419_431490.3333333333333662.0RepeatNote=9
TgenePMELchr19:572701chr12:56349647ENST00000548747611432_444490.3333333333333662.0RepeatNote=10
TgenePMELchr19:572701chr12:56349647ENST0000055046449315_327404.3333333333333576.0RepeatNote=1
TgenePMELchr19:572701chr12:56349647ENST0000055046449328_340404.3333333333333576.0RepeatNote=2
TgenePMELchr19:572701chr12:56349647ENST0000055046449341_353404.3333333333333576.0RepeatNote=3
TgenePMELchr19:572701chr12:56349647ENST0000055046449354_366404.3333333333333576.0RepeatNote=4
TgenePMELchr19:572701chr12:56349647ENST0000055046449367_379404.3333333333333576.0RepeatNote=5
TgenePMELchr19:572701chr12:56349647ENST0000055046449380_392404.3333333333333576.0RepeatNote=6
TgenePMELchr19:572701chr12:56349647ENST0000055046449393_405404.3333333333333576.0RepeatNote=7
TgenePMELchr19:572701chr12:56349647ENST00000552882712315_327490.3333333333333662.0RepeatNote=1
TgenePMELchr19:572701chr12:56349647ENST00000552882712328_340490.3333333333333662.0RepeatNote=2
TgenePMELchr19:572701chr12:56349647ENST00000552882712341_353490.3333333333333662.0RepeatNote=3
TgenePMELchr19:572701chr12:56349647ENST00000552882712354_366490.3333333333333662.0RepeatNote=4
TgenePMELchr19:572701chr12:56349647ENST00000552882712367_379490.3333333333333662.0RepeatNote=5
TgenePMELchr19:572701chr12:56349647ENST00000552882712380_392490.3333333333333662.0RepeatNote=6
TgenePMELchr19:572701chr12:56349647ENST00000552882712393_405490.3333333333333662.0RepeatNote=7
TgenePMELchr19:572701chr12:56349647ENST00000552882712406_418490.3333333333333662.0RepeatNote=8
TgenePMELchr19:572701chr12:56349647ENST00000552882712419_431490.3333333333333662.0RepeatNote=9
TgenePMELchr19:572701chr12:56349647ENST00000552882712432_444490.3333333333333662.0RepeatNote=10
TgenePMELchr19:572701chr12:56349647ENST00000449260611470_595490.3333333333333669.0Topological domainLumenal
TgenePMELchr19:572701chr12:56349647ENST00000548493712470_595490.3333333333333662.0Topological domainLumenal
TgenePMELchr19:572701chr12:56349647ENST00000548747611470_595490.3333333333333662.0Topological domainLumenal
TgenePMELchr19:572701chr12:56349647ENST00000552882712470_595490.3333333333333662.0Topological domainLumenal


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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
BSG
PMEL


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 BSG-PMEL


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 BSG-PMEL


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