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Fusion Protein:RAP1GDS1-SMARCA5 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: RAP1GDS1-SMARCA5 | FusionPDB ID: 72187 | FusionGDB2.0 ID: 72187 | Hgene | Tgene | Gene symbol | RAP1GDS1 | SMARCA5 | Gene ID | 5910 | 8467 |
Gene name | Rap1 GTPase-GDP dissociation stimulator 1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 | |
Synonyms | GDS1|SmgGDS | ISWI|SNF2H|WCRF135|hISWI|hSNF2H | |
Cytomap | 4q23 | 4q31.21 | |
Type of gene | protein-coding | protein-coding | |
Description | rap1 GTPase-GDP dissociation stimulator 1RAP1, GTP-GDP dissociation stimulator 1SMG GDS proteinSMG P21 stimulatory GDP/GTP exchange proteinexchange factor smgGDS | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5sucrose nonfermenting protein 2 homologsucrose nonfermenting-like 5 | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000264572, ENST00000339360, ENST00000380158, ENST00000408900, ENST00000408927, ENST00000453712, ENST00000512857, | ENST00000283131, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 9 X 5=495 | 4 X 4 X 4=64 |
# samples | 11 | 4 | |
** MAII score | log2(11/495*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: RAP1GDS1 [Title/Abstract] AND SMARCA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RAP1GDS1(99342545)-SMARCA5(144474271), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | RAP1GDS1-SMARCA5 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. RAP1GDS1-SMARCA5 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SMARCA5 | GO:0006334 | nucleosome assembly | 12972596 |
Tgene | SMARCA5 | GO:0006338 | chromatin remodeling | 9836642 |
Tgene | SMARCA5 | GO:0006352 | DNA-templated transcription, initiation | 9836642 |
Tgene | SMARCA5 | GO:0016584 | nucleosome positioning | 9836642 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | THCA | TCGA-EL-A3ZN | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000380158 | RAP1GDS1 | chr4 | 99342545 | + | ENST00000283131 | SMARCA5 | chr4 | 144474271 | + | 5813 | 1445 | 149 | 1510 | 453 |
ENST00000264572 | RAP1GDS1 | chr4 | 99342545 | + | ENST00000283131 | SMARCA5 | chr4 | 144474271 | + | 5670 | 1302 | 135 | 1367 | 410 |
ENST00000408927 | RAP1GDS1 | chr4 | 99342545 | + | ENST00000283131 | SMARCA5 | chr4 | 144474271 | + | 5921 | 1553 | 113 | 1618 | 501 |
ENST00000453712 | RAP1GDS1 | chr4 | 99342545 | + | ENST00000283131 | SMARCA5 | chr4 | 144474271 | + | 5905 | 1537 | 97 | 1602 | 501 |
ENST00000339360 | RAP1GDS1 | chr4 | 99342545 | + | ENST00000283131 | SMARCA5 | chr4 | 144474271 | + | 5859 | 1491 | 48 | 1556 | 502 |
ENST00000408900 | RAP1GDS1 | chr4 | 99342545 | + | ENST00000283131 | SMARCA5 | chr4 | 144474271 | + | 5709 | 1341 | 48 | 1406 | 452 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000380158 | ENST00000283131 | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + | 0.000387553 | 0.9996125 |
ENST00000264572 | ENST00000283131 | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + | 0.000231467 | 0.99976856 |
ENST00000408927 | ENST00000283131 | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + | 0.000249592 | 0.99975044 |
ENST00000453712 | ENST00000283131 | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + | 0.000229277 | 0.9997707 |
ENST00000339360 | ENST00000283131 | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + | 0.000253853 | 0.99974614 |
ENST00000408900 | ENST00000283131 | RAP1GDS1 | chr4 | 99342545 | + | SMARCA5 | chr4 | 144474271 | + | 0.000214911 | 0.9997851 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >72187_72187_1_RAP1GDS1-SMARCA5_RAP1GDS1_chr4_99342545_ENST00000264572_SMARCA5_chr4_144474271_ENST00000283131_length(amino acids)=410AA_BP=389 MADNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAG LISPLVQLLNSKDQEVLLQTGRALGNICYDSQSSKEQFASTNIAEELVKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVECLL EIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVEK LMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVLKFLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVERLV -------------------------------------------------------------- >72187_72187_2_RAP1GDS1-SMARCA5_RAP1GDS1_chr4_99342545_ENST00000339360_SMARCA5_chr4_144474271_ENST00000283131_length(amino acids)=502AA_BP=481 MADNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAG LISPLVQLLNSKDQEVLLQTGRALGNICYDSHEGRSAVDQAGGAQIVIDHLRSLCSITDPANEKLLTVFCGMLMNYSNENDSLQAQLINM GVIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIAEELVKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVEC LLEIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIV EKLMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVLKFLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVER -------------------------------------------------------------- >72187_72187_3_RAP1GDS1-SMARCA5_RAP1GDS1_chr4_99342545_ENST00000380158_SMARCA5_chr4_144474271_ENST00000283131_length(amino acids)=453AA_BP=432 MADNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAG LISPLVQLLNSKDQEVLLQTGRALGNICYDSHSLQAQLINMGVIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIAEEL VKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVECLLEIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVF QRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVEKLMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVL KFLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVERLVEWCEAKDHAGVMGESNRLLSALIRHSKSKTQKRKMDGAPDGRGRKKK -------------------------------------------------------------- >72187_72187_4_RAP1GDS1-SMARCA5_RAP1GDS1_chr4_99342545_ENST00000408900_SMARCA5_chr4_144474271_ENST00000283131_length(amino acids)=452AA_BP=431 MDNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAGL ISPLVQLLNSKDQEVLLQTGRALGNICYDSHSLQAQLINMGVIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIAEELV KLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVECLLEIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVFQ RVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVEKLMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVLK FLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVERLVEWCEAKDHAGVMGESNRLLSALIRHSKSKTQKRKMDGAPDGRGRKKKL -------------------------------------------------------------- >72187_72187_5_RAP1GDS1-SMARCA5_RAP1GDS1_chr4_99342545_ENST00000408927_SMARCA5_chr4_144474271_ENST00000283131_length(amino acids)=501AA_BP=480 MDNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAGL ISPLVQLLNSKDQEVLLQTGRALGNICYDSHEGRSAVDQAGGAQIVIDHLRSLCSITDPANEKLLTVFCGMLMNYSNENDSLQAQLINMG VIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIAEELVKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVECL LEIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVE KLMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVLKFLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVERL -------------------------------------------------------------- >72187_72187_6_RAP1GDS1-SMARCA5_RAP1GDS1_chr4_99342545_ENST00000453712_SMARCA5_chr4_144474271_ENST00000283131_length(amino acids)=501AA_BP=480 MADNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAG LISPLVQLLNSKDQEVLLQTGRALGNICYDSHEGRSAVDQAGGAQIVIDHLRSLCSITDPANEKLLTVFCGMLMNYSNENDSLQAQLINM GVIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIAEELVKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVEC LLEIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIV EKLMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVLKFLKSEMPPVQFKLLGTLRMLIDAQEAAEQLGKNVKLVERL -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr4:99342545/chr4:144474271) - 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. |
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Hgene | Tgene |
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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: 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. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000264572 | + | 10 | 13 | 169_211 | 389.0 | 517.0 | Repeat | Note=ARM 2 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000264572 | + | 10 | 13 | 346_390 | 389.0 | 517.0 | Repeat | Note=ARM 3 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000264572 | + | 10 | 13 | 77_118 | 389.0 | 517.0 | Repeat | Note=ARM 1 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000339360 | + | 12 | 15 | 169_211 | 481.0 | 609.0 | Repeat | Note=ARM 2 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000339360 | + | 12 | 15 | 346_390 | 481.0 | 609.0 | Repeat | Note=ARM 3 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000339360 | + | 12 | 15 | 391_431 | 481.0 | 609.0 | Repeat | Note=ARM 4 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000339360 | + | 12 | 15 | 77_118 | 481.0 | 609.0 | Repeat | Note=ARM 1 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000380158 | + | 11 | 14 | 169_211 | 432.0 | 560.0 | Repeat | Note=ARM 2 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000380158 | + | 11 | 14 | 346_390 | 432.0 | 560.0 | Repeat | Note=ARM 3 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000380158 | + | 11 | 14 | 391_431 | 432.0 | 560.0 | Repeat | Note=ARM 4 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000380158 | + | 11 | 14 | 77_118 | 432.0 | 560.0 | Repeat | Note=ARM 1 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408900 | + | 11 | 14 | 169_211 | 431.0 | 559.0 | Repeat | Note=ARM 2 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408900 | + | 11 | 14 | 346_390 | 431.0 | 559.0 | Repeat | Note=ARM 3 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408900 | + | 11 | 14 | 391_431 | 431.0 | 559.0 | Repeat | Note=ARM 4 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408900 | + | 11 | 14 | 77_118 | 431.0 | 559.0 | Repeat | Note=ARM 1 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408927 | + | 12 | 15 | 169_211 | 480.0 | 608.0 | Repeat | Note=ARM 2 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408927 | + | 12 | 15 | 346_390 | 480.0 | 608.0 | Repeat | Note=ARM 3 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408927 | + | 12 | 15 | 391_431 | 480.0 | 608.0 | Repeat | Note=ARM 4 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408927 | + | 12 | 15 | 77_118 | 480.0 | 608.0 | Repeat | Note=ARM 1 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000453712 | + | 12 | 15 | 169_211 | 480.0 | 608.0 | Repeat | Note=ARM 2 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000453712 | + | 12 | 15 | 346_390 | 480.0 | 608.0 | Repeat | Note=ARM 3 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000453712 | + | 12 | 15 | 391_431 | 480.0 | 608.0 | Repeat | Note=ARM 4 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000453712 | + | 12 | 15 | 77_118 | 480.0 | 608.0 | Repeat | Note=ARM 1 |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000264572 | + | 10 | 13 | 391_431 | 389.0 | 517.0 | Repeat | Note=ARM 4 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000264572 | + | 10 | 13 | 479_519 | 389.0 | 517.0 | Repeat | Note=ARM 5 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000339360 | + | 12 | 15 | 479_519 | 481.0 | 609.0 | Repeat | Note=ARM 5 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000380158 | + | 11 | 14 | 479_519 | 432.0 | 560.0 | Repeat | Note=ARM 5 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408900 | + | 11 | 14 | 479_519 | 431.0 | 559.0 | Repeat | Note=ARM 5 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000408927 | + | 12 | 15 | 479_519 | 480.0 | 608.0 | Repeat | Note=ARM 5 |
Hgene | RAP1GDS1 | chr4:99342545 | chr4:144474271 | ENST00000453712 | + | 12 | 15 | 479_519 | 480.0 | 608.0 | Repeat | Note=ARM 5 |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 7_13 | 1031.0 | 1053.0 | Compositional bias | Note=Poly-Pro | |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 192_357 | 1031.0 | 1053.0 | Domain | Helicase ATP-binding | |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 487_638 | 1031.0 | 1053.0 | Domain | Helicase C-terminal | |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 840_892 | 1031.0 | 1053.0 | Domain | SANT 1 | |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 943_1007 | 1031.0 | 1053.0 | Domain | SANT 2 | |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 308_311 | 1031.0 | 1053.0 | Motif | Note=DEAH box | |
Tgene | SMARCA5 | chr4:99342545 | chr4:144474271 | ENST00000283131 | 22 | 24 | 205_212 | 1031.0 | 1053.0 | Nucleotide binding | ATP |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
RAP1GDS1 | |
SMARCA5 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to RAP1GDS1-SMARCA5 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to RAP1GDS1-SMARCA5 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |