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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:COL4A5-RNF128 (FusionGDB2 ID:18389)

Fusion Gene Summary for COL4A5-RNF128

check button Fusion gene summary
Fusion gene informationFusion gene name: COL4A5-RNF128
Fusion gene ID: 18389
HgeneTgene
Gene symbol

COL4A5

RNF128

Gene ID

1287

79589

Gene namecollagen type IV alpha 5 chainring finger protein 128
SynonymsASLN|ATS|ATS1|CA54GRAIL
Cytomap

Xq22.3

Xq22.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-5(IV) chaincollagen IV, alpha-5 polypeptidecollagen of basement membrane, alpha-5 chaincollagen, type IV, alpha 5dA149D17.3dA24A23.1E3 ubiquitin-protein ligase RNF128RING-type E3 ubiquitin transferase RNF128gene related to anergy in lymphocytes proteinring finger protein 128, E3 ubiquitin protein ligase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000328300, ENST00000361603, 
ENST00000477429, 
ENST00000324342, 
ENST00000255499, 
Fusion gene scores* DoF score12 X 9 X 6=6488 X 6 X 9=432
# samples 1210
** MAII scorelog2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/432*10)=-2.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL4A5 [Title/Abstract] AND RNF128 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL4A5(107829977)-RNF128(106016143), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

check buttonFusion gene breakpoints across COL4A5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RNF128 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LUSCTCGA-77-A5GH-01ACOL4A5chrX

107829977

-RNF128chrX

106016143

+


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Fusion Gene ORF analysis for COL4A5-RNF128

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
In-frameENST00000328300ENST00000324342COL4A5chrX

107829977

-RNF128chrX

106016143

+
In-frameENST00000328300ENST00000255499COL4A5chrX

107829977

-RNF128chrX

106016143

+
In-frameENST00000361603ENST00000324342COL4A5chrX

107829977

-RNF128chrX

106016143

+
In-frameENST00000361603ENST00000255499COL4A5chrX

107829977

-RNF128chrX

106016143

+
intron-3CDSENST00000477429ENST00000324342COL4A5chrX

107829977

-RNF128chrX

106016143

+
intron-3CDSENST00000477429ENST00000255499COL4A5chrX

107829977

-RNF128chrX

106016143

+

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)
ENST00000328300COL4A5chrX107829977-ENST00000324342RNF128chrX106016143+349214092442211655
ENST00000328300COL4A5chrX107829977-ENST00000255499RNF128chrX106016143+349214092442211655
ENST00000361603COL4A5chrX107829977-ENST00000324342RNF128chrX106016143+349214092442211655
ENST00000361603COL4A5chrX107829977-ENST00000255499RNF128chrX106016143+349214092442211655

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
ENST00000328300ENST00000324342COL4A5chrX107829977-RNF128chrX106016143+0.0001503610.99984956
ENST00000328300ENST00000255499COL4A5chrX107829977-RNF128chrX106016143+0.0001503610.99984956
ENST00000361603ENST00000324342COL4A5chrX107829977-RNF128chrX106016143+0.0001503610.99984956
ENST00000361603ENST00000255499COL4A5chrX107829977-RNF128chrX106016143+0.0001503610.99984956

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Fusion Genomic Features for COL4A5-RNF128


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)

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.

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.

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Fusion Protein Features for COL4A5-RNF128


check button Go to

FGviewer for the breakpoints of chrX:107829977-chrX:106016143

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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.

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
HgeneCOL4A5chrX:107829977chrX:106016143ENST00000328300-195327_41388.33333333333331692.0RegionNote=Nonhelical region (NC2)
HgeneCOL4A5chrX:107829977chrX:106016143ENST00000361603-195127_41388.33333333333331686.0RegionNote=Nonhelical region (NC2)
TgeneRNF128chrX:107829977chrX:106016143ENST0000025549907208_228161.33333333333334429.0TransmembraneHelical
TgeneRNF128chrX:107829977chrX:106016143ENST0000032434207208_228135.33333333333334403.0TransmembraneHelical
TgeneRNF128chrX:107829977chrX:106016143ENST0000025549907277_318161.33333333333334429.0Zinc fingerRING-type%3B atypical
TgeneRNF128chrX:107829977chrX:106016143ENST0000032434207277_318135.33333333333334403.0Zinc fingerRING-type%3B atypical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL4A5chrX:107829977chrX:106016143ENST00000328300-19531461_1685388.33333333333331692.0DomainCollagen IV NC1
HgeneCOL4A5chrX:107829977chrX:106016143ENST00000361603-19511461_1685388.33333333333331686.0DomainCollagen IV NC1
HgeneCOL4A5chrX:107829977chrX:106016143ENST00000328300-195342_1456388.33333333333331692.0RegionNote=Triple-helical region
HgeneCOL4A5chrX:107829977chrX:106016143ENST00000361603-195142_1456388.33333333333331686.0RegionNote=Triple-helical region
TgeneRNF128chrX:107829977chrX:106016143ENST000002554990775_183161.33333333333334429.0DomainNote=PA
TgeneRNF128chrX:107829977chrX:106016143ENST000003243420775_183135.33333333333334403.0DomainNote=PA


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Fusion Gene Sequence for COL4A5-RNF128


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.
>In-frame_ENST00000328300_ENST00000324342_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(transcript)=3492nt_BP=1409nt
AGAAGGGAAAAGTTCTCCTGAGAGACCGGCTTTGGGGAGGGGAGGGGGGAAGGAAGAGTAGCTCCTTCTTCTTCTTCTTTTTTTTTTCTT
CCACTCTTAAAAAGCTTCTTTCTCTTCACCCAAGCCTCACTGTCCCTCTCCGGCTCTAGCTCTCTCCATATAAACCCTCAAGATTATGTC
AATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGC
TGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGGGGGCAGCCTGCAGAGGCTGCGGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGA
CTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGG
GCCTCCGGGGCCTCGGGGACAAAAGGGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGAGGTCCTCCTGGACTTCCTGG
ATTTCCAGGGACACCAGGTCTTCCTGGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGTATTCCCGGATGCAATGGAACCAAGGG
AGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGGACCCCCTGGGATCCCAGGTATGAAGGGTGAACCAGG
TAGTATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGGCCTACCTGGTCCCACTGG
TATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGGGAATATGGG
CTTAAATTTCCAGGGACCCAAAGGTGAAAAAGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
ACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCAGG
TCCCCCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACC
AGGAATTCCTGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGGCCAAAAAGGTGACACTGGCCCACC
TGGACCTCCTGGACTTGTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGA
AAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGTGCAGTAGACATTGTTGCAATCATGATCGG
CAATCTGAAAGGCACAAAAATTCTGCAATCTATTCAAAGAGGCATACAAGTGACAATGGTCATAGAAGTAGGGAAAAAACATGGCCCTTG
GGTGAATCACTATTCAATTTTTTTCGTTTCTGTGTCCTTTTTTATTATTACGGCGGCAACTGTGGGCTATTTTATCTTTTATTCTGCTCG
AAGGCTACGGAATGCAAGAGCTCAAAGCAGGAAGCAGAGGCAATTAAAGGCAGATGCTAAAAAAGCTATTGGAAGGCTTCAACTACGCAC
ACTGAAACAAGGAGACAAGGAAATTGGCCCTGATGGAGATAGTTGTGCTGTGTGCATTGAATTGTATAAACCAAATGATTTGGTACGCAT
CTTAACGTGCAACCATATTTTCCATAAGACATGTGTTGACCCATGGCTGTTAGAACACAGGACTTGCCCCATGTGCAAATGTGACATACT
CAAAGCTTTGGGAATTGAGGTGGATGTTGAAGATGGATCAGTGTCTTTACAAGTCCCTGTATCCAATGAAATATCTAATAGTGCCTCCTC
CCATGAAGAGGATAATCGCAGCGAGACCGCATCATCTGGATATGCTTCAGTACAGGGAACAGATGAACCGCCTCTGGAGGAACACGTGCA
GTCAACAAATGAAAGTCTACAGCTGGTAAACCATGAAGCAAATTCTGTGGCAGTGGATGTTATTCCTCATGTTGACAACCCAACCTTTGA
AGAAGACGAAACTCCTAATCAAGAGACTGCTGTTCGAGAAATTAAATCTTAAAATCTGTGTAAATAGAAAACTTGAACCATTAGTAATAA
CAGAACTGCCAATCAGGGCCTAGTTTCTATTAATAAATTGGATAAATTTAATAAAATAAGAGTGATACTGAAAGTGCTCAGATGACTAAT
ATTATGCTATAGTTAAATGGCTTAAAATATTTAACCTGTTAACTTTTTTCCACAAACTCATTATAATATTTTTCATAGGCAAGTTTCCTC
TCAGTAGTGATAACAACATTTTTAGACATTCAAAACTGTCTTCAAGAAGTCACGTTTTTCATTTATAACAATTTTCTTATAAAAACATGT
TGCTTTTAAAATGTGGAGTAGCTGTAATCACTTTATTTTATGATAGTATCTTAATGAAAAATACTACTTCTTTAGCTTGGGCTACATGTG
TCAGGGTTTTTCTCCAGGTGCTTATATTGATCTGGAATTGTAATGTAAAAAGCAATGCAAACTTAGGCGAGTACTTCTTGAAATGTCTAT
TTAAGCTGCTTTAAGTTAATAGAAAAGATTAAAGCAAAATATTCATTTTTACTTTTTCTTATTTTTAAAATTAGGCTGAATGTACTTCAT
GTGATTTGTCAACCATAGTTTATCAGAGATTATGGACTTAATTGATTGGTATATTAGTGACATCAACTTGACACAAGATTAGACAAAAAA
TTCCTTACAAAAATACTGTGTAACTATTTCTCAAACTTGTGGGATTTTTCAAAAGCTCAGTATATGAATCATCATACTGTTTGAAATTGC
TAATGACAGAGTAAGTAACACTAATATTGGTCATTGATCTTCGTTCATGAATTAGTCTACAGAAAAAAAATGTTCTGTAAAATTAGTCTG
TTGAAAATGTTTTCCAAACAATGTTACTTTGAAAATTGAGTTTATGTTTGACCTAAATGGGCTAAAATTACATTAGATAAACTAAAATTC
TGTCCGTGTAACTATAAATTTTGTGAATGCATTTTCCTGGTGTTTGAAAAAGAAGGGGGGGAGAATTCCAGGTGCCTTAATATAAAGTTT
GAAGCTTCATCCACCAAAGTTAAATAGAGCTATTTAAAAATGCACTTTATTTGTACTCTGTGTGGCTTTTGTTTTAGAATTTTGTTCAAA
TTATAGCAGAATTTAGGCAAAAATAAAACAGACATGTATTTTTGTTTGCTGAATGGATGAAACCATTGCATTCTTGTACACTGATTTGAA

>In-frame_ENST00000328300_ENST00000324342_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(amino acids)=655AA_start in transcript=244_stop in transcript=2211
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKG
IRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPG
PPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAVDIVAIMIGNLKGTKILQSIQRGIQVTMVIEVGKKHGPWVNHYSIFFVSVSFFIITAATV
GYFIFYSARRLRNARAQSRKQRQLKADAKKAIGRLQLRTLKQGDKEIGPDGDSCAVCIELYKPNDLVRILTCNHIFHKTCVDPWLLEHRT
CPMCKCDILKALGIEVDVEDGSVSLQVPVSNEISNSASSHEEDNRSETASSGYASVQGTDEPPLEEHVQSTNESLQLVNHEANSVAVDVI

--------------------------------------------------------------
>In-frame_ENST00000328300_ENST00000255499_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(transcript)=3492nt_BP=1409nt
AGAAGGGAAAAGTTCTCCTGAGAGACCGGCTTTGGGGAGGGGAGGGGGGAAGGAAGAGTAGCTCCTTCTTCTTCTTCTTTTTTTTTTCTT
CCACTCTTAAAAAGCTTCTTTCTCTTCACCCAAGCCTCACTGTCCCTCTCCGGCTCTAGCTCTCTCCATATAAACCCTCAAGATTATGTC
AATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGC
TGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGGGGGCAGCCTGCAGAGGCTGCGGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGA
CTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGG
GCCTCCGGGGCCTCGGGGACAAAAGGGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGAGGTCCTCCTGGACTTCCTGG
ATTTCCAGGGACACCAGGTCTTCCTGGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGTATTCCCGGATGCAATGGAACCAAGGG
AGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGGACCCCCTGGGATCCCAGGTATGAAGGGTGAACCAGG
TAGTATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGGCCTACCTGGTCCCACTGG
TATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGGGAATATGGG
CTTAAATTTCCAGGGACCCAAAGGTGAAAAAGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
ACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCAGG
TCCCCCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACC
AGGAATTCCTGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGGCCAAAAAGGTGACACTGGCCCACC
TGGACCTCCTGGACTTGTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGA
AAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGTGCAGTAGACATTGTTGCAATCATGATCGG
CAATCTGAAAGGCACAAAAATTCTGCAATCTATTCAAAGAGGCATACAAGTGACAATGGTCATAGAAGTAGGGAAAAAACATGGCCCTTG
GGTGAATCACTATTCAATTTTTTTCGTTTCTGTGTCCTTTTTTATTATTACGGCGGCAACTGTGGGCTATTTTATCTTTTATTCTGCTCG
AAGGCTACGGAATGCAAGAGCTCAAAGCAGGAAGCAGAGGCAATTAAAGGCAGATGCTAAAAAAGCTATTGGAAGGCTTCAACTACGCAC
ACTGAAACAAGGAGACAAGGAAATTGGCCCTGATGGAGATAGTTGTGCTGTGTGCATTGAATTGTATAAACCAAATGATTTGGTACGCAT
CTTAACGTGCAACCATATTTTCCATAAGACATGTGTTGACCCATGGCTGTTAGAACACAGGACTTGCCCCATGTGCAAATGTGACATACT
CAAAGCTTTGGGAATTGAGGTGGATGTTGAAGATGGATCAGTGTCTTTACAAGTCCCTGTATCCAATGAAATATCTAATAGTGCCTCCTC
CCATGAAGAGGATAATCGCAGCGAGACCGCATCATCTGGATATGCTTCAGTACAGGGAACAGATGAACCGCCTCTGGAGGAACACGTGCA
GTCAACAAATGAAAGTCTACAGCTGGTAAACCATGAAGCAAATTCTGTGGCAGTGGATGTTATTCCTCATGTTGACAACCCAACCTTTGA
AGAAGACGAAACTCCTAATCAAGAGACTGCTGTTCGAGAAATTAAATCTTAAAATCTGTGTAAATAGAAAACTTGAACCATTAGTAATAA
CAGAACTGCCAATCAGGGCCTAGTTTCTATTAATAAATTGGATAAATTTAATAAAATAAGAGTGATACTGAAAGTGCTCAGATGACTAAT
ATTATGCTATAGTTAAATGGCTTAAAATATTTAACCTGTTAACTTTTTTCCACAAACTCATTATAATATTTTTCATAGGCAAGTTTCCTC
TCAGTAGTGATAACAACATTTTTAGACATTCAAAACTGTCTTCAAGAAGTCACGTTTTTCATTTATAACAATTTTCTTATAAAAACATGT
TGCTTTTAAAATGTGGAGTAGCTGTAATCACTTTATTTTATGATAGTATCTTAATGAAAAATACTACTTCTTTAGCTTGGGCTACATGTG
TCAGGGTTTTTCTCCAGGTGCTTATATTGATCTGGAATTGTAATGTAAAAAGCAATGCAAACTTAGGCGAGTACTTCTTGAAATGTCTAT
TTAAGCTGCTTTAAGTTAATAGAAAAGATTAAAGCAAAATATTCATTTTTACTTTTTCTTATTTTTAAAATTAGGCTGAATGTACTTCAT
GTGATTTGTCAACCATAGTTTATCAGAGATTATGGACTTAATTGATTGGTATATTAGTGACATCAACTTGACACAAGATTAGACAAAAAA
TTCCTTACAAAAATACTGTGTAACTATTTCTCAAACTTGTGGGATTTTTCAAAAGCTCAGTATATGAATCATCATACTGTTTGAAATTGC
TAATGACAGAGTAAGTAACACTAATATTGGTCATTGATCTTCGTTCATGAATTAGTCTACAGAAAAAAAATGTTCTGTAAAATTAGTCTG
TTGAAAATGTTTTCCAAACAATGTTACTTTGAAAATTGAGTTTATGTTTGACCTAAATGGGCTAAAATTACATTAGATAAACTAAAATTC
TGTCCGTGTAACTATAAATTTTGTGAATGCATTTTCCTGGTGTTTGAAAAAGAAGGGGGGGAGAATTCCAGGTGCCTTAATATAAAGTTT
GAAGCTTCATCCACCAAAGTTAAATAGAGCTATTTAAAAATGCACTTTATTTGTACTCTGTGTGGCTTTTGTTTTAGAATTTTGTTCAAA
TTATAGCAGAATTTAGGCAAAAATAAAACAGACATGTATTTTTGTTTGCTGAATGGATGAAACCATTGCATTCTTGTACACTGATTTGAA

>In-frame_ENST00000328300_ENST00000255499_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(amino acids)=655AA_start in transcript=244_stop in transcript=2211
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKG
IRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPG
PPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAVDIVAIMIGNLKGTKILQSIQRGIQVTMVIEVGKKHGPWVNHYSIFFVSVSFFIITAATV
GYFIFYSARRLRNARAQSRKQRQLKADAKKAIGRLQLRTLKQGDKEIGPDGDSCAVCIELYKPNDLVRILTCNHIFHKTCVDPWLLEHRT
CPMCKCDILKALGIEVDVEDGSVSLQVPVSNEISNSASSHEEDNRSETASSGYASVQGTDEPPLEEHVQSTNESLQLVNHEANSVAVDVI

--------------------------------------------------------------
>In-frame_ENST00000361603_ENST00000324342_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(transcript)=3492nt_BP=1409nt
AGAAGGGAAAAGTTCTCCTGAGAGACCGGCTTTGGGGAGGGGAGGGGGGAAGGAAGAGTAGCTCCTTCTTCTTCTTCTTTTTTTTTTCTT
CCACTCTTAAAAAGCTTCTTTCTCTTCACCCAAGCCTCACTGTCCCTCTCCGGCTCTAGCTCTCTCCATATAAACCCTCAAGATTATGTC
AATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGC
TGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGGGGGCAGCCTGCAGAGGCTGCGGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGA
CTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGG
GCCTCCGGGGCCTCGGGGACAAAAGGGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGAGGTCCTCCTGGACTTCCTGG
ATTTCCAGGGACACCAGGTCTTCCTGGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGTATTCCCGGATGCAATGGAACCAAGGG
AGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGGACCCCCTGGGATCCCAGGTATGAAGGGTGAACCAGG
TAGTATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGGCCTACCTGGTCCCACTGG
TATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGGGAATATGGG
CTTAAATTTCCAGGGACCCAAAGGTGAAAAAGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
ACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCAGG
TCCCCCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACC
AGGAATTCCTGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGGCCAAAAAGGTGACACTGGCCCACC
TGGACCTCCTGGACTTGTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGA
AAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGTGCAGTAGACATTGTTGCAATCATGATCGG
CAATCTGAAAGGCACAAAAATTCTGCAATCTATTCAAAGAGGCATACAAGTGACAATGGTCATAGAAGTAGGGAAAAAACATGGCCCTTG
GGTGAATCACTATTCAATTTTTTTCGTTTCTGTGTCCTTTTTTATTATTACGGCGGCAACTGTGGGCTATTTTATCTTTTATTCTGCTCG
AAGGCTACGGAATGCAAGAGCTCAAAGCAGGAAGCAGAGGCAATTAAAGGCAGATGCTAAAAAAGCTATTGGAAGGCTTCAACTACGCAC
ACTGAAACAAGGAGACAAGGAAATTGGCCCTGATGGAGATAGTTGTGCTGTGTGCATTGAATTGTATAAACCAAATGATTTGGTACGCAT
CTTAACGTGCAACCATATTTTCCATAAGACATGTGTTGACCCATGGCTGTTAGAACACAGGACTTGCCCCATGTGCAAATGTGACATACT
CAAAGCTTTGGGAATTGAGGTGGATGTTGAAGATGGATCAGTGTCTTTACAAGTCCCTGTATCCAATGAAATATCTAATAGTGCCTCCTC
CCATGAAGAGGATAATCGCAGCGAGACCGCATCATCTGGATATGCTTCAGTACAGGGAACAGATGAACCGCCTCTGGAGGAACACGTGCA
GTCAACAAATGAAAGTCTACAGCTGGTAAACCATGAAGCAAATTCTGTGGCAGTGGATGTTATTCCTCATGTTGACAACCCAACCTTTGA
AGAAGACGAAACTCCTAATCAAGAGACTGCTGTTCGAGAAATTAAATCTTAAAATCTGTGTAAATAGAAAACTTGAACCATTAGTAATAA
CAGAACTGCCAATCAGGGCCTAGTTTCTATTAATAAATTGGATAAATTTAATAAAATAAGAGTGATACTGAAAGTGCTCAGATGACTAAT
ATTATGCTATAGTTAAATGGCTTAAAATATTTAACCTGTTAACTTTTTTCCACAAACTCATTATAATATTTTTCATAGGCAAGTTTCCTC
TCAGTAGTGATAACAACATTTTTAGACATTCAAAACTGTCTTCAAGAAGTCACGTTTTTCATTTATAACAATTTTCTTATAAAAACATGT
TGCTTTTAAAATGTGGAGTAGCTGTAATCACTTTATTTTATGATAGTATCTTAATGAAAAATACTACTTCTTTAGCTTGGGCTACATGTG
TCAGGGTTTTTCTCCAGGTGCTTATATTGATCTGGAATTGTAATGTAAAAAGCAATGCAAACTTAGGCGAGTACTTCTTGAAATGTCTAT
TTAAGCTGCTTTAAGTTAATAGAAAAGATTAAAGCAAAATATTCATTTTTACTTTTTCTTATTTTTAAAATTAGGCTGAATGTACTTCAT
GTGATTTGTCAACCATAGTTTATCAGAGATTATGGACTTAATTGATTGGTATATTAGTGACATCAACTTGACACAAGATTAGACAAAAAA
TTCCTTACAAAAATACTGTGTAACTATTTCTCAAACTTGTGGGATTTTTCAAAAGCTCAGTATATGAATCATCATACTGTTTGAAATTGC
TAATGACAGAGTAAGTAACACTAATATTGGTCATTGATCTTCGTTCATGAATTAGTCTACAGAAAAAAAATGTTCTGTAAAATTAGTCTG
TTGAAAATGTTTTCCAAACAATGTTACTTTGAAAATTGAGTTTATGTTTGACCTAAATGGGCTAAAATTACATTAGATAAACTAAAATTC
TGTCCGTGTAACTATAAATTTTGTGAATGCATTTTCCTGGTGTTTGAAAAAGAAGGGGGGGAGAATTCCAGGTGCCTTAATATAAAGTTT
GAAGCTTCATCCACCAAAGTTAAATAGAGCTATTTAAAAATGCACTTTATTTGTACTCTGTGTGGCTTTTGTTTTAGAATTTTGTTCAAA
TTATAGCAGAATTTAGGCAAAAATAAAACAGACATGTATTTTTGTTTGCTGAATGGATGAAACCATTGCATTCTTGTACACTGATTTGAA

>In-frame_ENST00000361603_ENST00000324342_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(amino acids)=655AA_start in transcript=244_stop in transcript=2211
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKG
IRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPG
PPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAVDIVAIMIGNLKGTKILQSIQRGIQVTMVIEVGKKHGPWVNHYSIFFVSVSFFIITAATV
GYFIFYSARRLRNARAQSRKQRQLKADAKKAIGRLQLRTLKQGDKEIGPDGDSCAVCIELYKPNDLVRILTCNHIFHKTCVDPWLLEHRT
CPMCKCDILKALGIEVDVEDGSVSLQVPVSNEISNSASSHEEDNRSETASSGYASVQGTDEPPLEEHVQSTNESLQLVNHEANSVAVDVI

--------------------------------------------------------------
>In-frame_ENST00000361603_ENST00000255499_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(transcript)=3492nt_BP=1409nt
AGAAGGGAAAAGTTCTCCTGAGAGACCGGCTTTGGGGAGGGGAGGGGGGAAGGAAGAGTAGCTCCTTCTTCTTCTTCTTTTTTTTTTCTT
CCACTCTTAAAAAGCTTCTTTCTCTTCACCCAAGCCTCACTGTCCCTCTCCGGCTCTAGCTCTCTCCATATAAACCCTCAAGATTATGTC
AATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGC
TGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGGGGGCAGCCTGCAGAGGCTGCGGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGA
CTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGG
GCCTCCGGGGCCTCGGGGACAAAAGGGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGAGGTCCTCCTGGACTTCCTGG
ATTTCCAGGGACACCAGGTCTTCCTGGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGTATTCCCGGATGCAATGGAACCAAGGG
AGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGGACCCCCTGGGATCCCAGGTATGAAGGGTGAACCAGG
TAGTATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGGCCTACCTGGTCCCACTGG
TATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGGGAATATGGG
CTTAAATTTCCAGGGACCCAAAGGTGAAAAAGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
ACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCAGG
TCCCCCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACC
AGGAATTCCTGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGGCCAAAAAGGTGACACTGGCCCACC
TGGACCTCCTGGACTTGTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGA
AAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGTGCAGTAGACATTGTTGCAATCATGATCGG
CAATCTGAAAGGCACAAAAATTCTGCAATCTATTCAAAGAGGCATACAAGTGACAATGGTCATAGAAGTAGGGAAAAAACATGGCCCTTG
GGTGAATCACTATTCAATTTTTTTCGTTTCTGTGTCCTTTTTTATTATTACGGCGGCAACTGTGGGCTATTTTATCTTTTATTCTGCTCG
AAGGCTACGGAATGCAAGAGCTCAAAGCAGGAAGCAGAGGCAATTAAAGGCAGATGCTAAAAAAGCTATTGGAAGGCTTCAACTACGCAC
ACTGAAACAAGGAGACAAGGAAATTGGCCCTGATGGAGATAGTTGTGCTGTGTGCATTGAATTGTATAAACCAAATGATTTGGTACGCAT
CTTAACGTGCAACCATATTTTCCATAAGACATGTGTTGACCCATGGCTGTTAGAACACAGGACTTGCCCCATGTGCAAATGTGACATACT
CAAAGCTTTGGGAATTGAGGTGGATGTTGAAGATGGATCAGTGTCTTTACAAGTCCCTGTATCCAATGAAATATCTAATAGTGCCTCCTC
CCATGAAGAGGATAATCGCAGCGAGACCGCATCATCTGGATATGCTTCAGTACAGGGAACAGATGAACCGCCTCTGGAGGAACACGTGCA
GTCAACAAATGAAAGTCTACAGCTGGTAAACCATGAAGCAAATTCTGTGGCAGTGGATGTTATTCCTCATGTTGACAACCCAACCTTTGA
AGAAGACGAAACTCCTAATCAAGAGACTGCTGTTCGAGAAATTAAATCTTAAAATCTGTGTAAATAGAAAACTTGAACCATTAGTAATAA
CAGAACTGCCAATCAGGGCCTAGTTTCTATTAATAAATTGGATAAATTTAATAAAATAAGAGTGATACTGAAAGTGCTCAGATGACTAAT
ATTATGCTATAGTTAAATGGCTTAAAATATTTAACCTGTTAACTTTTTTCCACAAACTCATTATAATATTTTTCATAGGCAAGTTTCCTC
TCAGTAGTGATAACAACATTTTTAGACATTCAAAACTGTCTTCAAGAAGTCACGTTTTTCATTTATAACAATTTTCTTATAAAAACATGT
TGCTTTTAAAATGTGGAGTAGCTGTAATCACTTTATTTTATGATAGTATCTTAATGAAAAATACTACTTCTTTAGCTTGGGCTACATGTG
TCAGGGTTTTTCTCCAGGTGCTTATATTGATCTGGAATTGTAATGTAAAAAGCAATGCAAACTTAGGCGAGTACTTCTTGAAATGTCTAT
TTAAGCTGCTTTAAGTTAATAGAAAAGATTAAAGCAAAATATTCATTTTTACTTTTTCTTATTTTTAAAATTAGGCTGAATGTACTTCAT
GTGATTTGTCAACCATAGTTTATCAGAGATTATGGACTTAATTGATTGGTATATTAGTGACATCAACTTGACACAAGATTAGACAAAAAA
TTCCTTACAAAAATACTGTGTAACTATTTCTCAAACTTGTGGGATTTTTCAAAAGCTCAGTATATGAATCATCATACTGTTTGAAATTGC
TAATGACAGAGTAAGTAACACTAATATTGGTCATTGATCTTCGTTCATGAATTAGTCTACAGAAAAAAAATGTTCTGTAAAATTAGTCTG
TTGAAAATGTTTTCCAAACAATGTTACTTTGAAAATTGAGTTTATGTTTGACCTAAATGGGCTAAAATTACATTAGATAAACTAAAATTC
TGTCCGTGTAACTATAAATTTTGTGAATGCATTTTCCTGGTGTTTGAAAAAGAAGGGGGGGAGAATTCCAGGTGCCTTAATATAAAGTTT
GAAGCTTCATCCACCAAAGTTAAATAGAGCTATTTAAAAATGCACTTTATTTGTACTCTGTGTGGCTTTTGTTTTAGAATTTTGTTCAAA
TTATAGCAGAATTTAGGCAAAAATAAAACAGACATGTATTTTTGTTTGCTGAATGGATGAAACCATTGCATTCTTGTACACTGATTTGAA

>In-frame_ENST00000361603_ENST00000255499_TCGA-77-A5GH-01A_COL4A5_chrX_107829977_-_RNF128_chrX_106016143_length(amino acids)=655AA_start in transcript=244_stop in transcript=2211
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKG
IRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPG
PPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAVDIVAIMIGNLKGTKILQSIQRGIQVTMVIEVGKKHGPWVNHYSIFFVSVSFFIITAATV
GYFIFYSARRLRNARAQSRKQRQLKADAKKAIGRLQLRTLKQGDKEIGPDGDSCAVCIELYKPNDLVRILTCNHIFHKTCVDPWLLEHRT
CPMCKCDILKALGIEVDVEDGSVSLQVPVSNEISNSASSHEEDNRSETASSGYASVQGTDEPPLEEHVQSTNESLQLVNHEANSVAVDVI

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

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Fusion Gene PPI Analysis for COL4A5-RNF128


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 COL4A5-RNF128


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 COL4A5-RNF128


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL4A5C4746986ALPORT SYNDROME 1, X-LINKED24CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL4A5C1567741Alport Syndrome12CLINGEN;GENOMICS_ENGLAND
HgeneCOL4A5C0017668Focal glomerulosclerosis1GENOMICS_ENGLAND
HgeneCOL4A5C0018965Hematuria1GENOMICS_ENGLAND
HgeneCOL4A5C0033687Proteinuria1GENOMICS_ENGLAND
HgeneCOL4A5C0086533Leiomyoma, Epithelioid1CTD_human
HgeneCOL4A5C0241908Hematuria, Benign Familial1GENOMICS_ENGLAND
HgeneCOL4A5C1384666hearing impairment1GENOMICS_ENGLAND
HgeneCOL4A5C1567742Alport Syndrome, X-Linked1GENOMICS_ENGLAND
HgeneCOL4A5C1567743Alport Syndrome, Autosomal Dominant1GENOMICS_ENGLAND
HgeneCOL4A5C1567744Alport Syndrome, Autosomal Recessive1GENOMICS_ENGLAND
HgeneCOL4A5C1839884Leiomyomatosis, esophageal and vulval, with nephropathy1ORPHANET
HgeneCOL4A5C4049702Focal Segmental Glomerulosclerosis, Not Otherwise Specified1GENOMICS_ENGLAND