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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:RB1-DIAPH3 (FusionGDB2 ID:72095)

Fusion Gene Summary for RB1-DIAPH3

check button Fusion gene summary
Fusion gene informationFusion gene name: RB1-DIAPH3
Fusion gene ID: 72095
HgeneTgene
Gene symbol

RB1

DIAPH3

Gene ID

5925

81624

Gene nameRB transcriptional corepressor 1diaphanous related formin 3
SynonymsOSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110AN|AUNA1|DIA2|DRF3|NSDAN|diap3|mDia2
Cytomap

13q14.2

13q21.2

Type of geneprotein-codingprotein-coding
Descriptionretinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblasprotein diaphanous homolog 3diaphanous homolog 3
Modification date2020032920200313
UniProtAcc.

Q9NSV4

Ensembl transtripts involved in fusion geneENST00000267163, ENST00000484879, 
ENST00000400324, ENST00000400330, 
ENST00000400319, ENST00000400320, 
ENST00000377908, ENST00000267215, 
ENST00000465066, 
Fusion gene scores* DoF score23 X 9 X 13=269120 X 18 X 9=3240
# samples 2723
** MAII scorelog2(27/2691*10)=-3.31711107858959
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(23/3240*10)=-3.81628804682761
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RB1 [Title/Abstract] AND DIAPH3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRB1(48881542)-DIAPH3(60707123), # samples:3
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
HgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

HgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

HgeneRB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

25100735


check buttonFusion gene breakpoints across RB1 (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 DIAPH3 (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
ChimerDB4SARCTCGA-LI-A9QH-01ARB1chr13

48881542

+DIAPH3chr13

60707123

-
ChimerDB4SARCTCGA-DX-AB2P-01ARB1chr13

48881542

+DIAPH3chr13

60707123

-
ChimerDB4SARCTCGA-LI-A9QH-01ARB1chr13

48881542

-DIAPH3chr13

60707123

-


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Fusion Gene ORF analysis for RB1-DIAPH3

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-frameENST00000267163ENST00000400324RB1chr13

48881542

+DIAPH3chr13

60707123

-
In-frameENST00000267163ENST00000400330RB1chr13

48881542

+DIAPH3chr13

60707123

-
5CDS-intronENST00000267163ENST00000400319RB1chr13

48881542

+DIAPH3chr13

60707123

-
5CDS-intronENST00000267163ENST00000400320RB1chr13

48881542

+DIAPH3chr13

60707123

-
5CDS-intronENST00000267163ENST00000377908RB1chr13

48881542

+DIAPH3chr13

60707123

-
5CDS-intronENST00000267163ENST00000267215RB1chr13

48881542

+DIAPH3chr13

60707123

-
5CDS-intronENST00000267163ENST00000465066RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-3CDSENST00000484879ENST00000400324RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-3CDSENST00000484879ENST00000400330RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-intronENST00000484879ENST00000400319RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-intronENST00000484879ENST00000400320RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-intronENST00000484879ENST00000377908RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-intronENST00000484879ENST00000267215RB1chr13

48881542

+DIAPH3chr13

60707123

-
intron-intronENST00000484879ENST00000465066RB1chr13

48881542

+DIAPH3chr13

60707123

-

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)
ENST00000267163RB1chr1348881542+ENST00000400324DIAPH3chr1360707123-480540213838031221
ENST00000267163RB1chr1348881542+ENST00000400330DIAPH3chr1360707123-479740213838031221

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
ENST00000267163ENST00000400324RB1chr1348881542+DIAPH3chr1360707123-0.0004386020.99956137
ENST00000267163ENST00000400330RB1chr1348881542+DIAPH3chr1360707123-0.0004420710.9995579

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Fusion Genomic Features for RB1-DIAPH3


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 RB1-DIAPH3


check button Go to

FGviewer for the breakpoints of chr13:48881542-chr13:60707123

.
- 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
.DIAPH3

Q9NSV4

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: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity. {ECO:0000250|UniProtKB:Q9Z207}.

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
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+22710_1888.0929.0Compositional biasNote=Poly-Ala
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+22720_2988.0929.0Compositional biasNote=Poly-Pro
TgeneDIAPH3chr13:48881542chr13:60707123ENST000002672150271013_105660.01113.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000267215027497_55460.01113.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST000003779080271013_10560.01183.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000377908027497_5540.01183.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003190261013_10560.01124.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400319026497_5540.01124.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003200261013_10560.01148.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400320026497_5540.01148.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003240281013_105660.01194.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400324028497_55460.01194.0Coiled coilOntology_term=ECO:0000255
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000267215027561_63660.01113.0Compositional biasNote=Pro-rich
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000377908027561_6360.01183.0Compositional biasNote=Pro-rich
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400319026561_6360.01124.0Compositional biasNote=Pro-rich
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400320026561_6360.01148.0Compositional biasNote=Pro-rich
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400324028561_63660.01194.0Compositional biasNote=Pro-rich
TgeneDIAPH3chr13:48881542chr13:60707123ENST000002672150271057_108760.01113.0DomainDAD
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000267215027114_47660.01113.0DomainGBD/FH3
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000267215027561_63160.01113.0DomainNote=FH1
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000267215027636_103460.01113.0DomainFH2
TgeneDIAPH3chr13:48881542chr13:60707123ENST000003779080271057_10870.01183.0DomainDAD
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000377908027114_4760.01183.0DomainGBD/FH3
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000377908027561_6310.01183.0DomainNote=FH1
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000377908027636_10340.01183.0DomainFH2
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003190261057_10870.01124.0DomainDAD
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400319026114_4760.01124.0DomainGBD/FH3
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400319026561_6310.01124.0DomainNote=FH1
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400319026636_10340.01124.0DomainFH2
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003200261057_10870.01148.0DomainDAD
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400320026114_4760.01148.0DomainGBD/FH3
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400320026561_6310.01148.0DomainNote=FH1
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400320026636_10340.01148.0DomainFH2
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003240281057_108760.01194.0DomainDAD
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400324028114_47660.01194.0DomainGBD/FH3
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400324028561_63160.01194.0DomainNote=FH1
TgeneDIAPH3chr13:48881542chr13:60707123ENST00000400324028636_103460.01194.0DomainFH2
TgeneDIAPH3chr13:48881542chr13:60707123ENST000002672150271184_119360.01113.0MotifNuclear export signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST000003779080271184_11930.01183.0MotifNuclear export signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST0000037790802736_600.01183.0MotifNuclear localization signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003190261184_11930.01124.0MotifNuclear export signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST0000040031902636_600.01124.0MotifNuclear localization signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003200261184_11930.01148.0MotifNuclear export signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST0000040032002636_600.01148.0MotifNuclear localization signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST000004003240281184_119360.01194.0MotifNuclear export signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+227860_87688.0929.0MotifBipartite nuclear localization signal
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+227373_57988.0929.0RegionNote=Domain A
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+227373_77188.0929.0RegionNote=Pocket%3B binds T and E1A
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+227580_63988.0929.0RegionNote=Spacer
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+227640_77188.0929.0RegionNote=Domain B
TgeneDIAPH3chr13:48881542chr13:60707123ENST0000026721502736_6060.01113.0MotifNuclear localization signal
TgeneDIAPH3chr13:48881542chr13:60707123ENST0000040032402836_6060.01194.0MotifNuclear localization signal


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Fusion Gene Sequence for RB1-DIAPH3


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_ENST00000267163_ENST00000400324_TCGA-LI-A9QH-01A_RB1_chr13_48881542_+_DIAPH3_chr13_60707123_length(transcript)=4805nt_BP=402nt
TCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCGCGCGCGTCGTCCT
CCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCC
GCTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTC
GTCAGGCTTGAGTTTGAAGAAACAGAAGAACCTGATTTTACTGCATTATGTCAGAAATTAAAGATACCAGATCATGTCAGAGAGAGAGCT
TGGTTAACTTGGGAGAAAGTTTCATCTGTGGATGGAGTATTGCATTTAAATATTAGGACACTGACGGATGATATGCTGGACAAATTTGCC
AGCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGATTGCTCAGCAGCACCT
TTAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGAAGATATGAATTTAAAT
GAAGATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAATACTGCTTCTAAGACAGGA
AGTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTG
GAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTG
GAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTAAAAGCCCTGATGAATACG
CAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGACACCCCAATATGATGACA
GATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGTGAA
GAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAGTAGCTTGTATGCAGCTCATCAAT
GCCCTGGTTACATCTCCTGATGATTTGGATTTCAGGCTTCACATCAGAAATGAATTTATGCGTTGTGGATTGAAAGAGATATTGCCAAAT
TTAAAATGCATTAAGAATGATGGCCTGGATATCCAACTTAAAGTCTTTGATGAGCATAAAGAAGAAGATTTGTTTGAGTTATCCCATCGC
CTTGAAGATATTAGAGCTGAACTTGATGAAGCATATGATGTTTACAACATGGTGTGGAGCACAGTTAAAGAAACTAGAGCAGAGGGATAT
TTTATTTCTATTCTTCAGCATCTTTTGCTGATTCGAAATGATTATTTTATAAGGCAACAATACTTCAAATTAATTGATGAGTGTGTATCC
CAGATTGTATTGCATAGAGATGGAATGGATCCAGACTTCACATATCGAAAAAGACTAGATTTAGATTTAACCCAGTTTGTAGACATTTGC
ATAGATCAAGCAAAACTAGAAGAGTTTGAAGAGAAAGCATCAGAACTTTACAAGAAATTTGAAAAAGAGTTTACCGACCACCAAGAAACT
CAGGCTGAATTGCAGAAAAAAGAGGCAAAGATTAATGAGCTTCAAGCAGAGCTACAAGCTTTTAAGTCTCAGTTTGGTGCCTTGCCAGCT
GATTGTAATATTCCTTTGCCTCCCTCTAAAGAAGGTGGAACTGGCCACTCAGCACTTCCTCCTCCGCCTCCACTGCCTTCTGGTGGAGGG
GTGCCGCCTCCACCTCCTCCCCCACCACCTCCTCCACTTCCAGGAATGCGGATGCCATTCAGTGGTCCTGTGCCTCCACCACCTCCCCTG
GGATTCCTTGGAGGACAAAATTCTCCTCCTCTACCAATCCTGCCATTTGGGTTGAAACCAAAGAAAGAATTTAAACCTGAAATCAGCATG
AGAAGATTGAATTGGTTAAAGATCAGACCTCATGAAATGACTGAAAACTGTTTCTGGATAAAAGTAAATGAAAATAAGTATGAAAACGTG
GATTTGCTTTGTAAACTTGAGAATACATTTTGTTGCCAACAAAAAGAGAGAAGAGAAGAGGAAGATATTGAAGAGAAGAAATCGATTAAG
AAAAAAATTAAAGAACTTAAGTTTTTAGATTCTAAAATTGCCCAGAACCTTTCAATCTTCCTGAGCTCTTTTCGGGTGCCATATGAGGAA
ATCAGAATGATGATATTGGAAGTAGATGAAACACGGTTGGCAGAGTCTATGATTCAGAACTTAATAAAGCATCTTCCTGATCAAGAGCAA
TTAAATTCATTGTCTCAGTTCAAGAGTGAATATAGCAACTTATGTGAACCTGAGCAGTTTGTGGTTGTGATGAGCAATGTGAAGAGACTA
CGGCCACGGCTCAGTGCTATTCTCTTTAAGCTTCAGTTTGAAGAGCAGGTGAACAACATCAAACCTGACATCATGGCTGTCAGTACTGCC
TGCGAAGAGATAAAGAAGAGCAAAAGCTTTAGCAAGTTGCTGGAACTTGTATTGCTAATGGGAAACTACATGAATGCTGGCTCCCGGAAT
GCTCAAACCTTCGGATTTAACCTTAGCTCTCTCTGTAAACTAAAGGACACAAAATCAGCAGATCAGAAAACAACGCTACTTCATTTCCTG
GTAGAAATATGTGAAGAGAAGTACCCTGATATACTGAATTTTGTGGATGATTTGGAACCTTTAGACAAAGCTAGTAAAGTCTCTGTAGAA
ACGCTGGAAAAGAATTTGAGGCAGATGGGAAGGCAGCTTCAACAGCTTGAGAAGGAATTGGAAACCTTTCCCCCTCCTGAGGACTTGCAT
GACAAGTTTGTGACAAAGATGTCCAGATTTGTTATCAGTGCAAAAGAACAATATGAGACACTTTCGAAGTTACACGAAAACATGGAAAAG
TTATACCAGAGTATAATAGGATACTATGCCATTGATGTGAAGAAGGTGTCTGTGGAAGACTTTCTTACTGACCTGAATAACTTCAGAACC
ACATTCATGCAAGCAATAAAGGAGAATATCAAAAAAAGAGAAGCAGAGGAAAAAGAAAAACGTGTCAGAATAGCTAAAGAATTAGCAGAG
CGAGAAAGACTCGAACGCCAACAAAAGAAAAAGCGTTTATTAGAAATGAAGACTGAGGGTGATGAGACAGGAGTGATGGATAATCTGCTG
GAGGCCTTGCAGTCCGGGGCTGCCTTCCGCGACAGAAGAAAAAGGACACCGATGCCAAAAGATGTTCGGCAGAGTCTCAGTCCAATGTCT
CAGAGGCCTGTTCTGAAAGTTTGTAACCATGAAAATCAGAAAGTGCAGTTGACAGAAGGGTCACGTTCACACTACAATATCAATTGCAAC
TCAACAAGGACTCCAGTCGCCAAGGAGCTTAATTATAATCTAGACACTCATACGTCTACTGGGAGGATCAAGGCAGCTGAGAAGAAGGAA
GCGTGTAATGTAGAAAGCAACAGAAAAAAGGAAACGGAACTTCTTGGCTCTTTTTCTAAAAATGAATCAGTTCCCGAAGTTGAAGCCCTG
CTGGCAAGATTACGAGCTTTATAAGTTAAACTGGTTTTTAAAAAAAATGATTAAGCCAAATATAAAGCCATGCTCTAAACTATAACACTT
GAAAAAATTGCTTTTATGTAAGTGACTTTATATAGTTTTAAATTATGATATATATTAGAAAAATAAAGCTAAATATATGATTGCAATGCT
TTTTCTATGTACTGGAGGTTTTGGTTTATTCAAGATTGTACCGGGCTTTAATCCTTTTTTTTTTTTTTTTGTCTCCTGGTATTCCTCAGT
TCTTTATTTGGTGGTTAAATTATACATATTGCTTTAGAGAGCAGGTAGGTGGCCATGTGTTCAGCAGTGTGTCCTTAAGAAAATACCATC
TTTCTAAGCCACTGGAATTTTTACTTTACTATTTTTAACATTAATGGATGTCAGGTCATCAACCTCAAGTCTTTACATATCCATGTATAT
TCCATATATATTGTTTATATAGGCCCAAGTTTCTCCTTAATTGGGATCTATATACTACCAGCACAACATCAAAAACATGTAATTGAATAC
ATCAGAGCTATATATGTAAGGAAATGACTGGTGACCCCATTATCATCATTGTTGAATTCATGTTAAGTAGACCCTCTAGGGGACCATAAG
GCAATTGAGCACATAACGAAAAATGATGCAATAAGAATGTATGCACTCTCTTTGCCAAATGCATGTGCTTTTGTGTAACGTGGATGTAAA
CAGAATTGCAGTGCTGCCGAAATTCTTGATCTTGGCTAAGAGAGTATTTTTCCCCTTGTAATTATGACTCTGAGATAAAATTGCCATTTT
GAAATTTCCAAAGTAACAACTTTTTTTATTTTATGAATAAACTTGGGATTGCAATTTCTCTGATCTGACAATCAATAACTTTAACAAAGA
TCTAAATAAGTGTTTCAAGGAAAGTTTTCCTAAGCAAATGTAATATTACCTCATTTGGGCATCATTACTCTGTTAATTCTATATCAAAGG

>In-frame_ENST00000267163_ENST00000400324_TCGA-LI-A9QH-01A_RB1_chr13_48881542_+_DIAPH3_chr13_60707123_length(amino acids)=1221AA_start in transcript=138_stop in transcript=3803
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLHL
NIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKK
EMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVKKN
QHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRFFCIVEGLRH
NSVQLQVACMQLINALVTSPDDLDFRLHIRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDVYN
MVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYFKLIDECVSQIVLHRDGMDPDFTYRKRLDLDLTQFVDICIDQAKLEEFEEKASEL
YKKFEKEFTDHQETQAELQKKEAKINELQAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALPPPPPLPSGGGVPPPPPPPPPPPLPGM
RMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLKPKKEFKPEISMRRLNWLKIRPHEMTENCFWIKVNENKYENVDLLCKLENTFCCQQKE
RREEEDIEEKKSIKKKIKELKFLDSKIAQNLSIFLSSFRVPYEEIRMMILEVDETRLAESMIQNLIKHLPDQEQLNSLSQFKSEYSNLCE
PEQFVVVMSNVKRLRPRLSAILFKLQFEEQVNNIKPDIMAVSTACEEIKKSKSFSKLLELVLLMGNYMNAGSRNAQTFGFNLSSLCKLKD
TKSADQKTTLLHFLVEICEEKYPDILNFVDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSRFVISAKE
QYETLSKLHENMEKLYQSIIGYYAIDVKKVSVEDFLTDLNNFRTTFMQAIKENIKKREAEEKEKRVRIAKELAERERLERQQKKKRLLEM
KTEGDETGVMDNLLEALQSGAAFRDRRKRTPMPKDVRQSLSPMSQRPVLKVCNHENQKVQLTEGSRSHYNINCNSTRTPVAKELNYNLDT

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>In-frame_ENST00000267163_ENST00000400330_TCGA-LI-A9QH-01A_RB1_chr13_48881542_+_DIAPH3_chr13_60707123_length(transcript)=4797nt_BP=402nt
TCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCGCGCGCGTCGTCCT
CCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCC
GCTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTC
GTCAGGCTTGAGTTTGAAGAAACAGAAGAACCTGATTTTACTGCATTATGTCAGAAATTAAAGATACCAGATCATGTCAGAGAGAGAGCT
TGGTTAACTTGGGAGAAAGTTTCATCTGTGGATGGAGTATTGCATTTAAATATTAGGACACTGACGGATGATATGCTGGACAAATTTGCC
AGCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGATTGCTCAGCAGCACCT
TTAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGAAGATATGAATTTAAAT
GAAGATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAATACTGCTTCTAAGACAGGA
AGTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTG
GAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTG
GAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTAAAAGCCCTGATGAATACG
CAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGACACCCCAATATGATGACA
GATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGTGAA
GAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAGTAGCTTGTATGCAGCTCATCAAT
GCCCTGGTTACATCTCCTGATGATTTGGATTTCAGGCTTCACATCAGAAATGAATTTATGCGTTGTGGATTGAAAGAGATATTGCCAAAT
TTAAAATGCATTAAGAATGATGGCCTGGATATCCAACTTAAAGTCTTTGATGAGCATAAAGAAGAAGATTTGTTTGAGTTATCCCATCGC
CTTGAAGATATTAGAGCTGAACTTGATGAAGCATATGATGTTTACAACATGGTGTGGAGCACAGTTAAAGAAACTAGAGCAGAGGGATAT
TTTATTTCTATTCTTCAGCATCTTTTGCTGATTCGAAATGATTATTTTATAAGGCAACAATACTTCAAATTAATTGATGAGTGTGTATCC
CAGATTGTATTGCATAGAGATGGAATGGATCCAGACTTCACATATCGAAAAAGACTAGATTTAGATTTAACCCAGTTTGTAGACATTTGC
ATAGATCAAGCAAAACTAGAAGAGTTTGAAGAGAAAGCATCAGAACTTTACAAGAAATTTGAAAAAGAGTTTACCGACCACCAAGAAACT
CAGGCTGAATTGCAGAAAAAAGAGGCAAAGATTAATGAGCTTCAAGCAGAGCTACAAGCTTTTAAGTCTCAGTTTGGTGCCTTGCCAGCT
GATTGTAATATTCCTTTGCCTCCCTCTAAAGAAGGTGGAACTGGCCACTCAGCACTTCCTCCTCCGCCTCCACTGCCTTCTGGTGGAGGG
GTGCCGCCTCCACCTCCTCCCCCACCACCTCCTCCACTTCCAGGAATGCGGATGCCATTCAGTGGTCCTGTGCCTCCACCACCTCCCCTG
GGATTCCTTGGAGGACAAAATTCTCCTCCTCTACCAATCCTGCCATTTGGGTTGAAACCAAAGAAAGAATTTAAACCTGAAATCAGCATG
AGAAGATTGAATTGGTTAAAGATCAGACCTCATGAAATGACTGAAAACTGTTTCTGGATAAAAGTAAATGAAAATAAGTATGAAAACGTG
GATTTGCTTTGTAAACTTGAGAATACATTTTGTTGCCAACAAAAAGAGAGAAGAGAAGAGGAAGATATTGAAGAGAAGAAATCGATTAAG
AAAAAAATTAAAGAACTTAAGTTTTTAGATTCTAAAATTGCCCAGAACCTTTCAATCTTCCTGAGCTCTTTTCGGGTGCCATATGAGGAA
ATCAGAATGATGATATTGGAAGTAGATGAAACACGGTTGGCAGAGTCTATGATTCAGAACTTAATAAAGCATCTTCCTGATCAAGAGCAA
TTAAATTCATTGTCTCAGTTCAAGAGTGAATATAGCAACTTATGTGAACCTGAGCAGTTTGTGGTTGTGATGAGCAATGTGAAGAGACTA
CGGCCACGGCTCAGTGCTATTCTCTTTAAGCTTCAGTTTGAAGAGCAGGTGAACAACATCAAACCTGACATCATGGCTGTCAGTACTGCC
TGCGAAGAGATAAAGAAGAGCAAAAGCTTTAGCAAGTTGCTGGAACTTGTATTGCTAATGGGAAACTACATGAATGCTGGCTCCCGGAAT
GCTCAAACCTTCGGATTTAACCTTAGCTCTCTCTGTAAACTAAAGGACACAAAATCAGCAGATCAGAAAACAACGCTACTTCATTTCCTG
GTAGAAATATGTGAAGAGAAGTACCCTGATATACTGAATTTTGTGGATGATTTGGAACCTTTAGACAAAGCTAGTAAAGTCTCTGTAGAA
ACGCTGGAAAAGAATTTGAGGCAGATGGGAAGGCAGCTTCAACAGCTTGAGAAGGAATTGGAAACCTTTCCCCCTCCTGAGGACTTGCAT
GACAAGTTTGTGACAAAGATGTCCATATTTGTTATCAGTGCAAAAGAACAATATGAGACACTTTCGAAGTTACACGAAAACATGGAAAAG
TTATACCAGAGTATAATAGGATACTATGCCATTGATGTGAAGAAGGTGTCTGTGGAAGACTTTCTTACTGACCTGAATAACTTCAGAACC
ACATTCATGCAAGCAATAAAGGAGAATATCAAAAAAAGAGAAGCAGAGGAAAAAGAAAAACGTGTCAGAATAGCTAAAGAATTAGCAGAG
CGAGAAAGACTCGAACGCCAACAAAAGAAAAAGCGTTTATTAGAAATGAAGACTGAGGGTGATGAGACAGGAGTGATGGATAATCTGCTG
GAGGCCTTGCAGTCCGGGGCTGCCTTCCGCGACAGAAGAAAAAGGACACCGATGCCAAAAGATGTTCGGCAGAGTCTCAGTCCAATGTCT
CAGAGGCCTGTTCTGAAAGTTTGTAACCATGAAAATCAGAAAGTGCAGTTGACAGAAGGGTCACGTTCACACTACAATATCAATTGCAAC
TCAACAAGGACTCCAGTCGCCAAGGAGCTTAATTATAATCTAGACACTCATACGTCTACTGGGAGGATCAAGGCAGCTGAGAAGAAGGAA
GCGTGTAATGTAGAAAGCAACAGAAAAAAGGAAACGGAACTTCTTGGCTCTTTTTCTAAAAATGAATCAGTTCCCGAAGTTGAAGCCCTG
CTGGCAAGATTACGAGCTTTATAAGTTAAACTGGTTTTTAAAAAAAATGATTAAGCCAAATATAAAGCCATGCTCTAAACTATAACACTT
GAAAAAATTGCTTTTATGTAAGTGACTTTATATAGTTTTAAATTATGATATATATTAGAAAAATAAAGCTAAATATATGATTGCAATGCT
TTTTCTATGTACTGGAGGTTTTGGTTTATTCAAGATTGTACCGGGCTTTAATCCTTTTTTTTTTTTTTTTGTCTCCTGGTATTCCTCAGT
TCTTTATTTGGTGGTTAAATTATACATATTGCTTTAGAGAGCAGGTAGGTGGCCATGTGTTCAGCAGTGTGTCCTTAAGAAAATACCATC
TTTCTAAGCCACTGGAATTTTTACTTTACTATTTTTAACATTAATGGATGTCAGGTCATCAACCTCAAGTCTTTACATATCCATGTATAT
TCCATATATATTGTTTATATAGGCCCAAGTTTCTCCTTAATTGGGATCTATATACTACCAGCACAACATCAAAAACATGTAATTGAATAC
ATCAGAGCTATATATGTAAGGAAATGACTGGTGACCCCATTATCATCATTGTTGAATTCATGTTAAGTAGACCCTCTAGGGGACCATAAG
GCAATTGAGCACATAACGAAAAATGATGCAATAAGAATGTATGCACTCTCTTTGCCAAATGCATGTGCTTTTGTGTAACGTGGATGTAAA
CAGAATTGCAGTGCTGCCGAAATTCTTGATCTTGGCTAAGAGAGTATTTTTCCCCTTGTAATTATGACTCTGAGATAAAATTGCCATTTT
GAAATTTCCAAAGTAACAACTTTTTTTATTTTATGAATAAACTTGGGATTGCAATTTCTCTGATCTGACAATCAATAACTTTAACAAAGA
TCTAAATAAGTGTTTCAAGGAAAGTTTTCCTAAGCAAATGTAATATTACCTCATTTGGGCATCATTACTCTGTTAATTCTATATCAAAGG

>In-frame_ENST00000267163_ENST00000400330_TCGA-LI-A9QH-01A_RB1_chr13_48881542_+_DIAPH3_chr13_60707123_length(amino acids)=1221AA_start in transcript=138_stop in transcript=3803
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLHL
NIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKK
EMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVKKN
QHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRFFCIVEGLRH
NSVQLQVACMQLINALVTSPDDLDFRLHIRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDVYN
MVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYFKLIDECVSQIVLHRDGMDPDFTYRKRLDLDLTQFVDICIDQAKLEEFEEKASEL
YKKFEKEFTDHQETQAELQKKEAKINELQAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALPPPPPLPSGGGVPPPPPPPPPPPLPGM
RMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLKPKKEFKPEISMRRLNWLKIRPHEMTENCFWIKVNENKYENVDLLCKLENTFCCQQKE
RREEEDIEEKKSIKKKIKELKFLDSKIAQNLSIFLSSFRVPYEEIRMMILEVDETRLAESMIQNLIKHLPDQEQLNSLSQFKSEYSNLCE
PEQFVVVMSNVKRLRPRLSAILFKLQFEEQVNNIKPDIMAVSTACEEIKKSKSFSKLLELVLLMGNYMNAGSRNAQTFGFNLSSLCKLKD
TKSADQKTTLLHFLVEICEEKYPDILNFVDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSIFVISAKE
QYETLSKLHENMEKLYQSIIGYYAIDVKKVSVEDFLTDLNNFRTTFMQAIKENIKKREAEEKEKRVRIAKELAERERLERQQKKKRLLEM
KTEGDETGVMDNLLEALQSGAAFRDRRKRTPMPKDVRQSLSPMSQRPVLKVCNHENQKVQLTEGSRSHYNINCNSTRTPVAKELNYNLDT

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Top

Fusion Gene PPI Analysis for RB1-DIAPH3


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
HgeneRB1chr13:48881542chr13:60707123ENST00000267163+227763_92888.0929.0LIMD1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for RB1-DIAPH3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for RB1-DIAPH3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRB1C0035335Retinoblastoma15CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneRB1C0006142Malignant neoplasm of breast3CGI;CTD_human
HgeneRB1C0149925Small cell carcinoma of lung3CGI;CTD_human;ORPHANET
HgeneRB1C0678222Breast Carcinoma3CGI;CTD_human
HgeneRB1C0751483Familial Retinoblastoma3CTD_human;ORPHANET
HgeneRB1C1257931Mammary Neoplasms, Human3CTD_human
HgeneRB1C1458155Mammary Neoplasms3CTD_human
HgeneRB1C4704874Mammary Carcinoma, Human3CTD_human
HgeneRB1C0029463Osteosarcoma2CTD_human;ORPHANET
HgeneRB1C2239176Liver carcinoma2CTD_human
HgeneRB1C0001624Adrenal Gland Neoplasms1CTD_human
HgeneRB1C0007097Carcinoma1CTD_human
HgeneRB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneRB1C0007786Brain Ischemia1CTD_human
HgeneRB1C0014518Toxic Epidermal Necrolysis1CTD_human
HgeneRB1C0019207Hepatoma, Morris1CTD_human
HgeneRB1C0019208Hepatoma, Novikoff1CTD_human
HgeneRB1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneRB1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneRB1C0023904Liver Neoplasms, Experimental1CTD_human
HgeneRB1C0024667Animal Mammary Neoplasms1CTD_human
HgeneRB1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneRB1C0027627Neoplasm Metastasis1CTD_human
HgeneRB1C0027659Neoplasms, Experimental1CTD_human
HgeneRB1C0030297Pancreatic Neoplasm1CTD_human
HgeneRB1C0033578Prostatic Neoplasms1CTD_human
HgeneRB1C0036920Sezary Syndrome1CTD_human
HgeneRB1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneRB1C0086404Experimental Hepatoma1CTD_human
HgeneRB1C0205696Anaplastic carcinoma1CTD_human
HgeneRB1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneRB1C0205698Undifferentiated carcinoma1CTD_human
HgeneRB1C0205699Carcinomatosis1CTD_human
HgeneRB1C0206686Adrenocortical carcinoma1CTD_human
HgeneRB1C0238198Gastrointestinal Stromal Tumors1CTD_human
HgeneRB1C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneRB1C0346647Malignant neoplasm of pancreas1CTD_human
HgeneRB1C0376358Malignant neoplasm of prostate1CTD_human
HgeneRB1C0750887Adrenal Cancer1CTD_human
HgeneRB1C0917798Cerebral Ischemia1CTD_human
HgeneRB1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneRB1C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneRB1C1368275Pigmented Basal Cell Carcinoma1CTD_human
HgeneRB1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneRB1C2608045Trilateral Retinoblastoma1GENOMICS_ENGLAND
HgeneRB1C2930974Acute erythroleukemia1CTD_human
HgeneRB1C2930975Acute erythroleukemia - M6a subtype1CTD_human
HgeneRB1C2930976Acute myeloid leukemia FAB-M61CTD_human
HgeneRB1C2930977Acute erythroleukemia - M6b subtype1CTD_human
HgeneRB1C3151302Chromosome 13q14 deletion syndrome1ORPHANET
HgeneRB1C3179349Gastrointestinal Stromal Sarcoma1CTD_human
HgeneRB1C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneRB1C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
HgeneRB1C4721806Carcinoma, Basal Cell1CTD_human
TgeneDIAPH3C1852271Auditory neuropathy2CLINGEN
TgeneDIAPH3C2732267Auditory neuropathy spectrum disorder2CLINGEN
TgeneDIAPH3C1836743AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 11CTD_human;GENOMICS_ENGLAND