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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:RNGTT-AHI1 (FusionGDB2 ID:75146)

Fusion Gene Summary for RNGTT-AHI1

check button Fusion gene summary
Fusion gene informationFusion gene name: RNGTT-AHI1
Fusion gene ID: 75146
HgeneTgene
Gene symbol

RNGTT

AHI1

Gene ID

8732

54806

Gene nameRNA guanylyltransferase and 5'-phosphataseAbelson helper integration site 1
SynonymsCAP1A|HCE|HCE1|hCAPAHI-1|JBTS3|ORF1|dJ71N10.1
Cytomap

6q15

6q23.3

Type of geneprotein-codingprotein-coding
DescriptionmRNA-capping enzymeHCAP1jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains
Modification date2020031320200313
UniProtAcc.

Q8N157

Ensembl transtripts involved in fusion geneENST00000265607, ENST00000369475, 
ENST00000369485, ENST00000538899, 
ENST00000417892, ENST00000327035, 
ENST00000367798, ENST00000488690, 
ENST00000528103, ENST00000531527, 
ENST00000534469, ENST00000457866, 
ENST00000367800, 
Fusion gene scores* DoF score14 X 13 X 5=9109 X 10 X 7=630
# samples 1510
** MAII scorelog2(15/910*10)=-2.60090404459018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/630*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNGTT [Title/Abstract] AND AHI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRNGTT(89479493)-AHI1(135606785), # samples:2
Anticipated loss of major functional domain due to fusion event.RNGTT-AHI1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RNGTT-AHI1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneRNGTT

GO:0006370

7-methylguanosine mRNA capping

9473487

HgeneRNGTT

GO:0006396

RNA processing

21636784


check buttonFusion gene breakpoints across RNGTT (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 AHI1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-EE-A2A0-06ARNGTTchr6

89479493

-AHI1chr6

135606785

-


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Fusion Gene ORF analysis for RNGTT-AHI1

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
5CDS-3UTRENST00000265607ENST00000417892RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-3UTRENST00000369475ENST00000417892RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-3UTRENST00000369485ENST00000417892RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-3UTRENST00000538899ENST00000417892RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000265607ENST00000327035RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000265607ENST00000367798RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000265607ENST00000488690RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000265607ENST00000528103RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000265607ENST00000531527RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000265607ENST00000534469RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369475ENST00000327035RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369475ENST00000367798RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369475ENST00000488690RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369475ENST00000528103RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369475ENST00000531527RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369475ENST00000534469RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369485ENST00000327035RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369485ENST00000367798RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369485ENST00000488690RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369485ENST00000528103RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369485ENST00000531527RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000369485ENST00000534469RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000538899ENST00000327035RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000538899ENST00000367798RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000538899ENST00000488690RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000538899ENST00000528103RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000538899ENST00000531527RNGTTchr6

89479493

-AHI1chr6

135606785

-
5CDS-intronENST00000538899ENST00000534469RNGTTchr6

89479493

-AHI1chr6

135606785

-
Frame-shiftENST00000265607ENST00000457866RNGTTchr6

89479493

-AHI1chr6

135606785

-
Frame-shiftENST00000369475ENST00000457866RNGTTchr6

89479493

-AHI1chr6

135606785

-
Frame-shiftENST00000369485ENST00000457866RNGTTchr6

89479493

-AHI1chr6

135606785

-
Frame-shiftENST00000538899ENST00000367800RNGTTchr6

89479493

-AHI1chr6

135606785

-
Frame-shiftENST00000538899ENST00000457866RNGTTchr6

89479493

-AHI1chr6

135606785

-
In-frameENST00000265607ENST00000367800RNGTTchr6

89479493

-AHI1chr6

135606785

-
In-frameENST00000369475ENST00000367800RNGTTchr6

89479493

-AHI1chr6

135606785

-
In-frameENST00000369485ENST00000367800RNGTTchr6

89479493

-AHI1chr6

135606785

-

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)
ENST00000369485RNGTTchr689479493-ENST00000367800AHI1chr6135606785-374216261511647498
ENST00000265607RNGTTchr689479493-ENST00000367800AHI1chr6135606785-370615901841611475
ENST00000369475RNGTTchr689479493-ENST00000367800AHI1chr6135606785-370715911161612498

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
ENST00000369485ENST00000367800RNGTTchr689479493-AHI1chr6135606785-7.58E-050.9999242
ENST00000265607ENST00000367800RNGTTchr689479493-AHI1chr6135606785-9.62E-050.9999038
ENST00000369475ENST00000367800RNGTTchr689479493-AHI1chr6135606785-7.59E-050.99992406

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Fusion Genomic Features for RNGTT-AHI1


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.
genomic feature

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 RNGTT-AHI1


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/chr6:89479493/chr6:135606785)
- 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
.AHI1

Q8N157

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}.

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
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-1215195_205456575.0Compositional biasNote=Asp/Glu-rich
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-1316195_205479598.0Compositional biasNote=Asp/Glu-rich
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-121525_183456575.0DomainTyrosine-protein phosphatase
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-131625_183479598.0DomainTyrosine-protein phosphatase
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-1215343_345456575.0Nucleotide bindingGTP
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-1316343_345479598.0Nucleotide bindingGTP
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-1316458_460479598.0Nucleotide bindingGTP
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-12151_212456575.0RegionNote=TPase
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-13161_212479598.0RegionNote=TPase
TgeneAHI1chr6:89479493chr6:135606785ENST0000032703502313_4501054.0Coiled coilOntology_term=ECO:0000255
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023234_23901054.0Compositional biasNote=Poly-Lys
TgeneAHI1chr6:89479493chr6:135606785ENST000003270350231051_111101054.0DomainSH3
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023607_64901054.0RepeatNote=WD 1
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023652_69101054.0RepeatNote=WD 2
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023695_73501054.0RepeatNote=WD 3
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023742_78101054.0RepeatNote=WD 4
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023797_83701054.0RepeatNote=WD 5
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023841_88001054.0RepeatNote=WD 6
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023885_92601054.0RepeatNote=WD 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-1215458_460456575.0Nucleotide bindingGTP
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-1215528_533456575.0Nucleotide bindingGTP
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-1316528_533479598.0Nucleotide bindingGTP
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-1215229_597456575.0RegionNote=GTase
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-1316229_597479598.0RegionNote=GTase
TgeneAHI1chr6:89479493chr6:135606785ENST00000367800252713_4511961197.0Coiled coilOntology_term=ECO:0000255
TgeneAHI1chr6:89479493chr6:135606785ENST00000457866262813_4511961197.0Coiled coilOntology_term=ECO:0000255
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527234_23911961197.0Compositional biasNote=Poly-Lys
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628234_23911961197.0Compositional biasNote=Poly-Lys
TgeneAHI1chr6:89479493chr6:135606785ENST0000036780025271051_111111961197.0DomainSH3
TgeneAHI1chr6:89479493chr6:135606785ENST0000045786626281051_111111961197.0DomainSH3
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527607_64911961197.0RepeatNote=WD 1
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527652_69111961197.0RepeatNote=WD 2
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527695_73511961197.0RepeatNote=WD 3
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527742_78111961197.0RepeatNote=WD 4
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527797_83711961197.0RepeatNote=WD 5
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527841_88011961197.0RepeatNote=WD 6
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527885_92611961197.0RepeatNote=WD 7
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628607_64911961197.0RepeatNote=WD 1
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628652_69111961197.0RepeatNote=WD 2
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628695_73511961197.0RepeatNote=WD 3
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628742_78111961197.0RepeatNote=WD 4
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628797_83711961197.0RepeatNote=WD 5
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628841_88011961197.0RepeatNote=WD 6
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628885_92611961197.0RepeatNote=WD 7


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Fusion Gene Sequence for RNGTT-AHI1


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.
>75146_75146_1_RNGTT-AHI1_RNGTT_chr6_89479493_ENST00000265607_AHI1_chr6_135606785_ENST00000367800_length(transcript)=3706nt_BP=1590nt
GAAGTTGCGGTGCATTGTGGGTTCTCCTGGAGCTGTGGAGTTGATCCTGAATGAAAGTGGCGCGCCGCCCCTGACGTTACCCGGATCGGA
GAGGTTGGAATTCAGATTACGGCTGCGATTCGGGTGTCTCGGACCCCGGTGTGCACCGGACCACGGGGAGGCGGCTCCAAAGGCGCGGTG
AACGTTGGTGAGGGAGGGCAGCTCTGCGCAGCCCCAAGACATGGCTCACAACAAGATCCCGCCGCGGTGGCTGAACTGTCCCCGGCGCGG
CCAGCCGGTGGCAGGAAGATTCTTACCTCTGAAGACAATGTTAGGACCAAGATATGATAGTCAAGTTGCTGAAGAAAATCGGTTCCATCC
CAGCATGCTCTCAAATTACCTAAAGAGCCTAAAGGTTAAAATGGGCTTGTTGGTGGACCTGACAAATACTTCAAGGTTCTATGACCGAAA
TGACATAGAAAAAGAAGGAATCAAATATATAAAACTTCAGTGTAAAGGACATGGTGAGTGCCCTACCACTGAGAATACTGAGACCTTTAT
TCGTCTGTGTGAGCGGTTTAATGAAAGAAATCCACCTGAACTTATAGGTGTTCATTGTACTCATGGCTTCAATCGCACTGGTTTCCTCAT
ATGTGCCTTTTTGGTGGAGAAAATGGATTGGAGTATCGAAGCAGCAGTTGCTACTTTTGCCCAAGCCAGACCACCAGGAATCTACAAGGG
TGATTATTTGAAGGAACTTTTTCGTCGGTATGGTGACATAGAGGAAGCACCACCCCCACCTCTATTGCCAGATTGGTGTTTTGAGGATGA
TGAAGACGAAGATGAGGATGAGGATGGAAAGAAGGAATCAGAACCCGGGTCAAGTGCTTCTTTTGGCAAAAGGAGAAAAGAACGGTTAAA
ACTGGGCGCTATTTTCTTGGAAGGTGTTACTGTTAAAGGTGTAACTCAAGTAACAACACAACCAAAGTTAGGAGAGGTACAGCAGAAGTG
TCATCAATTCTGTGGCTGGGAAGGGTCTGGATTCCCTGGAGCACAGCCTGTTTCCATGGACAAGCAAAATATTAAACTTTTAGACCTGAA
GCCATACAAAGTAAGCTGGAAAGCAGATGGTACTCGGTACATGATGTTGATTGATGGCACAAATGAAGTTTTTATGATTGATAGAGACAA
TTCAGTATTTCATGTTTCAAATCTGGAATTTCCATTTCGTAAAGATCTTCGTATGCATTTATCAAATACTCTCTTGGATGGCGAGATGAT
TATTGACAGAGTAAATGGACAGGCTGTTCCTAGATATTTGATATATGACATAATTAAATTCAATTCACAGCCCGTTGGAGATTGTGATTT
TAATGTTCGTCTGCAGTGTATAGAACGAGAAATTATAAGTCCTCGACACGAAAAAATGAAGACTGGGCTCATTGACAAAACACAGGAACC
ATTTAGCGTCAGAAATAAGCCGTTTTTTGACATCTGTACTTCAAGAAAGAAATACAAACCTGGTCGATGTGATGATATTTTGAAATGGAA
GCCTCCCAGTCTGAATTCTGTGGATTTTCGTCTAAAAATAACAAGAATGGGAGGAGAAGGTAAAGAATTGAAGAAAAGTTAAGAGCTGCC
GAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCAC
TACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAA
ACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGA
AGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTAT
ATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACT
GGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCT
GACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAG
GAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCT
CCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCAAAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTT
CTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAACTTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACA
ATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTAAGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTT
AATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTCTAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTG
AAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTGACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTA
ACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCCAAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAA
TGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTGTGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCAC
ATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAACTTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAAC
TGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCACTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTAC
AGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTTTTTCTGTCTTGTGAATGCACTTGATAATTTAAAAATAAAAATATC
TGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGATTTTCTGATTGAATCACCAAGAATTTCAACAAGTTTAGAAATAATT
TAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAAGCTCTTGATGTTTATATGAAAAATAAAGGGTTGTTTTTATATTGC
AACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAATTTGGCTCTACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTG
ACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGATGTTTCTTTACCACACAATCTGAGATGAGATGGGGTGGGGGAGAT
CATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCAGAAAATCAGACACCAGAATCCATTTGATGATGTACGGCATTAAAC

>75146_75146_1_RNGTT-AHI1_RNGTT_chr6_89479493_ENST00000265607_AHI1_chr6_135606785_ENST00000367800_length(amino acids)=475AA_BP=
MVREGSSAQPQDMAHNKIPPRWLNCPRRGQPVAGRFLPLKTMLGPRYDSQVAEENRFHPSMLSNYLKSLKVKMGLLVDLTNTSRFYDRND
IEKEGIKYIKLQCKGHGECPTTENTETFIRLCERFNERNPPELIGVHCTHGFNRTGFLICAFLVEKMDWSIEAAVATFAQARPPGIYKGD
YLKELFRRYGDIEEAPPPPLLPDWCFEDDEDEDEDEDGKKESEPGSSASFGKRRKERLKLGAIFLEGVTVKGVTQVTTQPKLGEVQQKCH
QFCGWEGSGFPGAQPVSMDKQNIKLLDLKPYKVSWKADGTRYMMLIDGTNEVFMIDRDNSVFHVSNLEFPFRKDLRMHLSNTLLDGEMII
DRVNGQAVPRYLIYDIIKFNSQPVGDCDFNVRLQCIEREIISPRHEKMKTGLIDKTQEPFSVRNKPFFDICTSRKKYKPGRCDDILKWKP

--------------------------------------------------------------
>75146_75146_2_RNGTT-AHI1_RNGTT_chr6_89479493_ENST00000369475_AHI1_chr6_135606785_ENST00000367800_length(transcript)=3707nt_BP=1591nt
CCCTGACGTTACCCGGATCGGAGAGGTTGGAATTCAGATTACGGCTGCGATTCGGGTGTCTCGGACCCCGGTGTGCACCGGACCACGGGG
AGGCGGCTCCAAAGGCGCGGTGAACGTTGGTGAGGGAGGGCAGCTCTGCGCAGCCCCAAGACATGGCTCACAACAAGATCCCGCCGCGGT
GGCTGAACTGTCCCCGGCGCGGCCAGCCGGTGGCAGGAAGATTCTTACCTCTGAAGACAATGTTAGGACCAAGATATGATAGTCAAGTTG
CTGAAGAAAATCGGTTCCATCCCAGCATGCTCTCAAATTACCTAAAGAGCCTAAAGGTTAAAATGGGCTTGTTGGTGGACCTGACAAATA
CTTCAAGGTTCTATGACCGAAATGACATAGAAAAAGAAGGAATCAAATATATAAAACTTCAGTGTAAAGGACATGGTGAGTGCCCTACCA
CTGAGAATACTGAGACCTTTATTCGTCTGTGTGAGCGGTTTAATGAAAGAAATCCACCTGAACTTATAGGTGTTCATTGTACTCATGGCT
TCAATCGCACTGGTTTCCTCATATGTGCCTTTTTGGTGGAGAAAATGGATTGGAGTATCGAAGCAGCAGTTGCTACTTTTGCCCAAGCCA
GACCACCAGGAATCTACAAGGGTGATTATTTGAAGGAACTTTTTCGTCGGTATGGTGACATAGAGGAAGCACCACCCCCACCTCTATTGC
CAGATTGGTGTTTTGAGGATGATGAAGACGAAGATGAGGATGAGGATGGAAAGAAGGAATCAGAACCCGGGTCAAGTGCTTCTTTTGGCA
AAAGGAGAAAAGAACGGTTAAAACTGGGCGCTATTTTCTTGGAAGGTGTTACTGTTAAAGGTGTAACTCAAGTAACAACACAACCAAAGT
TAGGAGAGGTACAGCAGAAGTGTCATCAATTCTGTGGCTGGGAAGGGTCTGGATTCCCTGGAGCACAGCCTGTTTCCATGGACAAGCAAA
ATATTAAACTTTTAGACCTGAAGCCATACAAAGTAAGCTGGAAAGCAGATGGTACTCGGTACATGATGTTGATTGATGGCACAAATGAAG
TTTTTATGATTGATAGAGACAATTCAGTATTTCATGTTTCAAATCTGGAATTTCCATTTCGTAAAGATCTTCGTATGCATTTATCAAATA
CTCTCTTGGATGGCGAGATGATTATTGACAGAGTAAATGGACAGGCTGTTCCTAGATATTTGATATATGACATAATTAAATTCAATTCAC
AGCCCGTTGGAGATTGTGATTTTAATGTTCGTCTGCAGTGTATAGAACGAGAAATTATAAGTCCTCGACACGAAAAAATGAAGACTGGGC
TCATTGACAAAACACAGGAACCATTTAGCGTCAGAAATAAGCCGTTTTTTGACATCTGTACTTCAAGAAAGCTACTTGAAGGAAATTTTG
CCAAAGAAGTGAGCCATGAAATGGATGGACTTATTTTTCAGCCTACTGGAAAATACAAACCTGGTCGATGTGATGATATTTTGAAATGGA
AGCCTCCCAGTCTGAATTCTGTGGATTTTCGTCTAAAAATAACAAGAATGGGAGGAGAAGGTAAAGAATTGAAGAAAAGTTAAGAGCTGC
CGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCA
CTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATA
AACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATG
AAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTA
TATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGAC
TGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCC
TGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCA
GGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATC
TCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCAAAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTT
TCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAACTTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAAC
AATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTAAGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTT
TAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTCTAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTT
GAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTGACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTT
AACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCCAAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACA
ATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTGTGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCA
CATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAACTTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAA
CTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCACTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTA
CAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTTTTTCTGTCTTGTGAATGCACTTGATAATTTAAAAATAAAAATAT
CTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGATTTTCTGATTGAATCACCAAGAATTTCAACAAGTTTAGAAATAAT
TTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAAGCTCTTGATGTTTATATGAAAAATAAAGGGTTGTTTTTATATTG
CAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAATTTGGCTCTACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCT
GACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGATGTTTCTTTACCACACAATCTGAGATGAGATGGGGTGGGGGAGA
TCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCAGAAAATCAGACACCAGAATCCATTTGATGATGTACGGCATTAAA

>75146_75146_2_RNGTT-AHI1_RNGTT_chr6_89479493_ENST00000369475_AHI1_chr6_135606785_ENST00000367800_length(amino acids)=498AA_BP=
MVREGSSAQPQDMAHNKIPPRWLNCPRRGQPVAGRFLPLKTMLGPRYDSQVAEENRFHPSMLSNYLKSLKVKMGLLVDLTNTSRFYDRND
IEKEGIKYIKLQCKGHGECPTTENTETFIRLCERFNERNPPELIGVHCTHGFNRTGFLICAFLVEKMDWSIEAAVATFAQARPPGIYKGD
YLKELFRRYGDIEEAPPPPLLPDWCFEDDEDEDEDEDGKKESEPGSSASFGKRRKERLKLGAIFLEGVTVKGVTQVTTQPKLGEVQQKCH
QFCGWEGSGFPGAQPVSMDKQNIKLLDLKPYKVSWKADGTRYMMLIDGTNEVFMIDRDNSVFHVSNLEFPFRKDLRMHLSNTLLDGEMII
DRVNGQAVPRYLIYDIIKFNSQPVGDCDFNVRLQCIEREIISPRHEKMKTGLIDKTQEPFSVRNKPFFDICTSRKLLEGNFAKEVSHEMD

--------------------------------------------------------------
>75146_75146_3_RNGTT-AHI1_RNGTT_chr6_89479493_ENST00000369485_AHI1_chr6_135606785_ENST00000367800_length(transcript)=3742nt_BP=1626nt
TGTGGAGTTGATCCTGAATGAAAGTGGCGCGCCGCCCCTGACGTTACCCGGATCGGAGAGGTTGGAATTCAGATTACGGCTGCGATTCGG
GTGTCTCGGACCCCGGTGTGCACCGGACCACGGGGAGGCGGCTCCAAAGGCGCGGTGAACGTTGGTGAGGGAGGGCAGCTCTGCGCAGCC
CCAAGACATGGCTCACAACAAGATCCCGCCGCGGTGGCTGAACTGTCCCCGGCGCGGCCAGCCGGTGGCAGGAAGATTCTTACCTCTGAA
GACAATGTTAGGACCAAGATATGATAGTCAAGTTGCTGAAGAAAATCGGTTCCATCCCAGCATGCTCTCAAATTACCTAAAGAGCCTAAA
GGTTAAAATGGGCTTGTTGGTGGACCTGACAAATACTTCAAGGTTCTATGACCGAAATGACATAGAAAAAGAAGGAATCAAATATATAAA
ACTTCAGTGTAAAGGACATGGTGAGTGCCCTACCACTGAGAATACTGAGACCTTTATTCGTCTGTGTGAGCGGTTTAATGAAAGAAATCC
ACCTGAACTTATAGGTGTTCATTGTACTCATGGCTTCAATCGCACTGGTTTCCTCATATGTGCCTTTTTGGTGGAGAAAATGGATTGGAG
TATCGAAGCAGCAGTTGCTACTTTTGCCCAAGCCAGACCACCAGGAATCTACAAGGGTGATTATTTGAAGGAACTTTTTCGTCGGTATGG
TGACATAGAGGAAGCACCACCCCCACCTCTATTGCCAGATTGGTGTTTTGAGGATGATGAAGACGAAGATGAGGATGAGGATGGAAAGAA
GGAATCAGAACCCGGGTCAAGTGCTTCTTTTGGCAAAAGGAGAAAAGAACGGTTAAAACTGGGCGCTATTTTCTTGGAAGGTGTTACTGT
TAAAGGTGTAACTCAAGTAACAACACAACCAAAGTTAGGAGAGGTACAGCAGAAGTGTCATCAATTCTGTGGCTGGGAAGGGTCTGGATT
CCCTGGAGCACAGCCTGTTTCCATGGACAAGCAAAATATTAAACTTTTAGACCTGAAGCCATACAAAGTAAGCTGGAAAGCAGATGGTAC
TCGGTACATGATGTTGATTGATGGCACAAATGAAGTTTTTATGATTGATAGAGACAATTCAGTATTTCATGTTTCAAATCTGGAATTTCC
ATTTCGTAAAGATCTTCGTATGCATTTATCAAATACTCTCTTGGATGGCGAGATGATTATTGACAGAGTAAATGGACAGGCTGTTCCTAG
ATATTTGATATATGACATAATTAAATTCAATTCACAGCCCGTTGGAGATTGTGATTTTAATGTTCGTCTGCAGTGTATAGAACGAGAAAT
TATAAGTCCTCGACACGAAAAAATGAAGACTGGGCTCATTGACAAAACACAGGAACCATTTAGCGTCAGAAATAAGCCGTTTTTTGACAT
CTGTACTTCAAGAAAGCTACTTGAAGGAAATTTTGCCAAAGAAGTGAGCCATGAAATGGATGGACTTATTTTTCAGCCTACTGGAAAATA
CAAACCTGGTCGATGTGATGATATTTTGAAATGGAAGCCTCCCAGTCTGAATTCTGTGGATTTTCGTCTAAAAATAACAAGAATGGGAGG
AGAAGGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCA
GAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGG
AAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGC
ATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTAT
TAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTT
TGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTG
GATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCT
CATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATT
GCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCAAAACAGTCT
CAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAACTTCATAGAC
CTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTAAGCACATAC
CTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTCTAAGTTCCA
GAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTGACTCCTTTC
TCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCCAAATTAGAC
AGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTGTGAAATATC
TTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAACTTTAAAAAA
AAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCACTGAGTTTT
CATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTTTTTCTGTCT
TGTGAATGCACTTGATAATTTAAAAATAAAAATATCTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGATTTTCTGATT
GAATCACCAAGAATTTCAACAAGTTTAGAAATAATTTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAAGCTCTTGAT
GTTTATATGAAAAATAAAGGGTTGTTTTTATATTGCAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAATTTGGCTCT
ACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTGACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGATGTTTCTTT
ACCACACAATCTGAGATGAGATGGGGTGGGGGAGATCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCAGAAAATCAG

>75146_75146_3_RNGTT-AHI1_RNGTT_chr6_89479493_ENST00000369485_AHI1_chr6_135606785_ENST00000367800_length(amino acids)=498AA_BP=
MVREGSSAQPQDMAHNKIPPRWLNCPRRGQPVAGRFLPLKTMLGPRYDSQVAEENRFHPSMLSNYLKSLKVKMGLLVDLTNTSRFYDRND
IEKEGIKYIKLQCKGHGECPTTENTETFIRLCERFNERNPPELIGVHCTHGFNRTGFLICAFLVEKMDWSIEAAVATFAQARPPGIYKGD
YLKELFRRYGDIEEAPPPPLLPDWCFEDDEDEDEDEDGKKESEPGSSASFGKRRKERLKLGAIFLEGVTVKGVTQVTTQPKLGEVQQKCH
QFCGWEGSGFPGAQPVSMDKQNIKLLDLKPYKVSWKADGTRYMMLIDGTNEVFMIDRDNSVFHVSNLEFPFRKDLRMHLSNTLLDGEMII
DRVNGQAVPRYLIYDIIKFNSQPVGDCDFNVRLQCIEREIISPRHEKMKTGLIDKTQEPFSVRNKPFFDICTSRKLLEGNFAKEVSHEMD

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

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Fusion Gene PPI Analysis for RNGTT-AHI1


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
HgeneRNGTTchr6:89479493chr6:135606785ENST00000265607-1215330_386456.6666666666667575.0POLR2A
HgeneRNGTTchr6:89479493chr6:135606785ENST00000369485-1316330_386479.6666666666667598.0POLR2A
TgeneAHI1chr6:89479493chr6:135606785ENST00000327035023141_43401054.0HAP1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneAHI1chr6:89479493chr6:135606785ENST000003678002527141_4341196.01197.0HAP1
TgeneAHI1chr6:89479493chr6:135606785ENST000004578662628141_4341196.01197.0HAP1


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 RNGTT-AHI1


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 RNGTT-AHI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource