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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:RTEL1-KCNH3 (FusionGDB2 ID:78506)

Fusion Gene Summary for RTEL1-KCNH3

check button Fusion gene summary
Fusion gene informationFusion gene name: RTEL1-KCNH3
Fusion gene ID: 78506
HgeneTgene
Gene symbol

RTEL1

KCNH3

Gene ID

51750

23416

Gene nameregulator of telomere elongation helicase 1potassium voltage-gated channel subfamily H member 3
SynonymsC20orf41|DKCA4|DKCB5|NHL|PFBMFT3|RTELBEC1|ELK2|Kv12.2
Cytomap

20q13.33

12q13.12

Type of geneprotein-codingprotein-coding
Descriptionregulator of telomere elongation helicase 1regulator of telomere lengthpotassium voltage-gated channel subfamily H member 3ELK channel 2brain-specific eag-like channel 1ether-a-go-go K(+) channel family memberether-a-go-go-like potassium channel 2potassium channel, voltage gated eag related subfamily H, member 3potassi
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000318100, ENST00000360203, 
ENST00000370018, ENST00000508582, 
ENST00000370003, ENST00000488316, 
ENST00000550434, ENST00000257981, 
Fusion gene scores* DoF score2 X 3 X 2=122 X 3 X 2=12
# samples 33
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RTEL1 [Title/Abstract] AND KCNH3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRTEL1(62294242)-KCNH3(49934682), # 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 RTEL1 (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 KCNH3 (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
ChimerDB4ACCTCGA-OR-A5JP-01ARTEL1chr20

62294242

+KCNH3chr12

49934682

+


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Fusion Gene ORF analysis for RTEL1-KCNH3

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-intronENST00000318100ENST00000550434RTEL1chr20

62294242

+KCNH3chr12

49934682

+
5CDS-intronENST00000360203ENST00000550434RTEL1chr20

62294242

+KCNH3chr12

49934682

+
5CDS-intronENST00000370018ENST00000550434RTEL1chr20

62294242

+KCNH3chr12

49934682

+
5CDS-intronENST00000508582ENST00000550434RTEL1chr20

62294242

+KCNH3chr12

49934682

+
In-frameENST00000318100ENST00000257981RTEL1chr20

62294242

+KCNH3chr12

49934682

+
In-frameENST00000360203ENST00000257981RTEL1chr20

62294242

+KCNH3chr12

49934682

+
In-frameENST00000370018ENST00000257981RTEL1chr20

62294242

+KCNH3chr12

49934682

+
In-frameENST00000508582ENST00000257981RTEL1chr20

62294242

+KCNH3chr12

49934682

+
intron-3CDSENST00000370003ENST00000257981RTEL1chr20

62294242

+KCNH3chr12

49934682

+
intron-3CDSENST00000488316ENST00000257981RTEL1chr20

62294242

+KCNH3chr12

49934682

+
intron-intronENST00000370003ENST00000550434RTEL1chr20

62294242

+KCNH3chr12

49934682

+
intron-intronENST00000488316ENST00000550434RTEL1chr20

62294242

+KCNH3chr12

49934682

+

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)
ENST00000370018RTEL1chr2062294242+ENST00000257981KCNH3chr1249934682+4896136582745401237
ENST00000318100RTEL1chr2062294242+ENST00000257981KCNH3chr1249934682+4896136582745401237
ENST00000508582RTEL1chr2062294242+ENST00000257981KCNH3chr1249934682+448795634641311261
ENST00000360203RTEL1chr2062294242+ENST00000257981KCNH3chr1249934682+439486332540381237

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
ENST00000370018ENST00000257981RTEL1chr2062294242+KCNH3chr1249934682+0.0112255030.98877454
ENST00000318100ENST00000257981RTEL1chr2062294242+KCNH3chr1249934682+0.0112255030.98877454
ENST00000508582ENST00000257981RTEL1chr2062294242+KCNH3chr1249934682+0.0063365310.99366343
ENST00000360203ENST00000257981RTEL1chr2062294242+KCNH3chr1249934682+0.0062696980.9937303

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Fusion Genomic Features for RTEL1-KCNH3


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)
RTEL1chr2062294242+KCNH3chr1249934681+0.000690810.9993092
RTEL1chr2062294242+KCNH3chr1249934681+0.000690810.9993092

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.
genomic feature of top 1%

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Fusion Protein Features for RTEL1-KCNH3


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/chr20:62294242/chr12:49934682)
- 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
..
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: 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}.

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
HgeneRTEL1chr20:62294242chr12:49934682ENST00000360203+635151_1671791301.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370018+635151_1671791220.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000508582+635151_1672031244.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000360203+63542_491791301.0Nucleotide bindingATP
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370018+63542_491791220.0Nucleotide bindingATP
HgeneRTEL1chr20:62294242chr12:49934682ENST00000508582+63542_492031244.0Nucleotide bindingATP
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015951_1057251084.0Compositional biasNote=Pro-rich
TgeneKCNH3chr20:62294242chr12:49934682ENST0000025798101593_145251084.0DomainPAC
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015454_474251084.0IntramembranePore-forming%3B Name%3DSegment H5
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015465_470251084.0MotifSelectivity filter
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015582_697251084.0Nucleotide bindingNote=cNMP
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015250_259251084.0Topological domainExtracellular
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015281_302251084.0Topological domainCytoplasmic
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015324_331251084.0Topological domainExtracellular
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015353_361251084.0Topological domainCytoplasmic
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015383_453251084.0Topological domainExtracellular
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015475_479251084.0Topological domainExtracellular
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015501_1083251084.0Topological domainCytoplasmic
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015229_249251084.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015260_280251084.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015303_323251084.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015332_352251084.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015362_382251084.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNH3chr20:62294242chr12:49934682ENST00000257981015480_500251084.0TransmembraneHelical%3B Name%3DSegment S6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRTEL1chr20:62294242chr12:49934682ENST00000360203+6357_2961791301.0DomainHelicase ATP-binding
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370003+1117_2960546.0DomainHelicase ATP-binding
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370018+6357_2961791220.0DomainHelicase ATP-binding
HgeneRTEL1chr20:62294242chr12:49934682ENST00000508582+6357_2962031244.0DomainHelicase ATP-binding
HgeneRTEL1chr20:62294242chr12:49934682ENST00000360203+6351178_11851791301.0MotifNote=PIP-box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000360203+635250_2531791301.0MotifNote=DEAH box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000360203+635871_8771791301.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370003+1111178_11850546.0MotifNote=PIP-box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370003+111151_1670546.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370003+111250_2530546.0MotifNote=DEAH box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370003+111871_8770546.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370018+6351178_11851791220.0MotifNote=PIP-box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370018+635250_2531791220.0MotifNote=DEAH box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370018+635871_8771791220.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000508582+6351178_11852031244.0MotifNote=PIP-box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000508582+635250_2532031244.0MotifNote=DEAH box
HgeneRTEL1chr20:62294242chr12:49934682ENST00000508582+635871_8772031244.0MotifNuclear localization signal
HgeneRTEL1chr20:62294242chr12:49934682ENST00000370003+11142_490546.0Nucleotide bindingATP
TgeneKCNH3chr20:62294242chr12:49934682ENST0000025798101518_90251084.0DomainPAS
TgeneKCNH3chr20:62294242chr12:49934682ENST000002579810151_228251084.0Topological domainCytoplasmic


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Fusion Gene Sequence for RTEL1-KCNH3


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.
>78506_78506_1_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000318100_KCNH3_chr12_49934682_ENST00000257981_length(transcript)=4896nt_BP=1365nt
AGTCAGCCCTGCTGCCAGCCAGTGCCGGGTGCTGGGGACTCAGGGAGGCCCGCCGGGACCACTGCGGGACAGTGAGCCGAGCAGAAGCTG
GAACGCAGGAGAGGAAGGAGAGGGGGCGGTCAGGGCTCTCAGGAGCCGGGTCCTGGGCAAGGCGCAGCCGTTTTCAAATTTTCAGGAAAG
CGGTCGGCTCACACTCGAGCAGTAAAAAGATGCCTCTGGGGAGGAGGCCCGTGCAGCTCTCCGGGCAATGGTGGTGGCTCGGCCTAGAGA
GGCGGTAGTGGAACGCAGACCCTGGTGGGGGAATGACATCAAGGGAGGAGACGGGCGGGACCCCAGATTTCTGCCTGTGGGCGATGGAAG
TGAGGTTCACTGGCCAGCGGAGCCGGACACAGAACGCGCAAAACGCCGTGTAGGCCTGGAGGAGCCGAAGAGCAGGCGGACCCCCTCCGC
GGGGGAACAGTTTCCGCCGGGAGCACAAAGCAACGGACCGGAAGTGGGGGGCGGAAGTGCAGTGGGCTCAGCGCCGACTGCGCGCCTCTG
CCCGCGAAAACTCTGAGCTGGCTGACAGCTGGGGACGGGTGGCGGCCCTCGACTGGAGTCGGTTGAGTTCCTGAGGGACCCCGGTTCTGG
AAGGTTCGCCGCGGAGACAAGTGAGCAGTCTGTGCCATAGGGATTCTCGAAGAGAACAGCGTTGTGTCCCAGTGCACATGCTCGCATCGC
TTACCAGGAGTGCCCGAGACCCTAAGATGTTCGGAGTGGTTTTTTCGCACAGACCCGAATAGCCTGCCCCTCAGCCACGCTCTGTGCCCT
TCTGAGAACAGGCTGATATGCCCAAGATAGTCCTGAATGGTGTGACCGTAGACTTCCCTTTCCAGCCCTACAAATGCCAACAGGAGTACA
TGACCAAGGTCCTGGAATGTCTGCAGCAGAAGGTGAATGGCATCCTGGAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCA
CCACGCTGGCCTGGCGAGAACACCTCCGAGACGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTTTTCCCGGATCGGG
CCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATAGCTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGA
CCCACTCGCAACTCACACAGGTCATCAACGAGCTTCGGAACACCTCCTACCGGCCTAAGGTGTGTGTGCTGGGCTCCCGGGAGCAGCTGT
GCATCCATCCTGAGGTGAAGAAACAAGAGAGTAACCATCTACAGATCCACTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCT
ACAACAACGTAGAAGACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTG
ACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCC
AACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGATCCTGTACCGGAAGAGCGGGCTCCCGTTCTGGTGTCTCC
TGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGG
GCCCCGACAGATGGAAGGAGACAGGTGGTGGCCGGCGCCGATATGGCCGGGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCC
GGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAAGCACAAGCTCAATAAGGGGGTGTTTGGGGAGAAACCAA
ACTTGCCTGAGTACAAAGTAGCCGCCATCCGGAAGTCGCCCTTCATCCTGTTGCACTGTGGGGCACTGAGAGCCACCTGGGATGGCTTCA
TCCTGCTCGCCACACTCTATGTGGCTGTCACTGTGCCCTACAGCGTGTGTGTGAGCACAGCACGGGAGCCCAGTGCCGCCCGCGGCCCGC
CCAGCGTCTGTGACCTGGCCGTGGAGGTCCTCTTCATCCTTGACATTGTGCTGAATTTCCGTACCACATTCGTGTCCAAGTCGGGCCAGG
TGGTGTTTGCCCCAAAGTCCATTTGCCTCCACTACGTCACCACCTGGTTCCTGCTGGATGTCATCGCAGCGCTGCCCTTTGACCTGCTAC
ATGCCTTCAAGGTCAACGTGTACTTCGGGGCCCATCTGCTGAAGACGGTGCGCCTGCTGCGCCTGCTGCGCCTGCTTCCGCGGCTGGACC
GGTACTCGCAGTACAGCGCCGTGGTGCTGACACTGCTCATGGCCGTGTTCGCCCTGCTCGCGCACTGGGTCGCCTGCGTCTGGTTTTACA
TTGGCCAGCGGGAGATCGAGAGCAGCGAATCCGAGCTGCCTGAGATTGGCTGGCTGCAGGAGCTGGCCCGCCGACTGGAGACTCCCTACT
ACCTGGTGGGCCGGAGGCCAGCTGGAGGGAACAGCTCCGGCCAGAGTGACAACTGCAGCAGCAGCAGCGAGGCCAACGGGACGGGGCTGG
AGCTGCTGGGCGGCCCGTCGCTGCGCAGCGCCTACATCACCTCCCTCTACTTCGCACTCAGCAGCCTCACCAGCGTGGGCTTCGGCAACG
TGTCCGCCAACACGGACACCGAGAAGATCTTCTCCATCTGCACCATGCTCATCGGCGCCCTGATGCACGCGGTGGTGTTTGGGAACGTGA
CGGCCATCATCCAGCGCATGTACGCCCGCCGCTTTCTGTACCACAGCCGCACGCGCGACCTGCGCGACTACATCCGCATCCACCGTATCC
CCAAGCCCCTCAAGCAGCGCATGCTGGAGTACTTCCAGGCCACCTGGGCGGTGAACAATGGCATCGACACCACCGAGCTGCTGCAGAGCC
TCCCTGACGAGCTGCGCGCAGACATCGCCATGCACCTGCACAAGGAGGTCCTGCAGCTGCCACTGTTTGAGGCGGCCAGCCGCGGCTGCC
TGCGGGCACTGTCTCTGGCCCTGCGGCCCGCCTTCTGCACGCCGGGCGAGTACCTCATCCACCAAGGCGATGCCCTGCAGGCCCTCTACT
TTGTCTGCTCTGGCTCCATGGAGGTGCTCAAGGGTGGCACCGTGCTCGCCATCCTAGGGAAGGGCGACCTGATCGGCTGTGAGCTGCCCC
GGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTACTGCGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACA
GCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCGAGGGGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTG
CAGAGGTGGACACCAGCTCCCTGAGCGGCGACAATACCCTTATGTCCACGCTGGAGGAGAAGGAGACAGATGGGGAGCAGGGCCCCACGG
TCTCCCCAGCCCCAGCTGATGAGCCCTCCAGCCCCCTGCTGTCCCCTGGCTGCACCTCCTCATCCTCAGCTGCCAAGCTGCTATCCCCAC
GTCGAACAGCACCCCGGCCTCGTCTAGGTGGCAGAGGGAGGCCAGGCAGGGCAGGGGCTTTGAAGGCTGAGGCTGGCCCCTCTGCTCCCC
CACGGGCCCTAGAGGGGCTACGGCTGCCCCCCATGCCATGGAATGTGCCCCCAGATCTGAGCCCCAGGGTAGTAGATGGCATTGAAGACG
GCTGTGGCTCGGACCAGCCCAAGTTCTCTTTCCGCGTGGGCCAGTCTGGCCCGGAATGTAGCAGCAGCCCCTCCCCTGGACCAGAGAGCG
GCCTGCTCACTGTTCCCCATGGGCCCAGCGAGGCAAGGAACACAGACACACTGGACAAGCTTCGGCAGGCGGTGACAGAGCTGTCAGAGC
AGGTGCTGCAGATGCGGGAAGGACTGCAGTCACTTCGCCAGGCTGTGCAGCTTGTCCTGGCGCCCCACAGGGAGGGTCCGTGCCCTCGGG
CATCGGGAGAGGGGCCGTGCCCAGCCAGCACCTCCGGGCTTCTGCAGCCTCTGTGTGTGGACACTGGGGCATCCTCCTACTGCCTGCAGC
CCCCAGCTGGCTCTGTCTTGAGTGGGACTTGGCCCCACCCTCGTCCGGGGCCTCCTCCCCTCATGGCACCCTGGCCCTGGGGTCCCCCAG
CGTCTCAGAGCTCCCCCTGGCCTCGAGCCACAGCTTTCTGGACCTCCACCTCAGACTCAGAGCCCCCTGCCTCAGGAGACCTCTGCTCTG
AGCCCAGCACCCCTGCCTCCCCTCCTCCTTCTGAGGAAGGGGCTAGGACTGGGCCCGCAGAGCCTGTGAGCCAGGCTGAGGCTACCAGCA
CTGGAGAGCCCCCACCAGGGTCAGGGGGCCTGGCCTTGCCCTGGGACCCCCACAGCCTGGAGATGGTGCTTATTGGCTGCCATGGCTCTG
GCACAGTCCAGTGGACCCAGGAAGAAGGCACAGGGGTCTGAGTACCAGCCCTAGAACTCAGCGTTGCCAGGTGTGCTGCCATCTGCTGTT
CGGCCCAACCTCAGAGTGAAGGCAGGGTGGCAGCCTCCCCACGGACTCCATGCGGCCCGCTGGCTCAGGGCAGGGAGCCTGGAAGCAAAG
GAGGACCTGGCTCCTGACTCTCAGAGAGGATAGGCTGGATCCCTGGGGCAGGCCTCTCCTCGGCCTGCTCCTCTGACCTCCCGGTCTCCC
TCTGCAGGCTGGGGGCAGAGGCCTGAGGACAAGGAAGAGCTTTGCCATCCCCTGCATGTGCCCCTGCCTCTACCTGTCCCCAAATTTTTA

>78506_78506_1_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000318100_KCNH3_chr12_49934682_ENST00000257981_length(amino acids)=1237AA_BP=179
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISARKIAERAQGELFPDRALSSWG
NAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVED
SNFVLGNAQVAGLFPVVYCSDGFCDLTGFSRAEVMQRGCACSFLYGPDTSELVRQQIRKALDEHKEFKAELILYRKSGLPFWCLLDVIPI
KNEKGEVALFLVSHKDISETKNRGGPDRWKETGGGRRRYGRARSKGFNANRRRSRAVLYHLSGHLQKQPKGKHKLNKGVFGEKPNLPEYK
VAAIRKSPFILLHCGALRATWDGFILLATLYVAVTVPYSVCVSTAREPSAARGPPSVCDLAVEVLFILDIVLNFRTTFVSKSGQVVFAPK
SICLHYVTTWFLLDVIAALPFDLLHAFKVNVYFGAHLLKTVRLLRLLRLLPRLDRYSQYSAVVLTLLMAVFALLAHWVACVWFYIGQREI
ESSESELPEIGWLQELARRLETPYYLVGRRPAGGNSSGQSDNCSSSSEANGTGLELLGGPSLRSAYITSLYFALSSLTSVGFGNVSANTD
TEKIFSICTMLIGALMHAVVFGNVTAIIQRMYARRFLYHSRTRDLRDYIRIHRIPKPLKQRMLEYFQATWAVNNGIDTTELLQSLPDELR
ADIAMHLHKEVLQLPLFEAASRGCLRALSLALRPAFCTPGEYLIHQGDALQALYFVCSGSMEVLKGGTVLAILGKGDLIGCELPRREQVV
KANADVKGLTYCVLQCLQLAGLHDSLALYPEFAPRFSRGLRGELSYNLGAGGGSAEVDTSSLSGDNTLMSTLEEKETDGEQGPTVSPAPA
DEPSSPLLSPGCTSSSSAAKLLSPRRTAPRPRLGGRGRPGRAGALKAEAGPSAPPRALEGLRLPPMPWNVPPDLSPRVVDGIEDGCGSDQ
PKFSFRVGQSGPECSSSPSPGPESGLLTVPHGPSEARNTDTLDKLRQAVTELSEQVLQMREGLQSLRQAVQLVLAPHREGPCPRASGEGP
CPASTSGLLQPLCVDTGASSYCLQPPAGSVLSGTWPHPRPGPPPLMAPWPWGPPASQSSPWPRATAFWTSTSDSEPPASGDLCSEPSTPA

--------------------------------------------------------------
>78506_78506_2_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000360203_KCNH3_chr12_49934682_ENST00000257981_length(transcript)=4394nt_BP=863nt
GGAAGTGCAGTGGGCTCAGCGCCGACTGCGCGCCTCTGCCCGCGAAAACTCTGAGCTGGCTGACAGCTGGGGACGGGTGGCGGCCCTCGA
CTGGAGTCGGTTGAGTTCCTGAGGGACCCCGGTTCTGGAAGGTTCGCCGCGGAGACAAGTGAGCAGTCTGTGCCATAGGGATTCTCGAAG
AGAACAGCGTTGTGTCCCAGTGCACATGCTCGCATCGCTTACCAGGAGTGCCCGAGACCCTAAGATGTTCGGAGTGGTTTTTTCGCACAG
ACCCGAATAGCCTGCCCCTCAGCCACGCTCTGTGCCCTTCTGAGAACAGGCTGATATGCCCAAGATAGTCCTGAATGGTGTGACCGTAGA
CTTCCCTTTCCAGCCCTACAAATGCCAACAGGAGTACATGACCAAGGTCCTGGAATGTCTGCAGCAGAAGGTGAATGGCATCCTGGAGAG
CCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCACCACGCTGGCCTGGCGAGAACACCTCCGAGACGGCATCTCTGCCCGCAAGAT
TGCCGAGAGGGCGCAAGGAGAGCTTTTCCCGGATCGGGCCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATAGCTTG
CTACACGGACATCCCAAAGATTATTTACGCCTCCAGGACCCACTCGCAACTCACACAGGTCATCAACGAGCTTCGGAACACCTCCTACCG
GCCTAAGGTGTGTGTGCTGGGCTCCCGGGAGCAGCTGTGCATCCATCCTGAGGTGAAGAAACAAGAGAGTAACCATCTACAGATCCACTT
GTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCTACAACAACGTAGAAGACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGG
GCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTGACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTC
CTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCCAACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGAT
CCTGTACCGGAAGAGCGGGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGT
CTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAGGTGGTGGCCGGCGCCGATATGGCCGGGC
ACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCCGGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAA
GCACAAGCTCAATAAGGGGGTGTTTGGGGAGAAACCAAACTTGCCTGAGTACAAAGTAGCCGCCATCCGGAAGTCGCCCTTCATCCTGTT
GCACTGTGGGGCACTGAGAGCCACCTGGGATGGCTTCATCCTGCTCGCCACACTCTATGTGGCTGTCACTGTGCCCTACAGCGTGTGTGT
GAGCACAGCACGGGAGCCCAGTGCCGCCCGCGGCCCGCCCAGCGTCTGTGACCTGGCCGTGGAGGTCCTCTTCATCCTTGACATTGTGCT
GAATTTCCGTACCACATTCGTGTCCAAGTCGGGCCAGGTGGTGTTTGCCCCAAAGTCCATTTGCCTCCACTACGTCACCACCTGGTTCCT
GCTGGATGTCATCGCAGCGCTGCCCTTTGACCTGCTACATGCCTTCAAGGTCAACGTGTACTTCGGGGCCCATCTGCTGAAGACGGTGCG
CCTGCTGCGCCTGCTGCGCCTGCTTCCGCGGCTGGACCGGTACTCGCAGTACAGCGCCGTGGTGCTGACACTGCTCATGGCCGTGTTCGC
CCTGCTCGCGCACTGGGTCGCCTGCGTCTGGTTTTACATTGGCCAGCGGGAGATCGAGAGCAGCGAATCCGAGCTGCCTGAGATTGGCTG
GCTGCAGGAGCTGGCCCGCCGACTGGAGACTCCCTACTACCTGGTGGGCCGGAGGCCAGCTGGAGGGAACAGCTCCGGCCAGAGTGACAA
CTGCAGCAGCAGCAGCGAGGCCAACGGGACGGGGCTGGAGCTGCTGGGCGGCCCGTCGCTGCGCAGCGCCTACATCACCTCCCTCTACTT
CGCACTCAGCAGCCTCACCAGCGTGGGCTTCGGCAACGTGTCCGCCAACACGGACACCGAGAAGATCTTCTCCATCTGCACCATGCTCAT
CGGCGCCCTGATGCACGCGGTGGTGTTTGGGAACGTGACGGCCATCATCCAGCGCATGTACGCCCGCCGCTTTCTGTACCACAGCCGCAC
GCGCGACCTGCGCGACTACATCCGCATCCACCGTATCCCCAAGCCCCTCAAGCAGCGCATGCTGGAGTACTTCCAGGCCACCTGGGCGGT
GAACAATGGCATCGACACCACCGAGCTGCTGCAGAGCCTCCCTGACGAGCTGCGCGCAGACATCGCCATGCACCTGCACAAGGAGGTCCT
GCAGCTGCCACTGTTTGAGGCGGCCAGCCGCGGCTGCCTGCGGGCACTGTCTCTGGCCCTGCGGCCCGCCTTCTGCACGCCGGGCGAGTA
CCTCATCCACCAAGGCGATGCCCTGCAGGCCCTCTACTTTGTCTGCTCTGGCTCCATGGAGGTGCTCAAGGGTGGCACCGTGCTCGCCAT
CCTAGGGAAGGGCGACCTGATCGGCTGTGAGCTGCCCCGGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTACTG
CGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACAGCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCGAGG
GGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTGCAGAGGTGGACACCAGCTCCCTGAGCGGCGACAATACCCTTATGTCCACGCT
GGAGGAGAAGGAGACAGATGGGGAGCAGGGCCCCACGGTCTCCCCAGCCCCAGCTGATGAGCCCTCCAGCCCCCTGCTGTCCCCTGGCTG
CACCTCCTCATCCTCAGCTGCCAAGCTGCTATCCCCACGTCGAACAGCACCCCGGCCTCGTCTAGGTGGCAGAGGGAGGCCAGGCAGGGC
AGGGGCTTTGAAGGCTGAGGCTGGCCCCTCTGCTCCCCCACGGGCCCTAGAGGGGCTACGGCTGCCCCCCATGCCATGGAATGTGCCCCC
AGATCTGAGCCCCAGGGTAGTAGATGGCATTGAAGACGGCTGTGGCTCGGACCAGCCCAAGTTCTCTTTCCGCGTGGGCCAGTCTGGCCC
GGAATGTAGCAGCAGCCCCTCCCCTGGACCAGAGAGCGGCCTGCTCACTGTTCCCCATGGGCCCAGCGAGGCAAGGAACACAGACACACT
GGACAAGCTTCGGCAGGCGGTGACAGAGCTGTCAGAGCAGGTGCTGCAGATGCGGGAAGGACTGCAGTCACTTCGCCAGGCTGTGCAGCT
TGTCCTGGCGCCCCACAGGGAGGGTCCGTGCCCTCGGGCATCGGGAGAGGGGCCGTGCCCAGCCAGCACCTCCGGGCTTCTGCAGCCTCT
GTGTGTGGACACTGGGGCATCCTCCTACTGCCTGCAGCCCCCAGCTGGCTCTGTCTTGAGTGGGACTTGGCCCCACCCTCGTCCGGGGCC
TCCTCCCCTCATGGCACCCTGGCCCTGGGGTCCCCCAGCGTCTCAGAGCTCCCCCTGGCCTCGAGCCACAGCTTTCTGGACCTCCACCTC
AGACTCAGAGCCCCCTGCCTCAGGAGACCTCTGCTCTGAGCCCAGCACCCCTGCCTCCCCTCCTCCTTCTGAGGAAGGGGCTAGGACTGG
GCCCGCAGAGCCTGTGAGCCAGGCTGAGGCTACCAGCACTGGAGAGCCCCCACCAGGGTCAGGGGGCCTGGCCTTGCCCTGGGACCCCCA
CAGCCTGGAGATGGTGCTTATTGGCTGCCATGGCTCTGGCACAGTCCAGTGGACCCAGGAAGAAGGCACAGGGGTCTGAGTACCAGCCCT
AGAACTCAGCGTTGCCAGGTGTGCTGCCATCTGCTGTTCGGCCCAACCTCAGAGTGAAGGCAGGGTGGCAGCCTCCCCACGGACTCCATG
CGGCCCGCTGGCTCAGGGCAGGGAGCCTGGAAGCAAAGGAGGACCTGGCTCCTGACTCTCAGAGAGGATAGGCTGGATCCCTGGGGCAGG
CCTCTCCTCGGCCTGCTCCTCTGACCTCCCGGTCTCCCTCTGCAGGCTGGGGGCAGAGGCCTGAGGACAAGGAAGAGCTTTGCCATCCCC

>78506_78506_2_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000360203_KCNH3_chr12_49934682_ENST00000257981_length(amino acids)=1237AA_BP=179
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISARKIAERAQGELFPDRALSSWG
NAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVED
SNFVLGNAQVAGLFPVVYCSDGFCDLTGFSRAEVMQRGCACSFLYGPDTSELVRQQIRKALDEHKEFKAELILYRKSGLPFWCLLDVIPI
KNEKGEVALFLVSHKDISETKNRGGPDRWKETGGGRRRYGRARSKGFNANRRRSRAVLYHLSGHLQKQPKGKHKLNKGVFGEKPNLPEYK
VAAIRKSPFILLHCGALRATWDGFILLATLYVAVTVPYSVCVSTAREPSAARGPPSVCDLAVEVLFILDIVLNFRTTFVSKSGQVVFAPK
SICLHYVTTWFLLDVIAALPFDLLHAFKVNVYFGAHLLKTVRLLRLLRLLPRLDRYSQYSAVVLTLLMAVFALLAHWVACVWFYIGQREI
ESSESELPEIGWLQELARRLETPYYLVGRRPAGGNSSGQSDNCSSSSEANGTGLELLGGPSLRSAYITSLYFALSSLTSVGFGNVSANTD
TEKIFSICTMLIGALMHAVVFGNVTAIIQRMYARRFLYHSRTRDLRDYIRIHRIPKPLKQRMLEYFQATWAVNNGIDTTELLQSLPDELR
ADIAMHLHKEVLQLPLFEAASRGCLRALSLALRPAFCTPGEYLIHQGDALQALYFVCSGSMEVLKGGTVLAILGKGDLIGCELPRREQVV
KANADVKGLTYCVLQCLQLAGLHDSLALYPEFAPRFSRGLRGELSYNLGAGGGSAEVDTSSLSGDNTLMSTLEEKETDGEQGPTVSPAPA
DEPSSPLLSPGCTSSSSAAKLLSPRRTAPRPRLGGRGRPGRAGALKAEAGPSAPPRALEGLRLPPMPWNVPPDLSPRVVDGIEDGCGSDQ
PKFSFRVGQSGPECSSSPSPGPESGLLTVPHGPSEARNTDTLDKLRQAVTELSEQVLQMREGLQSLRQAVQLVLAPHREGPCPRASGEGP
CPASTSGLLQPLCVDTGASSYCLQPPAGSVLSGTWPHPRPGPPPLMAPWPWGPPASQSSPWPRATAFWTSTSDSEPPASGDLCSEPSTPA

--------------------------------------------------------------
>78506_78506_3_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000370018_KCNH3_chr12_49934682_ENST00000257981_length(transcript)=4896nt_BP=1365nt
AGTCAGCCCTGCTGCCAGCCAGTGCCGGGTGCTGGGGACTCAGGGAGGCCCGCCGGGACCACTGCGGGACAGTGAGCCGAGCAGAAGCTG
GAACGCAGGAGAGGAAGGAGAGGGGGCGGTCAGGGCTCTCAGGAGCCGGGTCCTGGGCAAGGCGCAGCCGTTTTCAAATTTTCAGGAAAG
CGGTCGGCTCACACTCGAGCAGTAAAAAGATGCCTCTGGGGAGGAGGCCCGTGCAGCTCTCCGGGCAATGGTGGTGGCTCGGCCTAGAGA
GGCGGTAGTGGAACGCAGACCCTGGTGGGGGAATGACATCAAGGGAGGAGACGGGCGGGACCCCAGATTTCTGCCTGTGGGCGATGGAAG
TGAGGTTCACTGGCCAGCGGAGCCGGACACAGAACGCGCAAAACGCCGTGTAGGCCTGGAGGAGCCGAAGAGCAGGCGGACCCCCTCCGC
GGGGGAACAGTTTCCGCCGGGAGCACAAAGCAACGGACCGGAAGTGGGGGGCGGAAGTGCAGTGGGCTCAGCGCCGACTGCGCGCCTCTG
CCCGCGAAAACTCTGAGCTGGCTGACAGCTGGGGACGGGTGGCGGCCCTCGACTGGAGTCGGTTGAGTTCCTGAGGGACCCCGGTTCTGG
AAGGTTCGCCGCGGAGACAAGTGAGCAGTCTGTGCCATAGGGATTCTCGAAGAGAACAGCGTTGTGTCCCAGTGCACATGCTCGCATCGC
TTACCAGGAGTGCCCGAGACCCTAAGATGTTCGGAGTGGTTTTTTCGCACAGACCCGAATAGCCTGCCCCTCAGCCACGCTCTGTGCCCT
TCTGAGAACAGGCTGATATGCCCAAGATAGTCCTGAATGGTGTGACCGTAGACTTCCCTTTCCAGCCCTACAAATGCCAACAGGAGTACA
TGACCAAGGTCCTGGAATGTCTGCAGCAGAAGGTGAATGGCATCCTGGAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCA
CCACGCTGGCCTGGCGAGAACACCTCCGAGACGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTTTTCCCGGATCGGG
CCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATAGCTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGA
CCCACTCGCAACTCACACAGGTCATCAACGAGCTTCGGAACACCTCCTACCGGCCTAAGGTGTGTGTGCTGGGCTCCCGGGAGCAGCTGT
GCATCCATCCTGAGGTGAAGAAACAAGAGAGTAACCATCTACAGATCCACTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCT
ACAACAACGTAGAAGACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTG
ACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCC
AACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGATCCTGTACCGGAAGAGCGGGCTCCCGTTCTGGTGTCTCC
TGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGG
GCCCCGACAGATGGAAGGAGACAGGTGGTGGCCGGCGCCGATATGGCCGGGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCC
GGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAAGCACAAGCTCAATAAGGGGGTGTTTGGGGAGAAACCAA
ACTTGCCTGAGTACAAAGTAGCCGCCATCCGGAAGTCGCCCTTCATCCTGTTGCACTGTGGGGCACTGAGAGCCACCTGGGATGGCTTCA
TCCTGCTCGCCACACTCTATGTGGCTGTCACTGTGCCCTACAGCGTGTGTGTGAGCACAGCACGGGAGCCCAGTGCCGCCCGCGGCCCGC
CCAGCGTCTGTGACCTGGCCGTGGAGGTCCTCTTCATCCTTGACATTGTGCTGAATTTCCGTACCACATTCGTGTCCAAGTCGGGCCAGG
TGGTGTTTGCCCCAAAGTCCATTTGCCTCCACTACGTCACCACCTGGTTCCTGCTGGATGTCATCGCAGCGCTGCCCTTTGACCTGCTAC
ATGCCTTCAAGGTCAACGTGTACTTCGGGGCCCATCTGCTGAAGACGGTGCGCCTGCTGCGCCTGCTGCGCCTGCTTCCGCGGCTGGACC
GGTACTCGCAGTACAGCGCCGTGGTGCTGACACTGCTCATGGCCGTGTTCGCCCTGCTCGCGCACTGGGTCGCCTGCGTCTGGTTTTACA
TTGGCCAGCGGGAGATCGAGAGCAGCGAATCCGAGCTGCCTGAGATTGGCTGGCTGCAGGAGCTGGCCCGCCGACTGGAGACTCCCTACT
ACCTGGTGGGCCGGAGGCCAGCTGGAGGGAACAGCTCCGGCCAGAGTGACAACTGCAGCAGCAGCAGCGAGGCCAACGGGACGGGGCTGG
AGCTGCTGGGCGGCCCGTCGCTGCGCAGCGCCTACATCACCTCCCTCTACTTCGCACTCAGCAGCCTCACCAGCGTGGGCTTCGGCAACG
TGTCCGCCAACACGGACACCGAGAAGATCTTCTCCATCTGCACCATGCTCATCGGCGCCCTGATGCACGCGGTGGTGTTTGGGAACGTGA
CGGCCATCATCCAGCGCATGTACGCCCGCCGCTTTCTGTACCACAGCCGCACGCGCGACCTGCGCGACTACATCCGCATCCACCGTATCC
CCAAGCCCCTCAAGCAGCGCATGCTGGAGTACTTCCAGGCCACCTGGGCGGTGAACAATGGCATCGACACCACCGAGCTGCTGCAGAGCC
TCCCTGACGAGCTGCGCGCAGACATCGCCATGCACCTGCACAAGGAGGTCCTGCAGCTGCCACTGTTTGAGGCGGCCAGCCGCGGCTGCC
TGCGGGCACTGTCTCTGGCCCTGCGGCCCGCCTTCTGCACGCCGGGCGAGTACCTCATCCACCAAGGCGATGCCCTGCAGGCCCTCTACT
TTGTCTGCTCTGGCTCCATGGAGGTGCTCAAGGGTGGCACCGTGCTCGCCATCCTAGGGAAGGGCGACCTGATCGGCTGTGAGCTGCCCC
GGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTACTGCGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACA
GCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCGAGGGGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTG
CAGAGGTGGACACCAGCTCCCTGAGCGGCGACAATACCCTTATGTCCACGCTGGAGGAGAAGGAGACAGATGGGGAGCAGGGCCCCACGG
TCTCCCCAGCCCCAGCTGATGAGCCCTCCAGCCCCCTGCTGTCCCCTGGCTGCACCTCCTCATCCTCAGCTGCCAAGCTGCTATCCCCAC
GTCGAACAGCACCCCGGCCTCGTCTAGGTGGCAGAGGGAGGCCAGGCAGGGCAGGGGCTTTGAAGGCTGAGGCTGGCCCCTCTGCTCCCC
CACGGGCCCTAGAGGGGCTACGGCTGCCCCCCATGCCATGGAATGTGCCCCCAGATCTGAGCCCCAGGGTAGTAGATGGCATTGAAGACG
GCTGTGGCTCGGACCAGCCCAAGTTCTCTTTCCGCGTGGGCCAGTCTGGCCCGGAATGTAGCAGCAGCCCCTCCCCTGGACCAGAGAGCG
GCCTGCTCACTGTTCCCCATGGGCCCAGCGAGGCAAGGAACACAGACACACTGGACAAGCTTCGGCAGGCGGTGACAGAGCTGTCAGAGC
AGGTGCTGCAGATGCGGGAAGGACTGCAGTCACTTCGCCAGGCTGTGCAGCTTGTCCTGGCGCCCCACAGGGAGGGTCCGTGCCCTCGGG
CATCGGGAGAGGGGCCGTGCCCAGCCAGCACCTCCGGGCTTCTGCAGCCTCTGTGTGTGGACACTGGGGCATCCTCCTACTGCCTGCAGC
CCCCAGCTGGCTCTGTCTTGAGTGGGACTTGGCCCCACCCTCGTCCGGGGCCTCCTCCCCTCATGGCACCCTGGCCCTGGGGTCCCCCAG
CGTCTCAGAGCTCCCCCTGGCCTCGAGCCACAGCTTTCTGGACCTCCACCTCAGACTCAGAGCCCCCTGCCTCAGGAGACCTCTGCTCTG
AGCCCAGCACCCCTGCCTCCCCTCCTCCTTCTGAGGAAGGGGCTAGGACTGGGCCCGCAGAGCCTGTGAGCCAGGCTGAGGCTACCAGCA
CTGGAGAGCCCCCACCAGGGTCAGGGGGCCTGGCCTTGCCCTGGGACCCCCACAGCCTGGAGATGGTGCTTATTGGCTGCCATGGCTCTG
GCACAGTCCAGTGGACCCAGGAAGAAGGCACAGGGGTCTGAGTACCAGCCCTAGAACTCAGCGTTGCCAGGTGTGCTGCCATCTGCTGTT
CGGCCCAACCTCAGAGTGAAGGCAGGGTGGCAGCCTCCCCACGGACTCCATGCGGCCCGCTGGCTCAGGGCAGGGAGCCTGGAAGCAAAG
GAGGACCTGGCTCCTGACTCTCAGAGAGGATAGGCTGGATCCCTGGGGCAGGCCTCTCCTCGGCCTGCTCCTCTGACCTCCCGGTCTCCC
TCTGCAGGCTGGGGGCAGAGGCCTGAGGACAAGGAAGAGCTTTGCCATCCCCTGCATGTGCCCCTGCCTCTACCTGTCCCCAAATTTTTA

>78506_78506_3_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000370018_KCNH3_chr12_49934682_ENST00000257981_length(amino acids)=1237AA_BP=179
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISARKIAERAQGELFPDRALSSWG
NAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVED
SNFVLGNAQVAGLFPVVYCSDGFCDLTGFSRAEVMQRGCACSFLYGPDTSELVRQQIRKALDEHKEFKAELILYRKSGLPFWCLLDVIPI
KNEKGEVALFLVSHKDISETKNRGGPDRWKETGGGRRRYGRARSKGFNANRRRSRAVLYHLSGHLQKQPKGKHKLNKGVFGEKPNLPEYK
VAAIRKSPFILLHCGALRATWDGFILLATLYVAVTVPYSVCVSTAREPSAARGPPSVCDLAVEVLFILDIVLNFRTTFVSKSGQVVFAPK
SICLHYVTTWFLLDVIAALPFDLLHAFKVNVYFGAHLLKTVRLLRLLRLLPRLDRYSQYSAVVLTLLMAVFALLAHWVACVWFYIGQREI
ESSESELPEIGWLQELARRLETPYYLVGRRPAGGNSSGQSDNCSSSSEANGTGLELLGGPSLRSAYITSLYFALSSLTSVGFGNVSANTD
TEKIFSICTMLIGALMHAVVFGNVTAIIQRMYARRFLYHSRTRDLRDYIRIHRIPKPLKQRMLEYFQATWAVNNGIDTTELLQSLPDELR
ADIAMHLHKEVLQLPLFEAASRGCLRALSLALRPAFCTPGEYLIHQGDALQALYFVCSGSMEVLKGGTVLAILGKGDLIGCELPRREQVV
KANADVKGLTYCVLQCLQLAGLHDSLALYPEFAPRFSRGLRGELSYNLGAGGGSAEVDTSSLSGDNTLMSTLEEKETDGEQGPTVSPAPA
DEPSSPLLSPGCTSSSSAAKLLSPRRTAPRPRLGGRGRPGRAGALKAEAGPSAPPRALEGLRLPPMPWNVPPDLSPRVVDGIEDGCGSDQ
PKFSFRVGQSGPECSSSPSPGPESGLLTVPHGPSEARNTDTLDKLRQAVTELSEQVLQMREGLQSLRQAVQLVLAPHREGPCPRASGEGP
CPASTSGLLQPLCVDTGASSYCLQPPAGSVLSGTWPHPRPGPPPLMAPWPWGPPASQSSPWPRATAFWTSTSDSEPPASGDLCSEPSTPA

--------------------------------------------------------------
>78506_78506_4_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000508582_KCNH3_chr12_49934682_ENST00000257981_length(transcript)=4487nt_BP=956nt
AACGGACCGGAAGTGGGGGGCGGAAGTGCAGTGGGCTCAGCGCCGACTGCGCGCCTCTGCCCGCGAAAACTCTGAGCTGGCTGACAGCTG
GGGACGGGTGGCGGCCCTCGACTGGAGTCGGTTGAGTTCCTGAGGGACCCCGGTTCTGGAAGGTTCGCCGCGGAGACAAGTGAGCAGTCT
GTGCCATAGGGATTCTCGAAGAGAACAGCGTTGTGTCCCAGTGCACATGCTCGCATCGCTTACCAGGAGTGCCCGAGACCCTAAGATGTT
CGGAGTGGTTTTTTCGCACAGACCCGAATAGCCTGCCCCTCAGCCACGCTCTGTGCCCTTCTGAGAACAGGCTGATATGCCCAAGATAGT
CCTGAATGGTGTGACCGTAGACTTCCCTTTCCAGCCCTACAAATGCCAACAGGAGTACATGACCAAGGTCCTGGAATGTCTGCAGCAGAA
GGTGAATGGCATCCTGGAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCACCACGCTGGCCTGGCGAGAACACCTCCGAGA
CGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTTTTCCCGGATCGGGCCTTGTCATCCTGGGGCAACGCTGCTGCTGC
TGCTGGAGACCCCATAGCTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGACCCACTCGCAACTCACACAGGTCATCAACGA
GCTTCGGAACACCTCCTACCGCTCACGCTGCAGGGCCACGCTGTGGGTGTTGGAGACAGCTCCTCCTCGACCCACGGTGCTCTCTCCCAC
CAGGCCTAAGGTGTGTGTGCTGGGCTCCCGGGAGCAGCTGTGCATCCATCCTGAGGTGAAGAAACAAGAGAGTAACCATCTACAGATCCA
CTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCTACAACAACGTAGAAGACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGC
GGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTGACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTG
CTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCCAACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCT
GATCCTGTACCGGAAGAGCGGGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCT
AGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAGGTGGTGGCCGGCGCCGATATGGCCG
GGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCCGGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGG
CAAGCACAAGCTCAATAAGGGGGTGTTTGGGGAGAAACCAAACTTGCCTGAGTACAAAGTAGCCGCCATCCGGAAGTCGCCCTTCATCCT
GTTGCACTGTGGGGCACTGAGAGCCACCTGGGATGGCTTCATCCTGCTCGCCACACTCTATGTGGCTGTCACTGTGCCCTACAGCGTGTG
TGTGAGCACAGCACGGGAGCCCAGTGCCGCCCGCGGCCCGCCCAGCGTCTGTGACCTGGCCGTGGAGGTCCTCTTCATCCTTGACATTGT
GCTGAATTTCCGTACCACATTCGTGTCCAAGTCGGGCCAGGTGGTGTTTGCCCCAAAGTCCATTTGCCTCCACTACGTCACCACCTGGTT
CCTGCTGGATGTCATCGCAGCGCTGCCCTTTGACCTGCTACATGCCTTCAAGGTCAACGTGTACTTCGGGGCCCATCTGCTGAAGACGGT
GCGCCTGCTGCGCCTGCTGCGCCTGCTTCCGCGGCTGGACCGGTACTCGCAGTACAGCGCCGTGGTGCTGACACTGCTCATGGCCGTGTT
CGCCCTGCTCGCGCACTGGGTCGCCTGCGTCTGGTTTTACATTGGCCAGCGGGAGATCGAGAGCAGCGAATCCGAGCTGCCTGAGATTGG
CTGGCTGCAGGAGCTGGCCCGCCGACTGGAGACTCCCTACTACCTGGTGGGCCGGAGGCCAGCTGGAGGGAACAGCTCCGGCCAGAGTGA
CAACTGCAGCAGCAGCAGCGAGGCCAACGGGACGGGGCTGGAGCTGCTGGGCGGCCCGTCGCTGCGCAGCGCCTACATCACCTCCCTCTA
CTTCGCACTCAGCAGCCTCACCAGCGTGGGCTTCGGCAACGTGTCCGCCAACACGGACACCGAGAAGATCTTCTCCATCTGCACCATGCT
CATCGGCGCCCTGATGCACGCGGTGGTGTTTGGGAACGTGACGGCCATCATCCAGCGCATGTACGCCCGCCGCTTTCTGTACCACAGCCG
CACGCGCGACCTGCGCGACTACATCCGCATCCACCGTATCCCCAAGCCCCTCAAGCAGCGCATGCTGGAGTACTTCCAGGCCACCTGGGC
GGTGAACAATGGCATCGACACCACCGAGCTGCTGCAGAGCCTCCCTGACGAGCTGCGCGCAGACATCGCCATGCACCTGCACAAGGAGGT
CCTGCAGCTGCCACTGTTTGAGGCGGCCAGCCGCGGCTGCCTGCGGGCACTGTCTCTGGCCCTGCGGCCCGCCTTCTGCACGCCGGGCGA
GTACCTCATCCACCAAGGCGATGCCCTGCAGGCCCTCTACTTTGTCTGCTCTGGCTCCATGGAGGTGCTCAAGGGTGGCACCGTGCTCGC
CATCCTAGGGAAGGGCGACCTGATCGGCTGTGAGCTGCCCCGGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTA
CTGCGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACAGCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCG
AGGGGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTGCAGAGGTGGACACCAGCTCCCTGAGCGGCGACAATACCCTTATGTCCAC
GCTGGAGGAGAAGGAGACAGATGGGGAGCAGGGCCCCACGGTCTCCCCAGCCCCAGCTGATGAGCCCTCCAGCCCCCTGCTGTCCCCTGG
CTGCACCTCCTCATCCTCAGCTGCCAAGCTGCTATCCCCACGTCGAACAGCACCCCGGCCTCGTCTAGGTGGCAGAGGGAGGCCAGGCAG
GGCAGGGGCTTTGAAGGCTGAGGCTGGCCCCTCTGCTCCCCCACGGGCCCTAGAGGGGCTACGGCTGCCCCCCATGCCATGGAATGTGCC
CCCAGATCTGAGCCCCAGGGTAGTAGATGGCATTGAAGACGGCTGTGGCTCGGACCAGCCCAAGTTCTCTTTCCGCGTGGGCCAGTCTGG
CCCGGAATGTAGCAGCAGCCCCTCCCCTGGACCAGAGAGCGGCCTGCTCACTGTTCCCCATGGGCCCAGCGAGGCAAGGAACACAGACAC
ACTGGACAAGCTTCGGCAGGCGGTGACAGAGCTGTCAGAGCAGGTGCTGCAGATGCGGGAAGGACTGCAGTCACTTCGCCAGGCTGTGCA
GCTTGTCCTGGCGCCCCACAGGGAGGGTCCGTGCCCTCGGGCATCGGGAGAGGGGCCGTGCCCAGCCAGCACCTCCGGGCTTCTGCAGCC
TCTGTGTGTGGACACTGGGGCATCCTCCTACTGCCTGCAGCCCCCAGCTGGCTCTGTCTTGAGTGGGACTTGGCCCCACCCTCGTCCGGG
GCCTCCTCCCCTCATGGCACCCTGGCCCTGGGGTCCCCCAGCGTCTCAGAGCTCCCCCTGGCCTCGAGCCACAGCTTTCTGGACCTCCAC
CTCAGACTCAGAGCCCCCTGCCTCAGGAGACCTCTGCTCTGAGCCCAGCACCCCTGCCTCCCCTCCTCCTTCTGAGGAAGGGGCTAGGAC
TGGGCCCGCAGAGCCTGTGAGCCAGGCTGAGGCTACCAGCACTGGAGAGCCCCCACCAGGGTCAGGGGGCCTGGCCTTGCCCTGGGACCC
CCACAGCCTGGAGATGGTGCTTATTGGCTGCCATGGCTCTGGCACAGTCCAGTGGACCCAGGAAGAAGGCACAGGGGTCTGAGTACCAGC
CCTAGAACTCAGCGTTGCCAGGTGTGCTGCCATCTGCTGTTCGGCCCAACCTCAGAGTGAAGGCAGGGTGGCAGCCTCCCCACGGACTCC
ATGCGGCCCGCTGGCTCAGGGCAGGGAGCCTGGAAGCAAAGGAGGACCTGGCTCCTGACTCTCAGAGAGGATAGGCTGGATCCCTGGGGC
AGGCCTCTCCTCGGCCTGCTCCTCTGACCTCCCGGTCTCCCTCTGCAGGCTGGGGGCAGAGGCCTGAGGACAAGGAAGAGCTTTGCCATC

>78506_78506_4_RTEL1-KCNH3_RTEL1_chr20_62294242_ENST00000508582_KCNH3_chr12_49934682_ENST00000257981_length(amino acids)=1261AA_BP=203
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISARKIAERAQGELFPDRALSSWG
NAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRSRCRATLWVLETAPPRPTVLSPTRPKVCVLGSREQLCIHPEVKKQESN
HLQIHLCRKKVASRSCHFYNNVEDSNFVLGNAQVAGLFPVVYCSDGFCDLTGFSRAEVMQRGCACSFLYGPDTSELVRQQIRKALDEHKE
FKAELILYRKSGLPFWCLLDVIPIKNEKGEVALFLVSHKDISETKNRGGPDRWKETGGGRRRYGRARSKGFNANRRRSRAVLYHLSGHLQ
KQPKGKHKLNKGVFGEKPNLPEYKVAAIRKSPFILLHCGALRATWDGFILLATLYVAVTVPYSVCVSTAREPSAARGPPSVCDLAVEVLF
ILDIVLNFRTTFVSKSGQVVFAPKSICLHYVTTWFLLDVIAALPFDLLHAFKVNVYFGAHLLKTVRLLRLLRLLPRLDRYSQYSAVVLTL
LMAVFALLAHWVACVWFYIGQREIESSESELPEIGWLQELARRLETPYYLVGRRPAGGNSSGQSDNCSSSSEANGTGLELLGGPSLRSAY
ITSLYFALSSLTSVGFGNVSANTDTEKIFSICTMLIGALMHAVVFGNVTAIIQRMYARRFLYHSRTRDLRDYIRIHRIPKPLKQRMLEYF
QATWAVNNGIDTTELLQSLPDELRADIAMHLHKEVLQLPLFEAASRGCLRALSLALRPAFCTPGEYLIHQGDALQALYFVCSGSMEVLKG
GTVLAILGKGDLIGCELPRREQVVKANADVKGLTYCVLQCLQLAGLHDSLALYPEFAPRFSRGLRGELSYNLGAGGGSAEVDTSSLSGDN
TLMSTLEEKETDGEQGPTVSPAPADEPSSPLLSPGCTSSSSAAKLLSPRRTAPRPRLGGRGRPGRAGALKAEAGPSAPPRALEGLRLPPM
PWNVPPDLSPRVVDGIEDGCGSDQPKFSFRVGQSGPECSSSPSPGPESGLLTVPHGPSEARNTDTLDKLRQAVTELSEQVLQMREGLQSL
RQAVQLVLAPHREGPCPRASGEGPCPASTSGLLQPLCVDTGASSYCLQPPAGSVLSGTWPHPRPGPPPLMAPWPWGPPASQSSPWPRATA
FWTSTSDSEPPASGDLCSEPSTPASPPPSEEGARTGPAEPVSQAEATSTGEPPPGSGGLALPWDPHSLEMVLIGCHGSGTVQWTQEEGTG

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Fusion Gene PPI Analysis for RTEL1-KCNH3


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 RTEL1-KCNH3


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 RTEL1-KCNH3


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