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in Kim Lab

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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:C2orf69-POT1 (FusionGDB2 ID:HG205327TG25913)

Fusion Gene Summary for C2orf69-POT1

check button Fusion gene summary
Fusion gene informationFusion gene name: C2orf69-POT1
Fusion gene ID: hg205327tg25913
HgeneTgene
Gene symbol

C2orf69

POT1

Gene ID

205327

25913

Gene namechromosome 2 open reading frame 69protection of telomeres 1
Synonyms-CMM10|GLM9|HPOT1
Cytomap('C2orf69')('POT1')

2q33.1

7q31.33

Type of geneprotein-codingprotein-coding
DescriptionUPF0565 protein C2orf69protection of telomeres protein 1POT1-like telomere end-binding proteinprotection of telomeres 1 homolog
Modification date2020031320200313
UniProtAcc

Q8N8R5

.
Ensembl transtripts involved in fusion geneENST00000491721, ENST00000319974, 
Fusion gene scores* DoF score5 X 3 X 2=305 X 5 X 4=100
# samples 55
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C2orf69 [Title/Abstract] AND POT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC2orf69(200776494)-POT1(124499166), # samples:1
Anticipated loss of major functional domain due to fusion event.C2orf69-POT1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C2orf69-POT1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C2orf69-POT1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
C2orf69-POT1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePOT1

GO:0007004

telomere maintenance via telomerase

12768206

TgenePOT1

GO:0032202

telomere assembly

16043710

TgenePOT1

GO:0032212

positive regulation of telomere maintenance via telomerase

17237768

TgenePOT1

GO:0032508

DNA duplex unwinding

16030011

TgenePOT1

GO:0051096

positive regulation of helicase activity

16030011

TgenePOT1

GO:0051973

positive regulation of telomerase activity

16043710|17237768

TgenePOT1

GO:0051974

negative regulation of telomerase activity

15632080

TgenePOT1

GO:0060383

positive regulation of DNA strand elongation

16043710

TgenePOT1

GO:1905774

regulation of DNA helicase activity

19734539

TgenePOT1

GO:1905776

positive regulation of DNA helicase activity

19734539

TgenePOT1

GO:2001032

regulation of double-strand break repair via nonhomologous end joining

29227966


check buttonFusion gene breakpoints across C2orf69 (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 POT1 (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
* 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
ChimerDB4STADTCGA-BR-A4PD-01AC2orf69chr2

200776494

+POT1chr7

124499166

-


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Fusion Gene ORF analysis for C2orf69-POT1

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
3UTR-3CDSENST00000491721ENST00000357628C2orf69chr2

200776494

+POT1chr7

124499166

-
3UTR-3CDSENST00000491721ENST00000393329C2orf69chr2

200776494

+POT1chr7

124499166

-
3UTR-intronENST00000491721ENST00000461288C2orf69chr2

200776494

+POT1chr7

124499166

-
5CDS-intronENST00000319974ENST00000461288C2orf69chr2

200776494

+POT1chr7

124499166

-
In-frameENST00000319974ENST00000357628C2orf69chr2

200776494

+POT1chr7

124499166

-
In-frameENST00000319974ENST00000393329C2orf69chr2

200776494

+POT1chr7

124499166

-

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)
ENST00000319974C2orf69chr2200776494+ENST00000357628POT1chr7124499166-3451516391874611
ENST00000319974C2orf69chr2200776494+ENST00000393329POT1chr7124499166-3450516391874611

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
ENST00000319974ENST00000357628C2orf69chr2200776494+POT1chr7124499166-0.000445610.99955434
ENST00000319974ENST00000393329C2orf69chr2200776494+POT1chr7124499166-0.0004444030.9995555

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Fusion Genomic Features for C2orf69-POT1


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

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Fusion Protein Features for C2orf69-POT1


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/chr2:200776494/chr7:124499166)
- 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
C2orf69

Q8N8R5

.
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
TgenePOT1chr2:200776494chr7:124499166ENST00000357628719270_273182635.0RegionNote=DNA binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePOT1chr2:200776494chr7:124499166ENST0000035762871933_48182635.0RegionNote=DNA binding


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Fusion Gene Sequence for C2orf69-POT1


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.
>11662_11662_1_C2orf69-POT1_C2orf69_chr2_200776494_ENST00000319974_POT1_chr7_124499166_ENST00000357628_length(transcript)=3451nt_BP=516nt
CTTCCTTTCCTTACGCACGCTGCGCGCGGACGTCGGCCTCTGACGTCGTCGCCTCAGCGCCGGCTCCCGGCCGGGCCGCGGCCGCCGACC
GTTGAGCCGCCGGCTGAGCCGCCTGCTGAAGTCCCTCCCTCAGGAACCCCTCCGCCACCCTCCACCTCCGAACCGCTCTCGCGGCGGCGA
CCCATGTGGGGGTTCAGGCTCCTGCGGTCGCCGCCGTTGCTGCTCCTGCTGCCGCAGCTCGGAATCGGAAACGCCTCGTCCTGCTCTCAG
GCCAGAACCATGAACCCGGGCGGCAGCGGCGGCGCGCGATGCTCCCTCTCGGCCGAGGTGCGCCGCCGTCAGTGCCTGCAGCTTTCCACC
GTGCCTGGAGCCGATCCGCAGCGCAGCAACGAATTGCTCCTGTTGGCGGCGGCCGGGGAGGGACTGGAGCGGCAGGACCTCCCCGGGGAC
CCAGCGAAGGAGGAGCCGCAGCCGCCGCCCCAGCATCACGTCCTCTATTTCCCTGGGGATGTGCAGGTATGGGATGGCACCAGGACACCA
TTTCCATCTTGGAGAGTCTTAATACAAGACCTTGTTCTTGAAGGTGATTTAAGTCACATCCATCGGCTACAAAATCTGACAATAGACATT
TTAGTCTACGATAACCATGTTCATGTGGCAAGATCTCTGAAGGTTGGAAGCTTTCTTAGAATCTATAGCCTTCATACCAAACTTCAATCA
ATGAATTCAGAGAATCAGACAATGTTAAGTTTAGAGTTTCATCTTCATGGAGGTACCAGTTACGGTCGGGGAATCAGGGTCTTGCCAGAA
AGTAACTCTGATGTGGATCAACTGAAAAAGGATTTAGAATCTGCAAATTTGACAGCCAATCAGCATTCAGATGTTATCTGTCAATCAGAA
CCTGACGACAGCTTTCCAAGCTCTGGATCAGTATCATTATACGAGGTAGAAAGATGTCAACAGCTATCTGCTACAATACTTACAGATCAT
CAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAG
CCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCTGCAAGAAGTTCCACATGAGGGCGATTTGGATATAATT
TTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAA
GGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAGGAGGTACACTC
AGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCA
CCATTTCTTATACAAGGAACAATACATCACTATGGATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGAT
AAAACATCGTGGATTCCTTCTTCTGTGGCAGAAGCACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGAT
GGAACAGGAGTACTAGAAGCCTATCTCATGGATTCTGACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAG
AAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTGATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATAC
AATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATT
TAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGC
ATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCT
TTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAA
TGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGT
TTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTT
TTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACC
TGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCC
AAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGA
GCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAG
CACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACA
CAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAA
GCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATA
GTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGT
ACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATT
TTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGAT
GTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGT
TCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTT

>11662_11662_1_C2orf69-POT1_C2orf69_chr2_200776494_ENST00000319974_POT1_chr7_124499166_ENST00000357628_length(amino acids)=611AA_BP=158
MTSSPQRRLPAGPRPPTVEPPAEPPAEVPPSGTPPPPSTSEPLSRRRPMWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGAR
CSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQVWDGTRTPFPSWRVLIQDLVL
EGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLE
SANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCP
KCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSV
IPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSD

--------------------------------------------------------------
>11662_11662_2_C2orf69-POT1_C2orf69_chr2_200776494_ENST00000319974_POT1_chr7_124499166_ENST00000393329_length(transcript)=3450nt_BP=516nt
CTTCCTTTCCTTACGCACGCTGCGCGCGGACGTCGGCCTCTGACGTCGTCGCCTCAGCGCCGGCTCCCGGCCGGGCCGCGGCCGCCGACC
GTTGAGCCGCCGGCTGAGCCGCCTGCTGAAGTCCCTCCCTCAGGAACCCCTCCGCCACCCTCCACCTCCGAACCGCTCTCGCGGCGGCGA
CCCATGTGGGGGTTCAGGCTCCTGCGGTCGCCGCCGTTGCTGCTCCTGCTGCCGCAGCTCGGAATCGGAAACGCCTCGTCCTGCTCTCAG
GCCAGAACCATGAACCCGGGCGGCAGCGGCGGCGCGCGATGCTCCCTCTCGGCCGAGGTGCGCCGCCGTCAGTGCCTGCAGCTTTCCACC
GTGCCTGGAGCCGATCCGCAGCGCAGCAACGAATTGCTCCTGTTGGCGGCGGCCGGGGAGGGACTGGAGCGGCAGGACCTCCCCGGGGAC
CCAGCGAAGGAGGAGCCGCAGCCGCCGCCCCAGCATCACGTCCTCTATTTCCCTGGGGATGTGCAGGTATGGGATGGCACCAGGACACCA
TTTCCATCTTGGAGAGTCTTAATACAAGACCTTGTTCTTGAAGGTGATTTAAGTCACATCCATCGGCTACAAAATCTGACAATAGACATT
TTAGTCTACGATAACCATGTTCATGTGGCAAGATCTCTGAAGGTTGGAAGCTTTCTTAGAATCTATAGCCTTCATACCAAACTTCAATCA
ATGAATTCAGAGAATCAGACAATGTTAAGTTTAGAGTTTCATCTTCATGGAGGTACCAGTTACGGTCGGGGAATCAGGGTCTTGCCAGAA
AGTAACTCTGATGTGGATCAACTGAAAAAGGATTTAGAATCTGCAAATTTGACAGCCAATCAGCATTCAGATGTTATCTGTCAATCAGAA
CCTGACGACAGCTTTCCAAGCTCTGGATCAGTATCATTATACGAGGTAGAAAGATGTCAACAGCTATCTGCTACAATACTTACAGATCAT
CAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAG
CCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCTGCAAGAAGTTCCACATGAGGGCGATTTGGATATAATT
TTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAA
GGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAGGAGGTACACTC
AGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCA
CCATTTCTTATACAAGGAACAATACATCACTATGGATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGAT
AAAACATCGTGGATTCCTTCTTCTGTGGCAGAAGCACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGAT
GGAACAGGAGTACTAGAAGCCTATCTCATGGATTCTGACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAG
AAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTGATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATAC
AATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATT
TAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGC
ATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCT
TTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAA
TGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGT
TTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTT
TTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACC
TGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCC
AAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGA
GCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAG
CACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACA
CAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAA
GCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATA
GTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGT
ACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATT
TTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGAT
GTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGT
TCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTT

>11662_11662_2_C2orf69-POT1_C2orf69_chr2_200776494_ENST00000319974_POT1_chr7_124499166_ENST00000393329_length(amino acids)=611AA_BP=158
MTSSPQRRLPAGPRPPTVEPPAEPPAEVPPSGTPPPPSTSEPLSRRRPMWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGAR
CSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQVWDGTRTPFPSWRVLIQDLVL
EGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLE
SANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCP
KCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSV
IPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSD

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

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Fusion Gene PPI Analysis for C2orf69-POT1


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 C2orf69-POT1


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 C2orf69-POT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0023448Lymphoid leukemia2CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome2ORPHANET
TgeneC4014476MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 102CTD_human;UNIPROT
TgeneC0004403Autosome Abnormalities1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0008625Chromosome Aberrations1CTD_human
TgeneC0008626Congenital chromosomal disease1CTD_human
TgeneC0023434Chronic Lymphocytic Leukemia1CGI;ORPHANET
TgeneC0025202melanoma1CTD_human
TgeneC0028945oligodendroglioma1ORPHANET
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0334590Anaplastic Oligodendroglioma1ORPHANET
TgeneC0855095Small Lymphocytic Lymphoma1ORPHANET
TgeneC0969687Autosomal Chromosome Disorders1CTD_human
TgeneC1868683B-CELL MALIGNANCY, LOW-GRADE1ORPHANET
TgeneC4225278GLIOMA SUSCEPTIBILITY 91UNIPROT