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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 6405

FusionGeneSummary for CDC73_KCNT2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC73_KCNT2
Fusion gene ID: 6405
HgeneTgene
Gene symbol

CDC73

KCNT2

Gene ID

79577

343450

Gene namecell division cycle 73potassium sodium-activated channel subfamily T member 2
SynonymsC1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYXEIEE57|KCa4.2|SLICK|SLO2.1
Cytomap

1q31.2

1q31.3

Type of geneprotein-codingprotein-coding
DescriptionparafibrominPaf1/RNA polymerase II complex componentcell division cycle 73 Paf1/RNA polymerase II complex component-like proteincell division cycle 73, Paf1/RNA polymerase II complex component, homologcell division cycle protein 73 homologhyperparathpotassium channel subfamily T member 2potassium channel, subfamily T, member 2sequence like an intermediate conductance potassium channel subunitsodium and chloride-activated ATP-sensitive potassium channel Slo2.1sodium-and chloride-activated ATP-sens
Modification date2018052320180523
UniProtAcc

Q6P1J9

Q6UVM3

Ensembl transtripts involved in fusion geneENST00000367435, ENST00000477868, 
ENST00000367433, ENST00000498426, 
ENST00000367431, ENST00000609185, 
ENST00000451324, ENST00000294725, 
Fusion gene scores* DoF score5 X 4 X 5=1005 X 4 X 4=80
# samples 55
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC73 [Title/Abstract] AND KCNT2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneCDC73

GO:0008285

negative regulation of cell proliferation

16989776

HgeneCDC73

GO:0010390

histone monoubiquitination

16307923

HgeneCDC73

GO:0030177

positive regulation of Wnt signaling pathway

16630820

HgeneCDC73

GO:0032968

positive regulation of transcription elongation from RNA polymerase II promoter

20178742

HgeneCDC73

GO:0033523

histone H2B ubiquitination

16307923

HgeneCDC73

GO:0045638

negative regulation of myeloid cell differentiation

20541477

HgeneCDC73

GO:0045944

positive regulation of transcription by RNA polymerase II

20178742

HgeneCDC73

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

16989776


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-FS-A1ZU-06ACDC73chr1

193121574

+KCNT2chr1

196448368

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000367435ENST00000367433CDC73chr1

193121574

+KCNT2chr1

196448368

-
5CDS-intronENST00000367435ENST00000498426CDC73chr1

193121574

+KCNT2chr1

196448368

-
5CDS-intronENST00000367435ENST00000367431CDC73chr1

193121574

+KCNT2chr1

196448368

-
5CDS-intronENST00000367435ENST00000609185CDC73chr1

193121574

+KCNT2chr1

196448368

-
5CDS-5UTRENST00000367435ENST00000451324CDC73chr1

193121574

+KCNT2chr1

196448368

-
5CDS-5UTRENST00000367435ENST00000294725CDC73chr1

193121574

+KCNT2chr1

196448368

-
intron-3CDSENST00000477868ENST00000367433CDC73chr1

193121574

+KCNT2chr1

196448368

-
intron-intronENST00000477868ENST00000498426CDC73chr1

193121574

+KCNT2chr1

196448368

-
intron-intronENST00000477868ENST00000367431CDC73chr1

193121574

+KCNT2chr1

196448368

-
intron-intronENST00000477868ENST00000609185CDC73chr1

193121574

+KCNT2chr1

196448368

-
intron-5UTRENST00000477868ENST00000451324CDC73chr1

193121574

+KCNT2chr1

196448368

-
intron-5UTRENST00000477868ENST00000294725CDC73chr1

193121574

+KCNT2chr1

196448368

-

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FusionProtFeatures for CDC73_KCNT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC73

Q6P1J9

KCNT2

Q6UVM3

Tumor suppressor probably involved in transcriptionaland post-transcriptional control pathways. May be involved in cellcycle progression through the regulation of cyclin D1/PRAD1expression. Component of the PAF1 complex (PAF1C) which hasmultiple functions during transcription by RNA polymerase II andis implicated in regulation of development and maintenance ofembryonic stem cell pluripotency. PAF1C associates with RNApolymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms andis involved in transcriptional elongation, acting bothindepentently and synergistically with TCEA1 and in cooperationwith the DSIF complex and HTATSF1. PAF1C is required fortranscription of Hox and Wnt target genes. PAF1C is involved inhematopoiesis and stimulates transcriptional activity ofKMT2A/MLL1; it promotes leukemogenesis through association withKMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histonemodifications such as ubiquitination of histone H2B andmethylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits theRNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzymeUBE2A or UBE2B to chromatin which mediate monoubiquitination of'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2Bubiquitination is proposed to be coupled to transcription. PAF1Cis involved in mRNA 3' end formation probably through associationwith cleavage and poly(A) factors. In case of infection byinfluenza A strain H3N2, PAF1C associates with viral NS1 protein,thereby regulating gene transcription. Connects PAF1C with thecleavage and polyadenylation specificity factor (CPSF) complex andthe cleavage stimulation factor (CSTF) complex, and with Wntsignaling. Involved in polyadenylation of mRNA precursors.{ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063,ECO:0000269|PubMed:15923622, ECO:0000269|PubMed:16630820,ECO:0000269|PubMed:16989776, ECO:0000269|PubMed:19136632,ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742,ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879}. Outward rectifying potassium channel. Produces rapidlyactivating outward rectifier K(+) currents. Activated by highintracellular sodium and chloride levels. Channel activity isinhibited by ATP and by inhalation anesthetics, such as isoflurane(By similarity). Inhibited upon stimulation of G-protein coupledreceptors, such as CHRM1 and GRIA1. {ECO:0000250,ECO:0000269|PubMed:14684870, ECO:0000269|PubMed:16687497}.

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
HgeneCDC73chr1:193121574chr1:196448368ENST00000367435+1017125_139324532MotifNote=Nuclear localization signal
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328422_5431081136DomainNote=RCK N-terminal
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327422_5431081112DomainNote=RCK N-terminal
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328229_2491081136IntramembranePore-forming
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327229_2491081112IntramembranePore-forming
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-3281025_10321081136Nucleotide bindingATP
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-3271025_10321081112Nucleotide bindingATP
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328123_1371081136Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328159_1641081136Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328186_1981081136Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328220_2281081136Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328250_2561081136Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328278_11351081136Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327123_1371081112Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327159_1641081112Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327186_1981081112Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327220_2281081112Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327250_2561081112Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327278_11351081112Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328138_1581081136TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328165_1851081136TransmembraneHelical%3B Name%3DSegment S4
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328199_2191081136TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328257_2771081136TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327138_1581081112TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327165_1851081112TransmembraneHelical%3B Name%3DSegment S4
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327199_2191081112TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327257_2771081112TransmembraneHelical%3B Name%3DSegment S6

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDC73chr1:193121574chr1:196448368ENST00000367435+1017361_364324532Compositional biasNote=Poly-Ile
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-3281_631081136Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-32885_1011081136Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-3271_631081112Topological domainCytoplasmic
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-32785_1011081112Topological domainExtracellular
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-328102_1221081136TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNT2chr1:193121574chr1:196448368ENST00000294725-32864_841081136TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-327102_1221081112TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNT2chr1:193121574chr1:196448368ENST00000367433-32764_841081112TransmembraneHelical%3B Name%3DSegment S1


Top

FusionGeneSequence for CDC73_KCNT2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_CDC73_ENST00000367435_chr1_193121574_+_KCNT2_ENST00000367433_chr1_196448368_-_1328aa
MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAATENIPVVRRPD
RKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVE
KIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPA
PNAAPVDPTLRTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTLKSVTVSVALISLFETILLGYLSYKGNIWEQILRIPFILEI
INAVPFIISIFWPSLRNLFVPVFLNCWLAKHALENMINDLHRAIQRTQSAMFNQVLILISTLLCLIFTCICGIQHLERIGKKLNLFDSLY
FCIVTFSTVGFGDVTPETWSSKLFVVAMICVALVVLPIQFEQLAYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFYAH
PRLQDYYVVILCPTEMDVQVRRVLQIPMWSQRVIYLQGSALKDQDLLRAKMDDAEACFILSSRCEVDRTSSDHQTILRAWAVKDFAPNCP
LYVQILKPENKFHIKFADHVVCEEEFKYAMLALNCICPATSTLITLLVHTSRGQEGQQSPEQWQKMYGRCSGNEVYHIVLEESTFFAEYE
GKSFTYASFHAHKKFGVCLIGVRREDNKNILLNPGPRYIMNSTDICFYINITKEENSAFKNQDQQRKSNVSRSFYHGPSRLPVHSIIASM
GTVAIDLQDTSCRSASGPTLSLPTEGSKEIRRPSIAPVLEVADTSSIQTCDLLSDQSEDETTPDEEMSSNLEYAKGYPPYSPYIGSSPTF
CHLLHEKVPFCCLRLDKSCQHNYYEDAKAYGFKNKLIIVAAETAGNGLYNFIVPLRAYYRPKKELNPIVLLLDNPLDDLLRCGVTFAANM
VVVDKESTMSAEEDYMADAKTIVNVQTLFRLFSSLSIITELTHPANMRFMQFRAKDCYSLALSKLEKKERERGSNLAFMFRLPFAAGRVF
SISMLDTLLYQSFVKDYMISITRLLLGLDTTPGSGFLCSMKITADDLWIRTYARLYQKLCSSTGDVPIGIYRTESQKLTTSESQISISVE
EWEDTKDSKEQGHHRSNHRNSTSSDQSDHPLLRRKSMQWARRLSRKGPKHSGKTAEKITQQRLNLYRRSERQELAELVKNRMKHLGLSTV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_CDC73_ENST00000367435_chr1_193121574_+_KCNT2_ENST00000367433_chr1_196448368_-_3984nt
ATGGCGGACGTGCTTAGCGTCCTGCGACAGTACAACATCCAGAAGAAGGAGATTGTGGTGAAGGGAGACGAAGTGATCTTCGGGGAGTTC
TCCTGGCCCAAGAATGTGAAGACCAACTATGTTGTTTGGGGGACTGGAAAGGAAGGCCAACCCAGAGAGTACTACACATTGGATTCCATT
TTATTTCTACTTAATAACGTGCACCTTTCTCATCCTGTTTATGTCCGACGTGCAGCTACTGAAAATATTCCTGTGGTTAGAAGACCTGAT
CGAAAAGATCTACTTGGATATCTCAATGGTGAAGCGTCAACATCGGCAAGTATAGACAGAAGCGCTCCCTTAGAAATAGGTCTTCAGCGA
TCTACTCAAGTCAAACGAGCTGCAGATGAAGTTTTAGCAGAAGCAAAGAAACCACGAATTGAGGATGAAGAGTGTGTGCGCCTTGATAAA
GAGAGATTGGCTGCCCGTTTGGAGGGTCACAAAGAAGGGATTGTACAGACTGAACAGATTAGGTCTTTGTCTGAAGCTATGTCAGTGGAA
AAAATTGCTGCAATCAAAGCCAAAATTATGGCTAAGAAAAGATCTACTATCAAGACTGATCTAGATGATGACATAACTGCCCTTAAACAG
AGGAGTTTTGTGGATGCTGAGGTAGATGTGACCCGAGATATTGTCAGCAGAGAGAGAGTATGGAGGACACGAACAACTATCTTACAAAGC
ACAGGAAAGAATTTTTCCAAGAACATTTTTGCAATTCTTCAATCTGTAAAAGCCAGAGAAGAAGGGCGTGCACCTGAACAGCGACCTGCC
CCAAATGCAGCACCTGTGGATCCCACTTTGCGCACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAAAGGA
AAAGAAGAAACGGAAGGCTTCAAAATTGACACTATGGGAACCTACCATGGTATGACACTGAAATCTGTAACGGTTTCAGTGGCATTGATA
AGTCTGTTTGAAACAATATTACTTGGTTATCTTAGTTATAAGGGAAACATCTGGGAACAGATTTTACGAATACCCTTCATCTTGGAAATA
ATTAATGCAGTTCCCTTCATTATCTCAATATTCTGGCCTTCCTTAAGGAATCTATTTGTCCCAGTCTTTCTGAACTGTTGGCTTGCCAAA
CATGCCTTGGAAAATATGATTAATGATCTACACAGAGCCATTCAGCGTACACAGTCTGCAATGTTTAATCAAGTTTTGATTTTAATATCT
ACATTACTATGCCTTATCTTCACCTGCATTTGTGGGATCCAACATCTGGAACGAATAGGAAAGAAGCTGAATCTCTTTGACTCCCTTTAT
TTCTGCATTGTGACGTTTTCTACTGTGGGCTTCGGGGATGTCACTCCTGAAACATGGTCCTCCAAGCTTTTTGTAGTTGCTATGATTTGT
GTTGCTCTTGTGGTTCTACCCATACAGTTTGAACAGCTGGCTTATTTGTGGATGGAGAGACAAAAGTCAGGAGGAAACTATAGTCGACAT
AGAGCTCAAACTGAAAAGCATGTCGTCCTGTGTGTCAGCTCACTGAAGATTGATTTACTTATGGATTTTTTAAATGAATTCTATGCTCAT
CCTAGGCTCCAGGATTATTATGTGGTGATTTTGTGTCCTACTGAAATGGATGTACAGGTTCGAAGGGTACTGCAGATTCCAATGTGGTCC
CAACGAGTTATCTACCTTCAAGGTTCAGCCCTTAAAGATCAAGACCTATTGAGAGCAAAGATGGATGACGCTGAGGCCTGTTTTATTCTC
AGTAGCCGTTGTGAAGTGGATAGGACATCATCTGATCACCAAACAATTTTGAGAGCATGGGCTGTGAAAGATTTTGCTCCAAATTGTCCT
TTGTATGTCCAGATATTAAAGCCTGAAAATAAATTTCACATCAAATTTGCTGATCATGTTGTTTGTGAAGAAGAGTTTAAATACGCCATG
TTAGCTTTAAACTGTATATGCCCAGCAACATCTACACTTATTACACTACTGGTTCATACCTCTAGAGGGCAAGAAGGCCAGCAATCGCCA
GAACAATGGCAGAAGATGTACGGTAGATGCTCCGGGAATGAAGTCTACCACATTGTTTTGGAAGAAAGTACATTTTTTGCTGAATATGAA
GGAAAGAGTTTTACATATGCCTCTTTCCATGCACACAAAAAGTTTGGCGTCTGCTTGATTGGTGTTAGGAGGGAGGATAATAAAAACATT
TTGCTGAATCCAGGTCCTCGATACATTATGAATTCTACAGACATATGCTTTTATATTAATATTACCAAAGAAGAGAATTCAGCATTTAAA
AACCAAGACCAGCAGAGAAAAAGCAATGTGTCCAGGTCGTTTTATCATGGACCTTCCAGATTACCTGTACATAGCATAATTGCCAGCATG
GGTACTGTGGCTATAGACTTGCAAGATACAAGCTGTAGATCAGCAAGTGGCCCTACCCTGTCTCTTCCTACAGAGGGAAGCAAAGAAATA
AGAAGACCTAGCATTGCTCCTGTTTTAGAGGTTGCAGATACATCATCGATTCAAACATGTGATCTTCTAAGTGACCAATCAGAAGATGAA
ACTACACCAGATGAAGAAATGTCTTCAAACTTAGAGTATGCTAAAGGTTACCCACCTTATTCTCCATATATAGGAAGTTCACCCACTTTT
TGTCATCTCCTTCATGAAAAAGTACCATTTTGCTGCTTAAGATTAGACAAGAGTTGCCAACATAACTACTATGAGGATGCAAAAGCCTAT
GGATTCAAAAATAAACTAATTATAGTTGCAGCTGAAACAGCTGGAAATGGATTATATAACTTTATTGTTCCTCTCAGGGCATATTATAGA
CCAAAGAAAGAACTTAATCCCATAGTACTGCTATTGGATAACCCCCTAGATGACTTACTCAGGTGTGGAGTGACTTTTGCTGCTAATATG
GTGGTTGTGGATAAAGAGAGCACCATGAGTGCCGAGGAAGACTACATGGCAGATGCCAAAACCATTGTGAACGTGCAGACACTCTTCAGG
TTGTTTTCCAGTCTCAGTATTATCACAGAGCTAACTCACCCCGCCAACATGAGATTCATGCAATTCAGAGCCAAAGACTGTTACTCTCTT
GCTCTTTCAAAACTGGAAAAGAAAGAACGGGAGAGAGGCTCTAACTTGGCCTTTATGTTTCGACTGCCTTTTGCTGCTGGGAGGGTGTTT
AGCATCAGTATGTTGGACACTCTGCTGTATCAGTCATTTGTGAAGGATTATATGATTTCTATCACGAGACTTCTGTTGGGACTGGACACT
ACACCAGGATCTGGGTTTCTTTGTTCTATGAAAATCACTGCAGATGACTTATGGATCAGAACTTATGCCAGACTTTATCAGAAGTTGTGT
TCTTCTACTGGAGATGTTCCCATTGGAATCTACAGGACTGAGTCTCAGAAACTTACTACATCTGAGTCTCAAATATCTATCAGTGTAGAA
GAGTGGGAAGACACCAAAGACTCCAAAGAACAAGGGCACCACCGCAGCAACCACCGCAACTCAACATCCAGTGATCAGTCGGACCATCCC
TTGCTGCGGAGAAAAAGCATGCAGTGGGCCCGAAGACTGAGCAGAAAAGGCCCAAAACACTCTGGTAAAACAGCTGAAAAAATAACCCAG
CAGCGACTGAACCTCTACAGGAGGTCAGAAAGACAAGAGCTTGCTGAACTTGTGAAAAATAGAATGAAACACTTGGGTCTTTCTACAGTG
GGATATGATGAAATGAATGATCATCAAAGTACCCTCTCCTACATCCTGATTAACCCATCTCCAGATACCAGAATAGAGCTGAATGATGTT
GTATACTTAATTCGACCAGATCCACTGGCCTACCTTCCAAACAGTGAGCCCAGTCGAAGAAACAGCATCTGCAATGTCACTGGTCAAGAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_CDC73_ENST00000367435_chr1_193121574_+_KCNT2_ENST00000367433_chr1_196448368_-_6613nt
CGGCGGCCTGGGTGGCTACTGCCCCTGCTGCTGTCGTAGGCGAGGACGGCTGTTAGTGCTGCTGCTGTTGGTTCGTCGCGGCGGCGAAGG
AGGAGGAGGAAGAGGGCGAGGCGACAAGAGAAGAAGGAGGCAGGCGCGGCGGCAGCGGCGGCGCCCCGAGCCGGCGGAGGCGAGGGGGGG
GAAGATGGCGGACGTGCTTAGCGTCCTGCGACAGTACAACATCCAGAAGAAGGAGATTGTGGTGAAGGGAGACGAAGTGATCTTCGGGGA
GTTCTCCTGGCCCAAGAATGTGAAGACCAACTATGTTGTTTGGGGGACTGGAAAGGAAGGCCAACCCAGAGAGTACTACACATTGGATTC
CATTTTATTTCTACTTAATAACGTGCACCTTTCTCATCCTGTTTATGTCCGACGTGCAGCTACTGAAAATATTCCTGTGGTTAGAAGACC
TGATCGAAAAGATCTACTTGGATATCTCAATGGTGAAGCGTCAACATCGGCAAGTATAGACAGAAGCGCTCCCTTAGAAATAGGTCTTCA
GCGATCTACTCAAGTCAAACGAGCTGCAGATGAAGTTTTAGCAGAAGCAAAGAAACCACGAATTGAGGATGAAGAGTGTGTGCGCCTTGA
TAAAGAGAGATTGGCTGCCCGTTTGGAGGGTCACAAAGAAGGGATTGTACAGACTGAACAGATTAGGTCTTTGTCTGAAGCTATGTCAGT
GGAAAAAATTGCTGCAATCAAAGCCAAAATTATGGCTAAGAAAAGATCTACTATCAAGACTGATCTAGATGATGACATAACTGCCCTTAA
ACAGAGGAGTTTTGTGGATGCTGAGGTAGATGTGACCCGAGATATTGTCAGCAGAGAGAGAGTATGGAGGACACGAACAACTATCTTACA
AAGCACAGGAAAGAATTTTTCCAAGAACATTTTTGCAATTCTTCAATCTGTAAAAGCCAGAGAAGAAGGGCGTGCACCTGAACAGCGACC
TGCCCCAAATGCAGCACCTGTGGATCCCACTTTGCGCACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAA
AGGAAAAGAAGAAACGGAAGGCTTCAAAATTGACACTATGGGAACCTACCATGGTATGACACTGAAATCTGTAACGGTTTCAGTGGCATT
GATAAGTCTGTTTGAAACAATATTACTTGGTTATCTTAGTTATAAGGGAAACATCTGGGAACAGATTTTACGAATACCCTTCATCTTGGA
AATAATTAATGCAGTTCCCTTCATTATCTCAATATTCTGGCCTTCCTTAAGGAATCTATTTGTCCCAGTCTTTCTGAACTGTTGGCTTGC
CAAACATGCCTTGGAAAATATGATTAATGATCTACACAGAGCCATTCAGCGTACACAGTCTGCAATGTTTAATCAAGTTTTGATTTTAAT
ATCTACATTACTATGCCTTATCTTCACCTGCATTTGTGGGATCCAACATCTGGAACGAATAGGAAAGAAGCTGAATCTCTTTGACTCCCT
TTATTTCTGCATTGTGACGTTTTCTACTGTGGGCTTCGGGGATGTCACTCCTGAAACATGGTCCTCCAAGCTTTTTGTAGTTGCTATGAT
TTGTGTTGCTCTTGTGGTTCTACCCATACAGTTTGAACAGCTGGCTTATTTGTGGATGGAGAGACAAAAGTCAGGAGGAAACTATAGTCG
ACATAGAGCTCAAACTGAAAAGCATGTCGTCCTGTGTGTCAGCTCACTGAAGATTGATTTACTTATGGATTTTTTAAATGAATTCTATGC
TCATCCTAGGCTCCAGGATTATTATGTGGTGATTTTGTGTCCTACTGAAATGGATGTACAGGTTCGAAGGGTACTGCAGATTCCAATGTG
GTCCCAACGAGTTATCTACCTTCAAGGTTCAGCCCTTAAAGATCAAGACCTATTGAGAGCAAAGATGGATGACGCTGAGGCCTGTTTTAT
TCTCAGTAGCCGTTGTGAAGTGGATAGGACATCATCTGATCACCAAACAATTTTGAGAGCATGGGCTGTGAAAGATTTTGCTCCAAATTG
TCCTTTGTATGTCCAGATATTAAAGCCTGAAAATAAATTTCACATCAAATTTGCTGATCATGTTGTTTGTGAAGAAGAGTTTAAATACGC
CATGTTAGCTTTAAACTGTATATGCCCAGCAACATCTACACTTATTACACTACTGGTTCATACCTCTAGAGGGCAAGAAGGCCAGCAATC
GCCAGAACAATGGCAGAAGATGTACGGTAGATGCTCCGGGAATGAAGTCTACCACATTGTTTTGGAAGAAAGTACATTTTTTGCTGAATA
TGAAGGAAAGAGTTTTACATATGCCTCTTTCCATGCACACAAAAAGTTTGGCGTCTGCTTGATTGGTGTTAGGAGGGAGGATAATAAAAA
CATTTTGCTGAATCCAGGTCCTCGATACATTATGAATTCTACAGACATATGCTTTTATATTAATATTACCAAAGAAGAGAATTCAGCATT
TAAAAACCAAGACCAGCAGAGAAAAAGCAATGTGTCCAGGTCGTTTTATCATGGACCTTCCAGATTACCTGTACATAGCATAATTGCCAG
CATGGGTACTGTGGCTATAGACTTGCAAGATACAAGCTGTAGATCAGCAAGTGGCCCTACCCTGTCTCTTCCTACAGAGGGAAGCAAAGA
AATAAGAAGACCTAGCATTGCTCCTGTTTTAGAGGTTGCAGATACATCATCGATTCAAACATGTGATCTTCTAAGTGACCAATCAGAAGA
TGAAACTACACCAGATGAAGAAATGTCTTCAAACTTAGAGTATGCTAAAGGTTACCCACCTTATTCTCCATATATAGGAAGTTCACCCAC
TTTTTGTCATCTCCTTCATGAAAAAGTACCATTTTGCTGCTTAAGATTAGACAAGAGTTGCCAACATAACTACTATGAGGATGCAAAAGC
CTATGGATTCAAAAATAAACTAATTATAGTTGCAGCTGAAACAGCTGGAAATGGATTATATAACTTTATTGTTCCTCTCAGGGCATATTA
TAGACCAAAGAAAGAACTTAATCCCATAGTACTGCTATTGGATAACCCCCTAGATGACTTACTCAGGTGTGGAGTGACTTTTGCTGCTAA
TATGGTGGTTGTGGATAAAGAGAGCACCATGAGTGCCGAGGAAGACTACATGGCAGATGCCAAAACCATTGTGAACGTGCAGACACTCTT
CAGGTTGTTTTCCAGTCTCAGTATTATCACAGAGCTAACTCACCCCGCCAACATGAGATTCATGCAATTCAGAGCCAAAGACTGTTACTC
TCTTGCTCTTTCAAAACTGGAAAAGAAAGAACGGGAGAGAGGCTCTAACTTGGCCTTTATGTTTCGACTGCCTTTTGCTGCTGGGAGGGT
GTTTAGCATCAGTATGTTGGACACTCTGCTGTATCAGTCATTTGTGAAGGATTATATGATTTCTATCACGAGACTTCTGTTGGGACTGGA
CACTACACCAGGATCTGGGTTTCTTTGTTCTATGAAAATCACTGCAGATGACTTATGGATCAGAACTTATGCCAGACTTTATCAGAAGTT
GTGTTCTTCTACTGGAGATGTTCCCATTGGAATCTACAGGACTGAGTCTCAGAAACTTACTACATCTGAGTCTCAAATATCTATCAGTGT
AGAAGAGTGGGAAGACACCAAAGACTCCAAAGAACAAGGGCACCACCGCAGCAACCACCGCAACTCAACATCCAGTGATCAGTCGGACCA
TCCCTTGCTGCGGAGAAAAAGCATGCAGTGGGCCCGAAGACTGAGCAGAAAAGGCCCAAAACACTCTGGTAAAACAGCTGAAAAAATAAC
CCAGCAGCGACTGAACCTCTACAGGAGGTCAGAAAGACAAGAGCTTGCTGAACTTGTGAAAAATAGAATGAAACACTTGGGTCTTTCTAC
AGTGGGATATGATGAAATGAATGATCATCAAAGTACCCTCTCCTACATCCTGATTAACCCATCTCCAGATACCAGAATAGAGCTGAATGA
TGTTGTATACTTAATTCGACCAGATCCACTGGCCTACCTTCCAAACAGTGAGCCCAGTCGAAGAAACAGCATCTGCAATGTCACTGGTCA
AGATTCTCGGGAGGAAACTCAACTTTGATAAAAATAAAATGAGAAACTTTTTTCCTACAAAGACCTTGCTTGAAACCACAAAAGTTTTGC
TGGCACGAAAGAAACTAGATGGAAATATATGTAATTCTCTCATATTTAAAAACGTAATCTCTTCTCTTAGAAGTATAGATCATTTTGAAA
CTTAATGTACTACTTACTGGTACTCTCCCTATTAATATTTGAAGGACCTCAATGGAATAAATTTGAAAAGCTAAATTAAAATACAAAAAT
TTAAATCTGACATTTAATTGTTTTATAATAATCCAAACTCTATGAAAGCAATTTTAAAAATTATTAAGGTTTTATGAAGTTGACAAAATC
TAACTATATTTGGTGCATCACAATGGACACAGAATGCTGCTGCTCCTCTTAAAAATTAAATGTGTCATATTATATTCTTTAAACTTACTG
TTTTACAAAATTGAGCTCATCGTAAATGTCTAGTCTTCTCACATAGAGATTAACCAACAAACTTGTGTGGCTGACTTTTGTGTAAGAATC
ATAGTTTGCTTTAGAATACAAATCTTTAAGTCATTTTAACTTTTTTTTCTGCCTTACGATATAAAAATATTTATCTTAGAATTTGAGATG
TTCATAGCATGTTTTATTACATTGAAGAAACTAAAACATAAATGAAAAGAAACACTAGGTTCCTGCACTTTTTGGTAACTTTATGTCTAG
CAAATATTTTATGCCAAGAAAAGCATACTATAAAGCAAATATCTATTATTCTCCTAAACGAATGCCTAGCATAGAGAAAATACTTAATAC
ACATTTGTTGACTTAAATTTAATTCAAGGATTGAAAAATTAACTGGATATCTTGAAATATACAGTAATGATTGTCCTTAGACTCTTGAAC
TTTACCATCTTTCCTATTCATATATCTATATAGTAAATTTCACTAGAAAAATTCTTTTAAAATTGACAGAAGATAATTTATACCTTTTAT
GGACTCTGAAGACACTTCAAAACATTAAAAGTCCTTATGTCTTTGGTAATGAAACAATAACACTCAATGAAGGATGTATTAAAATTTTTG
ACTTAATTTTGAAATCGTATATATGAGCTATACTTTAACATTATGAGAGAAAAGCATAAAACAAAAATAGGTAGTTCTTGGCTTTTAACA
TTAATGCAAATCATGCAGAATTTGAGTTATAAATTTAAATATAAATTGACCATTGATGATATCCAGTTTTTCATTTTTTACCTGTATTGC
ATTTTCCCCCTAGAGAAATAGATCAAAAGAGCACAAGAGTATGCGTACATAGTTTACCAGGTAGTAGAAGTGTGTTAAAATGTTCCTGTA
AAAGAAACATTGGTAAATTTAAATACATACTGTTCTAATTTTGTATTTTTTAATTTTTGAATTTGACATTGAGTTTAATTCAGCAACAAC
AAAAAATACATATAAAACTAGAAAGGGACTTTTTTTCCTTTCTTTTCATAATGAAGCAGATCAACTTAAAGGATAATAAAATTTTTAAAG
AAAAGATATTCTAATGTACTCTCAATAATTCTACAGAAATAAAACTGTAAAGTGCAATGTGAAATCAAAGATTATAGTCATTGTATAATT
TGGCTTGGAGGCTATGAAATGTCTTTTTTTCTTTTTGGTATTTTACATTATTCACATTTTAGAATAACAAGAACACCAAGAATTACCCCT
AAAACAGAGACCCTGTATTTAATCTACTTTGATCAGAGAAGTAGAATTTATAACAGGTTAGCTAAAATTGGGAGCATGCCTTAAAACTTA
AAGATTGTATGCATATATGTGTATATGTTATAAACGTGAAATATATTTGACACACACATTCACATATAAATTGTTAAAAACTGAAGGCAG
AATGGAACTAATATATGTAACAGAGAAAAACAATAAATTTTATGAACTTGTTTTATATTTGCATATCAAGAGTCAAGTATGATGTTTCTT
TAAGTTGACTTTTTTTACTTCATTATTTTTAGGAATAAATGTAAGATTTTACAAATCTTTTATTTCCCCACAAGATCTGAAGTTTGGTAT
TTTTGCATTATGACAGTTGTTGAGACTAGGATTTTAAGCTAGGATATGATTATATTTCCTATATAACTAAAAATTTTGTTTCATAAATTT
TAAAATAATTATTTTTGACTATGAACATTAGTCCAAATTTAATATTTGACACAGTTCATACCAGCTTGCTACAATAATGATAATTTATTA
GTCTTTCTGTTATTTAAAGAATAAAAACATGCTTATAAAAGACTTTTAATGAAATGTTGCCTTTTTAAAATAATTATACTTGCACATGAA
AATAAAATATAAAGTCAATAATAGTCCTTGTAGCCCAATGGGAATTGATTCTGTTTATTGTCTGTACCATTTTGCTACCAGTTACATTGA


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FusionGenePPI for CDC73_KCNT2


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
CDC73ANXA6, HSPA4, PITHD1, KCNH2, GC, WWC1, RANBP2, CTR9, LEO1, PAF1, POLR2A, CDK9, MEPCE, KMT2A, CPSF1, CPSF2, CPSF3, RRAGA, CSTF2, KMT2C, ASH2L, RBBP5, CPSF4, CSTF3, TCEA1, RTF1, MCM3AP, DDAH2, HAP1, CEP70, HSF2BP, ITFG1, FAF1, RNF20, RNF40, HSP90AA1, WDR61, HIST1H3A, PTPN11, CTNNB1, SUV39H1, GTF2F1, BCL9L, SOX2, DNMT3A, DNMT3B, ARFGEF2, CHUK, COG3, MYH14, NUP98, MYH9, MYL12A, GPRASP2, CIAO1, AURKB, ALAS1, GOLGA2, TFCP2, MTUS2, VPS37B, TSGA10, FSD2, CCDC155, HIST1H1A, HIST1H1C, NTRK1, AP3B1, AP3D1, AP3S1, SRRM2, NUMA1, TCF7L2, KRAS, XPO1, RAD51, TCEB2, BRPF1, SCAMP3, UQCRQ, IMPACT, MRPS15, CD44, POLR2G, RFX5, SUPT5H, AP4S1, CNTROB, C1orf131, MYC, SNW1, CDC5L, NANOG, HIST2H2BE, HIST3H3, PDIA6, DHRS2, LANCL1, ANP32B, CCT4, CCT2, PAICS, GNA13, CCT8, CFL1, RAB10, YWHAQ, DCD, CLTC, CNN3, MYO3B, RAB40A, CSE1L, DSG1, DSP, EEF1A1, EEF1A2, EEF1D, EEF1G, EEF2, EIF2S1, EIF2S3, ENO1, EPRS, ALB, ALCAM, ALDOA, FKBP4, CCT5, ERP44, FLNA, FLNB, FLNC, EXOC7, G6PD, GAPDH, PHGDH, FBXO3, RAB30, GNA12, SFN, RAB40AL, CCDC88B, ANXA1, ANXA2, HADHA, HK1, HNRNPF, HNRNPK, HSD17B4, DNAJA1, HSPA2, HSPA5, HSPA8, HSPA9, HSPB1, HSP90AB1, HSPD1, TUBB8, ITGB1, JUP, KARS, ARF1, ARF3, ARF4, FLG2, RPSA, LDHA, RAB8A, MIF, POTEE, MSN, MTHFD1, NEFH, NNMT, NUCB2, ATP5A1, PRDX1, ATP5B, PCBP1, PCNA, SAR1B, PFN1, PGD, PKM, PLG, PCBP3, PPA1, PRKDC, PRSS1, PSMC2, PSMD2, RAB1A, RAB2A, RAB5A, RAB5C, RAN, RARS, RNH1, RPL7, RPL11, RPL22, RPLP0, RPN1, RPN2, RPS3, RPS5, RPS10, RPS17, RPS27A, SLC3A2, SNRPA1, TCP1, TFRC, HSP90B1, CCT3, UBA52, UBB, UBC, VCP, VIM, YWHAB, YWHAE, YWHAZ, ACTN4, CALR, SLC7A5, HM13, RAB1B, CANX, CLTCL1, CAPZB, TAGLN2, ACTN1, GBF1, CCT6A, CAND1, CUL1, UBA1, FBXO21, RUVBL2, TULP2, ERMAP, CHEK2, CHEK1, TOP1, TOP2A, TOP3A, DHFR, WEE1, IMPDH1, TUBA1A, NCL, G3BP1, UHRF2, TESKCNT2ZNRF4, SLC17A2, IL17RC, PCDHA3, PCDHB16, TNFRSF10A, IL4R, FAM189B


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneCDC73chr1:193121574chr1:196448368ENST00000367435+1017200_250324532CTNNB1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneCDC73chr1:193121574chr1:196448368ENST00000367435+1017200_531324532POLR2A and PAF1


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


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RelatedDrugs for CDC73_KCNT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CDC73_KCNT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC73C1840402HYPERPARATHYROIDISM 13CTD_human;ORPHANET;UNIPROT
HgeneCDC73C1704981Hyperparathyroidism-Jaw Tumor Syndrome1CTD_human;ORPHANET;UNIPROT