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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:CDC73-KCNT2 (FusionGDB2 ID:HG79577TG343450)

Fusion Gene Summary for CDC73-KCNT2

Fusion gene summary

Fusion gene information	Fusion gene name: CDC73-KCNT2
	Fusion gene ID: hg79577tg343450
		Hgene	Tgene
	Gene symbol	CDC73	KCNT2
	Gene ID	79577	343450
	Gene name	cell division cycle 73	potassium sodium-activated channel subfamily T member 2
	Synonyms	C1orf28\|FIHP\|HPTJT\|HRPT1\|HRPT2\|HYX	EIEE57\|KCa4.2\|SLICK\|SLO2.1
	Cytomap	('CDC73')('KCNT2') 1q31.2	1q31.3
	Type of gene	protein-coding	protein-coding
	Description	parafibrominFamilial isolated hyperparathyroidismPaf1/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 divisio	potassium 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 date	20200313	20200322
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000367435, ENST00000477868,
Fusion gene scores	* DoF score	8 X 6 X 6=288	7 X 6 X 5=210
	# samples	8	7
	** MAII score	log2(8/288*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/210*10)=-1.58496250072116 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]
Most frequent breakpoint	CDC73(193121574)-KCNT2(196448368), # samples:1
Anticipated loss of major functional domain due to fusion event.	CDC73-KCNT2 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. CDC73-KCNT2 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. CDC73-KCNT2 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. CDC73-KCNT2 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	CDC73	GO:0008285	negative regulation of cell proliferation	16989776
Hgene	CDC73	GO:0010390	histone monoubiquitination	16307923
Hgene	CDC73	GO:0030177	positive regulation of Wnt signaling pathway	16630820
Hgene	CDC73	GO:0032968	positive regulation of transcription elongation from RNA polymerase II promoter	20178742
Hgene	CDC73	GO:0033523	histone H2B ubiquitination	16307923
Hgene	CDC73	GO:0045638	negative regulation of myeloid cell differentiation	20541477
Hgene	CDC73	GO:0045944	positive regulation of transcription by RNA polymerase II	20178742
Hgene	CDC73	GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	16989776

Fusion gene breakpoints across CDC73 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across KCNT2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	SKCM	TCGA-FS-A1ZU-06A	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-

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Fusion Gene ORF analysis for CDC73-KCNT2

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-5UTR	ENST00000367435	ENST00000294725	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
5CDS-5UTR	ENST00000367435	ENST00000451324	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
5CDS-intron	ENST00000367435	ENST00000367431	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
5CDS-intron	ENST00000367435	ENST00000498426	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
5CDS-intron	ENST00000367435	ENST00000609185	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
In-frame	ENST00000367435	ENST00000367433	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
intron-3CDS	ENST00000477868	ENST00000367433	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
intron-5UTR	ENST00000477868	ENST00000294725	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
intron-5UTR	ENST00000477868	ENST00000451324	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
intron-intron	ENST00000477868	ENST00000367431	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
intron-intron	ENST00000477868	ENST00000498426	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-
intron-intron	ENST00000477868	ENST00000609185	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000367435

CDC73

chr1

193121574

ENST00000367433

KCNT2

chr1

196448368

6613

1156

4167

1386

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000367435	ENST00000367433	CDC73	chr1	193121574	+	KCNT2	chr1	196448368	-	0.000176324	0.99982375

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Fusion Genomic Features for CDC73-KCNT2

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

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Fusion Protein Features for CDC73-KCNT2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:193121574/chr1:196448368)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

CDC73

chr1:193121574

chr1:196448368

ENST00000367435

125_139

324

532.0

Motif

Note=Nuclear localization signal

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

422_543

108

1136.0

Domain

Note=RCK N-terminal

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

422_543

108

1112.0

Domain

Note=RCK N-terminal

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

229_249

108

1136.0

Intramembrane

Pore-forming

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

229_249

108

1112.0

Intramembrane

Pore-forming

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

1025_1032

108

1136.0

Nucleotide binding

ATP

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

1025_1032

108

1112.0

Nucleotide binding

ATP

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

123_137

108

1136.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

159_164

108

1136.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

186_198

108

1136.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

220_228

108

1136.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

250_256

108

1136.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

278_1135

108

1136.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

123_137

108

1112.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

159_164

108

1112.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

186_198

108

1112.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

220_228

108

1112.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

250_256

108

1112.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

278_1135

108

1112.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

138_158

108

1136.0

Transmembrane

Helical%3B Name%3DSegment S3

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

165_185

108

1136.0

Transmembrane

Helical%3B Name%3DSegment S4

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

199_219

108

1136.0

Transmembrane

Helical%3B Name%3DSegment S5

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

257_277

108

1136.0

Transmembrane

Helical%3B Name%3DSegment S6

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

138_158

108

1112.0

Transmembrane

Helical%3B Name%3DSegment S3

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

165_185

108

1112.0

Transmembrane

Helical%3B Name%3DSegment S4

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

199_219

108

1112.0

Transmembrane

Helical%3B Name%3DSegment S5

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

257_277

108

1112.0

Transmembrane

Helical%3B Name%3DSegment S6

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

CDC73

chr1:193121574

chr1:196448368

ENST00000367435

361_364

324

532.0

Compositional bias

Note=Poly-Ile

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

1_63

108

1136.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

85_101

108

1136.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

1_63

108

1112.0

Topological domain

Cytoplasmic

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

85_101

108

1112.0

Topological domain

Extracellular

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

102_122

108

1136.0

Transmembrane

Helical%3B Name%3DSegment S2

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000294725

64_84

108

1136.0

Transmembrane

Helical%3B Name%3DSegment S1

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

102_122

108

1112.0

Transmembrane

Helical%3B Name%3DSegment S2

Tgene

KCNT2

chr1:193121574

chr1:196448368

ENST00000367433

64_84

108

1112.0

Transmembrane

Helical%3B Name%3DSegment S1

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Fusion Gene Sequence for CDC73-KCNT2

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.

>14943_14943_1_CDC73-KCNT2_CDC73_chr1_193121574_ENST00000367435_KCNT2_chr1_196448368_ENST00000367433_length(transcript)=6613nt_BP=1156nt
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

>14943_14943_1_CDC73-KCNT2_CDC73_chr1_193121574_ENST00000367435_KCNT2_chr1_196448368_ENST00000367433_length(amino acids)=1386AA_BP=383
MGGYCPCCCRRRGRLLVLLLLVRRGGEGGGGRGRGDKRRRRQARRQRRRPEPAEARGGKMADVLSVLRQYNIQKKEIVVKGDEVIFGEFS
WPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRS
TQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQR
SFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKGK
EETEGFKIDTMGTYHGMTLKSVTVSVALISLFETILLGYLSYKGNIWEQILRIPFILEIINAVPFIISIFWPSLRNLFVPVFLNCWLAKH
ALENMINDLHRAIQRTQSAMFNQVLILISTLLCLIFTCICGIQHLERIGKKLNLFDSLYFCIVTFSTVGFGDVTPETWSSKLFVVAMICV
ALVVLPIQFEQLAYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPMWSQ
RVIYLQGSALKDQDLLRAKMDDAEACFILSSRCEVDRTSSDHQTILRAWAVKDFAPNCPLYVQILKPENKFHIKFADHVVCEEEFKYAML
ALNCICPATSTLITLLVHTSRGQEGQQSPEQWQKMYGRCSGNEVYHIVLEESTFFAEYEGKSFTYASFHAHKKFGVCLIGVRREDNKNIL
LNPGPRYIMNSTDICFYINITKEENSAFKNQDQQRKSNVSRSFYHGPSRLPVHSIIASMGTVAIDLQDTSCRSASGPTLSLPTEGSKEIR
RPSIAPVLEVADTSSIQTCDLLSDQSEDETTPDEEMSSNLEYAKGYPPYSPYIGSSPTFCHLLHEKVPFCCLRLDKSCQHNYYEDAKAYG
FKNKLIIVAAETAGNGLYNFIVPLRAYYRPKKELNPIVLLLDNPLDDLLRCGVTFAANMVVVDKESTMSAEEDYMADAKTIVNVQTLFRL
FSSLSIITELTHPANMRFMQFRAKDCYSLALSKLEKKERERGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMISITRLLLGLDTT
PGSGFLCSMKITADDLWIRTYARLYQKLCSSTGDVPIGIYRTESQKLTTSESQISISVEEWEDTKDSKEQGHHRSNHRNSTSSDQSDHPL
LRRKSMQWARRLSRKGPKHSGKTAEKITQQRLNLYRRSERQELAELVKNRMKHLGLSTVGYDEMNDHQSTLSYILINPSPDTRIELNDVV

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Fusion Gene PPI Analysis for CDC73-KCNT2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Still interaction with
Hgene	CDC73	chr1:193121574	chr1:196448368	ENST00000367435	+	10	17	200_250	324.0	532.0	CTNNB1

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	CDC73	chr1:193121574	chr1:196448368	ENST00000367435	+	10	17	200_531	324.0	532.0	POLR2A and PAF1

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for CDC73-KCNT2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for CDC73-KCNT2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CDC73	C1704981	Hyperparathyroidism-Jaw Tumor Syndrome	9	CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	CDC73	C1840402	HYPERPARATHYROIDISM 1	6	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	CDC73	C0687150	Parathyroid Gland Adenocarcinoma	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	CDC73	C4551961	Familial Isolated Hyperparathyroidism	1	CTD_human;ORPHANET
Tgene		C4540411	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57	2	GENOMICS_ENGLAND;UNIPROT
Tgene		C0014544	Epilepsy	1	GENOMICS_ENGLAND

Fusion Gene Studies in Kim Lab

Fusion gene:CDC73-KCNT2 (FusionGDB2 ID:HG79577TG343450)

Fusion Gene Summary for CDC73-KCNT2

Fusion Gene ORF analysis for CDC73-KCNT2

Fusion Genomic Features for CDC73-KCNT2

Fusion Protein Features for CDC73-KCNT2

Fusion Gene Sequence for CDC73-KCNT2

Fusion Gene PPI Analysis for CDC73-KCNT2

Related Drugs for CDC73-KCNT2

Related Diseases for CDC73-KCNT2

Fusion Gene Studies
in Kim Lab