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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:RBCK1-ANO9 (FusionGDB2 ID:72622)

Fusion Gene Summary for RBCK1-ANO9

Fusion gene summary

Fusion gene information	Fusion gene name: RBCK1-ANO9
	Fusion gene ID: 72622
		Hgene	Tgene
	Gene symbol	RBCK1	ANO9
	Gene ID	10616	338440
	Gene name	RANBP2-type and C3HC4-type zinc finger containing 1	anoctamin 9
	Synonyms	C20orf18\|HOIL-1\|HOIL1\|PBMEI\|PGBM1\|RBCK2\|RNF54\|UBCE7IP3\|XAP3\|XAP4\|ZRANB4	PIG5\|TMEM16J\|TP53I5
	Cytomap	20p13	11p15.5
	Type of gene	protein-coding	protein-coding
	Description	ranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated pro	anoctamin-9p53-induced gene 5 proteintransmembrane protein 16Jtumor protein p53-inducible protein 5
	Modification date	20200327	20200320
	UniProtAcc	.	A1A5B4
	Ensembl transtripts involved in fusion gene	ENST00000382181, ENST00000353660, ENST00000356286, ENST00000400245, ENST00000400247, ENST00000475269,	ENST00000332826,
Fusion gene scores	* DoF score	9 X 5 X 6=270	4 X 4 X 4=64
	# samples	8	4
	** MAII score	log2(8/270*10)=-1.75488750216347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RBCK1 [Title/Abstract] AND ANO9 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RBCK1(400375)-ANO9(428826), # samples:1
Anticipated loss of major functional domain due to fusion event.	RBCK1-ANO9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. RBCK1-ANO9 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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	RBCK1	GO:0000209	protein polyubiquitination	12629548\|17006537
Hgene	RBCK1	GO:0032088	negative regulation of NF-kappaB transcription factor activity	17449468
Hgene	RBCK1	GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	19136968\|21455173
Hgene	RBCK1	GO:0050852	T cell receptor signaling pathway	20005846
Hgene	RBCK1	GO:0051092	positive regulation of NF-kappaB transcription factor activity	19136968
Hgene	RBCK1	GO:0097039	protein linear polyubiquitination	21455173\|21455180\|21455181\|23453807
Tgene	ANO9	GO:1902939	negative regulation of intracellular calcium activated chloride channel activity	22946059

Fusion gene breakpoints across RBCK1 (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 ANO9 (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 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	READ	TCGA-F5-6465-01A	RBCK1	chr20	400375	+	ANO9	chr11	428826	-

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Fusion Gene ORF analysis for RBCK1-ANO9

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
Frame-shift	ENST00000382181	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-
In-frame	ENST00000353660	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-
In-frame	ENST00000356286	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-
intron-3CDS	ENST00000400245	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-
intron-3CDS	ENST00000400247	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-
intron-3CDS	ENST00000475269	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-

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)

ENST00000356286

RBCK1

chr20

400375

ENST00000332826

ANO9

chr11

428826

3003

1461

576

2894

772

ENST00000353660

RBCK1

chr20

400375

ENST00000332826

ANO9

chr11

428826

2740

1198

568

2631

687

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
ENST00000356286	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-	0.013899358	0.9861006
ENST00000353660	ENST00000332826	RBCK1	chr20	400375	+	ANO9	chr11	428826	-	0.021792728	0.9782073

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Fusion Genomic Features for RBCK1-ANO9

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.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RBCK1-ANO9

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:400375/chr11:428826)
- 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
.	ANO9 A1A5B4
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: Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:22178883). Can inhibit the activity of ANO1 (PubMed:20056604, PubMed:22946059). {ECO:0000250\|UniProtKB:P86044, ECO:0000269\|PubMed:20056604, ECO:0000269\|PubMed:22178883, ECO:0000269\|PubMed:22946059}.

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

RBCK1

chr20:400375

chr11:428826

ENST00000353660

55_119

210

469.0

Domain

Ubiquitin-like

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

55_119

252

511.0

Domain

Ubiquitin-like

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

193_222

252

511.0

Zinc finger

RanBP2-type

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

353_373

305

783.0

Topological domain

Extracellular

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

395_423

305

783.0

Topological domain

Cytoplasmic

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

445_552

305

783.0

Topological domain

Extracellular

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

574_604

305

783.0

Topological domain

Cytoplasmic

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

626_703

305

783.0

Topological domain

Extracellular

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

725_782

305

783.0

Topological domain

Cytoplasmic

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

332_352

305

783.0

Transmembrane

Helical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

374_394

305

783.0

Transmembrane

Helical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

424_444

305

783.0

Transmembrane

Helical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

553_573

305

783.0

Transmembrane

Helical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

605_625

305

783.0

Transmembrane

Helical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

704_724

305

783.0

Transmembrane

Helical

- 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

RBCK1

chr20:400375

chr11:428826

ENST00000353660

233_261

210

469.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

233_261

252

511.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000353660

278_506

210

469.0

Region

TRIAD supradomain

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

278_506

252

511.0

Region

TRIAD supradomain

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000353660

193_222

210

469.0

Zinc finger

RanBP2-type

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000353660

282_332

210

469.0

Zinc finger

RING-type 1

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000353660

351_411

210

469.0

Zinc finger

IBR-type

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000353660

447_476

210

469.0

Zinc finger

RING-type 2%3B atypical

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

282_332

252

511.0

Zinc finger

RING-type 1

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

351_411

252

511.0

Zinc finger

IBR-type

Hgene

RBCK1

chr20:400375

chr11:428826

ENST00000356286

447_476

252

511.0

Zinc finger

RING-type 2%3B atypical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

1_198

305

783.0

Topological domain

Cytoplasmic

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

220_264

305

783.0

Topological domain

Extracellular

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

286_331

305

783.0

Topological domain

Cytoplasmic

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

199_219

305

783.0

Transmembrane

Helical

Tgene

ANO9

chr20:400375

chr11:428826

ENST00000332826

265_285

305

783.0

Transmembrane

Helical

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Fusion Gene Sequence for RBCK1-ANO9

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.

>72622_72622_1_RBCK1-ANO9_RBCK1_chr20_400375_ENST00000353660_ANO9_chr11_428826_ENST00000332826_length(transcript)=2740nt_BP=1198nt
GCGCCGGGACCGCTGGGACCCCGCACTCGGCGTCCGCCGCCGCCGGGTAGCCGGGCAGTGGAGGTCCCGGATGAGGCGACAATTTTTCCG
GCCCCCCCTCCCAGTCCCGCCCCACTTCCGGGGCCGCCACTTTCACTTTCTCTTCCGCCGAAGCCGCTCCCCTTGCGAAGAACTGGGGCC
TCCCGGGAGGAGAGAGGGCTTTGCCTTGAAACCCGGGACGCCAGGGGCGCTCCCGCAAGTGGGGGTCCTCCGGGACTTGGAACGCCCCGG
CTGGGTGGTGTCCGGGCGTCCTTTCCCCGCTTCTTCCCACCTCGGCTGGTCCCGTTTCCTCCTGCGCCCAGTGCGGACCTGTCTCGGCGC
CCGCTGCCCTCTCACCGCCCCACGCAGGATCCCGGCCTGGTCACCGGGCAGTGTGATGCTTCCCGACTGCCGCGGGGACAGCGAGGCACA
CACAGGGCTTGGGCCGCGCCGGAGGCCACACGGCCTGGCTGAGTTGCTCCTGGTCTCCCGCCTCTCCCAGGCGACCCGGAGGTAGCATTT
CCCAGGAGGCACGGTCCCCCCCAGGGGGATGGGCACAGCCACGCCAGATGGACGAGAAGACCAAGAAAGGCTGTGGGTGAGCGTGGAGGA
TGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTTTTTCTGGACTATGG
CTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGG
GGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGA
AGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACG
GGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTG
TGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGA
GGAGGAGGCGCTGCGTCAGTACCAGCAGGAGGAAATGGCACTTCAGCTCATTAACTGCCCCGACTACAAGCTCCGGCCATACCAGCACTC
CTACCTACGCAGCACCGTCATCCTCGTCCTGACCCTGCTCATGATCTGCCTCATGATCGGCATGGCCCACGTCCTGGTGGTCTACCGCGT
CCTGGCCTCCGCGCTCTTCAGCAGCTCGGCCGTGCCCTTCCTGGAGGAGCAGGTGACCACGGCCGTGGTGGTGACCGGGGCTCTGGTGCA
CTATGTGACCATCATCATCATGACCAAGATCAACAGGTGCGTGGCCCTGAAGCTTTGTGACTTCGAGATGCCCAGGACCTTCTCGGAGCG
AGAGAGCAGGTTCACCATCCGCTTCTTCACACTGCAGTTCTTCACCCATTTCTCGTCTCTCATCTACATCGCCTTCATCCTGGGCAGGAT
CAACGGCCACCCCGGGAAGTCCACGCGCCTGGCGGGCTTGTGGAAGCTGGAAGAGTGCCACGCCAGCGGCTGCATGATGGACCTCTTCGT
GCAGATGGCCATCATCATGGGCCTGAAGCAGACGCTCAGCAACTGCGTCGAGTACCTGGTCCCGTGGGTGACCCACAAGTGCCGCTCTCT
GCGGGCCTCCGAGTCCGGGCACCTGCCCCGGGACCCCGAGCTCAGGGACTGGCGGCGCAACTACCTTCTGAACCCGGTCAACACCTTCAG
CCTGTTCGACGAGTTCATGGAGATGATGATCCAGTACGGCTTCACCACCATCTTCGTGGCCGCCTTCCCGCTGGCGCCGCTGCTCGCGCT
CTTCAGCAACCTCGTGGAGATCCGCCTGGACGCCATCAAGATGGTCTGGTTGCAGCGGCGCCTGGTGCCGCGCAAGGCCAAGGACATCGG
GACCTGGCTGCAGGTGCTGGAGACCATCGGTGTGCTGGCGGTCATTGCCAATGGGATGGTCATTGCCTTCACATCTGAGTTCATCCCCCG
AGTGGTCTACAAGTACCGCTATAGCCCATGCCTGAAAGAAGGCAACTCTACTGTCGACTGCCTCAAGGGCTACGTCAACCACAGCCTGTC
CGTCTTCCACACCAAGGACTTCCAGGACCCTGATGGGATTGAGGGCTCAGAAAACGTGACTCTGTGCAGATACAGGGACTACCGCAATCC
CCCCGATTACAACTTCTCCGAGCAGTTCTGGTTCCTCCTGGCCATCCGCCTGGCCTTCGTCATCCTCTTTGAGCACGTGGCCTTGTGCAT
CAAGCTCATCGCCGCCTGGTTCGTGCCCGACATCCCTCAGTCGGTGAAGAACAAGGTTCTGGAGGTGAAGTACCAGAGGCTGCGTGAGAA
GATGTGGCATGGAAGGCAGAGGCTGGGTGGGGTGGGGGCAGGCTCTCGGCCCCCAATGCCTGCCCATCCCACCCCAGCATCCATCTTCAG
TGCCAGGAGCACAGACGTGTAGGGCCAGAGCCCGTCCAGAGGCCACCAGGAGCTGAGACAGTGCCACCACCAGCACCTCCCACAAGCCCA

>72622_72622_1_RBCK1-ANO9_RBCK1_chr20_400375_ENST00000353660_ANO9_chr11_428826_ENST00000332826_length(amino acids)=687AA_BP=209
MGTATPDGREDQERLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLS
ARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPE
AYQVPASYQPDEEERARLAGEEEALRQYQQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSS
AVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTR
LAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMM
IQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSP
CLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVP

--------------------------------------------------------------
>72622_72622_2_RBCK1-ANO9_RBCK1_chr20_400375_ENST00000356286_ANO9_chr11_428826_ENST00000332826_length(transcript)=3003nt_BP=1461nt
CGCCTGCGGCCCAGCTCCTTCCCGCGGCTCTGCGATGCGGCCCGCAGGGTGACCCGGGCGGGAGTCCGGGGACCCGCGATCAGCCCCGGA
GGACGGGGTGGGGTCGCCCCAAACAGGAGCGCCGGGACCGCTGGGACCCCGCACTCGGCGTCCGCCGCCGCCGGGTAGCCGGGCAGTGGA
GGTCCCGGATGAGGCGACAATTTTTCCGGCCCCCCCTCCCAGTCCCGCCCCACTTCCGGGGCCGCCACTTTCACTTTCTCTTCCGCCGAA
GCCGCTCCCCTTGCGAAGAACTGGGGCCTCCCGGGAGGAGAGAGGGCTTTGCCTTGAAACCCGGGACGCCAGGGGCGCTCCCGCAAGTGG
GGGTCCTCCGGGACTTGGAACGCCCCGGCTGGGTGGTGTCCGGGCGTCCTTTCCCCGCTTCTTCCCACCTCGGCTGGTCCCGTTTCCTCC
TGCGCCCAGTGCGGACCTGTCTCGGCGCCCGCTGCCCTCTCACCGCCCCACGCAGGATCCCGGCCTGGTCACCGGGCAGTGTGATGCTTC
CCGACTGCCGCGGGGACAGCGAGGCACACACAGGGCTTGGGCCGCGCCGGAGGCCACACGGCCTGGCTGAGTTGCTCCTGGTCTCCCGCC
TCTCCCAGGCGACCCGGAGGTAGCATTTCCCAGGAGGCACGGTCCCCCCCAGGGGGATGGGCACAGCCACGCCAGATGGACGAGAAGACC
AAGAAAGCAGAGGAAATGGCCCTGAGCCTCACCCGAGCAGTGGCGGGCGGGGATGAACAGGTGGCAATGAAGTGTGCCATCTGGCTGGCA
GAGCAACGGGTGCCCCTGAGTGTGCAACTGAAGCCTGAGGTCTCCCCAACGCAGGACATCAGGCTGTGGGTGAGCGTGGAGGATGCTCAG
ATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTTTTTCTGGACTATGGCTTCCCA
CCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGT
GCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGATCTG
GGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAG
CCAGATGCAGTGCCTGAGCCCCCACCGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATG
TGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAG
GCGCTGCGTCAGTACCAGCAGGAGGAAATGGCACTTCAGCTCATTAACTGCCCCGACTACAAGCTCCGGCCATACCAGCACTCCTACCTA
CGCAGCACCGTCATCCTCGTCCTGACCCTGCTCATGATCTGCCTCATGATCGGCATGGCCCACGTCCTGGTGGTCTACCGCGTCCTGGCC
TCCGCGCTCTTCAGCAGCTCGGCCGTGCCCTTCCTGGAGGAGCAGGTGACCACGGCCGTGGTGGTGACCGGGGCTCTGGTGCACTATGTG
ACCATCATCATCATGACCAAGATCAACAGGTGCGTGGCCCTGAAGCTTTGTGACTTCGAGATGCCCAGGACCTTCTCGGAGCGAGAGAGC
AGGTTCACCATCCGCTTCTTCACACTGCAGTTCTTCACCCATTTCTCGTCTCTCATCTACATCGCCTTCATCCTGGGCAGGATCAACGGC
CACCCCGGGAAGTCCACGCGCCTGGCGGGCTTGTGGAAGCTGGAAGAGTGCCACGCCAGCGGCTGCATGATGGACCTCTTCGTGCAGATG
GCCATCATCATGGGCCTGAAGCAGACGCTCAGCAACTGCGTCGAGTACCTGGTCCCGTGGGTGACCCACAAGTGCCGCTCTCTGCGGGCC
TCCGAGTCCGGGCACCTGCCCCGGGACCCCGAGCTCAGGGACTGGCGGCGCAACTACCTTCTGAACCCGGTCAACACCTTCAGCCTGTTC
GACGAGTTCATGGAGATGATGATCCAGTACGGCTTCACCACCATCTTCGTGGCCGCCTTCCCGCTGGCGCCGCTGCTCGCGCTCTTCAGC
AACCTCGTGGAGATCCGCCTGGACGCCATCAAGATGGTCTGGTTGCAGCGGCGCCTGGTGCCGCGCAAGGCCAAGGACATCGGGACCTGG
CTGCAGGTGCTGGAGACCATCGGTGTGCTGGCGGTCATTGCCAATGGGATGGTCATTGCCTTCACATCTGAGTTCATCCCCCGAGTGGTC
TACAAGTACCGCTATAGCCCATGCCTGAAAGAAGGCAACTCTACTGTCGACTGCCTCAAGGGCTACGTCAACCACAGCCTGTCCGTCTTC
CACACCAAGGACTTCCAGGACCCTGATGGGATTGAGGGCTCAGAAAACGTGACTCTGTGCAGATACAGGGACTACCGCAATCCCCCCGAT
TACAACTTCTCCGAGCAGTTCTGGTTCCTCCTGGCCATCCGCCTGGCCTTCGTCATCCTCTTTGAGCACGTGGCCTTGTGCATCAAGCTC
ATCGCCGCCTGGTTCGTGCCCGACATCCCTCAGTCGGTGAAGAACAAGGTTCTGGAGGTGAAGTACCAGAGGCTGCGTGAGAAGATGTGG
CATGGAAGGCAGAGGCTGGGTGGGGTGGGGGCAGGCTCTCGGCCCCCAATGCCTGCCCATCCCACCCCAGCATCCATCTTCAGTGCCAGG
AGCACAGACGTGTAGGGCCAGAGCCCGTCCAGAGGCCACCAGGAGCTGAGACAGTGCCACCACCAGCACCTCCCACAAGCCCACCGCTGT

>72622_72622_2_RBCK1-ANO9_RBCK1_chr20_400375_ENST00000356286_ANO9_chr11_428826_ENST00000332826_length(amino acids)=772AA_BP=294
MGRAGGHTAWLSCSWSPASPRRPGGSISQEARSPPGGWAQPRQMDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKP
EVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTS
LNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVP
ASYQPDEEERARLAGEEEALRQYQQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSSAVPFL
EEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTRLAGLW
KLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMMIQYGF
TTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSPCLKEG
NSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQS

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Fusion Gene PPI Analysis for RBCK1-ANO9

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	RBCK1	chr20:400375	chr11:428826	ENST00000356286	+	6	12	1_220	252.0	511.0	IRF3
Hgene	RBCK1	chr20:400375	chr11:428826	ENST00000353660	+	5	11	69_131	210.0	469.0	RNF31
Hgene	RBCK1	chr20:400375	chr11:428826	ENST00000356286	+	6	12	69_131	252.0	511.0	RNF31

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	RBCK1	chr20:400375	chr11:428826	ENST00000353660	+	5	11	1_220	210.0	469.0	IRF3
Hgene	RBCK1	chr20:400375	chr11:428826	ENST00000353660	+	5	11	1_270	210.0	469.0	TAB2
Hgene	RBCK1	chr20:400375	chr11:428826	ENST00000356286	+	6	12	1_270	252.0	511.0	TAB2

- 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 RBCK1-ANO9

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 RBCK1-ANO9

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source