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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30640

FusionGeneSummary for RBCK1_ANO9

check button Fusion gene summary
Fusion gene informationFusion gene name: RBCK1_ANO9
Fusion gene ID: 30640
HgeneTgene
Gene symbol

RBCK1

ANO9

Gene ID

10616

338440

Gene nameRANBP2-type and C3HC4-type zinc finger containing 1anoctamin 9
SynonymsC20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4PIG5|TMEM16J|TP53I5
Cytomap

20p13

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionranBP-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 proanoctamin-9p53-induced gene 5 proteintransmembrane protein 16Jtumor protein p53-inducible protein 5
Modification date2018052720180519
UniProtAcc

Q9BYM8

A1A5B4

Ensembl transtripts involved in fusion geneENST00000356286, ENST00000353660, 
ENST00000382181, ENST00000475269, 
ENST00000400245, ENST00000400247, 
ENST00000332826, 
Fusion gene scores* DoF score7 X 4 X 6=1683 X 3 X 3=27
# samples 63
** MAII scorelog2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RBCK1 [Title/Abstract] AND ANO9 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneRBCK1

GO:0000209

protein polyubiquitination

12629548|17006537

HgeneRBCK1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

17449468

HgeneRBCK1

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

19136968|21455173

HgeneRBCK1

GO:0050852

T cell receptor signaling pathway

20005846

HgeneRBCK1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19136968

HgeneRBCK1

GO:0097039

protein linear polyubiquitination

21455173|21455180|21455181|23453807

TgeneANO9

GO:1902939

negative regulation of intracellular calcium activated chloride channel activity

22946059


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
TCGALDREADTCGA-F5-6465-01ARBCK1chr20

400375

+ANO9chr11

428826

-
* 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-frameENST00000356286ENST00000332826RBCK1chr20

400375

+ANO9chr11

428826

-
In-frameENST00000353660ENST00000332826RBCK1chr20

400375

+ANO9chr11

428826

-
Frame-shiftENST00000382181ENST00000332826RBCK1chr20

400375

+ANO9chr11

428826

-
intron-3CDSENST00000475269ENST00000332826RBCK1chr20

400375

+ANO9chr11

428826

-
intron-3CDSENST00000400245ENST00000332826RBCK1chr20

400375

+ANO9chr11

428826

-
intron-3CDSENST00000400247ENST00000332826RBCK1chr20

400375

+ANO9chr11

428826

-

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FusionProtFeatures for RBCK1_ANO9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBCK1

Q9BYM8

ANO9

A1A5B4

E3 ubiquitin-protein ligase, which accepts ubiquitinfrom specific E2 ubiquitin-conjugating enzymes, such asUBE2L3/UBCM4, and then transfers it to substrates. Functions as anE3 ligase for oxidized IREB2 and both heme and oxygen arenecessary for IREB2 ubiquitination. Promotes ubiquitination ofTAB2 and IRF3 and their degradation by the proteasome. Componentof the LUBAC complex which conjugates linear ('Met-1'-linked)polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBACconjugates linear polyubiquitin to IKBKG and RIPK1 and is involvedin activation of the canonical NF-kappa-B and the JNK signalingpathways. Linear ubiquitination mediated by the LUBAC complexinterferes with TNF-induced cell death and thereby preventsinflammation. LUBAC is proposed to be recruited to the TNF-R1signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linearpolyubiquitin to IKBKG and possibly other components contributingto the stability of the complex. Together with FAM105B/otulin, theLUBAC complex regulates the canonical Wnt signaling duringangiogenesis. Binds polyubiquitin of different linkage types.{ECO:0000269|PubMed:12629548, ECO:0000269|PubMed:17006537,ECO:0000269|PubMed:17449468, ECO:0000269|PubMed:18711448,ECO:0000269|PubMed:19136968, ECO:0000269|PubMed:20005846,ECO:0000269|PubMed:21455173, ECO:0000269|PubMed:21455180,ECO:0000269|PubMed:21455181}. Has calcium-dependent phospholipid scramblase activity;scrambles phosphatidylserine, phosphatidylcholine andgalactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit theactivity of ANO1. {ECO:0000250|UniProtKB:P86044,ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}.

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
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+51155_119210469DomainUbiquitin-like
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+61255_119252511DomainUbiquitin-like
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+612193_222252511Zinc fingerRanBP2-type
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023353_373305783Topological domainExtracellular
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023395_423305783Topological domainCytoplasmic
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023445_552305783Topological domainExtracellular
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023574_604305783Topological domainCytoplasmic
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023626_703305783Topological domainExtracellular
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023725_782305783Topological domainCytoplasmic
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023332_352305783TransmembraneHelical
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023374_394305783TransmembraneHelical
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023424_444305783TransmembraneHelical
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023553_573305783TransmembraneHelical
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023605_625305783TransmembraneHelical
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023704_724305783TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+511233_261210469Coiled coilOntology_term=ECO:0000255
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+612233_261252511Coiled coilOntology_term=ECO:0000255
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+511193_222210469Zinc fingerRanBP2-type
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+511282_327210469Zinc fingerRING-type 1
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+511362_411210469Zinc fingerNote=IBR-type
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+511437_463210469Zinc fingerRING-type 2
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+612282_327252511Zinc fingerRING-type 1
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+612362_411252511Zinc fingerNote=IBR-type
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+612437_463252511Zinc fingerRING-type 2
TgeneANO9chr20:400375chr11:428826ENST00000332826-10231_198305783Topological domainCytoplasmic
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023220_264305783Topological domainExtracellular
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023286_331305783Topological domainCytoplasmic
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023199_219305783TransmembraneHelical
TgeneANO9chr20:400375chr11:428826ENST00000332826-1023265_285305783TransmembraneHelical


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FusionGeneSequence for RBCK1_ANO9


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_RBCK1_ENST00000356286_chr20_400375_+_ANO9_ENST00000332826_chr11_428826_-_730aa
MDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFL
DYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQE
PGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVPASYQPDEEERARLAGEEEALRQYQQEEMALQLINCPDYKLRPY
QHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSSAVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTF
SERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTRLAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKC
RSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAK
DIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSPCLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDY
RNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQSVKNKVLEVKYQRLREKMWHGRQRLGGVGAGSRPPMPAHPTPAS

>In-frame_RBCK1_ENST00000353660_chr20_400375_+_ANO9_ENST00000332826_chr11_428826_-_688aa
MGTATPDGREDQERLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLS
ARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPE
AYQVPASYQPDEEERARLAGEEEALRQYQQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSS
AVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTR
LAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMM
IQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSP
CLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RBCK1_ENST00000356286_chr20_400375_+_ANO9_ENST00000332826_chr11_428826_-_2190nt
ATGGACGAGAAGACCAAGAAAGCAGAGGAAATGGCCCTGAGCCTCACCCGAGCAGTGGCGGGCGGGGATGAACAGGTGGCAATGAAGTGT
GCCATCTGGCTGGCAGAGCAACGGGTGCCCCTGAGTGTGCAACTGAAGCCTGAGGTCTCCCCAACGCAGGACATCAGGCTGTGGGTGAGC
GTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTTTTTCTG
GACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGG
CAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGG
ATGCTGGAAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAA
CCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGG
CCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTG
GCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAGGAGGAAATGGCACTTCAGCTCATTAACTGCCCCGACTACAAGCTCCGGCCATAC
CAGCACTCCTACCTACGCAGCACCGTCATCCTCGTCCTGACCCTGCTCATGATCTGCCTCATGATCGGCATGGCCCACGTCCTGGTGGTC
TACCGCGTCCTGGCCTCCGCGCTCTTCAGCAGCTCGGCCGTGCCCTTCCTGGAGGAGCAGGTGACCACGGCCGTGGTGGTGACCGGGGCT
CTGGTGCACTATGTGACCATCATCATCATGACCAAGATCAACAGGTGCGTGGCCCTGAAGCTTTGTGACTTCGAGATGCCCAGGACCTTC
TCGGAGCGAGAGAGCAGGTTCACCATCCGCTTCTTCACACTGCAGTTCTTCACCCATTTCTCGTCTCTCATCTACATCGCCTTCATCCTG
GGCAGGATCAACGGCCACCCCGGGAAGTCCACGCGCCTGGCGGGCTTGTGGAAGCTGGAAGAGTGCCACGCCAGCGGCTGCATGATGGAC
CTCTTCGTGCAGATGGCCATCATCATGGGCCTGAAGCAGACGCTCAGCAACTGCGTCGAGTACCTGGTCCCGTGGGTGACCCACAAGTGC
CGCTCTCTGCGGGCCTCCGAGTCCGGGCACCTGCCCCGGGACCCCGAGCTCAGGGACTGGCGGCGCAACTACCTTCTGAACCCGGTCAAC
ACCTTCAGCCTGTTCGACGAGTTCATGGAGATGATGATCCAGTACGGCTTCACCACCATCTTCGTGGCCGCCTTCCCGCTGGCGCCGCTG
CTCGCGCTCTTCAGCAACCTCGTGGAGATCCGCCTGGACGCCATCAAGATGGTCTGGTTGCAGCGGCGCCTGGTGCCGCGCAAGGCCAAG
GACATCGGGACCTGGCTGCAGGTGCTGGAGACCATCGGTGTGCTGGCGGTCATTGCCAATGGGATGGTCATTGCCTTCACATCTGAGTTC
ATCCCCCGAGTGGTCTACAAGTACCGCTATAGCCCATGCCTGAAAGAAGGCAACTCTACTGTCGACTGCCTCAAGGGCTACGTCAACCAC
AGCCTGTCCGTCTTCCACACCAAGGACTTCCAGGACCCTGATGGGATTGAGGGCTCAGAAAACGTGACTCTGTGCAGATACAGGGACTAC
CGCAATCCCCCCGATTACAACTTCTCCGAGCAGTTCTGGTTCCTCCTGGCCATCCGCCTGGCCTTCGTCATCCTCTTTGAGCACGTGGCC
TTGTGCATCAAGCTCATCGCCGCCTGGTTCGTGCCCGACATCCCTCAGTCGGTGAAGAACAAGGTTCTGGAGGTGAAGTACCAGAGGCTG
CGTGAGAAGATGTGGCATGGAAGGCAGAGGCTGGGTGGGGTGGGGGCAGGCTCTCGGCCCCCAATGCCTGCCCATCCCACCCCAGCATCC

>In-frame_RBCK1_ENST00000353660_chr20_400375_+_ANO9_ENST00000332826_chr11_428826_-_2064nt
ATGGGCACAGCCACGCCAGATGGACGAGAAGACCAAGAAAGGCTGTGGGTGAGCGTGGAGGATGCTCAGATGCACACCGTCACCATCTGG
CTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTG
ATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCA
GCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGATCTGGGCTTCAAGGACCTCACGCTG
CAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCC
CCACCGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAG
GCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAG
GAGGAAATGGCACTTCAGCTCATTAACTGCCCCGACTACAAGCTCCGGCCATACCAGCACTCCTACCTACGCAGCACCGTCATCCTCGTC
CTGACCCTGCTCATGATCTGCCTCATGATCGGCATGGCCCACGTCCTGGTGGTCTACCGCGTCCTGGCCTCCGCGCTCTTCAGCAGCTCG
GCCGTGCCCTTCCTGGAGGAGCAGGTGACCACGGCCGTGGTGGTGACCGGGGCTCTGGTGCACTATGTGACCATCATCATCATGACCAAG
ATCAACAGGTGCGTGGCCCTGAAGCTTTGTGACTTCGAGATGCCCAGGACCTTCTCGGAGCGAGAGAGCAGGTTCACCATCCGCTTCTTC
ACACTGCAGTTCTTCACCCATTTCTCGTCTCTCATCTACATCGCCTTCATCCTGGGCAGGATCAACGGCCACCCCGGGAAGTCCACGCGC
CTGGCGGGCTTGTGGAAGCTGGAAGAGTGCCACGCCAGCGGCTGCATGATGGACCTCTTCGTGCAGATGGCCATCATCATGGGCCTGAAG
CAGACGCTCAGCAACTGCGTCGAGTACCTGGTCCCGTGGGTGACCCACAAGTGCCGCTCTCTGCGGGCCTCCGAGTCCGGGCACCTGCCC
CGGGACCCCGAGCTCAGGGACTGGCGGCGCAACTACCTTCTGAACCCGGTCAACACCTTCAGCCTGTTCGACGAGTTCATGGAGATGATG
ATCCAGTACGGCTTCACCACCATCTTCGTGGCCGCCTTCCCGCTGGCGCCGCTGCTCGCGCTCTTCAGCAACCTCGTGGAGATCCGCCTG
GACGCCATCAAGATGGTCTGGTTGCAGCGGCGCCTGGTGCCGCGCAAGGCCAAGGACATCGGGACCTGGCTGCAGGTGCTGGAGACCATC
GGTGTGCTGGCGGTCATTGCCAATGGGATGGTCATTGCCTTCACATCTGAGTTCATCCCCCGAGTGGTCTACAAGTACCGCTATAGCCCA
TGCCTGAAAGAAGGCAACTCTACTGTCGACTGCCTCAAGGGCTACGTCAACCACAGCCTGTCCGTCTTCCACACCAAGGACTTCCAGGAC
CCTGATGGGATTGAGGGCTCAGAAAACGTGACTCTGTGCAGATACAGGGACTACCGCAATCCCCCCGATTACAACTTCTCCGAGCAGTTC
TGGTTCCTCCTGGCCATCCGCCTGGCCTTCGTCATCCTCTTTGAGCACGTGGCCTTGTGCATCAAGCTCATCGCCGCCTGGTTCGTGCCC
GACATCCCTCAGTCGGTGAAGAACAAGGTTCTGGAGGTGAAGTACCAGAGGCTGCGTGAGAAGATGTGGCATGGAAGGCAGAGGCTGGGT


* Fusion transcript sequences (Full-length transcript).
>In-frame_RBCK1_ENST00000356286_chr20_400375_+_ANO9_ENST00000332826_chr11_428826_-_3003nt
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

>In-frame_RBCK1_ENST00000353660_chr20_400375_+_ANO9_ENST00000332826_chr11_428826_-_2740nt
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


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FusionGenePPI for RBCK1_ANO9


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
RBCK1UBC, RBCK1, PRKCB, BACH1, UBE2D3, IKBKG, UBE2G1, UBE2L3, UBE2L6, UBE2N, UBE2U, UBE2D4, UBE2S, UBE2K, IREB2, TNF, RNF31, TRAF1, TRIM25, DDX58, NEDD4, NOD2, PSMD4, TAB2, TAB3, MAP3K7, TRAF6, RIPK1, NR2C2, PML, ESR1, SHARPIN, TNFAIP3, APP, NR1I2, UCHL5, USP2, USP7, USP15, USP21, USP32, USP49, PAN2, OTUB2, OTUD6A, BIRC3, OTULIN, MKRN2, TRIML1, UHRF2, PCGF2, RNF181, TRIM65, TRIM21, FKBPL, HSP90AA1, ARNT2, PARK2, PRKCA, NAA10, NDUFAF3, TSSK3, SYCE1, UBE2D1, UBE2D2, MAP3K1, LTBR, LDLRAD4, MALT1, SMURF1, PDLIM7, TLR3, TNFRSF1A, LMO2, RABGEF1, ARPC5ANO9TENC1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+6121_220252511IRF3
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+51169_131210469RNF31
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+61269_131252511RNF31


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+5111_220210469IRF3
HgeneRBCK1chr20:400375chr11:428826ENST00000353660+5111_270210469TAB2
HgeneRBCK1chr20:400375chr11:428826ENST00000356286+6121_270252511TAB2


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


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RelatedDrugs for RBCK1_ANO9


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 RBCK1_ANO9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBCK1C0018800Cardiomegaly1CTD_human
HgeneRBCK1C4014605POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY1ORPHANET;UNIPROT