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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: 43322

FusionGeneSummary for ZNF433_RFX1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF433_RFX1
Fusion gene ID: 43322
HgeneTgene
Gene symbol

ZNF433

RFX1

Gene ID

163059

5989

Gene namezinc finger protein 433regulatory factor X1
Synonyms-EFC|RFX
Cytomap

19p13.2

19p13.12

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 433MHC class II regulatory factor RFX1MHC class II regulatory factor RFXenhancer factor Cregulatory factor X, 1 (influences HLA class II expression)trans-acting regulatory factor 1transcription factor RFX1
Modification date2018051920180523
UniProtAcc

Q8N7K0

P22670

Ensembl transtripts involved in fusion geneENST00000419886, ENST00000344980, 
ENST00000254325, ENST00000586913, 
Fusion gene scores* DoF score4 X 3 X 4=485 X 4 X 4=80
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF433 [Title/Abstract] AND RFX1 [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

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
TCGARVLGGTCGA-TM-A7CF-01AZNF433chr19

12146352

-RFX1chr19

14091501

-
* 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
5UTR-3CDSENST00000419886ENST00000254325ZNF433chr19

12146352

-RFX1chr19

14091501

-
5UTR-intronENST00000419886ENST00000586913ZNF433chr19

12146352

-RFX1chr19

14091501

-
In-frameENST00000344980ENST00000254325ZNF433chr19

12146352

-RFX1chr19

14091501

-
5CDS-intronENST00000344980ENST00000586913ZNF433chr19

12146352

-RFX1chr19

14091501

-

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FusionProtFeatures for ZNF433_RFX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF433

Q8N7K0

RFX1

P22670

May be involved in transcriptional regulation. Regulatory factor essential for MHC class II genesexpression. Binds to the X boxes of MHC class II genes. Also bindsto an inverted repeat (ENH1) required for hepatitis B virus genesexpression and to the most upstream element (alpha) of the RPL30promoter.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ZNF433_RFX1


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_ZNF433_ENST00000344980_chr19_12146352_-_RFX1_ENST00000254325_chr19_14091501_-_774aa
MQSPVQANSSSSKTAGAPTGTVPQQLQVHGVQQSVPVTQERSVVQATPQAPKPGPVQPLTVQGLQPVHVAQEVQQLQQVPVPHVYSSQVQ
YVEGGDASYTASAIRSSTYSYPETPLYTQTASTSYYEAAGTATQVSTPATSQAVASSGSMPMYVSGSQVVASSTSTGAGASNSSGGGGSG
GGGGGGGGGGGGGSGSTGGGGSGAGTYVIQGGYMLGSASQSYSHTTRASPATVQWLLDNYETAEGVSLPRSTLYCHYLLHCQEQKLEPVN
AASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGLRIKASSPLLRLMEDQQHMAMRGQPFSQKQRLKPIQKMEGMTNGVAVGQQPSTGLSDI
SAQVQQYQQFLDASRSLPDFTELDLQGKVLPEGVGPGDIKAFQVLYREHCEAIVDVMVNLQFTLVETLWKTFWRYNLSQPSEAPPLAVHD
EAEKRLPKAILVLLSKFEPVLQWTKHCDNVLYQGLVEILIPDVLRPIPSALTQAIRNFAKSLESWLTHAMVNIPEEMLRVKVAAAGAFAQ
TLRRYTSLNHLAQAARAVLQNTAQINQMLSDLNRVDFANVQEQASWVCRCEDRVVQRLEQDFKVTLQQQNSLEQWAAWLDGVVSQVLKPY
QGSAGFPKAAKLFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMYYLIEHRVAQAKGETPIAVMGEFANLATSLNPLDPDKDEE


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ZNF433_ENST00000344980_chr19_12146352_-_RFX1_ENST00000254325_chr19_14091501_-_2322nt
ATGCAGTCGCCGGTGCAGGCCAACAGCTCTTCCAGCAAGACAGCCGGGGCCCCCACGGGCACAGTGCCACAGCAGCTGCAGGTCCACGGC
GTCCAGCAGAGTGTCCCCGTCACCCAAGAGAGATCTGTGGTCCAGGCCACTCCACAAGCGCCCAAACCCGGCCCGGTGCAGCCGCTGACC
GTGCAGGGCCTCCAGCCAGTCCACGTGGCTCAAGAGGTGCAGCAGCTCCAGCAGGTGCCCGTCCCACACGTGTACTCCAGCCAGGTGCAG
TATGTGGAGGGCGGCGATGCCAGCTACACGGCCAGTGCCATCCGTTCCAGCACCTACTCCTATCCCGAGACGCCGCTGTACACGCAGACG
GCAAGCACCAGCTACTACGAGGCCGCAGGCACGGCCACCCAGGTCAGCACCCCCGCCACCTCCCAGGCGGTGGCCAGCAGTGGCTCCATG
CCCATGTACGTGTCCGGCAGCCAGGTCGTCGCCAGCTCCACCAGCACTGGGGCTGGGGCCAGCAACAGCAGCGGAGGTGGTGGCAGTGGT
GGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGGCAGCACCGGAGGCGGCGGCAGCGGAGCAGGCACCTACGTGATCCAA
GGCGGCTACATGCTGGGCAGTGCCAGCCAGTCTTACTCTCACACCACCCGTGCCTCGCCAGCCACGGTCCAGTGGCTCCTGGACAACTAT
GAGACGGCTGAGGGCGTGAGTCTGCCACGGAGCACCCTCTACTGCCACTACTTACTGCACTGCCAGGAGCAGAAGCTGGAGCCCGTCAAC
GCCGCCTCCTTCGGCAAGCTCATCCGCTCCGTCTTCATGGGCCTGCGAACCCGCCGTCTGGGCACCAGGGGCAACTCCAAGTACCACTAC
TATGGCCTGCGCATCAAGGCCAGCTCACCCCTGCTGCGGCTGATGGAGGACCAGCAGCACATGGCCATGCGGGGCCAGCCCTTCTCGCAG
AAGCAGAGGCTCAAGCCCATCCAGAAGATGGAAGGCATGACCAACGGCGTGGCGGTGGGGCAGCAGCCGAGCACGGGGCTGTCGGACATC
AGCGCCCAGGTGCAGCAGTACCAGCAATTTTTGGATGCCTCTCGGAGCCTCCCTGACTTCACAGAGCTCGACCTCCAGGGCAAGGTGCTG
CCTGAGGGCGTCGGGCCCGGGGACATCAAAGCCTTCCAGGTCCTGTACCGGGAACACTGTGAGGCCATTGTCGACGTCATGGTGAACCTG
CAGTTCACCCTGGTGGAGACGCTGTGGAAGACCTTCTGGAGGTACAACCTCAGCCAGCCCAGTGAGGCGCCACCGCTGGCTGTACATGAC
GAGGCCGAGAAGCGACTGCCCAAAGCCATCCTGGTGCTCCTCTCCAAGTTCGAGCCCGTGCTCCAATGGACCAAGCACTGTGACAACGTG
CTGTACCAGGGCCTGGTGGAAATCCTCATTCCCGACGTGCTGCGGCCCATCCCCAGTGCCTTGACCCAAGCGATCCGGAACTTTGCCAAG
AGCCTGGAGAGCTGGCTCACCCACGCCATGGTCAACATCCCCGAGGAGATGCTGCGGGTGAAGGTGGCCGCGGCTGGCGCCTTCGCGCAG
ACACTGCGGCGCTACACGTCGCTCAACCACCTGGCGCAGGCGGCGCGCGCTGTGCTGCAGAACACCGCACAGATCAACCAGATGCTGAGC
GACCTCAACCGCGTGGACTTCGCCAACGTGCAGGAGCAGGCCTCGTGGGTGTGCCGCTGCGAGGACCGCGTGGTGCAGCGGCTGGAGCAG
GACTTCAAGGTGACGCTGCAGCAGCAGAACTCGCTGGAGCAGTGGGCGGCCTGGCTGGACGGCGTGGTGAGCCAGGTGCTCAAGCCCTAC
CAGGGCAGCGCCGGCTTCCCCAAGGCCGCCAAGCTCTTCCTCCTCAAGTGGTCCTTCTACAGCTCCATGGTGATCCGGGACCTGACCCTG
CGCAGCGCCGCCAGCTTCGGTTCCTTCCACCTCATCCGGCTGCTCTACGACGAGTACATGTACTACCTGATCGAGCACCGCGTAGCCCAG
GCCAAGGGCGAGACCCCCATCGCCGTCATGGGCGAGTTCGCCAATCTGGCCACCTCCCTGAACCCCCTGGACCCCGACAAAGACGAGGAG
GAAGAAGAGGAGGAGGAGAGCGAGGACGAGCTGCCGCAGGACATCTCACTGGCGGCTGGCGGCGAGTCACCCGCGCTGGGCCCGGAGACC


* Fusion transcript sequences (Full-length transcript).
>In-frame_ZNF433_ENST00000344980_chr19_12146352_-_RFX1_ENST00000254325_chr19_14091501_-_3650nt
GTCCATCGGGGAGGGCGAAGGCCCTGCTCTCCTCGGTTCCCGGCTCCAGGCGGCGAGCTGAGGTTGGGAGCCTGGCTTTCCCCTCCGAGA
GGGTTCAGGTGCCTCTGCCATAGCTTCTGTCGCCTGTGCTGTGACCCGCACTGGTCGTGGGAGTCACCTGAAAGGCAAGAAATGCAGTCG
CCGGTGCAGGCCAACAGCTCTTCCAGCAAGACAGCCGGGGCCCCCACGGGCACAGTGCCACAGCAGCTGCAGGTCCACGGCGTCCAGCAG
AGTGTCCCCGTCACCCAAGAGAGATCTGTGGTCCAGGCCACTCCACAAGCGCCCAAACCCGGCCCGGTGCAGCCGCTGACCGTGCAGGGC
CTCCAGCCAGTCCACGTGGCTCAAGAGGTGCAGCAGCTCCAGCAGGTGCCCGTCCCACACGTGTACTCCAGCCAGGTGCAGTATGTGGAG
GGCGGCGATGCCAGCTACACGGCCAGTGCCATCCGTTCCAGCACCTACTCCTATCCCGAGACGCCGCTGTACACGCAGACGGCAAGCACC
AGCTACTACGAGGCCGCAGGCACGGCCACCCAGGTCAGCACCCCCGCCACCTCCCAGGCGGTGGCCAGCAGTGGCTCCATGCCCATGTAC
GTGTCCGGCAGCCAGGTCGTCGCCAGCTCCACCAGCACTGGGGCTGGGGCCAGCAACAGCAGCGGAGGTGGTGGCAGTGGTGGTGGCGGC
GGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGGCAGCACCGGAGGCGGCGGCAGCGGAGCAGGCACCTACGTGATCCAAGGCGGCTAC
ATGCTGGGCAGTGCCAGCCAGTCTTACTCTCACACCACCCGTGCCTCGCCAGCCACGGTCCAGTGGCTCCTGGACAACTATGAGACGGCT
GAGGGCGTGAGTCTGCCACGGAGCACCCTCTACTGCCACTACTTACTGCACTGCCAGGAGCAGAAGCTGGAGCCCGTCAACGCCGCCTCC
TTCGGCAAGCTCATCCGCTCCGTCTTCATGGGCCTGCGAACCCGCCGTCTGGGCACCAGGGGCAACTCCAAGTACCACTACTATGGCCTG
CGCATCAAGGCCAGCTCACCCCTGCTGCGGCTGATGGAGGACCAGCAGCACATGGCCATGCGGGGCCAGCCCTTCTCGCAGAAGCAGAGG
CTCAAGCCCATCCAGAAGATGGAAGGCATGACCAACGGCGTGGCGGTGGGGCAGCAGCCGAGCACGGGGCTGTCGGACATCAGCGCCCAG
GTGCAGCAGTACCAGCAATTTTTGGATGCCTCTCGGAGCCTCCCTGACTTCACAGAGCTCGACCTCCAGGGCAAGGTGCTGCCTGAGGGC
GTCGGGCCCGGGGACATCAAAGCCTTCCAGGTCCTGTACCGGGAACACTGTGAGGCCATTGTCGACGTCATGGTGAACCTGCAGTTCACC
CTGGTGGAGACGCTGTGGAAGACCTTCTGGAGGTACAACCTCAGCCAGCCCAGTGAGGCGCCACCGCTGGCTGTACATGACGAGGCCGAG
AAGCGACTGCCCAAAGCCATCCTGGTGCTCCTCTCCAAGTTCGAGCCCGTGCTCCAATGGACCAAGCACTGTGACAACGTGCTGTACCAG
GGCCTGGTGGAAATCCTCATTCCCGACGTGCTGCGGCCCATCCCCAGTGCCTTGACCCAAGCGATCCGGAACTTTGCCAAGAGCCTGGAG
AGCTGGCTCACCCACGCCATGGTCAACATCCCCGAGGAGATGCTGCGGGTGAAGGTGGCCGCGGCTGGCGCCTTCGCGCAGACACTGCGG
CGCTACACGTCGCTCAACCACCTGGCGCAGGCGGCGCGCGCTGTGCTGCAGAACACCGCACAGATCAACCAGATGCTGAGCGACCTCAAC
CGCGTGGACTTCGCCAACGTGCAGGAGCAGGCCTCGTGGGTGTGCCGCTGCGAGGACCGCGTGGTGCAGCGGCTGGAGCAGGACTTCAAG
GTGACGCTGCAGCAGCAGAACTCGCTGGAGCAGTGGGCGGCCTGGCTGGACGGCGTGGTGAGCCAGGTGCTCAAGCCCTACCAGGGCAGC
GCCGGCTTCCCCAAGGCCGCCAAGCTCTTCCTCCTCAAGTGGTCCTTCTACAGCTCCATGGTGATCCGGGACCTGACCCTGCGCAGCGCC
GCCAGCTTCGGTTCCTTCCACCTCATCCGGCTGCTCTACGACGAGTACATGTACTACCTGATCGAGCACCGCGTAGCCCAGGCCAAGGGC
GAGACCCCCATCGCCGTCATGGGCGAGTTCGCCAATCTGGCCACCTCCCTGAACCCCCTGGACCCCGACAAAGACGAGGAGGAAGAAGAG
GAGGAGGAGAGCGAGGACGAGCTGCCGCAGGACATCTCACTGGCGGCTGGCGGCGAGTCACCCGCGCTGGGCCCGGAGACCCTGGAGCCG
CCGGCCAAGCTGGCGCGGACTGACGCGCGCGGCCTCTTCGTGCAGGCGCTGCCCTCCAGCTAAGCCCTTGGCCTCCCCGCCCCACCCGCC
CCCGCCACCCCTCCACGCCAGGGTCCCTCAAAGCTTCTGTGGCTTCGTGGTCACTGCTCCAGCCTCAGCCAGGGCAGGGAGGGGGACTCC
GAGACAGGGAAGACCGGGGCCCTCCTCCCTTATGGGGCCGGCACAATCAGTGGGCTGGGCGGAGCCGCAGCTGCAAACTCTGACACAAAA
GACGTGCCTTAAGGAACCCGCCGCGTGCCCAGGTGCCCCGCGGGGCATCCAGCTCGGCCCCTTGGCCGCCCCCCTCCCAGGCCCCAGCGT
CTTCTCCCCAGCCCCGTCCTCCCACCACCCCAGGGGGCAGGCAGGCAGGCCCCCTCCCGTGCGAAACTGTTAACTTATTCAGCTCGCTGG
CTTTGCACAGCCTGTCCTGGGCCCAGCCCTGAGCCCCGGGCCGGCGCAGGTGGGCGTCACCTGGGGACTCCCCACTGTCAGCAGCAGCCC
CGGGACACCCTACCCCCAGCAACCCCACTGCTTCCCCTTCTTGGTATTAAGTGCAATTAAAGCCGTGGGTGTCGCATCTTCTCCAGCGCT
GGGCCCTCCCTTGCCCCCAAGCTCAAGAAGGGGGCACTGCCCGGCCCGGCTGTGAGGAGGGCGGCAGGGGGCACGGCCTCCAGCTTCCAA
AGAGCAGCGAGCCGCGGAGCCGGGGAGTGCCCACAGACCCCAGCCCCCGCGCCCCCGCCCTCCGCCGCTGGTTTGTAATGGAACCTTTTC
TGTGCCCCTATCTTCCCGGAGACCACGCTTCTCCTCCGTGCCGTGCGACCCCCACCCCATGACTATTGTGCGATTCGTGAGCGCCGCCCG
AGCGGAGTTGGTAACTTGTTGGGTTTTTTTCCAACCATCATGGCCTTATCTGTTCCAGTTTTCTCAGTGTTTTCAGCCTGTGAGATAGAT
GTTTATGGCAAGAAAAAGGAAAAAAAAATGGAAATCTGACCTATTGTATAAAAATCACTATTTTGTGTGCTCCGCGTGCTATAGCTTTTG
GGGCGGCCCTGCCCAGTCCCCGTGCCCACGGGGCTCCCTCTCCCGGTGGTGAAAGTGTCCACACGTGTGGTAGTCTAGTGTGCCGAGCTG


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FusionGenePPI for ZNF433_RFX1


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
ZNF433MDFI, KRTAP10-7, KRTAP10-1, KRTAP10-5, KRTAP10-3, ACTA2, ANKHD1RFX1NFIX, NFIB, NFIC, MAGED1, TADA3, ABL1, HDAC1, NCOA3, NOTCH1, SMAD9, SMAD4, SMAD1, SOX2, FBXL3, FOXJ1, FOXJ2, FOXN2, STUB1, HSPA8, FOXN3, ARRB2, SPATA1, INPP5K, HSPB8, RFX3, XYLT2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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


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RelatedDrugs for ZNF433_RFX1


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 ZNF433_RFX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource