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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: 33933

FusionGeneSummary for SIX1_CYB5R2

check button Fusion gene summary
Fusion gene informationFusion gene name: SIX1_CYB5R2
Fusion gene ID: 33933
HgeneTgene
Gene symbol

SIX1

CYB5R2

Gene ID

6495

51700

Gene nameSIX homeobox 1cytochrome b5 reductase 2
SynonymsBOS3|DFNA23|TIP39B5R.2
Cytomap

14q23.1

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein SIX1sine oculis homeobox homolog 1NADH-cytochrome b5 reductase 2cytochrome b5 reductase b5R.2
Modification date2018052720180523
UniProtAcc

Q15475

Q6BCY4

Ensembl transtripts involved in fusion geneENST00000247182, ENST00000554986, 
ENST00000524790, ENST00000299498, 
ENST00000528585, ENST00000533558, 
ENST00000299497, 
Fusion gene scores* DoF score2 X 3 X 2=121 X 1 X 1=1
# samples 31
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: SIX1 [Title/Abstract] AND CYB5R2 [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
HgeneSIX1

GO:0034504

protein localization to nucleus

19497856

HgeneSIX1

GO:0045944

positive regulation of transcription by RNA polymerase II

15141091

TgeneCYB5R2

GO:0055114

oxidation-reduction process

10611283


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
TCGALDBRCATCGA-A2-A3XW-01ASIX1chr14

61115348

-CYB5R2chr11

7689792

-
* 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
Frame-shitENST00000247182ENST00000524790SIX1chr14

61115348

-CYB5R2chr11

7689792

-
Frame-shitENST00000247182ENST00000299498SIX1chr14

61115348

-CYB5R2chr11

7689792

-
5CDS-5UTRENST00000247182ENST00000528585SIX1chr14

61115348

-CYB5R2chr11

7689792

-
5CDS-5UTRENST00000247182ENST00000533558SIX1chr14

61115348

-CYB5R2chr11

7689792

-
5CDS-5UTRENST00000247182ENST00000299497SIX1chr14

61115348

-CYB5R2chr11

7689792

-
intron-3CDSENST00000554986ENST00000524790SIX1chr14

61115348

-CYB5R2chr11

7689792

-
intron-3CDSENST00000554986ENST00000299498SIX1chr14

61115348

-CYB5R2chr11

7689792

-
intron-5UTRENST00000554986ENST00000528585SIX1chr14

61115348

-CYB5R2chr11

7689792

-
intron-5UTRENST00000554986ENST00000533558SIX1chr14

61115348

-CYB5R2chr11

7689792

-
intron-5UTRENST00000554986ENST00000299497SIX1chr14

61115348

-CYB5R2chr11

7689792

-

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FusionProtFeatures for SIX1_CYB5R2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIX1

Q15475

CYB5R2

Q6BCY4

Transcription factor that is involved in the regulationof cell proliferation, apoptosis and embryonic development. Playsan important role in the development of several organs, includingkidney, muscle and inner ear. Depending on context, functions astranscriptional repressor or activator. Lacks an activationdomain, and requires interaction with EYA family members fortranscription activation. Mediates nuclear translocation of EYA1and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in theMEF3 element in the MYOG promoter. Regulates the expression ofnumerous genes, including MYC, CCND1 and EZR. Acts as activator ofthe IGFBP5 promoter, probably coactivated by EYA2. Repression ofprecursor cell proliferation in myoblasts is switched toactivation through recruitment of EYA3 to the SIX1-DACH1 complex.During myogenesis, seems to act together with EYA2 and DACH2 (Bysimilarity). Regulates the expression of CCNA1. {ECO:0000250,ECO:0000269|PubMed:15123840, ECO:0000269|PubMed:15141091,ECO:0000269|PubMed:19497856, ECO:0000269|PubMed:23435380}. NADH-cytochrome b5 reductases are involved indesaturation and elongation of fatty acids, cholesterolbiosynthesis, drug metabolism, and, in erythrocyte, methemoglobinreduction (By similarity). Responsible for NADH-dependentlucigenin chemiluminescence in spermatozoa by reducing bothlucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).{ECO:0000250, ECO:0000269|PubMed:15858218}.

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 SIX1_CYB5R2


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SIX1_CYB5R2


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
SIX1MDFI, CCDC85B, EYA1, EYA2, SKI, FZR1, VTN, AES, EYA4, MYH3, MYH7, MYH4, FOXE1, FOXL2, ERCC6L, P4HA3CYB5R2TRIP13, COIL, FFAR2, GOLGA2, PSMC6, TRAF1, TRAF2, CDC23


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 SIX1_CYB5R2


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 SIX1_CYB5R2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSIX1C1842124BRANCHIOOTIC SYNDROME 3 (disorder)4CTD_human;UNIPROT
HgeneSIX1C0000768Congenital Abnormality1CTD_human
HgeneSIX1C0376634Craniofacial Abnormalities1CTD_human