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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: 6401

FusionGeneSummary for CDC6_MSL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC6_MSL1
Fusion gene ID: 6401
HgeneTgene
Gene symbol

CDC6

MSL1

Gene ID

990

339287

Gene namecell division cycle 6male specific lethal 1 homolog
SynonymsCDC18L|HsCDC18|HsCDC6|MGORS5MSL-1|hMSL1
Cytomap

17q21.2

17q21.1

Type of geneprotein-codingprotein-coding
Descriptioncell division control protein 6 homologCDC6 cell division cycle 6 homologCDC6-related proteincdc18-related proteincell division cycle 6 homologp62(cdc6)male-specific lethal 1 homologMSL1-like 1male-specific lethal 1-like 1male-specific lethal-1 homolog 1
Modification date2018052320180523
UniProtAcc

Q99741

Q68DK7

Ensembl transtripts involved in fusion geneENST00000209728, ENST00000398532, 
ENST00000577454, ENST00000578648, 
ENST00000579565, 
Fusion gene scores* DoF score8 X 8 X 5=3207 X 4 X 4=112
# samples 77
** MAII scorelog2(7/320*10)=-2.1926450779424
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/112*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC6 [Title/Abstract] AND MSL1 [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
HgeneCDC6

GO:0051984

positive regulation of chromosome segregation

21041660

TgeneMSL1

GO:0043984

histone H4-K16 acetylation

20018852


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-AR-A254-01ACDC6chr17

38450308

+MSL1chr17

38282436

+
* 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-shiftENST00000209728ENST00000398532CDC6chr17

38450308

+MSL1chr17

38282436

+
Frame-shiftENST00000209728ENST00000577454CDC6chr17

38450308

+MSL1chr17

38282436

+
Frame-shiftENST00000209728ENST00000578648CDC6chr17

38450308

+MSL1chr17

38282436

+
5CDS-5UTRENST00000209728ENST00000579565CDC6chr17

38450308

+MSL1chr17

38282436

+

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FusionProtFeatures for CDC6_MSL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC6

Q99741

MSL1

Q68DK7

Involved in the initiation of DNA replication. Alsoparticipates in checkpoint controls that ensure DNA replication iscompleted before mitosis is initiated. Component of histone acetyltransferase complexresponsible for the majority of histone H4 acetylation at 'Lys-16'(H4K16ac) which is implicated in the formation of higher-orderchromatin structure. Greatly enhances MSL2 E3 ubiquitin ligaseactivity, promoting monoubiquitination of histone H2B at 'Lys-34'(H2BK34Ub). This modification in turn stimulates histone H3methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leadsto gene activation, including that of HOXA9 and MEIS1. In the MSLcomplex, acts as a scaffold to tether MSL3 and KAT8 together forenzymatic activity regulation. {ECO:0000269|PubMed:16227571,ECO:0000269|PubMed:21726816, ECO:0000269|PubMed:22547026}.

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 CDC6_MSL1


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 CDC6_MSL1


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
CDC6PPP2R3B, ORC2, ORC1, MCM7, PSKH1, CCNA2, MYC, CDK2, PCNA, MCM3, AKAP8L, PPP2R3A, CDT1, MCM8, HUWE1, TERF1, ATR, ATM, ATRIP, BMI1, KAT7, CCL2, FZR1, CDC20, CDK4, CDK6, MCM10, MCM2, ORC5, ORC3, ORC6, CDKN2A, CDKN1A, CCNE1, CCNB1, CDK1, B3GALNT1, UBE2K, CDC14A, UBR1, TSPAN3, COLEC11, TGFBR2, ISLR, PON2, POLA1, NOP56, CCNF, LAMP2, IL20RA, TNFRSF1A, FAM131B, PROZ, MANSC1, PCDHB11, TNFRSF10A, LAMP3, BPNT1, C1orf85, TNFRSF8, MAGEA10, PCDHGA5, CHEK2, CHEK1, TOP1, TOP2A, TOP3A, WEE1, HEY1MSL1KAT8, MSL2, MSL3, CRKL, FCHSD2, MMS19, SOX2, HIST2H2BE, UBE2D3, RNF40, RNF20, PAF1, CDK9, FAM96B, MOV10, NXF1, NUPR1, TP53BP1, MORF4L1, RAN, KPNB1, SNW1, MRGBP, PPM1G, HORMAD1, SMARCC1, MSL3P1, PBK, AHCYL2, HSPB1, HIST1H2BG, HIST1H3A, SLC33A1, IBTK, CNTROB, GMNN


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 CDC6_MSL1


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 CDC6_MSL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC6C0032460Polycystic Ovary Syndrome1CTD_human
HgeneCDC6C1868684EAR, PATELLA, SHORT STATURE SYNDROME1CTD_human;ORPHANET
HgeneCDC6C3151126MEIER-GORLIN SYNDROME 51UNIPROT