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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: 6487

FusionGeneSummary for CDK12_CDC6

check button Fusion gene summary
Fusion gene informationFusion gene name: CDK12_CDC6
Fusion gene ID: 6487
HgeneTgene
Gene symbol

CDK12

CDC6

Gene ID

51755

990

Gene namecyclin dependent kinase 12cell division cycle 6
SynonymsCRK7|CRKR|CRKRSCDC18L|HsCDC18|HsCDC6|MGORS5
Cytomap

17q12

17q21.2

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 12CDC2-related protein kinase 7Cdc2-related kinase, arginine/serine-richcell division cycle 2-related protein kinase 7cell division protein kinase 12cell division control protein 6 homologCDC6 cell division cycle 6 homologCDC6-related proteincdc18-related proteincell division cycle 6 homologp62(cdc6)
Modification date2018052320180523
UniProtAcc

Q9NYV4

Q99741

Ensembl transtripts involved in fusion geneENST00000430627, ENST00000447079, 
ENST00000559545, 
ENST00000209728, 
Fusion gene scores* DoF score20 X 10 X 12=24008 X 4 X 7=224
# samples 229
** MAII scorelog2(22/2400*10)=-3.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDK12 [Title/Abstract] AND CDC6 [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
HgeneCDK12

GO:0046777

protein autophosphorylation

11683387

TgeneCDC6

GO:0051984

positive regulation of chromosome segregation

21041660


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
TCGALDGBMTCGA-06-0130-01ACDK12chr17

37619370

+CDC6chr17

38445660

+
* 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
5CDS-5UTRENST00000430627ENST00000209728CDK12chr17

37619370

+CDC6chr17

38445660

+
5CDS-5UTRENST00000447079ENST00000209728CDK12chr17

37619370

+CDC6chr17

38445660

+
intron-5UTRENST00000559545ENST00000209728CDK12chr17

37619370

+CDC6chr17

38445660

+

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FusionProtFeatures for CDK12_CDC6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDK12

Q9NYV4

CDC6

Q99741

Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II(POLR2A), thereby acting as a key regulator of transcriptionelongation. Regulates the expression of genes involved in DNArepair and is required for the maintenance of genomic stability.Preferentially phosphorylates 'Ser-5' in CTD repeats that arealready phosphorylated at 'Ser-7', but can also phosphorylate'Ser-2'. Required for RNA splicing, possibly by phosphorylatingSRSF1/SF2. Involved in regulation of MAP kinase activity, possiblyleading to affect the response to estrogen inhibitors.{ECO:0000269|PubMed:11683387, ECO:0000269|PubMed:19651820,ECO:0000269|PubMed:20952539, ECO:0000269|PubMed:22012619,ECO:0000269|PubMed:24662513}. Involved in the initiation of DNA replication. Alsoparticipates in checkpoint controls that ensure DNA replication iscompleted before mitosis is initiated.

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 CDK12_CDC6


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 CDK12_CDC6


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
CDK12MGMT, SRRM2, RBM39, ELAVL1, MYC, PRPF4, CDK13, CCNK, TRIM24, IPPK, VPS51, ZNF606, TCEB3, BARD1, PAXIP1, PRPF40A, EWSR1, CDK20, CDK9, PIN1, RPL14, ACAA1, MAP4K4, SCAF4, SUPT16H, SRPK2, CLK1, BCLAF1, RNPS1, SNW1, PCGF1, CDX1, RPL37A, RRS1, ZNF2, FGF8, RPS14, WEE1, LASP1CDC6PPP2R3B, 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, HEY1


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 CDK12_CDC6


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 CDK12_CDC6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCDC6C0032460Polycystic Ovary Syndrome1CTD_human
TgeneCDC6C1868684EAR, PATELLA, SHORT STATURE SYNDROME1CTD_human;ORPHANET
TgeneCDC6C3151126MEIER-GORLIN SYNDROME 51UNIPROT