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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: 19278

FusionGeneSummary for KRT6A_ELK3

check button Fusion gene summary
Fusion gene informationFusion gene name: KRT6A_ELK3
Fusion gene ID: 19278
HgeneTgene
Gene symbol

KRT6A

ELK3

Gene ID

3853

2004

Gene namekeratin 6AELK3, ETS transcription factor
SynonymsCK-6C|CK-6E|CK6A|CK6C|CK6D|K6A|K6C|K6D|KRT6C|KRT6D|PC3ERP|NET|SAP-2|SAP2
Cytomap

12q13.13

12q23.1

Type of geneprotein-codingprotein-coding
Descriptionkeratin, type II cytoskeletal 6Ccytokeratin 6Acytokeratin 6Ccytokeratin 6Dkeratin 6A, , type IIkeratin 6A, type IIkeratin, epidermal type II, K6Akeratin, type II cytoskeletal 6Atype-II keratin Kb6ETS domain-containing protein Elk-3ELK3, ETS-domain protein (SRF accessory protein 2)ETS-related protein ERPETS-related protein NETSRF accessory protein 2serum response factor accessory protein 2
Modification date2018051920180523
UniProtAcc

P02538

P41970

Ensembl transtripts involved in fusion geneENST00000330722, ENST00000228741, 
ENST00000552142, ENST00000549529, 
Fusion gene scores* DoF score8 X 4 X 3=9619 X 4 X 9=684
# samples 818
** MAII scorelog2(8/96*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/684*10)=-1.92599941855622
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KRT6A [Title/Abstract] AND ELK3 [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
TgeneELK3

GO:0045892

negative regulation of transcription, DNA-templated

12933792

TgeneELK3

GO:0045944

positive regulation of transcription by RNA polymerase II

12788937


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
TCGARVCESCTCGA-DG-A2KM-01AKRT6Achr12

52880958

-ELK3chr12

96588323

+
* 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-5UTRENST00000330722ENST00000228741KRT6Achr12

52880958

-ELK3chr12

96588323

+
5CDS-5UTRENST00000330722ENST00000552142KRT6Achr12

52880958

-ELK3chr12

96588323

+
5CDS-intronENST00000330722ENST00000549529KRT6Achr12

52880958

-ELK3chr12

96588323

+

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FusionProtFeatures for KRT6A_ELK3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KRT6A

P02538

ELK3

P41970

Epidermis-specific type I keratin involved in woundhealing. Involved in the activation of follicular keratinocytesafter wounding, while it does not play a major role inkeratinocyte proliferation or migration. Participates in theregulation of epithelial migration by inhibiting the activity ofSRC during wound repair. {ECO:0000250|UniProtKB:P50446}. May be a negative regulator of transcription, but canactivate transcription when coexpressed with Ras, Src or Mos.Forms a ternary complex with the serum response factor and the ETSand SRF motifs of the Fos serum response element.

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 KRT6A_ELK3


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 KRT6A_ELK3


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
KRT6ACCDC53, CCDC85B, KRT15, KRT17, CUL5, CUL2, CUL1, COPS5, CBL, UBASH3B, GRB2, SHC1, CRK, EPS15, AP2M1, ALB, IQCB1, ITGA4, PAN2, KDM1A, LGR4, TRIM23, GOLGA2, KIFC3, KRT13, KRT31, SGTA, KRT38, HGS, TFIP11, TRIM54, KRT40, CCDC8, EED, EMC8, RPS6KB2, HNRNPA1, PAPD5, CYLD, SMARCB1, LMNAELK3TCF3, TOP1, APP


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 KRT6A_ELK3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKRT6AP02538DB01593ZincKeratin, type II cytoskeletal 6Asmall moleculeapproved|investigational

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RelatedDiseases for KRT6A_ELK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKRT6AC3714948PACHYONYCHIA CONGENITA 39UNIPROT
TgeneELK3C1458155Mammary Neoplasms1CTD_human