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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: 20895

FusionGeneSummary for MAP4K3_SMC6

check button Fusion gene summary
Fusion gene informationFusion gene name: MAP4K3_SMC6
Fusion gene ID: 20895
HgeneTgene
Gene symbol

MAP4K3

SMC6

Gene ID

8491

79677

Gene namemitogen-activated protein kinase kinase kinase kinase 3structural maintenance of chromosomes 6
SynonymsGLK|MAPKKKK3|MEKKK 3|MEKKK3|RAB8IPL1SMC-6|SMC6L1|hSMC6
Cytomap

2p22.1

2p24.2

Type of geneprotein-codingprotein-coding
Descriptionmitogen-activated protein kinase kinase kinase kinase 3MAPK/ERK kinase kinase kinase 3MEK kinase kinase 3germinal center kinase-like kinasegerminal center kinase-related protein kinasestructural maintenance of chromosomes protein 6SMC protein 6SMC6 structural maintenance of chromosomes 6-like 1
Modification date2018052320180519
UniProtAcc

Q8IVH8

Q96SB8

Ensembl transtripts involved in fusion geneENST00000263881, ENST00000437545, 
ENST00000341681, ENST00000484274, 
ENST00000536018, ENST00000474502, 
ENST00000402989, ENST00000448223, 
ENST00000351948, ENST00000381272, 
ENST00000489535, 
Fusion gene scores* DoF score7 X 4 X 6=1681 X 1 X 1=1
# samples 81
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MAP4K3 [Title/Abstract] AND SMC6 [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
HgeneMAP4K3

GO:0006468

protein phosphorylation

9275185

HgeneMAP4K3

GO:0009411

response to UV

9275185

HgeneMAP4K3

GO:0034612

response to tumor necrosis factor

9275185

HgeneMAP4K3

GO:0035556

intracellular signal transduction

9275185

TgeneSMC6

GO:0006974

cellular response to DNA damage stimulus

11408570|25931565


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
TCGARVKIRPTCGA-G7-6792-01AMAP4K3chr2

39664033

-SMC6chr2

17927218

-
* 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-5UTRENST00000263881ENST00000402989MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000263881ENST00000448223MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000263881ENST00000351948MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000263881ENST00000381272MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-intronENST00000263881ENST00000489535MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000437545ENST00000402989MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000437545ENST00000448223MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000437545ENST00000351948MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000437545ENST00000381272MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-intronENST00000437545ENST00000489535MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000341681ENST00000402989MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000341681ENST00000448223MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000341681ENST00000351948MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000341681ENST00000381272MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-intronENST00000341681ENST00000489535MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000484274ENST00000402989MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000484274ENST00000448223MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000484274ENST00000351948MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-5UTRENST00000484274ENST00000381272MAP4K3chr2

39664033

-SMC6chr2

17927218

-
5CDS-intronENST00000484274ENST00000489535MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000536018ENST00000402989MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000536018ENST00000448223MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000536018ENST00000351948MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000536018ENST00000381272MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-intronENST00000536018ENST00000489535MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000474502ENST00000402989MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000474502ENST00000448223MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000474502ENST00000351948MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-5UTRENST00000474502ENST00000381272MAP4K3chr2

39664033

-SMC6chr2

17927218

-
intron-intronENST00000474502ENST00000489535MAP4K3chr2

39664033

-SMC6chr2

17927218

-

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FusionProtFeatures for MAP4K3_SMC6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAP4K3

Q8IVH8

SMC6

Q96SB8

May play a role in the response to environmental stress.Appears to act upstream of the JUN N-terminal pathway.{ECO:0000269|PubMed:9275185}. Core component of the SMC5-SMC6 complex, a complexinvolved in DNA double-strand breaks by homologous recombination.The complex may promote sister chromatid homologous recombinationby recruiting the SMC1-SMC3 cohesin complex to double-strandbreaks. The complex is required for telomere maintenance viarecombination in ALT (alternative lengthening of telomeres) celllines and mediates sumoylation of shelterin complex (telosome)components which is proposed to lead to shelterin complexdisassembly in ALT-associated PML bodies (APBs). Required forrecruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complexmay prevent transcription of episomal DNA, such as circular viralDNA genome (PubMed:26983541). {ECO:0000269|PubMed:16810316,ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:26983541}.

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 MAP4K3_SMC6


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 MAP4K3_SMC6


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
MAP4K3GRB2, SORBS1, COPS5, ITSN2, SH3RF1, PCBP1, NTRK1, GAN, IL13RA1, VAPB, MAP4K5SMC6SMC5, ALK, NSMCE1, NSMCE2, NSMCE4A, EID3, NDNL2, SMC6, OBFC1, TUFT1, ZNF597, NTRK1, HIST1H3A, ZFP36L2, BTF3, SCARB2, HEXB, IGHMBP2, LAMA2, MKI67, TP53BP1, TTC3, IFT88, CEPT1, PRDX3, HPS5, KIF1B, ASCC1, GPN3, CCDC174, NCKIPSD, DGCR8, TTC19, HEATR1, ELP3, PLXNA3, FAM178A, TMEM165, RAD18, KLC2, TMEM126A, ANKRD32, MAK16, MUM1, ESCO1, B3GALTL, ZBED6, PJA1, TSPYL6, HSPB11, IFT27, HSF1


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 MAP4K3_SMC6


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 MAP4K3_SMC6


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