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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: 10756

FusionGeneSummary for DYNC1H1_MPP6

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC1H1_MPP6
Fusion gene ID: 10756
HgeneTgene
Gene symbol

DYNC1H1

MPP6

Gene ID

1778

51678

Gene namedynein cytoplasmic 1 heavy chain 1membrane palmitoylated protein 6
SynonymsCMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22PALS2|VAM-1|VAM1|p55T
Cytomap

14q32.31

7p15.3

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1MAGUK p55 subfamily member 6MAGUK protein p55TVELI-associated MAGUK 1membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)protein associated with Lin7 2
Modification date2018052320180522
UniProtAcc

Q14204

Q9NZW5

Ensembl transtripts involved in fusion geneENST00000360184, ENST00000556791, 
ENST00000222644, ENST00000409761, 
ENST00000396475, 
Fusion gene scores* DoF score17 X 15 X 7=17853 X 3 X 2=18
# samples 203
** MAII scorelog2(20/1785*10)=-3.15785216914174
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DYNC1H1 [Title/Abstract] AND MPP6 [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

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
ChiTaRS3.1AA256222DYNC1H1chr14

102517084

+MPP6chr7

24663301

+
* 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
3UTR-3CDSENST00000360184ENST00000222644DYNC1H1chr14

102517084

+MPP6chr7

24663301

+
3UTR-intronENST00000360184ENST00000409761DYNC1H1chr14

102517084

+MPP6chr7

24663301

+
3UTR-intronENST00000360184ENST00000396475DYNC1H1chr14

102517084

+MPP6chr7

24663301

+
intron-3CDSENST00000556791ENST00000222644DYNC1H1chr14

102517084

+MPP6chr7

24663301

+
intron-intronENST00000556791ENST00000409761DYNC1H1chr14

102517084

+MPP6chr7

24663301

+
intron-intronENST00000556791ENST00000396475DYNC1H1chr14

102517084

+MPP6chr7

24663301

+

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FusionProtFeatures for DYNC1H1_MPP6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DYNC1H1

Q14204

MPP6

Q9NZW5

Cytoplasmic dynein 1 acts as a motor for theintracellular retrograde motility of vesicles and organelles alongmicrotubules. Dynein has ATPase activity; the force-producingpower stroke is thought to occur on release of ADP. Plays a rolein mitotic spindle assembly and metaphase plate congression(PubMed:27462074). {ECO:0000269|PubMed:27462074}.

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 DYNC1H1_MPP6


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 DYNC1H1_MPP6


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


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 DYNC1H1_MPP6


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 DYNC1H1_MPP6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYNC1H1C3280220CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O4ORPHANET;UNIPROT
HgeneDYNC1H1C3281202MENTAL RETARDATION, AUTOSOMAL DOMINANT 134UNIPROT
HgeneDYNC1H1C1834690Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant2ORPHANET;UNIPROT
HgeneDYNC1H1C0025958Microcephaly1CTD_human
HgeneDYNC1H1C1955869Malformations of Cortical Development1CTD_human
HgeneDYNC1H1C3714756Intellectual Disability1CTD_human;HPO