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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: 10746

FusionGeneSummary for DYNC1H1_ATP1A2

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC1H1_ATP1A2
Fusion gene ID: 10746
HgeneTgene
Gene symbol

DYNC1H1

ATP1A2

Gene ID

1778

477

Gene namedynein cytoplasmic 1 heavy chain 1ATPase Na+/K+ transporting subunit alpha 2
SynonymsCMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22FHM2|MHP2
Cytomap

14q32.31

1q23.2

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1sodium/potassium-transporting ATPase subunit alpha-2ATPase Na+/K+ transporting alpha 2 polypeptideNa(+)/K(+) ATPase alpha-2 subunitNa+/K+ ATPase, alpha-A(+) catalytic polypeptideNa+/K+ ATPase, alpha-B polypeptidesodium pump subunit alpha-2sodium-pot
Modification date2018052320180523
UniProtAcc

Q14204

P50993

Ensembl transtripts involved in fusion geneENST00000360184, ENST00000556791, 
ENST00000361216, ENST00000392233, 
ENST00000459972, 
Fusion gene scores* DoF score17 X 15 X 7=17851 X 1 X 1=1
# samples 201
** MAII scorelog2(20/1785*10)=-3.15785216914174
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: DYNC1H1 [Title/Abstract] AND ATP1A2 [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
TgeneATP1A2

GO:0006883

cellular sodium ion homeostasis

10636900

TgeneATP1A2

GO:0010107

potassium ion import

10636900

TgeneATP1A2

GO:0030007

cellular potassium ion homeostasis

10636900

TgeneATP1A2

GO:0036376

sodium ion export across plasma membrane

10636900

TgeneATP1A2

GO:0071383

cellular response to steroid hormone stimulus

14742675


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
ChiTaRS3.1BI033138DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-
* 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-shiftENST00000360184ENST00000361216DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-
Frame-shiftENST00000360184ENST00000392233DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-
5CDS-intronENST00000360184ENST00000459972DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-
3UTR-3CDSENST00000556791ENST00000361216DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-
3UTR-3CDSENST00000556791ENST00000392233DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-
3UTR-intronENST00000556791ENST00000459972DYNC1H1chr14

102499656

-ATP1A2chr1

160105057

-

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FusionProtFeatures for DYNC1H1_ATP1A2


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

Q14204

ATP1A2

P50993

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}. This is the catalytic component of the active enzyme,which catalyzes the hydrolysis of ATP coupled with the exchange ofsodium and potassium ions across the plasma membrane. This actioncreates the electrochemical gradient of sodium and potassium,providing the energy for active transport of various nutrients.

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_ATP1A2


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_ATP1A2


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_ATP1A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATP1A2P50993DB01092OuabainSodium/potassium-transporting ATPase subunit alpha-2small moleculeapproved

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RelatedDiseases for DYNC1H1_ATP1A2


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
TgeneATP1A2C1865322MIGRAINE, FAMILIAL HEMIPLEGIC, 26CTD_human;UNIPROT
TgeneATP1A2C0020538Hypertensive disease2CTD_human
TgeneATP1A2C0005586Bipolar Disorder1PSYGENET
TgeneATP1A2C3549447ALTERNATING HEMIPLEGIA OF CHILDHOOD 11UNIPROT