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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: 3492

FusionGeneSummary for ATP7A_PGAM1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP7A_PGAM1
Fusion gene ID: 3492
HgeneTgene
Gene symbol

ATP7A

PGAM1

Gene ID

538

5223

Gene nameATPase copper transporting alphaphosphoglycerate mutase 1
SynonymsDSMAX|MK|MNK|SMAX3HEL-S-35|PGAM-B|PGAMA
Cytomap

Xq21.1

10q24.1

Type of geneprotein-codingprotein-coding
Descriptioncopper-transporting ATPase 1ATPase, Cu++ transporting, alpha polypeptideCu++-transporting P-type ATPaseMenkes disease-associated proteincopper pump 1phosphoglycerate mutase 1BPG-dependent PGAM 1epididymis secretory protein Li 35phosphoglycerate mutase 1 (brain)phosphoglycerate mutase A, nonmuscle formphosphoglycerate mutase isozyme B
Modification date2018052320180522
UniProtAcc

Q04656

P18669

Ensembl transtripts involved in fusion geneENST00000350425, ENST00000343533, 
ENST00000341514, 
ENST00000334828, 
ENST00000467867, 
Fusion gene scores* DoF score3 X 2 X 4=242 X 2 X 1=4
# samples 42
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: ATP7A [Title/Abstract] AND PGAM1 [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
HgeneATP7A

GO:0051353

positive regulation of oxidoreductase activity

11092760

TgenePGAM1

GO:0006096

glycolytic process

22590500

TgenePGAM1

GO:0006110

regulation of glycolytic process

12189148

TgenePGAM1

GO:0043456

regulation of pentose-phosphate shunt

12189148

TgenePGAM1

GO:0045730

respiratory burst

12189148


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
ChiTaRS3.1CN393630ATP7AchrX

77223635

-PGAM1chr10

99192262

+
* 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
intron-3CDSENST00000350425ENST00000334828ATP7AchrX

77223635

-PGAM1chr10

99192262

+
intron-3UTRENST00000350425ENST00000467867ATP7AchrX

77223635

-PGAM1chr10

99192262

+
intron-3CDSENST00000343533ENST00000334828ATP7AchrX

77223635

-PGAM1chr10

99192262

+
intron-3UTRENST00000343533ENST00000467867ATP7AchrX

77223635

-PGAM1chr10

99192262

+
intron-3CDSENST00000341514ENST00000334828ATP7AchrX

77223635

-PGAM1chr10

99192262

+
intron-3UTRENST00000341514ENST00000467867ATP7AchrX

77223635

-PGAM1chr10

99192262

+

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FusionProtFeatures for ATP7A_PGAM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP7A

Q04656

PGAM1

P18669

May supply copper to copper-requiring proteins withinthe secretory pathway, when localized in the trans-Golgi network.Under conditions of elevated extracellular copper, it relocalizedto the plasma membrane where it functions in the efflux of copperfrom cells. Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can alsocatalyze the reaction of EC 5.4.2.4 (synthase), but with a reducedactivity.

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 ATP7A_PGAM1


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 ATP7A_PGAM1


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 ATP7A_PGAM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePGAM1P18669DB11638ArtenimolPhosphoglycerate mutase 1small moleculeapproved|investigational

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RelatedDiseases for ATP7A_PGAM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP7AC0022716Menkes Kinky Hair Syndrome35CTD_human;ORPHANET;UNIPROT
HgeneATP7AC0268353Cutis laxa, x-linked3CTD_human;ORPHANET;UNIPROT
HgeneATP7AC0003496Aortic Rupture2CTD_human
HgeneATP7AC0027854Neurologic Manifestations2CTD_human
HgeneATP7AC0002871Anemia1CTD_human
HgeneATP7AC0004134Ataxia1CTD_human
HgeneATP7AC0009375Colonic Neoplasms1CTD_human
HgeneATP7AC0018273Growth Disorders1CTD_human
HgeneATP7AC0019054Hemolysis (disorder)1CTD_human
HgeneATP7AC0019189Hepatitis, Chronic1CTD_human
HgeneATP7AC0020542Pulmonary Hypertension1CTD_human
HgeneATP7AC0023904Liver Neoplasms, Experimental1CTD_human
HgeneATP7AC0036572Seizures1CTD_human;HPO
HgeneATP7AC0040822Tremor1CTD_human
HgeneATP7AC0522224Paralysed1CTD_human
HgeneATP7AC1845359Spinal Muscular Atrophy, Distal, X-Linked 31CTD_human;ORPHANET;UNIPROT
HgeneATP7AC2936380Neointima1CTD_human
TgenePGAM1C0001418Adenocarcinoma1CTD_human
TgenePGAM1C0005586Bipolar Disorder1PSYGENET
TgenePGAM1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgenePGAM1C0007137Squamous cell carcinoma1CTD_human
TgenePGAM1C0024667Animal Mammary Neoplasms1CTD_human
TgenePGAM1C0024668Mammary Neoplasms, Experimental1CTD_human
TgenePGAM1C0026640Mouth Neoplasms1CTD_human
TgenePGAM1C0038356Stomach Neoplasms1CTD_human