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Fusion gene ID: 3492 |
FusionGeneSummary for ATP7A_PGAM1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ATP7A_PGAM1 | Fusion gene ID: 3492 | Hgene | Tgene | Gene symbol | ATP7A | PGAM1 | Gene ID | 538 | 5223 |
Gene name | ATPase copper transporting alpha | phosphoglycerate mutase 1 | |
Synonyms | DSMAX|MK|MNK|SMAX3 | HEL-S-35|PGAM-B|PGAMA | |
Cytomap | Xq21.1 | 10q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | copper-transporting ATPase 1ATPase, Cu++ transporting, alpha polypeptideCu++-transporting P-type ATPaseMenkes disease-associated proteincopper pump 1 | phosphoglycerate mutase 1BPG-dependent PGAM 1epididymis secretory protein Li 35phosphoglycerate mutase 1 (brain)phosphoglycerate mutase A, nonmuscle formphosphoglycerate mutase isozyme B | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q04656 | P18669 | |
Ensembl transtripts involved in fusion gene | ENST00000350425, ENST00000343533, ENST00000341514, | ENST00000334828, ENST00000467867, | |
Fusion gene scores | * DoF score | 3 X 2 X 4=24 | 2 X 2 X 1=4 |
# samples | 4 | 2 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATP7A | GO:0051353 | positive regulation of oxidoreductase activity | 11092760 |
Tgene | PGAM1 | GO:0006096 | glycolytic process | 22590500 |
Tgene | PGAM1 | GO:0006110 | regulation of glycolytic process | 12189148 |
Tgene | PGAM1 | GO:0043456 | regulation of pentose-phosphate shunt | 12189148 |
Tgene | PGAM1 | GO:0045730 | respiratory burst | 12189148 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | CN393630 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000350425 | ENST00000334828 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
intron-3UTR | ENST00000350425 | ENST00000467867 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
intron-3CDS | ENST00000343533 | ENST00000334828 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
intron-3UTR | ENST00000343533 | ENST00000467867 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
intron-3CDS | ENST00000341514 | ENST00000334828 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
intron-3UTR | ENST00000341514 | ENST00000467867 | ATP7A | chrX | 77223635 | - | PGAM1 | chr10 | 99192262 | + |
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FusionProtFeatures for ATP7A_PGAM1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ATP7A | PGAM1 |
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. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ATP7A_PGAM1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ATP7A_PGAM1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | PGAM1 | P18669 | DB11638 | Artenimol | Phosphoglycerate mutase 1 | small molecule | approved|investigational |
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RelatedDiseases for ATP7A_PGAM1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP7A | C0022716 | Menkes Kinky Hair Syndrome | 35 | CTD_human;ORPHANET;UNIPROT |
Hgene | ATP7A | C0268353 | Cutis laxa, x-linked | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | ATP7A | C0003496 | Aortic Rupture | 2 | CTD_human |
Hgene | ATP7A | C0027854 | Neurologic Manifestations | 2 | CTD_human |
Hgene | ATP7A | C0002871 | Anemia | 1 | CTD_human |
Hgene | ATP7A | C0004134 | Ataxia | 1 | CTD_human |
Hgene | ATP7A | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | ATP7A | C0018273 | Growth Disorders | 1 | CTD_human |
Hgene | ATP7A | C0019054 | Hemolysis (disorder) | 1 | CTD_human |
Hgene | ATP7A | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
Hgene | ATP7A | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Hgene | ATP7A | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Hgene | ATP7A | C0036572 | Seizures | 1 | CTD_human;HPO |
Hgene | ATP7A | C0040822 | Tremor | 1 | CTD_human |
Hgene | ATP7A | C0522224 | Paralysed | 1 | CTD_human |
Hgene | ATP7A | C1845359 | Spinal Muscular Atrophy, Distal, X-Linked 3 | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | ATP7A | C2936380 | Neointima | 1 | CTD_human |
Tgene | PGAM1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | PGAM1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | PGAM1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | PGAM1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | PGAM1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | PGAM1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | PGAM1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Tgene | PGAM1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |