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Fusion gene ID: 12057 |
FusionGeneSummary for ERP29_SLC6A14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERP29_SLC6A14 | Fusion gene ID: 12057 | Hgene | Tgene | Gene symbol | ERP29 | SLC6A14 | Gene ID | 10961 | 11254 |
| Gene name | endoplasmic reticulum protein 29 | solute carrier family 6 member 14 | |
| Synonyms | C12orf8|ERp28|ERp31|HEL-S-107|PDI-DB|PDIA9 | BMIQ11 | |
| Cytomap | 12q24.13 | Xq23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endoplasmic reticulum resident protein 29endoplasmic reticulum lumenal protein ERp28endoplasmic reticulum resident protein 28endoplasmic reticulum resident protein 31epididymis secretory protein Li 107protein disulfide isomerase family A, member 9 | sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)amino acid transporter ATB0+amino acid transporter B0+solute carrier family 6 (amino acid transporter), member 14solute carrier family 6 (neurotransmitter transporter), membe | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P30040 | Q9UN76 | |
| Ensembl transtripts involved in fusion gene | ENST00000261735, ENST00000455836, ENST00000546477, | ENST00000371900, ENST00000463626, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ERP29 [Title/Abstract] AND SLC6A14 [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 | ERP29 | GO:0000187 | activation of MAPK activity | 22064321 |
| Hgene | ERP29 | GO:0001934 | positive regulation of protein phosphorylation | 22064321 |
| Hgene | ERP29 | GO:0010628 | positive regulation of gene expression | 22064321 |
| Hgene | ERP29 | GO:0010629 | negative regulation of gene expression | 22064321 |
| Hgene | ERP29 | GO:0050709 | negative regulation of protein secretion | 22064321 |
| Tgene | SLC6A14 | GO:0009636 | response to toxic substance | 17575980 |
| 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 | CA312866 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
| * 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 |
| 3UTR-3CDS | ENST00000261735 | ENST00000371900 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
| 3UTR-intron | ENST00000261735 | ENST00000463626 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
| 3UTR-3CDS | ENST00000455836 | ENST00000371900 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
| 3UTR-intron | ENST00000455836 | ENST00000463626 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
| 3UTR-3CDS | ENST00000546477 | ENST00000371900 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
| 3UTR-intron | ENST00000546477 | ENST00000463626 | ERP29 | chr12 | 112460680 | - | SLC6A14 | chrX | 115577914 | + |
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FusionProtFeatures for ERP29_SLC6A14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERP29 | SLC6A14 |
| Does not seem to be a disulfide isomerase. Plays animportant role in the processing of secretory proteins within theendoplasmic reticulum (ER), possibly by participating in thefolding of proteins in the ER. | Mediates the uptake of a broad range of neutral andcationic amino acids (with the exception of proline) in aNa(+)/Cl(-)-dependent manner. {ECO:0000269|PubMed:10446133}. |
| 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 ERP29_SLC6A14 |
| 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 ERP29_SLC6A14 |
| 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 ERP29_SLC6A14 |
| 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 |
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RelatedDiseases for ERP29_SLC6A14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ERP29 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | ERP29 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | ERP29 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Hgene | ERP29 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | SLC6A14 | C0021843 | Intestinal Obstruction | 1 | CTD_human |
| Tgene | SLC6A14 | C1859047 | CYSTIC FIBROSIS MODIFIER 1 | 1 | CTD_human |
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