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Fusion gene ID: 12057 |
FusionGeneSummary for ERP29_SLC6A14 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ERP29_SLC6A14 |
![]() (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 |
![]() (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 |