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Fusion gene ID: 34633 |
FusionGeneSummary for SLC9A1_COL4A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC9A1_COL4A1 | Fusion gene ID: 34633 | Hgene | Tgene | Gene symbol | SLC9A1 | COL4A1 | Gene ID | 6548 | 1282 |
| Gene name | solute carrier family 9 member A1 | collagen type IV alpha 1 chain | |
| Synonyms | APNH|LIKNS|NHE-1|NHE1|PPP1R143 | BSVD|RATOR | |
| Cytomap | 1p36.11 | 13q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sodium/hydrogen exchanger 1Na(+)/H(+) exchanger 1Na-Li countertransporterprotein phosphatase 1, regulatory subunit 143solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)solute carrier family 9 (sod | collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain | |
| Modification date | 20180527 | 20180527 | |
| UniProtAcc | P19634 | P02462 | |
| Ensembl transtripts involved in fusion gene | ENST00000263980, ENST00000490329, ENST00000545949, ENST00000374086, | ENST00000375820, ENST00000543140, ENST00000467182, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 8 X 8 X 5=320 |
| # samples | 3 | 10 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/320*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLC9A1 [Title/Abstract] AND COL4A1 [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 | SLC9A1 | GO:0006883 | cellular sodium ion homeostasis | 24840010 |
| Hgene | SLC9A1 | GO:0006885 | regulation of pH | 8901634 |
| Hgene | SLC9A1 | GO:0010447 | response to acidic pH | 8901634 |
| Hgene | SLC9A1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22688515 |
| Hgene | SLC9A1 | GO:0051453 | regulation of intracellular pH | 15035633|24840010 |
| Hgene | SLC9A1 | GO:0070886 | positive regulation of calcineurin-NFAT signaling cascade | 22688515 |
| Hgene | SLC9A1 | GO:0071468 | cellular response to acidic pH | 24840010 |
| Hgene | SLC9A1 | GO:0098719 | sodium ion import across plasma membrane | 24840010 |
| Hgene | SLC9A1 | GO:1902600 | proton transmembrane transport | 24840010 |
| 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 | AI992338 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| * 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-intron | ENST00000263980 | ENST00000375820 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000263980 | ENST00000543140 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000263980 | ENST00000467182 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000490329 | ENST00000375820 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000490329 | ENST00000543140 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000490329 | ENST00000467182 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000545949 | ENST00000375820 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000545949 | ENST00000543140 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000545949 | ENST00000467182 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000374086 | ENST00000375820 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000374086 | ENST00000543140 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
| intron-intron | ENST00000374086 | ENST00000467182 | SLC9A1 | chr1 | 27425417 | + | COL4A1 | chr13 | 110861195 | + |
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FusionProtFeatures for SLC9A1_COL4A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC9A1 | COL4A1 |