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Fusion gene ID: 34633 |
FusionGeneSummary for SLC9A1_COL4A1 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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Hgene | Tgene |
SLC9A1 | COL4A1 |
Involved in pH regulation to eliminate acids generatedby active metabolism or to counter adverse environmentalconditions. Major proton extruding system driven by the inwardsodium ion chemical gradient. Plays an important role in signaltransduction. {ECO:0000269|PubMed:11350981,ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:8901634}. |
![]() * 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 SLC9A1_COL4A1 |
![]() (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 SLC9A1_COL4A1 |
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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 SLC9A1_COL4A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | SLC9A1 | P19634 | DB00594 | Amiloride | Sodium/hydrogen exchanger 1 | small molecule | approved |
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RelatedDiseases for SLC9A1_COL4A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SLC9A1 | C0004763 | Barrett Esophagus | 1 | CTD_human |
Hgene | SLC9A1 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
Hgene | SLC9A1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | SLC9A1 | C0013604 | Edema | 1 | CTD_human |
Hgene | SLC9A1 | C0018801 | Heart failure | 1 | CTD_human |
Hgene | SLC9A1 | C0030193 | Pain | 1 | CTD_human |
Hgene | SLC9A1 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Hgene | SLC9A1 | C0036982 | Shock, Hemorrhagic | 1 | CTD_human |
Hgene | SLC9A1 | C4225383 | LICHTENSTEIN-KNORR SYNDROME | 1 | ORPHANET;UNIPROT |
Tgene | COL4A1 | C4013035 | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 8 | ORPHANET;UNIPROT |
Tgene | COL4A1 | C1867983 | PORENCEPHALY, FAMILIAL | 3 | ORPHANET;UNIPROT |
Tgene | COL4A1 | C2673195 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL4A1 | C0017668 | Focal glomerulosclerosis | 2 | CTD_human |
Tgene | COL4A1 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Tgene | COL4A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | COL4A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Tgene | COL4A1 | C0266484 | Schizencephaly | 1 | HPO;ORPHANET;UNIPROT |
Tgene | COL4A1 | C3281105 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | 1 | UNIPROT |