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Fusion gene ID: 21271 |
FusionGeneSummary for MCC_SLC9A9 |
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Fusion gene information | Fusion gene name: MCC_SLC9A9 | Fusion gene ID: 21271 | Hgene | Tgene | Gene symbol | MCC | SLC9A9 | Gene ID | 4163 | 285195 |
Gene name | MCC, WNT signaling pathway regulator | solute carrier family 9 member A9 | |
Synonyms | MCC1 | AUTS16|NHE9 | |
Cytomap | 5q22.2 | 3q24 | |
Type of gene | protein-coding | protein-coding | |
Description | colorectal mutant cancer proteinmutated in colorectal cancers | sodium/hydrogen exchanger 9Na(+)/H(+) exchanger 9putative protein product of Nbla00118sodium/proton exchanger NHE9solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P23508 | Q8IVB4 | |
Ensembl transtripts involved in fusion gene | ENST00000302475, ENST00000514701, ENST00000515367, ENST00000408903, | ENST00000316549, ENST00000498717, | |
Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 7 X 7 X 5=245 |
# samples | 6 | 7 | |
** MAII score | log2(6/60*10)=0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MCC [Title/Abstract] AND SLC9A9 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 | MCC | GO:0045184 | establishment of protein localization | 18591935 |
Hgene | MCC | GO:0050680 | negative regulation of epithelial cell proliferation | 18591935 |
Hgene | MCC | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18591935 |
![]() (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 |
TCGA | RV | KIRC | TCGA-CJ-4886-01A | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
* 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 |
Frame-shift | ENST00000302475 | ENST00000316549 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
5CDS-intron | ENST00000302475 | ENST00000498717 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
5UTR-3CDS | ENST00000514701 | ENST00000316549 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
5UTR-intron | ENST00000514701 | ENST00000498717 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
intron-3CDS | ENST00000515367 | ENST00000316549 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
intron-intron | ENST00000515367 | ENST00000498717 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
intron-3CDS | ENST00000408903 | ENST00000316549 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
intron-intron | ENST00000408903 | ENST00000498717 | MCC | chr5 | 112630026 | - | SLC9A9 | chr3 | 143551063 | - |
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FusionProtFeatures for MCC_SLC9A9 |
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Hgene | Tgene |
MCC | SLC9A9 |
Candidate for the putative colorectal tumor suppressorgene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA bindingof b-catenin/TCF/LEF transcription factors. Involved in cellmigration independently of RAC1, CDC42 and p21-activated kinase(PAK) activation (PubMed:18591935, PubMed:19555689,PubMed:22480440). Represses the beta-catenin pathway (canonicalWnt signaling pathway) in a CCAR2-dependent manner by sequesteringCCAR2 to the cytoplasm, thereby impairing its ability to inhibitSIRT1 which is involved in the deacetylation and negativeregulation of beta-catenin (CTNB1) transcriptional activity(PubMed:24824780). {ECO:0000269|PubMed:18591935,ECO:0000269|PubMed:19555689, ECO:0000269|PubMed:22480440,ECO:0000269|PubMed:24824780}. | May act in electroneutral exchange of protons for Na(+)across membranes. Involved in the effusion of Golgi luminal H(+)in exchange for cytosolic cations. Involved in organelle ionhomeostasis by contributing to the maintenance of the uniqueacidic pH values of the Golgi and post-Golgi compartments in thecell. {ECO:0000269|PubMed:15522866}. |
![]() * 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 MCC_SLC9A9 |
![]() (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 MCC_SLC9A9 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MCC | CLTC, STRN, STK24, STRN3, STRN4, EPRS, PPP2R1A, VCP, CSNK1D, MYH10, KRT18, TPM3, CSNK1E, EIF3A, PFAS, IARS, TARS, PFKP, SNRNP200, MTHFD1, PDCD10, DFFA, PSME3, MARS, CBR1, VDAC1, STRIP1, HPRT1, PSMD2, CCNA1, EZR, VHL, PAICS, VPS35, LTA4H, DYNC1I1, NEK2, APP, ERBB2IP, GTF2E2, CBX5, CCAR2, NFKBIB, MAGEE1, SYNC, CCDC83, DAB2IP, DFNB31, MTNR1A | SLC9A9 | ZDHHC17, TP53 |
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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 MCC_SLC9A9 |
![]() (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 MCC_SLC9A9 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MCC | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | MCC | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
Hgene | MCC | C0034885 | Rectal Neoplasms | 1 | CTD_human |
Hgene | MCC | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | SLC9A9 | C0004352 | Autistic Disorder | 1 | CTD_human |