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Fusion gene ID: 14756 |
FusionGeneSummary for GLTSCR1L_PMS1 |
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Fusion gene information | Fusion gene name: GLTSCR1L_PMS1 | Fusion gene ID: 14756 | Hgene | Tgene | Gene symbol | GLTSCR1L | PMS1 | Gene ID | 5378 |
Gene name | PMS1 homolog 1, mismatch repair system component | ||
Synonyms | HNPCC3|MLH2|PMSL1|hPMS1 | ||
Cytomap | 2q32.2 | ||
Type of gene | protein-coding | ||
Description | PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E | ||
Modification date | 20180523 | ||
UniProtAcc | P54277 | ||
Ensembl transtripts involved in fusion gene | ENST00000314073, ENST00000394168, | ENST00000441310, ENST00000418224, ENST00000409823, ENST00000421722, ENST00000447232, ENST00000432292, ENST00000409985, ENST00000374826, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 6 X 4 X 5=120 |
# samples | 4 | 6 | |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GLTSCR1L [Title/Abstract] AND PMS1 [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 |
![]() (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 | LD | KIRP | TCGA-Q2-A5QZ-01A | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
* 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 |
5UTR-3CDS | ENST00000314073 | ENST00000441310 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-3CDS | ENST00000314073 | ENST00000418224 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-3CDS | ENST00000314073 | ENST00000409823 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-3UTR | ENST00000314073 | ENST00000421722 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-intron | ENST00000314073 | ENST00000447232 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-intron | ENST00000314073 | ENST00000432292 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-intron | ENST00000314073 | ENST00000409985 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
5UTR-intron | ENST00000314073 | ENST00000374826 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-3CDS | ENST00000394168 | ENST00000441310 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-3CDS | ENST00000394168 | ENST00000418224 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-3CDS | ENST00000394168 | ENST00000409823 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-3UTR | ENST00000394168 | ENST00000421722 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-intron | ENST00000394168 | ENST00000447232 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-intron | ENST00000394168 | ENST00000432292 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-intron | ENST00000394168 | ENST00000409985 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
intron-intron | ENST00000394168 | ENST00000374826 | GLTSCR1L | chr6 | 42749839 | + | PMS1 | chr2 | 190728469 | + |
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FusionProtFeatures for GLTSCR1L_PMS1 |
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Hgene | Tgene |
GLTSCR1L | PMS1 |
Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Probably involved in the repair of mismatches in DNA.{ECO:0000269|PubMed:10748105}. |
![]() * 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 GLTSCR1L_PMS1 |
![]() (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 GLTSCR1L_PMS1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
GLTSCR1L | NFYC, CDC5L, DTNBP1, ELAVL1, SMARCD1, RAB5C, BCL7C, BCL7A | PMS1 | MLH1, BRCA2, PSD2, UBC, EXO1, RFC2, PMS1, RFC4, RFC1, POLR1C, ATR, NONO, PGK1, TOP1, MCM6, SMC3, REV3L, IPO5, IPO9, RANBP9, RANGAP1, MMS19, USP5, USP13, UBAP2L, HERC2, CUL3, CUL1, USP9Y, RNF20, HELB, MOV10, BRIP1, KPNA2, SBF2, SBF1, CCNT1, CDK9, PIK3C2A, CDC5L, AKAP9, PPP2R1A, UBR5, CYLD, PSMC1, RNF123, FAN1, MSH6, MSH2, PSMC3, NTRK1, DYNLT1, PTTG1, CEP170P1, HIST1H1D, SNX21, BBS7, PAG1, AHNAK, VAMP3, HRAS, GNG5, PYGB, MCM9 |
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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 GLTSCR1L_PMS1 |
![]() (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 GLTSCR1L_PMS1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |