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Fusion gene ID: 33995 |
FusionGeneSummary for SKI_LDHA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SKI_LDHA | Fusion gene ID: 33995 | Hgene | Tgene | Gene symbol | SKI | LDHA | Gene ID | 6497 | 3939 |
| Gene name | SKI proto-oncogene | lactate dehydrogenase A | |
| Synonyms | SGS|SKV | GSD11|HEL-S-133P|LDHM|PIG19 | |
| Cytomap | 1p36.33-p36.32 | 11p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog | L-lactate dehydrogenase A chainLDH muscle subunitLDH-ALDH-Mcell proliferation-inducing gene 19 proteinepididymis secretory sperm binding protein Li 133Plactate dehydrogenase Mproliferation-inducing gene 19renal carcinoma antigen NY-REN-59 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P12755 | P00338 | |
| Ensembl transtripts involved in fusion gene | ENST00000378536, ENST00000478223, | ENST00000422447, ENST00000430553, ENST00000396222, ENST00000227157, ENST00000540430, ENST00000379412, ENST00000542179, | |
| Fusion gene scores | * DoF score | 11 X 5 X 8=440 | 4 X 4 X 1=16 |
| # samples | 13 | 6 | |
| ** MAII score | log2(13/440*10)=-1.7589919004962 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/16*10)=1.90689059560852 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SKI [Title/Abstract] AND LDHA [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 | SKI | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17469184 |
| Hgene | SKI | GO:0008285 | negative regulation of cell proliferation | 11430826 |
| Hgene | SKI | GO:0014902 | myotube differentiation | 19008232 |
| Hgene | SKI | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 17469184 |
| Hgene | SKI | GO:0030514 | negative regulation of BMP signaling pathway | 14699069 |
| Hgene | SKI | GO:0032926 | negative regulation of activin receptor signaling pathway | 14699069 |
| Hgene | SKI | GO:0043388 | positive regulation of DNA binding | 15107821 |
| Hgene | SKI | GO:0045668 | negative regulation of osteoblast differentiation | 14699069 |
| Hgene | SKI | GO:0060395 | SMAD protein signal transduction | 12874272 |
| Hgene | SKI | GO:0070207 | protein homotrimerization | 8514802 |
| 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 | BC025288 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + | ||
| ChiTaRS3.1 | BC051361 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + | ||
| ChiTaRS3.1 | BC072009 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| * 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 |
| 3UTR-5UTR | ENST00000378536 | ENST00000422447 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| 3UTR-5UTR | ENST00000378536 | ENST00000430553 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| 3UTR-5UTR | ENST00000378536 | ENST00000396222 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| 3UTR-intron | ENST00000378536 | ENST00000227157 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| 3UTR-intron | ENST00000378536 | ENST00000540430 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| 3UTR-intron | ENST00000378536 | ENST00000379412 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| 3UTR-intron | ENST00000378536 | ENST00000542179 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-5UTR | ENST00000478223 | ENST00000422447 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-5UTR | ENST00000478223 | ENST00000430553 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-5UTR | ENST00000478223 | ENST00000396222 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-intron | ENST00000478223 | ENST00000227157 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-intron | ENST00000478223 | ENST00000540430 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-intron | ENST00000478223 | ENST00000379412 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
| intron-intron | ENST00000478223 | ENST00000542179 | SKI | chr1 | 2238670 | - | LDHA | chr11 | 18416115 | + |
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FusionProtFeatures for SKI_LDHA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SKI | LDHA |
| May play a role in terminal differentiation of skeletalmuscle cells but not in the determination of cells to the myogeniclineage. Functions as a repressor of TGF-beta signaling.{ECO:0000269|PubMed:19049980}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 SKI_LDHA |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 SKI_LDHA |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SKI_LDHA |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | LDHA | P00338 | DB09118 | Stiripentol | L-lactate dehydrogenase A chain | small molecule | approved |
| Tgene | LDHA | P00338 | DB02701 | Nicotinamide | L-lactate dehydrogenase A chain | small molecule | approved|investigational |
| Tgene | LDHA | P00338 | DB11638 | Artenimol | L-lactate dehydrogenase A chain | small molecule | approved|investigational |
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RelatedDiseases for SKI_LDHA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SKI | C1321551 | Shprintzen-Goldberg syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | SKI | C0003486 | Aortic Aneurysm | 1 | CTD_human |
| Hgene | SKI | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Hgene | SKI | C0151491 | Congenital musculoskeletal anomalies | 1 | CTD_human |
| Hgene | SKI | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | LDHA | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | LDHA | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | LDHA | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | LDHA | C0027080 | Myoglobinuria | 1 | CTD_human;HPO |
| Tgene | LDHA | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | LDHA | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | LDHA | C0878544 | Cardiomyopathies | 1 | CTD_human |
| Tgene | LDHA | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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