|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 18952 |
FusionGeneSummary for KITLG_ST8SIA6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KITLG_ST8SIA6 | Fusion gene ID: 18952 | Hgene | Tgene | Gene symbol | KITLG | ST8SIA6 | Gene ID | 4254 | 338596 |
| Gene name | KIT ligand | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 | |
| Synonyms | DCUA|DFNA69|FPH2|FPHH|KL-1|Kitl|MGF|SCF|SF|SHEP7|SLF | SIA8F|SIAT8-F|SIAT8F|ST8SIA-VI|ST8SiaVI | |
| Cytomap | 12q21.32 | 10p12.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kit ligandc-Kit ligandfamilial progressive hyperpigmentation 2mast cell growth factorsteel factorstem cell factor | alpha-2,8-sialyltransferase 8FST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 6sialyltransferase 8F (alpha-2, 8-sialyltransferase)sialyltransferase St8Sia VI | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P21583 | P61647 | |
| Ensembl transtripts involved in fusion gene | ENST00000378535, ENST00000228280, ENST00000347404, ENST00000357116, | ENST00000377602, | |
| Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 5 X 4 X 4=80 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KITLG [Title/Abstract] AND ST8SIA6 [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 | KITLG | GO:0008284 | positive regulation of cell proliferation | 9722506 |
| Hgene | KITLG | GO:0035162 | embryonic hemopoiesis | 21149635 |
| 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 |
| TCGA | RV | SARC | TCGA-DX-A1L4-01A | KITLG | chr12 | 88974041 | - | ST8SIA6 | chr10 | 17373551 | - |
| * 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-3CDS | ENST00000378535 | ENST00000377602 | KITLG | chr12 | 88974041 | - | ST8SIA6 | chr10 | 17373551 | - |
| Frame-shift | ENST00000228280 | ENST00000377602 | KITLG | chr12 | 88974041 | - | ST8SIA6 | chr10 | 17373551 | - |
| Frame-shift | ENST00000347404 | ENST00000377602 | KITLG | chr12 | 88974041 | - | ST8SIA6 | chr10 | 17373551 | - |
| 5UTR-3CDS | ENST00000357116 | ENST00000377602 | KITLG | chr12 | 88974041 | - | ST8SIA6 | chr10 | 17373551 | - |
Top |
FusionProtFeatures for KITLG_ST8SIA6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KITLG | ST8SIA6 |
| Ligand for the receptor-type protein-tyrosine kinaseKIT. Plays an essential role in the regulation of cell survivaland proliferation, hematopoiesis, stem cell maintenance,gametogenesis, mast cell development, migration and function, andin melanogenesis. KITLG/SCF binding can activate several signalingpathways. Promotes phosphorylation of PIK3R1, the regulatorysubunit of phosphatidylinositol 3-kinase, and subsequentactivation of the kinase AKT1. KITLG/SCF and KIT also transmitsignals via GRB2 and activation of RAS, RAF1 and the MAP kinasesMAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activationof STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KITpromote activation of PLCG1, leading to the production of thecellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with othercytokines, probably interleukins. | Prefers O-glycans to N-glycans or glycolipids asacceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of theircarbohydrate groups (By similarity). {ECO:0000250}. |
| 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 |
Top |
FusionGeneSequence for KITLG_ST8SIA6 |
| 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). |
Top |
FusionGenePPI for KITLG_ST8SIA6 |
| 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 |
| KITLG | KITLG, KIT, ATP8B2, PIGU, KLHDC10, FLT3LG, SLC22A18 | ST8SIA6 | PTEN |
| - 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 |
Top |
RelatedDrugs for KITLG_ST8SIA6 |
| 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 |
Top |
RelatedDiseases for KITLG_ST8SIA6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KITLG | C0027658 | Neoplasms, Germ Cell and Embryonal | 2 | CTD_human |
| Hgene | KITLG | C0039590 | Testicular Neoplasms | 2 | CTD_human |
| Hgene | KITLG | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | KITLG | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | KITLG | C0027430 | Nasal Polyps | 1 | CTD_human |
| Hgene | KITLG | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Hgene | KITLG | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | KITLG | C1840392 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|