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Fusion gene ID: 7193 |
FusionGeneSummary for CHST6_FA2H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHST6_FA2H | Fusion gene ID: 7193 | Hgene | Tgene | Gene symbol | CHST6 | FA2H | Gene ID | 4166 | 79152 |
| Gene name | carbohydrate sulfotransferase 6 | fatty acid 2-hydroxylase | |
| Synonyms | MCDC1 | FAAH|FAH1|FAXDC1|SCS7|SPG35 | |
| Cytomap | 16q23.1 | 16q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | carbohydrate sulfotransferase 6C-GlcNAc6STGST4-betaN-acetylglucosamine 6-O-sulfotransferase 5N-acetylglucosamine 6-sulfotransferasecarbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6corneal N-acetylglucosamine 6-sulfotransferasecorneal N-acet | fatty acid 2-hydroxylasefatty acid alpha-hydroxylasefatty acid hydroxylase domain containing 1spastic paraplegia 35 (autosomal recessive) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9GZX3 | Q7L5A8 | |
| Ensembl transtripts involved in fusion gene | ENST00000332272, ENST00000390664, | ENST00000219368, ENST00000544337, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: CHST6 [Title/Abstract] AND FA2H [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 | CHST6 | GO:0006044 | N-acetylglucosamine metabolic process | 11352640 |
| Hgene | CHST6 | GO:0006790 | sulfur compound metabolic process | 11352640 |
| Hgene | CHST6 | GO:0018146 | keratan sulfate biosynthetic process | 11278593 |
| 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 | LD | PAAD | TCGA-HZ-8317-01A | CHST6 | chr16 | 75515715 | - | FA2H | chr16 | 74774013 | - |
| * 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 |
| 5UTR-3CDS | ENST00000332272 | ENST00000219368 | CHST6 | chr16 | 75515715 | - | FA2H | chr16 | 74774013 | - |
| 5UTR-5UTR | ENST00000332272 | ENST00000544337 | CHST6 | chr16 | 75515715 | - | FA2H | chr16 | 74774013 | - |
| 5UTR-3CDS | ENST00000390664 | ENST00000219368 | CHST6 | chr16 | 75515715 | - | FA2H | chr16 | 74774013 | - |
| 5UTR-5UTR | ENST00000390664 | ENST00000544337 | CHST6 | chr16 | 75515715 | - | FA2H | chr16 | 74774013 | - |
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FusionProtFeatures for CHST6_FA2H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHST6 | FA2H |
| Sulfotransferase that utilizes 3'-phospho-5'-adenylylsulfate (PAPS) as sulfonate donor to catalyze the transfer ofsulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc)residues of keratan. Mediates sulfation of keratan in cornea.Keratan sulfate plays a central role in maintaining cornealtransparency. Acts on the non-reducing terminal GlcNAc of shortand long carbohydrate substrates that have poly-N-acetyllactosamine structures. {ECO:0000269|PubMed:11352640,ECO:0000269|PubMed:12218059}. | Required for alpha-hydroxylation of free fatty acids andthe formation of alpha-hydroxylated sphingolipids.{ECO:0000269|PubMed:15337768, ECO:0000269|PubMed:17355976}. |
| 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 CHST6_FA2H |
| 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 CHST6_FA2H |
| 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 |
| CHST6 | CHST4, LRRC3, GOLPH3L, GOLPH3, GLB1L2, FAM3C, BACE2, ALG9, CANX, DNAJC18, CCPG1, DNAJB9, GPX8 | FA2H | UBQLN4, ERLIN1, TCTN3, CREB3, LMNA |
| - 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 CHST6_FA2H |
| 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 |
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RelatedDiseases for CHST6_FA2H |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CHST6 | C1636149 | Macular dystrophy, corneal type 1 | 13 | CTD_human;UNIPROT |
| Tgene | FA2H | C3496228 | Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia | 3 | CTD_human;ORPHANET;UNIPROT |
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