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Fusion gene ID: 8564 |
FusionGeneSummary for CRYM_XYLT1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CRYM_XYLT1 | Fusion gene ID: 8564 | Hgene | Tgene | Gene symbol | CRYM | XYLT1 | Gene ID | 1428 | 64131 |
Gene name | crystallin mu | xylosyltransferase 1 | |
Synonyms | DFNA40|THBP | DBQD2|PXYLT1|XT-I|XT1|XTI|XYLTI|xylT-I | |
Cytomap | 16p12.2 | 16p12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | ketimine reductase mu-crystallinNADP-regulated thyroid-hormone binding proteinmu-crystallin homologthiomorpholine-carboxylate dehydrogenase | xylosyltransferase 1beta-D-xylosyltransferase 1peptide O-xylosyltransferase 1xylosyltransferase Ixylosyltransferase iota | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q14894 | Q86Y38 | |
Ensembl transtripts involved in fusion gene | ENST00000543948, ENST00000219599, ENST00000415987, ENST00000396023, ENST00000574787, | ENST00000261381, ENST00000568226, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
# samples | 1 | 3 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CRYM [Title/Abstract] AND XYLT1 [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 |
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-A6YR-01A | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
* 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 | ENST00000543948 | ENST00000261381 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-5UTR | ENST00000543948 | ENST00000568226 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
5UTR-3CDS | ENST00000219599 | ENST00000261381 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
5UTR-5UTR | ENST00000219599 | ENST00000568226 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-3CDS | ENST00000415987 | ENST00000261381 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-5UTR | ENST00000415987 | ENST00000568226 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-3CDS | ENST00000396023 | ENST00000261381 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-5UTR | ENST00000396023 | ENST00000568226 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-3CDS | ENST00000574787 | ENST00000261381 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
intron-5UTR | ENST00000574787 | ENST00000568226 | CRYM | chr16 | 21314299 | - | XYLT1 | chr16 | 17451907 | - |
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FusionProtFeatures for CRYM_XYLT1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CRYM | XYLT1 |
Specifically catalyzes the reduction of imine bonds inbrain substrates that may include cystathionine ketimine (CysK)and lanthionine ketimine (LK). Binds thyroid hormone which is astrong reversible inhibitor. Presumably involved in the regulationof the free intracellular concentration of triiodothyronine andaccess to its nuclear receptors. {ECO:0000269|PubMed:21332720}. | Catalyzes the first step in the biosynthesis ofchondroitin sulfate and dermatan sulfate proteoglycans, such asDCN. Transfers D-xylose from UDP-D-xylose to specific serineresidues of the core protein (PubMed:15461586, PubMed:17189265,PubMed:24581741, PubMed:23982343). Required for normal embryonicand postnatal skeleton development, especially of the long bones(PubMed:24581741, PubMed:23982343). Required for normal maturationof chondrocytes during bone development, and normal onset ofossification (By similarity). {ECO:0000250|UniProtKB:Q811B1,ECO:0000269|PubMed:15461586, ECO:0000269|PubMed:17189265,ECO:0000269|PubMed:23982343, ECO:0000269|PubMed:24581741}. |
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 CRYM_XYLT1 |
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 CRYM_XYLT1 |
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 |
CRYM | C7orf25, CDC37, TERF1, RNF126 | XYLT1 | MYC, ADH1C, MEF2A |
- 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 CRYM_XYLT1 |
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 CRYM_XYLT1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CRYM | C4084708 | DEAFNESS, AUTOSOMAL DOMINANT 40 | 1 | UNIPROT |
Tgene | XYLT1 | C4014294 | DESBUQUOIS DYSPLASIA 2 | 2 | UNIPROT |
Tgene | XYLT1 | C0033847 | Pseudoxanthoma Elasticum | 1 | CTD_human;UNIPROT |
Tgene | XYLT1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |