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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 8564

FusionGeneSummary for CRYM_XYLT1

check button Fusion gene summary
Fusion gene informationFusion gene name: CRYM_XYLT1
Fusion gene ID: 8564
HgeneTgene
Gene symbol

CRYM

XYLT1

Gene ID

1428

64131

Gene namecrystallin muxylosyltransferase 1
SynonymsDFNA40|THBPDBQD2|PXYLT1|XT-I|XT1|XTI|XYLTI|xylT-I
Cytomap

16p12.2

16p12.3

Type of geneprotein-codingprotein-coding
Descriptionketimine reductase mu-crystallinNADP-regulated thyroid-hormone binding proteinmu-crystallin homologthiomorpholine-carboxylate dehydrogenasexylosyltransferase 1beta-D-xylosyltransferase 1peptide O-xylosyltransferase 1xylosyltransferase Ixylosyltransferase iota
Modification date2018052320180519
UniProtAcc

Q14894

Q86Y38

Ensembl transtripts involved in fusion geneENST00000543948, ENST00000219599, 
ENST00000415987, ENST00000396023, 
ENST00000574787, 
ENST00000261381, 
ENST00000568226, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-DX-A6YR-01ACRYMchr16

21314299

-XYLT1chr16

17451907

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000543948ENST00000261381CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-5UTRENST00000543948ENST00000568226CRYMchr16

21314299

-XYLT1chr16

17451907

-
5UTR-3CDSENST00000219599ENST00000261381CRYMchr16

21314299

-XYLT1chr16

17451907

-
5UTR-5UTRENST00000219599ENST00000568226CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-3CDSENST00000415987ENST00000261381CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-5UTRENST00000415987ENST00000568226CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-3CDSENST00000396023ENST00000261381CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-5UTRENST00000396023ENST00000568226CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-3CDSENST00000574787ENST00000261381CRYMchr16

21314299

-XYLT1chr16

17451907

-
intron-5UTRENST00000574787ENST00000568226CRYMchr16

21314299

-XYLT1chr16

17451907

-

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FusionProtFeatures for CRYM_XYLT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CRYM

Q14894

XYLT1

Q86Y38

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CRYM_XYLT1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CRYMC7orf25, CDC37, TERF1, RNF126XYLT1MYC, ADH1C, MEF2A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CRYM_XYLT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CRYM_XYLT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCRYMC4084708DEAFNESS, AUTOSOMAL DOMINANT 401UNIPROT
TgeneXYLT1C4014294DESBUQUOIS DYSPLASIA 22UNIPROT
TgeneXYLT1C0033847Pseudoxanthoma Elasticum1CTD_human;UNIPROT
TgeneXYLT1C0236969Substance-Related Disorders1CTD_human