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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: 26594

FusionGeneSummary for PDXK_LCA5L

check button Fusion gene summary
Fusion gene informationFusion gene name: PDXK_LCA5L
Fusion gene ID: 26594
HgeneTgene
Gene symbol

PDXK

LCA5L

Gene ID

8566

150082

Gene namepyridoxal kinaseLCA5L, lebercilin like
SynonymsC21orf124|C21orf97|HEL-S-1a|PKH|PNK|PRED79C21orf13
Cytomap

21q22.3

21q22.2

Type of geneprotein-codingprotein-coding
Descriptionpyridoxal kinaseepididymis secretory sperm binding protein Li 1apyridoxal (pyridoxine, vitamin B6) kinasepyridoxamine kinasepyridoxine kinasevitamin B6 kinaselebercilin-like proteinleber congenital amaurosis 5-like protein
Modification date2018052320180523
UniProtAcc

O00764

O95447

Ensembl transtripts involved in fusion geneENST00000398081, ENST00000468090, 
ENST00000291565, ENST00000327574, 
ENST00000476313, ENST00000467908, 
ENST00000380671, ENST00000288350, 
ENST00000358268, ENST00000495240, 
ENST00000485895, 
Fusion gene scores* DoF score7 X 7 X 8=3922 X 1 X 2=4
# samples 82
** MAII scorelog2(8/392*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: PDXK [Title/Abstract] AND LCA5L [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
HgenePDXK

GO:0008283

cell proliferation

10930737

HgenePDXK

GO:0042823

pyridoxal phosphate biosynthetic process

9099727|10987144|17766369


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
TCGARVLUADTCGA-05-4397-01APDXKchr21

45168961

+LCA5Lchr21

40801137

-
* 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-5UTRENST00000398081ENST00000380671PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000398081ENST00000288350PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000398081ENST00000358268PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-intronENST00000398081ENST00000495240PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000398081ENST00000485895PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000468090ENST00000380671PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000468090ENST00000288350PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000468090ENST00000358268PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-intronENST00000468090ENST00000495240PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000468090ENST00000485895PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000291565ENST00000380671PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000291565ENST00000288350PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000291565ENST00000358268PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-intronENST00000291565ENST00000495240PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000291565ENST00000485895PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000327574ENST00000380671PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000327574ENST00000288350PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000327574ENST00000358268PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-intronENST00000327574ENST00000495240PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000327574ENST00000485895PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000476313ENST00000380671PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000476313ENST00000288350PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000476313ENST00000358268PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-intronENST00000476313ENST00000495240PDXKchr21

45168961

+LCA5Lchr21

40801137

-
intron-5UTRENST00000476313ENST00000485895PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000467908ENST00000380671PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000467908ENST00000288350PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000467908ENST00000358268PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-intronENST00000467908ENST00000495240PDXKchr21

45168961

+LCA5Lchr21

40801137

-
5CDS-5UTRENST00000467908ENST00000485895PDXKchr21

45168961

+LCA5Lchr21

40801137

-

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FusionProtFeatures for PDXK_LCA5L


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

O00764

LCA5L

O95447

Required for synthesis of pyridoxal-5-phosphate fromvitamin B6.

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 PDXK_LCA5L


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 PDXK_LCA5L


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
PDXKELAVL1, CUL3, CUL1, COPS5, CAND1, BARD1, YWHAQ, MOV10, NXF1, ABAT, OGT, EIF4E, EZR, G6PD, HIBADH, HYI, ITPA, MDH1, OAT, SNX2, SOD1, RABIF, TPI1, ATOH1LCA5LSUV39H2, TPM3, NMI, TFIP11, ZDHHC17, EGFR, PCM1


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 PDXK_LCA5L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePDXKO00764DB00165PyridoxinePyridoxal kinasesmall moleculeapproved|investigational|nutraceutical|vet_approved

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RelatedDiseases for PDXK_LCA5L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDXKC0038220Status Epilepticus1CTD_human