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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:LYNX1-KRT5 (FusionGDB2 ID:50198)

Fusion Gene Summary for LYNX1-KRT5

check button Fusion gene summary
Fusion gene informationFusion gene name: LYNX1-KRT5
Fusion gene ID: 50198
HgeneTgene
Gene symbol

LYNX1

KRT5

Gene ID

66004

3852

Gene nameLy6/neurotoxin 1keratin 5
Synonyms-CK5|DDD|DDD1|EBS2|K5|KRT5A
Cytomap

8q24.3

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionly-6/neurotoxin-like protein 1Ly-6 neurotoxin-like protein 1endogenous prototoxin LYNX1testicular tissue protein Li 112keratin, type II cytoskeletal 558 kda cytokeratinCK-5cytokeratin-5epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne typeskeratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)keratin 5, type IItype-II
Modification date2020031320200313
UniProtAcc.

P13647

Ensembl transtripts involved in fusion geneENST00000523332, ENST00000317543, 
ENST00000335822, ENST00000398906, 
ENST00000395192, ENST00000345173, 
ENST00000522906, 
ENST00000252242, 
Fusion gene scores* DoF score1 X 1 X 1=113 X 16 X 3=624
# samples 115
** MAII scorelog2(1/1*10)=3.32192809488736log2(15/624*10)=-2.05658352836637
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LYNX1 [Title/Abstract] AND KRT5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLYNX1(143855734)-KRT5(52911018), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneLYNX1

GO:0099601

regulation of neurotransmitter receptor activity

21252236


check buttonFusion gene breakpoints across LYNX1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KRT5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-CV-7427LYNX1chr8

143855734

-KRT5chr12

52911018

-


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Fusion Gene ORF analysis for LYNX1-KRT5

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-3CDSENST00000523332ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-
intron-3CDSENST00000317543ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-
intron-3CDSENST00000335822ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-
intron-3CDSENST00000398906ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-
intron-3CDSENST00000395192ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-
intron-3CDSENST00000345173ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-
intron-3CDSENST00000522906ENST00000252242LYNX1chr8

143855734

-KRT5chr12

52911018

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for LYNX1-KRT5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for LYNX1-KRT5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KRT5

P13647

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for LYNX1-KRT5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for LYNX1-KRT5


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


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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Related Drugs for LYNX1-KRT5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKRT5P13647DB01593ZincSmall moleculeApproved|Investigational
TgeneKRT5P13647DB14487Zinc acetateSmall moleculeApproved|Investigational

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Related Diseases for LYNX1-KRT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKRT5C0080333Weber-Cockayne Syndrome15CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneKRT5C0079295Epidermolysis Bullosa Herpetiformis Dowling-Meara10CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneKRT5C0079299Epidermolysis Bullosa Simplex Kobner7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneKRT5C0432316Epidermolysis bullosa simplex with mottled pigmentation4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneKRT5C1368275Pigmented Basal Cell Carcinoma2CTD_human
TgeneKRT5C4721806Carcinoma, Basal Cell2CTD_human
TgeneKRT5C0006142Malignant neoplasm of breast1CTD_human
TgeneKRT5C0007097Carcinoma1CTD_human
TgeneKRT5C0007621Neoplastic Cell Transformation1CTD_human
TgeneKRT5C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneKRT5C0014527Epidermolysis Bullosa1GENOMICS_ENGLAND
TgeneKRT5C0024667Animal Mammary Neoplasms1CTD_human
TgeneKRT5C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneKRT5C0036095Salivary Gland Neoplasms1CTD_human
TgeneKRT5C0205696Anaplastic carcinoma1CTD_human
TgeneKRT5C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneKRT5C0205698Undifferentiated carcinoma1CTD_human
TgeneKRT5C0205699Carcinomatosis1CTD_human
TgeneKRT5C0220636Malignant neoplasm of salivary gland1CTD_human
TgeneKRT5C0678222Breast Carcinoma1CTD_human
TgeneKRT5C1257925Mammary Carcinoma, Animal1CTD_human
TgeneKRT5C1257931Mammary Neoplasms, Human1CTD_human
TgeneKRT5C1458155Mammary Neoplasms1CTD_human
TgeneKRT5C1836284Epidermolysis Bullosa Simplex with Migratory Circinate Erythema1CTD_human;ORPHANET
TgeneKRT5C3714534dowling-degos disease1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneKRT5C3715082EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 11UNIPROT
TgeneKRT5C4552092Dowling-Degos disease 11CTD_human;GENOMICS_ENGLAND
TgeneKRT5C4704874Mammary Carcinoma, Human1CTD_human