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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:KRT5-SAT1 (FusionGDB2 ID:HG3852TG6303)

Fusion Gene Summary for KRT5-SAT1

check button Fusion gene summary
Fusion gene informationFusion gene name: KRT5-SAT1
Fusion gene ID: hg3852tg6303
HgeneTgene
Gene symbol

KRT5

SAT1

Gene ID

3852

6303

Gene namekeratin 5spermidine/spermine N1-acetyltransferase 1
SynonymsCK5|DDD|DDD1|EBS2|K5|KRT5ADC21|KFSD|KFSDX|SAT|SSAT|SSAT-1
Cytomap('KRT5')('SAT1')

12q13.13

Xp22.11

Type of geneprotein-codingprotein-coding
Descriptionkeratin, 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-IIdiamine acetyltransferase 1diamine N-acetyltransferase 1epididymis secretory sperm binding proteinpolyamine N-acetyltransferase 1putrescine acetyltransferasespermidine/spermine N1-acetyltransferase alpha
Modification date2020031320200327
UniProtAcc

P13647

.
Ensembl transtripts involved in fusion geneENST00000252242, 
Fusion gene scores* DoF score28 X 25 X 5=350012 X 14 X 7=1176
# samples 3017
** MAII scorelog2(30/3500*10)=-3.54432051622381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1176*10)=-2.79028140869866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KRT5 [Title/Abstract] AND SAT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKRT5(52911374)-SAT1(23803445), # 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


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
ChimerDB4BLCATCGA-BT-A3PJ-01AKRT5chr12

52911374

-SAT1chrX

23803445

+


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Fusion Gene ORF analysis for KRT5-SAT1

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
5CDS-3UTRENST00000252242ENST00000489394KRT5chr12

52911374

-SAT1chrX

23803445

+
5CDS-intronENST00000252242ENST00000379251KRT5chr12

52911374

-SAT1chrX

23803445

+
5CDS-intronENST00000252242ENST00000379253KRT5chr12

52911374

-SAT1chrX

23803445

+
5CDS-intronENST00000252242ENST00000379254KRT5chr12

52911374

-SAT1chrX

23803445

+
5CDS-intronENST00000252242ENST00000379270KRT5chr12

52911374

-SAT1chrX

23803445

+

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 KRT5-SAT1


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)
KRT5chr1252911373-SAT1chrX23803444+0.0059248870.99407506
KRT5chr1252911373-SAT1chrX23803444+0.0059248870.99407506


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.
genomic feature of top 1%

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Fusion Protein Features for KRT5-SAT1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52911374/:23803445)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P13647

.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 KRT5-SAT1


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 KRT5-SAT1


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 KRT5-SAT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKRT5P13647DB01593ZincSmall moleculeApproved|Investigational
HgeneKRT5P13647DB14487Zinc acetateSmall moleculeApproved|Investigational

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Related Diseases for KRT5-SAT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKRT5C0080333Weber-Cockayne Syndrome15CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKRT5C0079295Epidermolysis Bullosa Herpetiformis Dowling-Meara10CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKRT5C0079299Epidermolysis Bullosa Simplex Kobner7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKRT5C0432316Epidermolysis bullosa simplex with mottled pigmentation4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKRT5C1368275Pigmented Basal Cell Carcinoma2CTD_human
HgeneKRT5C4721806Carcinoma, Basal Cell2CTD_human
HgeneKRT5C0006142Malignant neoplasm of breast1CTD_human
HgeneKRT5C0007097Carcinoma1CTD_human
HgeneKRT5C0007621Neoplastic Cell Transformation1CTD_human
HgeneKRT5C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneKRT5C0014527Epidermolysis Bullosa1GENOMICS_ENGLAND
HgeneKRT5C0024667Animal Mammary Neoplasms1CTD_human
HgeneKRT5C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneKRT5C0036095Salivary Gland Neoplasms1CTD_human
HgeneKRT5C0205696Anaplastic carcinoma1CTD_human
HgeneKRT5C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneKRT5C0205698Undifferentiated carcinoma1CTD_human
HgeneKRT5C0205699Carcinomatosis1CTD_human
HgeneKRT5C0220636Malignant neoplasm of salivary gland1CTD_human
HgeneKRT5C0678222Breast Carcinoma1CTD_human
HgeneKRT5C1257925Mammary Carcinoma, Animal1CTD_human
HgeneKRT5C1257931Mammary Neoplasms, Human1CTD_human
HgeneKRT5C1458155Mammary Neoplasms1CTD_human
HgeneKRT5C1836284Epidermolysis Bullosa Simplex with Migratory Circinate Erythema1CTD_human;ORPHANET
HgeneKRT5C3714534dowling-degos disease1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneKRT5C3715082EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 11UNIPROT
HgeneKRT5C4552092Dowling-Degos disease 11CTD_human;GENOMICS_ENGLAND
HgeneKRT5C4704874Mammary Carcinoma, Human1CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0001956Alcohol Use Disorder1PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0028754Obesity1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0036337Schizoaffective Disorder1PSYGENET
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0162820Dermatitis, Allergic Contact1CTD_human
TgeneC0343057Keratosis pilaris decalvans1ORPHANET
TgeneC0349204Nonorganic psychosis1PSYGENET
TgeneC0525045Mood Disorders1PSYGENET
TgeneC1269683Major Depressive Disorder1PSYGENET