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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:ALDOA-KRT5 (FusionGDB2 ID:HG226TG3852)

Fusion Gene Summary for ALDOA-KRT5

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDOA-KRT5
Fusion gene ID: hg226tg3852
HgeneTgene
Gene symbol

ALDOA

KRT5

Gene ID

226

3852

Gene namealdolase, fructose-bisphosphate Akeratin 5
SynonymsALDA|GSD12|HEL-S-87pCK5|DDD|DDD1|EBS2|K5|KRT5A
Cytomap('ALDOA')('KRT5')

16p11.2

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionfructose-bisphosphate aldolase Aaldolase A, fructose-bisphosphateepididymis secretory sperm binding protein Li 87pfructose-1,6-bisphosphate triosephosphate-lyaselung cancer antigen NY-LU-1muscle-type aldolasekeratin, 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 geneENST00000395240, ENST00000564546, 
ENST00000564595, ENST00000569545, 
ENST00000569798, ENST00000338110, 
ENST00000395248, ENST00000412304, 
ENST00000563060, ENST00000566897, 
ENST00000575627, 		ENST00000338110, 
ENST00000395248, ENST00000395240, 
ENST00000412304, ENST00000563060, 
ENST00000564546, ENST00000564595, 
ENST00000566897, ENST00000569545, 
ENST00000569798, ENST00000575627, 
Fusion gene scores* DoF score37 X 23 X 12=1021213 X 16 X 3=624
# samples 4215
** MAII scorelog2(42/10212*10)=-4.603732304741
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/624*10)=-2.05658352836637
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointALDOA(30077248)-KRT5(52914092), # 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
HgeneALDOA

GO:0008360

regulation of cell shape

9244396

HgeneALDOA

GO:0030388

fructose 1,6-bisphosphate metabolic process

9244396|14766013



check button Fusion gene information
* 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-CR-7365ALDOAchr16

30077248

+KRT5chr12

52914092

-


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Fusion Gene ORF analysis for ALDOA-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
5UTR-5UTRENST00000395240ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
5UTR-5UTRENST00000564546ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
5UTR-5UTRENST00000564595ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
5UTR-5UTRENST00000569545ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
5UTR-5UTRENST00000569798ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
intron-5UTRENST00000338110ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
intron-5UTRENST00000395248ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
intron-5UTRENST00000412304ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
intron-5UTRENST00000563060ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
intron-5UTRENST00000566897ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-
intron-5UTRENST00000575627ENST00000252242ALDOAchr16

30077248

+KRT5chr12

52914092

-

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 ALDOA-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)


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Fusion Protein Features for ALDOA-KRT5


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/:30077248/:52914092)
- 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 ALDOA-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 ALDOA-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 ALDOA-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 ALDOA-KRT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDOAC0272066Glycogen Storage Disease XII7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneALDOAC0017919Glycogen Storage Disease3GENOMICS_ENGLAND
HgeneALDOAC0520572Enzymopathy2GENOMICS_ENGLAND
HgeneALDOAC0006142Malignant neoplasm of breast1CTD_human
HgeneALDOAC0027626Neoplasm Invasiveness1CTD_human
HgeneALDOAC0027627Neoplasm Metastasis1CTD_human
HgeneALDOAC0151744Myocardial Ischemia1CTD_human
HgeneALDOAC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneALDOAC0678222Breast Carcinoma1CTD_human
HgeneALDOAC1257931Mammary Neoplasms, Human1CTD_human
HgeneALDOAC1458155Mammary Neoplasms1CTD_human
HgeneALDOAC4704874Mammary Carcinoma, Human1CTD_human
TgeneC0080333Weber-Cockayne Syndrome15CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0079295Epidermolysis Bullosa Herpetiformis Dowling-Meara10CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0079299Epidermolysis Bullosa Simplex Kobner7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0432316Epidermolysis bullosa simplex with mottled pigmentation4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1368275Pigmented Basal Cell Carcinoma2CTD_human
TgeneC4721806Carcinoma, Basal Cell2CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0014527Epidermolysis Bullosa1GENOMICS_ENGLAND
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0036095Salivary Gland Neoplasms1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0220636Malignant neoplasm of salivary gland1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1836284Epidermolysis Bullosa Simplex with Migratory Circinate Erythema1CTD_human;ORPHANET
TgeneC3714534dowling-degos disease1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3715082EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 11UNIPROT
TgeneC4552092Dowling-Degos disease 11CTD_human;GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human