FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:FOXK2-SKAP1 (FusionGDB2 ID:31018)

Fusion Gene Summary for FOXK2-SKAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXK2-SKAP1
Fusion gene ID: 31018
HgeneTgene
Gene symbol

FOXK2

SKAP1

Gene ID

3607

8631

Gene nameforkhead box K2src kinase associated phosphoprotein 1
SynonymsILF|ILF-1|ILF1|nGTBPHEL-S-81p|SCAP1|SKAP55
Cytomap

17q25.3

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein K2FOXK1G/T-mismatch specific binding proteincellular transcription factor ILF-1interleukin enhancer-binding factor 1src kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa
Modification date2020031320200313
UniProtAcc

Q01167

.
Ensembl transtripts involved in fusion geneENST00000335255, ENST00000529652, 
ENST00000336915, ENST00000584924, 
Fusion gene scores* DoF score31 X 14 X 13=564224 X 12 X 10=2880
# samples 3429
** MAII scorelog2(34/5642*10)=-4.05260001444787
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/2880*10)=-3.31194400631474
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FOXK2 [Title/Abstract] AND SKAP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFOXK2(80545148)-SKAP1(46474147), # samples:3
Anticipated loss of major functional domain due to fusion event.FOXK2-SKAP1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
FOXK2-SKAP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FOXK2-SKAP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneFOXK2

GO:0045892

negative regulation of transcription, DNA-templated

20810654|25451922

HgeneFOXK2

GO:0045893

positive regulation of transcription, DNA-templated

22083952

HgeneFOXK2

GO:0045944

positive regulation of transcription by RNA polymerase II

9065434

TgeneSKAP1

GO:0002821

positive regulation of adaptive immune response

12652296

TgeneSKAP1

GO:0033625

positive regulation of integrin activation

12652296

TgeneSKAP1

GO:0034116

positive regulation of heterotypic cell-cell adhesion

12652296

TgeneSKAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11909961

TgeneSKAP1

GO:1903039

positive regulation of leukocyte cell-cell adhesion

12652296


check buttonFusion gene breakpoints across FOXK2 (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 SKAP1 (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
ChimerDB4BRCATCGA-AO-A0JG-01AFOXK2chr17

80545148

+SKAP1chr17

46474147

-
ChimerDB4BRCATCGA-AO-A0JGFOXK2chr17

80545148

+SKAP1chr17

46474147

-
ChimerDB4BRCATCGA-AO-A0JG-01AFOXK2chr17

80545148

-SKAP1chr17

46474147

-


Top

Fusion Gene ORF analysis for FOXK2-SKAP1

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
Frame-shiftENST00000335255ENST00000336915FOXK2chr17

80545148

+SKAP1chr17

46474147

-
In-frameENST00000335255ENST00000584924FOXK2chr17

80545148

+SKAP1chr17

46474147

-
intron-3CDSENST00000529652ENST00000336915FOXK2chr17

80545148

+SKAP1chr17

46474147

-
intron-3CDSENST00000529652ENST00000584924FOXK2chr17

80545148

+SKAP1chr17

46474147

-

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)
ENST00000335255FOXK2chr1780545148+ENST00000584924SKAP1chr1746474147-329219601112993960

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
ENST00000335255ENST00000584924FOXK2chr1780545148+SKAP1chr1746474147-0.0016495510.9983505

Top

Fusion Genomic Features for FOXK2-SKAP1


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.

Top

Fusion Protein Features for FOXK2-SKAP1


check button Go to

FGviewer for the breakpoints of chr17:80545148-chr17:46474147

.
- 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
FOXK2

Q01167

.
FUNCTION: Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context (PubMed:22083952, PubMed:25451922). Together with FOXK1, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2), phosphofructokinase, pyruvate kinase (PKLR) and lactate dehydrogenase), while suppressing further oxidation of pyruvate in the mitochondria by up-regulating pyruvate dehydrogenase kinases PDK1 and PDK4 (By similarity). Probably plays a role in gluconeogenesis during overnight fasting, when lactate from white adipose tissue and muscle is the main substrate (By similarity). Together with FOXK1, acts as a negative regulator of autophagy in skeletal muscle: in response to starvation, enters the nucleus, binds the promoters of autophagy genes and represses their expression, preventing proteolysis of skeletal muscle proteins (By similarity). In addition to the 5'-GTAAACA-3' DNA motif, also binds the 5'-TGANTCA-3' palindromic DNA motif, and co-associates with JUN/AP-1 to activate transcription (PubMed:22083952). Also able to bind to a minimal DNA heteroduplex containing a G/T-mismatch with 5'-TRT[G/T]NB-3' sequence (PubMed:20097901). Binds to NFAT-like motifs (purine-rich) in the IL2 promoter (PubMed:1339390). Positively regulates WNT/beta-catenin signaling by translocating DVL proteins into the nucleus (PubMed:25805136). Also binds to HIV-1 long terminal repeat. May be involved in both positive and negative regulation of important viral and cellular promoter elements (PubMed:1909027). {ECO:0000250|UniProtKB:Q3UCQ1, ECO:0000269|PubMed:1339390, ECO:0000269|PubMed:1909027, ECO:0000269|PubMed:20097901, ECO:0000269|PubMed:22083952, ECO:0000269|PubMed:25451922, ECO:0000269|PubMed:25805136}.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
HgeneFOXK2chr17:80545148chr17:46474147ENST00000335255+8910_93595.3333333333334661.0Compositional biasNote=Gly-rich
HgeneFOXK2chr17:80545148chr17:46474147ENST00000335255+89258_353595.3333333333334661.0DNA bindingFork-head
HgeneFOXK2chr17:80545148chr17:46474147ENST00000335255+8954_128595.3333333333334661.0DomainFHA
HgeneFOXK2chr17:80545148chr17:46474147ENST00000335255+89300_318595.3333333333334661.0RegionDNA-binding%3B major groove
HgeneFOXK2chr17:80545148chr17:46474147ENST00000335255+89328_332595.3333333333334661.0RegionDNA-binding%3B minor groove
HgeneFOXK2chr17:80545148chr17:46474147ENST00000335255+89348_353595.3333333333334661.0RegionDNA-binding%3B minor groove
TgeneSKAP1chr17:80545148chr17:46474147ENST00000336915013220_23015.333333333333334448.0Compositional biasNote=Poly-Glu
TgeneSKAP1chr17:80545148chr17:46474147ENST00000584924012220_23015.333333333333334360.0Compositional biasNote=Poly-Glu
TgeneSKAP1chr17:80545148chr17:46474147ENST00000336915013107_21015.333333333333334448.0DomainPH
TgeneSKAP1chr17:80545148chr17:46474147ENST00000336915013294_35515.333333333333334448.0DomainSH3
TgeneSKAP1chr17:80545148chr17:46474147ENST00000584924012107_21015.333333333333334360.0DomainPH
TgeneSKAP1chr17:80545148chr17:46474147ENST00000584924012294_35515.333333333333334360.0DomainSH3

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


Top

Fusion Gene Sequence for FOXK2-SKAP1


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.
>In-frame_ENST00000335255_ENST00000584924_TCGA-AO-A0JG-01A_FOXK2_chr17_80545148_+_SKAP1_chr17_46474147_length(transcript)=3292nt_BP=1960nt
CGGCCGCGCGTGCTCCCGCCCCTCGCCGCCGCTCGCTCGCTCGCCGGCCGGCGGCCTCCGCTCGGCCCCCTCCCTCAGCTCCGGTGCGCG
GCGGCCGACGACCCGCGCGGCCTGGGCCTCGGCCCGCGCCACCGGCGCCCGCGCGGAGCGGCCCGGGGGCCCTCACGCAGGCCCATGGCG
GCGGCCGCGGCGGCGCTCTCGGGCGCGGGCACGCCACCCGCGGGCGGCGGGGCCGGGGGCGGCGGGGCCGGGGGCGGCGGGTCCCCGCCG
GGCGGCTGGGCCGTGGCGCGCCTGGAGGGCCGCGAGTTCGAGTATCTGATGAAGAAGCGCTCGGTGACCATCGGCCGCAACTCGTCGCAG
GGCTCGGTGGACGTGAGCATGGGCCACTCGAGCTTCATCTCCCGGCGCCACCTCGAGATCTTCACGCCCCCGGGCGGCGGCGGCCATGGC
GGGGCCGCTCCGGAGCTGCCGCCCGCGCAGCCCAGGCCCGACGCCGGCGGCGACTTCTACCTGCGCTGCTTGGGCAAGAACGGGGTATTC
GTGGACGGCGTGTTCCAGAGGCGCGGGGCGCCGCCGCTGCAGCTGCCGCGCGTGTGCACATTCAGGTTCCCGAGCACAAACATCAAGATA
ACGTTCACTGCCCTGTCCAGCGAGAAGAGAGAGAAGCAGGAGGCGTCTGAGTCTCCAGTGAAGGCCGTACAGCCACACATCTCGCCCCTG
ACCATCAACATTCCAGACACCATGGCCCACCTCATCAGCCCTCTGCCCTCCCCCACGGGAACCATCAGCGCTGCAAACTCCTGCCCCTCC
AGCCCCCGGGGAGCGGGGTCTTCAGGGTACAAGGTGGGCCGAGTGATGCCATCTGACCTCAATTTAATGGCTGACAACTCACAGCCTGAA
AATGAAAAGGAAGCTTCAGGTGGAGACAGCCCGAAGGATGATTCAAAGCCGCCTTACTCCTACGCGCAGCTGATAGTTCAGGCGATTACG
ATGGCTCCCGACAAACAGCTCACCCTGAACGGGATTTATACACACATCACTAAAAATTATCCCTACTACAGGACTGCGGACAAGGGCTGG
CAGAATTCAATTCGCCACAATCTCTCTCTGAATCGTTATTTCATCAAAGTGCCGCGTTCCCAGGAAGAACCAGGCAAAGGCTCGTTCTGG
AGGATAGACCCAGCCTCTGAAAGCAAATTAATAGAACAGGCTTTTAGGAAACGACGGCCTAGGGGCGTGCCCTGCTTTAGAACCCCTCTG
GGACCGCTCTCTTCTAGGAGTGCCCCAGCCTCTCCCAATCACGCGGGAGTGCTGTCTGCTCACTCTAGTGGCGCCCAGACCCCTGAGAGC
CTGTCGAGGGAAGGTTCGCCGGCCCCCCTGGAGCCTGAGCCTGGCGCTGCACAGCCCAAACTCGCTGTCATCCAGGAAGCCCGGTTTGCC
CAGAGCGCCCCAGGGTCACCTCTGTCCAGTCAGCCAGTCTTAATCACCGTCCAGCGGCAGCTACCACAGGCCATCAAGCCTGTCACCTAC
ACTGTGGCCACCCCAGTGACCACCTCGACCTCCCAGCCACCCGTCGTGCAGACGGTTCACGTCGTCCACCAGATCCCAGCGGTGTCGGTC
ACCAGTGTGGCCGGACTGGCCCCAGCGAACACGTACACTGTCTCTGGACAAGCTGTGGTCACCCCGGCAGCCGTGCTGGCCCCTCCTAAG
GCAGAGGCCCAGGAGAATGGAGACCACAGGGAAGTCAAAGTGAAAGTAGAGCCTATTCCCGCCATTGGCCACGCCACGCTCGGCACTGCC
AGCCGGATCATTCAGACGGCACAGACCACCCCGGTCCAGACGGTGACCATAGTACAACAGGCACCTCTAGGTCAACACCAGCTACCAATA
AAAACTGTAACACAAAACGGCACTCACGTGGCATCAGTCCCCACTGCGGTCCACGGCCAGGTGAACAATGATGCTGAAGAGTTTCTGGCA
GAAGGTTTGCGGAATGAGAACCTCAGCGCTGTTGCAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTAC
TATTGGGATTTTCAGCCCCAAGGGGGAGACATTGGACAGGACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCC
GATGCACCCTTTTTGTCAGATTATCAGGATGAGGGAATGGAAGACATCGTAAAAGGAGCTCAAGAACTTGATAACGTAATCAAGCAAGGA
TACTTGGAGAAGAAAAGCAAAGATCATAGTTTCTTTGGATCGGAGTGGCAGAAGCGATGGTGTGTTGTCAGCAGAGGTCTCTTCTACTAC
TATGCTAATGAGAAGAGCAAGCAGCCCAAAGGGACCTTCCTCATTAAGGGCTACGGTGTACGGATGGCCCCCCACCTGCGAAGAGATTCC
AAGAAAGAATCCTGCTTTGAACTGACCTCCCAGGATAGGCGCAGCTATGAGTTTACAGCTACTAGTCCAGCAGAAGCCAGAGACTGGGTG
GATCAAATAAGTTTCTTGTTAAAGGATCTGAGCTCCTTAACCATTCCATATGAAGAGGATGAGGAGGAAGAAGAAAAAGAAGAGACATAT
GATGATATTGATGGTTTTGACTCCCCAAGTTGTGGTTCCCAGTGCAGACCCACTATCTTGCCTGGGAGTGTGGGGATAAAAGAGCCTACA
GAGGAGAAAGAAGAAGAAGATATTTATGAAGTCTTGCCAGATGAAGAGCATGATCTAGAAGAGGATGAGAGTGGCACTCGACGAAAAGGA
GTAGACTATGCCAGTTACTACCAGGGCCTATGGGATTGCCATGGTGACCAGCCAGATGAACTGTCCTTCCAACGGGGTGACCTCATCCGT
ATTCTGAGCAAGGAGTATAACATGTATGGCTGGTGGGTGGGAGAACTGAACAGCCTCGTTGGGATTGTTCCAAAGGAGTATCTCACCACT
GCCTTTGAAGTGGAAGAAAGATGAAACCCAGGTATCAGAACCATGGCCAATGAACTGCCTAATAGTTGAGTGGAACTTGTGGGCCACTAC
TTTGTTTCTCTGAAAGATGAGAGTTGCCAGTGAAGTAGCTTTTCTTCATTTCTCATACTAATGCTAGTGATTCACCACTGATGGAAAGAA
AATGCCTCTGGAATTGTTTTTTTCTTAAATTTGGGGACAGTGTCACTTAGGATAAGGTTCAACTAATAGCAACATAAAATCTAAACTAAA

>In-frame_ENST00000335255_ENST00000584924_TCGA-AO-A0JG-01A_FOXK2_chr17_80545148_+_SKAP1_chr17_46474147_length(amino acids)=960AA_start in transcript=111_stop in transcript=2993
MGLGPRHRRPRGAARGPSRRPMAAAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGREFEYLMKKRSVTIGRNSSQGSVDVSM
GHSSFISRRHLEIFTPPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNGVFVDGVFQRRGAPPLQLPRVCTFRFPSTNIKITFTALSS
EKREKQEASESPVKAVQPHISPLTINIPDTMAHLISPLPSPTGTISAANSCPSSPRGAGSSGYKVGRVMPSDLNLMADNSQPENEKEASG
GDSPKDDSKPPYSYAQLIVQAITMAPDKQLTLNGIYTHITKNYPYYRTADKGWQNSIRHNLSLNRYFIKVPRSQEEPGKGSFWRIDPASE
SKLIEQAFRKRRPRGVPCFRTPLGPLSSRSAPASPNHAGVLSAHSSGAQTPESLSREGSPAPLEPEPGAAQPKLAVIQEARFAQSAPGSP
LSSQPVLITVQRQLPQAIKPVTYTVATPVTTSTSQPPVVQTVHVVHQIPAVSVTSVAGLAPANTYTVSGQAVVTPAAVLAPPKAEAQENG
DHREVKVKVEPIPAIGHATLGTASRIIQTAQTTPVQTVTIVQQAPLGQHQLPIKTVTQNGTHVASVPTAVHGQVNNDAEEFLAEGLRNEN
LSAVARDHRDHILRGFQQIKARYYWDFQPQGGDIGQDSSDDNHSGTLGLSLTSDAPFLSDYQDEGMEDIVKGAQELDNVIKQGYLEKKSK
DHSFFGSEWQKRWCVVSRGLFYYYANEKSKQPKGTFLIKGYGVRMAPHLRRDSKKESCFELTSQDRRSYEFTATSPAEARDWVDQISFLL
KDLSSLTIPYEEDEEEEEKEETYDDIDGFDSPSCGSQCRPTILPGSVGIKEPTEEKEEEDIYEVLPDEEHDLEEDESGTRRKGVDYASYY

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for FOXK2-SKAP1


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
TgeneSKAP1chr17:80545148chr17:46474147ENST00000336915013290_29515.333333333333334448.0FYB1
TgeneSKAP1chr17:80545148chr17:46474147ENST00000584924012290_29515.333333333333334360.0FYB1


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


Top

Related Drugs for FOXK2-SKAP1


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

Top

Related Diseases for FOXK2-SKAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSKAP1C0919267ovarian neoplasm1CTD_human
TgeneSKAP1C1140680Malignant neoplasm of ovary1CTD_human