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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: 13569

FusionGeneSummary for FLNA_UHMK1

check button Fusion gene summary
Fusion gene informationFusion gene name: FLNA_UHMK1
Fusion gene ID: 13569
HgeneTgene
Gene symbol

FLNA

UHMK1

Gene ID

2316

127933

Gene namefilamin AU2AF homology motif kinase 1
SynonymsABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVDKIS|KIST|P-CIP2
Cytomap

Xq28

1q23.3

Type of geneprotein-codingprotein-coding
Descriptionfilamin-Aactin binding protein 280alpha-filaminendothelial actin-binding proteinfilamin A, alphafilamin-1non-muscle filaminserine/threonine-protein kinase KistKIS protein kinasePAM COOH-terminal interactor protein 2U2AF homology motif (UHM) kinase 1kinase interacting with leukemia-associated gene (stathmin)
Modification date2018052320180523
UniProtAcc

P21333

Q8TAS1

Ensembl transtripts involved in fusion geneENST00000360319, ENST00000422373, 
ENST00000369850, ENST00000369856, 
ENST00000344736, ENST00000498491, 
ENST00000545294, ENST00000538489, 
ENST00000489294, ENST00000282169, 
Fusion gene scores* DoF score18 X 21 X 7=26463 X 3 X 1=9
# samples 253
** MAII scorelog2(25/2646*10)=-3.40381306161659
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FLNA [Title/Abstract] AND UHMK1 [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
HgeneFLNA

GO:0016479

negative regulation of transcription by RNA polymerase I

22307607

HgeneFLNA

GO:0030334

regulation of cell migration

16291724

HgeneFLNA

GO:0031532

actin cytoskeleton reorganization

10051605

HgeneFLNA

GO:0034394

protein localization to cell surface

18322202

HgeneFLNA

GO:0043113

receptor clustering

10692483

HgeneFLNA

GO:0043433

negative regulation of DNA binding transcription factor activity

15684392

HgeneFLNA

GO:0044319

wound healing, spreading of cells

16291724

HgeneFLNA

GO:0045184

establishment of protein localization

18322202

HgeneFLNA

GO:0051764

actin crosslink formation

10051605

HgeneFLNA

GO:0072659

protein localization to plasma membrane

24951510

HgeneFLNA

GO:0090307

mitotic spindle assembly

18548008

HgeneFLNA

GO:1901381

positive regulation of potassium ion transmembrane transport

24951510

TgeneUHMK1

GO:0018105

peptidyl-serine phosphorylation

12093740

TgeneUHMK1

GO:0046777

protein autophosphorylation

12093740

TgeneUHMK1

GO:0046825

regulation of protein export from nucleus

12093740


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
ChiTaRS3.1CN332843FLNAchrX

153588227

-UHMK1chr1

162499085

+
* 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-intronENST00000360319ENST00000545294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000360319ENST00000538489FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000360319ENST00000489294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000360319ENST00000282169FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000422373ENST00000545294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000422373ENST00000538489FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000422373ENST00000489294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000422373ENST00000282169FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000369850ENST00000545294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000369850ENST00000538489FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000369850ENST00000489294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000369850ENST00000282169FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000369856ENST00000545294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000369856ENST00000538489FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000369856ENST00000489294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000369856ENST00000282169FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000344736ENST00000545294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000344736ENST00000538489FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000344736ENST00000489294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000344736ENST00000282169FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000498491ENST00000545294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000498491ENST00000538489FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-3UTRENST00000498491ENST00000489294FLNAchrX

153588227

-UHMK1chr1

162499085

+
intron-intronENST00000498491ENST00000282169FLNAchrX

153588227

-UHMK1chr1

162499085

+

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FusionProtFeatures for FLNA_UHMK1


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

P21333

UHMK1

Q8TAS1

Promotes orthogonal branching of actin filaments andlinks actin filaments to membrane glycoproteins. Anchors varioustransmembrane proteins to the actin cytoskeleton and serves as ascaffold for a wide range of cytoplasmic signaling proteins.Interaction with FLNA may allow neuroblast migration from theventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directsits intracellular trafficking (By similarity). Involved inciliogenesis. Plays a role in cell-cell contacts and adherensjunctions during the development of blood vessels, heart and brainorgans. Plays a role in platelets morphology through interactionwith SYK that regulates ITAM- and ITAM-like-containing receptorsignaling, resulting in by platelet cytoskeleton organizationmaintenance (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:Q8BTM8, ECO:0000269|PubMed:22121117}. Upon serum stimulation, phosphorylates CDKN1B/p27Kip1,thus controlling CDKN1B subcellular location and cell cycleprogression in G1 phase. May be involved in trafficking and/orprocessing of RNA (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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FusionGeneSequence for FLNA_UHMK1


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 FLNA_UHMK1


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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RelatedDrugs for FLNA_UHMK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFLNAP21333DB11638ArtenimolFilamin-Asmall moleculeapproved|investigational

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RelatedDiseases for FLNA_UHMK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFLNAC1848213Periventricular Heterotopia, X-Linked6UNIPROT
HgeneFLNAC0265251Oto-Palato-digital syndrome type 14CTD_human;ORPHANET;UNIPROT
HgeneFLNAC0265293Frontometaphyseal dysplasia4CTD_human;ORPHANET;UNIPROT
HgeneFLNAC1844696OTOPALATODIGITAL SYNDROME, TYPE II4CTD_human;ORPHANET;UNIPROT
HgeneFLNAC0025237Melnick-Needles Syndrome3ORPHANET;UNIPROT
HgeneFLNAC1868720Periventricular Nodular Heterotopia2CTD_human;ORPHANET
HgeneFLNAC0010701Phyllodes Tumor1CTD_human
HgeneFLNAC0014544Epilepsy1CTD_human;HPO
HgeneFLNAC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneFLNAC0029422Osteochondrodysplasias1CTD_human;HPO
HgeneFLNAC0220769FG syndrome1CTD_human
HgeneFLNAC0262436Cardiac valvular dysplasia, X-linked1CTD_human;UNIPROT
HgeneFLNAC1458155Mammary Neoplasms1CTD_human
HgeneFLNAC1845235Heterotopia, Periventricular, Ehlers-Danlos Variant1CTD_human
HgeneFLNAC1845902FG SYNDROME 21UNIPROT
TgeneUHMK1C0036341Schizophrenia4PSYGENET
TgeneUHMK1C0005586Bipolar Disorder1PSYGENET