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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for FLNA

check button Gene summary
Gene informationGene symbol

FLNA

Gene ID

2316

Gene namefilamin A
SynonymsABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD
Cytomap

Xq28

Type of geneprotein-coding
Descriptionfilamin-Aactin binding protein 280alpha-filaminendothelial actin-binding proteinepididymis secretory sperm binding proteinfilamin A, alphafilamin-1non-muscle filamin
Modification date20200313
UniProtAcc

A0A087WWY3,

A6NDY9,

F8WE98,

H0Y5C6,

H0Y5F3,

H7C2E7,

P21333,

Q2VP91,

Q60FE5,

Q60FE6,

Q6NXF2,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
FLNA

GO:0016479

negative regulation of transcription by RNA polymerase I

22307607

FLNA

GO:0030334

regulation of cell migration

16291724

FLNA

GO:0031532

actin cytoskeleton reorganization

10051605

FLNA

GO:0034394

protein localization to cell surface

18322202

FLNA

GO:0043113

receptor clustering

10692483

FLNA

GO:0043433

negative regulation of DNA-binding transcription factor activity

15684392

FLNA

GO:0044319

wound healing, spreading of cells

16291724

FLNA

GO:0045184

establishment of protein localization

18322202

FLNA

GO:0051764

actin crosslink formation

10051605

FLNA

GO:0072659

protein localization to plasma membrane

24951510

FLNA

GO:0090307

mitotic spindle assembly

18548008

FLNA

GO:1901381

positive regulation of potassium ion transmembrane transport

24951510


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Gene structures and expression levels for FLNA

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000196924
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PCCUPENST00000498411.1FLNA-216:lncRNA:FLNA3.076727e+001.655778e+009.237406e-042.443589e-02
CBDOWNENST00000498411.1FLNA-216:lncRNA:FLNA4.729137e+01-1.332496e+008.827154e-069.498763e-05
CBDOWNENST00000498491.5FLNA-217:lncRNA:FLNA1.682661e+02-9.795901e-013.183349e-041.969830e-03
CBDOWNENST00000610817.4FLNA-218:protein_coding:FLNA2.707934e+01-4.716825e+002.657273e-031.166655e-02
TCUPENST00000360319.9FLNA-201:protein_coding:FLNA3.346758e+023.151724e+008.809261e-098.091651e-07
TCUPENST00000546355.4RFLNA-205:protein_coding:RFLNA3.636467e+011.114450e+002.079600e-054.616127e-04
TCDOWNENST00000498411.1FLNA-216:lncRNA:FLNA5.145161e+01-1.151572e+001.592046e-042.334706e-03
TCUPENST00000422373.5FLNA-206:protein_coding:FLNA2.061855e+022.420509e+001.895804e-042.681742e-03
TCUPENST00000324038.6RFLNA-201:protein_coding:RFLNA6.366164e+011.127081e+009.357819e-049.391935e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FLNA

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_115340chrX154352276:154352447:154352553:154352675:154352772:154352924154352553:154352675
exon_skip_132213chrX154350909:154351041:154351581:154351696:154351884:154351950154351581:154351696
exon_skip_134837chrX154354825:154355072:154357251:154357274:154357434:154357623154357251:154357274
exon_skip_175152chrX154353393:154353457:154353554:154353727:154353915:154354039154353554:154353727
exon_skip_180828chrX154362242:154362332:154362418:154362578:154362661:154362784154362418:154362578
exon_skip_239113chrX154354381:154354483:154354616:154354711:154354825:154354889154354616:154354711
exon_skip_248078chrX154361308:154361570:154361670:154361787:154361979:154362148154361670:154361787
exon_skip_248754chrX154350031:154350207:154350909:154351041:154351581:154351696154350909:154351041
exon_skip_276548chrX154353393:154353457:154353554:154353727:154353915:154354043154353554:154353727
exon_skip_291096chrX154361438:154361570:154361670:154361787:154361979:154362148154361670:154361787
exon_skip_30234chrX154353296:154353457:154353554:154353727:154353915:154354043154353554:154353727
exon_skip_30474chrX154354873:154355072:154357251:154357274:154357434:154357623154357251:154357274
exon_skip_41167chrX154365349:154365486:154366024:154366224:154366308:154366470154366024:154366224
exon_skip_52341chrX154353438:154353457:154353554:154353727:154353915:154354043154353554:154353727
exon_skip_57672chrX154352181:154352447:154352553:154352675:154352772:154352783154352553:154352675
exon_skip_70486chrX154359732:154359905:154359990:154360587:154361308:154361570154359990:154360587
exon_skip_83010chrX154352181:154352447:154352553:154352675:154352772:154352924154352553:154352675

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_30474Mayo_TC5.836585e-017.403846e-01-1.567261e-012.040787e-08


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Open reading frame (ORF) annotation in the exon skipping event for FLNA

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000369850154350909154351041Frame-shift
ENST00000369850154351581154351696Frame-shift
ENST00000369850154362418154362578Frame-shift
ENST00000369850154352553154352675In-frame
ENST00000369850154353554154353727In-frame
ENST00000369850154354616154354711In-frame
ENST00000369850154357251154357274In-frame
ENST00000369850154366024154366224In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000369850154361670154361787Frame-shift
ENST00000369850154352553154352675In-frame
ENST00000369850154353554154353727In-frame
ENST00000369850154354616154354711In-frame
ENST00000369850154357251154357274In-frame
ENST00000369850154366024154366224In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000369850154350909154351041Frame-shift
ENST00000369850154351581154351696Frame-shift
ENST00000369850154359990154360587Frame-shift
ENST00000369850154361670154361787Frame-shift
ENST00000369850154362418154362578Frame-shift
ENST00000369850154352553154352675In-frame
ENST00000369850154353554154353727In-frame
ENST00000369850154354616154354711In-frame
ENST00000369850154357251154357274In-frame

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Infer the effects of exon skipping event on protein functional features for FLNA

p-ENSG00000196924_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003698508533264715436602415436622414781677409476
ENST00000369850853326471543546161543547115467556117391770
ENST00000369850853326471543535541543537275936610818951953
ENST00000369850853326471543525531543526756629675021262167

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003698508533264715436602415436622414781677409476
ENST00000369850853326471543546161543547115467556117391770
ENST00000369850853326471543535541543537275936610818951953
ENST00000369850853326471543525531543526756629675021262167

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000369850853326471543546161543547115467556117391770
ENST00000369850853326471543535541543537275936610818951953
ENST00000369850853326471543525531543526756629675021262167

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P2133340947622647ChainID=PRO_0000087296;Note=Filamin-A
P21333409476429429Natural variantID=VAR_069803;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12612583;Dbxref=dbSNP:rs36051194,PMID:12612583
P21333409476376474RepeatNote=Filamin 2
P21333409476475570RepeatNote=Filamin 3
P213331739177022647ChainID=PRO_0000087296;Note=Filamin-A
P213331739177017241739Natural variantID=VAR_064159;Note=In TOD. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20598277;Dbxref=PMID:20598277
P213331739177017641764Natural variantID=VAR_012835;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11532987,ECO:0000269|PubMed:12612583;Dbxref=dbSNP:rs57108893,PMID:11532987,PMID:12612583
P213331739177017411778RegionNote=Hinge 1
P213331739177016491740RepeatNote=Filamin 15
P213331739177017611762SiteNote=Cleavage%3B by calpain
P213331895195318951906Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319091914Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319161925Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319301938Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319471953Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195322647ChainID=PRO_0000087296;Note=Filamin-A
P213331895195318611950RepeatNote=Filamin 17
P213331895195319512039RepeatNote=Filamin 18
P213332126216721292136Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J3S
P213332126216721392148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J3S
P213332126216721612165Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P3W
P213332126216722647ChainID=PRO_0000087296;Note=Filamin-A
P213332126216721282128Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P213332126216721522152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20
P213332126216721582158Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18088087,PMID:23186163,PMID:24275569
P213332126216721632163Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P213332126216720422131RepeatNote=Filamin 19
P213332126216721322230RepeatNote=Filamin 20

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P2133340947622647ChainID=PRO_0000087296;Note=Filamin-A
P21333409476429429Natural variantID=VAR_069803;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12612583;Dbxref=dbSNP:rs36051194,PMID:12612583
P21333409476376474RepeatNote=Filamin 2
P21333409476475570RepeatNote=Filamin 3
P213331739177022647ChainID=PRO_0000087296;Note=Filamin-A
P213331739177017241739Natural variantID=VAR_064159;Note=In TOD. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20598277;Dbxref=PMID:20598277
P213331739177017641764Natural variantID=VAR_012835;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11532987,ECO:0000269|PubMed:12612583;Dbxref=dbSNP:rs57108893,PMID:11532987,PMID:12612583
P213331739177017411778RegionNote=Hinge 1
P213331739177016491740RepeatNote=Filamin 15
P213331739177017611762SiteNote=Cleavage%3B by calpain
P213331895195318951906Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319091914Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319161925Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319301938Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319471953Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195322647ChainID=PRO_0000087296;Note=Filamin-A
P213331895195318611950RepeatNote=Filamin 17
P213331895195319512039RepeatNote=Filamin 18
P213332126216721292136Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J3S
P213332126216721392148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J3S
P213332126216721612165Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P3W
P213332126216722647ChainID=PRO_0000087296;Note=Filamin-A
P213332126216721282128Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P213332126216721522152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20
P213332126216721582158Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18088087,PMID:23186163,PMID:24275569
P213332126216721632163Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P213332126216720422131RepeatNote=Filamin 19
P213332126216721322230RepeatNote=Filamin 20

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P213331739177022647ChainID=PRO_0000087296;Note=Filamin-A
P213331739177017241739Natural variantID=VAR_064159;Note=In TOD. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20598277;Dbxref=PMID:20598277
P213331739177017641764Natural variantID=VAR_012835;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11532987,ECO:0000269|PubMed:12612583;Dbxref=dbSNP:rs57108893,PMID:11532987,PMID:12612583
P213331739177017411778RegionNote=Hinge 1
P213331739177016491740RepeatNote=Filamin 15
P213331739177017611762SiteNote=Cleavage%3B by calpain
P213331895195318951906Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319091914Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319161925Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319301938Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195319471953Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BP3
P213331895195322647ChainID=PRO_0000087296;Note=Filamin-A
P213331895195318611950RepeatNote=Filamin 17
P213331895195319512039RepeatNote=Filamin 18
P213332126216721292136Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J3S
P213332126216721392148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J3S
P213332126216721612165Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P3W
P213332126216722647ChainID=PRO_0000087296;Note=Filamin-A
P213332126216721282128Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P213332126216721522152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20
P213332126216721582158Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18088087,PMID:23186163,PMID:24275569
P213332126216721632163Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P213332126216720422131RepeatNote=Filamin 19
P213332126216721322230RepeatNote=Filamin 20


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3'-UTR located exon skipping events that lost miRNA binding sites in FLNA

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for FLNA

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for FLNA

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FLNA

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for FLNA

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for FLNA

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FLNA

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource