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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 FHAD1

check button Gene summary
Gene informationGene symbol

FHAD1

Gene ID

114827

Gene nameforkhead associated phosphopeptide binding domain 1
Synonyms-
Cytomap

1p36.21

Type of geneprotein-coding
Descriptionforkhead-associated domain-containing protein 1FHA domain-containing protein 1forkhead-associated (FHA) phosphopeptide binding domain 1
Modification date20200313
UniProtAcc

B1AJZ9,

H0Y3C6,

H0Y5P0,

H0Y605,

H0YCR1,

H0YE38,

H0YEU3,

Q5JYW1,

Q5JYW6,

Context

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

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Gene structures and expression levels for FHAD1

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

ENSG00000142621
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 FHAD1

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_126796chr115316378:15316467:15317824:15317928:15327059:1532714215317824:15317928
exon_skip_170364chr115296684:15296793:15301205:15301441:15308613:1530873615301205:15301441
exon_skip_174383chr115251785:15251877:15272323:15272529:15289399:1528966615272323:15272529
exon_skip_185400chr115251785:15251877:15272323:15272529:15289399:1528964115272323:15272529
exon_skip_195368chr115316378:15316467:15317824:15317928:15324452:1532455915317824:15317928
exon_skip_226523chr115382028:15382193:15391210:15391263:15397297:1539744915391210:15391263
exon_skip_280436chr115345431:15345523:15349042:15349149:15352877:1535298415349042:15349149
exon_skip_74972chr115382028:15382193:15391210:15391263:15397297:1539751615391210:15391263
exon_skip_80595chr115305780:15305819:15308613:15308736:15313057:1531318715308613:15308736
exon_skip_97495chr115317824:15317928:15324452:15324559:15327059:1532714215324452:15324559

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for FHAD1

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
ENST000003588971527232315272529In-frame
ENST000003759981527232315272529In-frame
ENST000003588971531782415317928In-frame
ENST000003759981531782415317928In-frame
ENST000003588971532445215324559In-frame
ENST000003759981532445215324559In-frame
ENST000003588971534904215349149In-frame
ENST000003759981534904215349149In-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
ENST000003588971531782415317928In-frame
ENST000003759981531782415317928In-frame
ENST000003588971532445215324559In-frame
ENST000003759981532445215324559In-frame
ENST000003588971534904215349149In-frame
ENST000003759981534904215349149In-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
ENST000003588971527232315272529In-frame
ENST000003759981527232315272529In-frame
ENST000003588971530120515301441In-frame
ENST000003759981530120515301441In-frame
ENST000003588971531782415317928In-frame
ENST000003759981531782415317928In-frame
ENST000003588971532445215324559In-frame
ENST000003759981532445215324559In-frame
ENST000003588971534904215349149In-frame
ENST000003759981534904215349149In-frame

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Infer the effects of exon skipping event on protein functional features for FHAD1

p-ENSG00000142621_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
ENST0000035889751071412152723231527252923343831100
ENST000003759984372141215272323152725299530031100
ENST0000035889751071412153178241531792814001503420455
ENST0000037599843721412153178241531792812621365420455
ENST0000035889751071412153244521532455915051611455491
ENST0000037599843721412153244521532455913671473455491
ENST0000035889751071412153490421534914924202526760796
ENST0000037599843721412153490421534914922822388760796

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
ENST0000035889751071412153178241531792814001503420455
ENST0000037599843721412153178241531792812621365420455
ENST0000035889751071412153244521532455915051611455491
ENST0000037599843721412153244521532455913671473455491
ENST0000035889751071412153490421534914924202526760796
ENST0000037599843721412153490421534914922822388760796

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
ENST0000035889751071412152723231527252923343831100
ENST000003759984372141215272323152725299530031100
ENST000003588975107141215301205153014418181053226305
ENST00000375998437214121530120515301441680915226305
ENST0000035889751071412153178241531792814001503420455
ENST0000037599843721412153178241531792812621365420455
ENST0000035889751071412153244521532455915051611455491
ENST0000037599843721412153244521532455913671473455491
ENST0000035889751071412153490421534914924202526760796
ENST0000037599843721412153490421534914922822388760796

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
B1AJZ93110011412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ93110011412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ93110098160Compositional biasNote=Pro-rich
B1AJZ93110098160Compositional biasNote=Pro-rich
B1AJZ9311001869DomainNote=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086
B1AJZ9311001869DomainNote=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086
B1AJZ942045511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ942045511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9420455250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9420455250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ945549111412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ945549111412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9455491250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9455491250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796758793Alternative sequenceID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
B1AJZ9760796758793Alternative sequenceID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
B1AJZ976079611412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ976079611412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9760796692963Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796692963Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796763763Natural variantID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178
B1AJZ9760796763763Natural variantID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178

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
B1AJZ942045511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ942045511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9420455250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9420455250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ945549111412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ945549111412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9455491250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9455491250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796758793Alternative sequenceID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
B1AJZ9760796758793Alternative sequenceID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
B1AJZ976079611412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ976079611412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9760796692963Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796692963Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796763763Natural variantID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178
B1AJZ9760796763763Natural variantID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178

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
B1AJZ93110011412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ93110011412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ93110098160Compositional biasNote=Pro-rich
B1AJZ93110098160Compositional biasNote=Pro-rich
B1AJZ9311001869DomainNote=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086
B1AJZ9311001869DomainNote=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086
B1AJZ922630511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ922630511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9226305250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9226305250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ942045511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ942045511412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9420455250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9420455250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ945549111412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ945549111412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9455491250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9455491250466Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796758793Alternative sequenceID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
B1AJZ9760796758793Alternative sequenceID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
B1AJZ976079611412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ976079611412ChainID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1
B1AJZ9760796692963Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796692963Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
B1AJZ9760796763763Natural variantID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178
B1AJZ9760796763763Natural variantID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178


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3'-UTR located exon skipping events that lost miRNA binding sites in FHAD1

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 FHAD1

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 FHAD1

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 FHAD1

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 FHAD1

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

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RelatedDrugs for FHAD1

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 FHAD1

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