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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for FCHO2

check button Gene summary
Gene informationGene symbol

FCHO2

Gene ID

115548

Gene nameFCH domain only 2
Synonyms-
Cytomap

5q13.2

Type of geneprotein-coding
DescriptionF-BAR domain only protein 2FCH domain only protein 2
Modification date20180523
UniProtAcc

Q0JRZ9

ContextPubMed: FCHO2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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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Exon skipping events across known transcript of Ensembl for FCHO2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for FCHO2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for FCHO2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_435571572251897:72251956:72264324:72264416:72285253:7228532872264324:72264416ENSG00000157107.9ENST00000341845.6,ENST00000512348.1,ENST00000287761.6
exon_skip_435572572264324:72264416:72285253:72285328:72286304:7228644672285253:72285328ENSG00000157107.9ENST00000341845.6,ENST00000512348.1,ENST00000287761.6,ENST00000430046.2
exon_skip_435573572286304:72286446:72286538:72286691:72302271:7230237672286538:72286691ENSG00000157107.9ENST00000507345.2,ENST00000341845.6,ENST00000512348.1,ENST00000287761.6,ENST00000430046.2
exon_skip_435574572286538:72286691:72302271:72302376:72311452:7231155172302271:72302376ENSG00000157107.9ENST00000507345.2,ENST00000341845.6,ENST00000287761.6,ENST00000430046.2
exon_skip_435575572286538:72286691:72302271:72302376:72313038:7231310972302271:72302376ENSG00000157107.9ENST00000512348.1
exon_skip_435580572302271:72302376:72311452:72311551:72313038:7231310972311452:72311551ENSG00000157107.9ENST00000507345.2,ENST00000341845.6,ENST00000287761.6,ENST00000430046.2
exon_skip_435581572302271:72302376:72313038:72313135:72330483:7233052872313038:72313135ENSG00000157107.9ENST00000512348.1
exon_skip_435582572332969:72333042:72337117:72337142:72347175:7234723372337117:72337142ENSG00000157107.9ENST00000341845.6,ENST00000512348.1,ENST00000430046.2
exon_skip_435584572354259:72354351:72359667:72359771:72364476:7236460672359667:72359771ENSG00000157107.9ENST00000508431.1,ENST00000341845.6,ENST00000512348.1,ENST00000430046.2
exon_skip_435591572373164:72373320:72374006:72374139:72377609:7237780972374006:72374139ENSG00000157107.9ENST00000341845.6,ENST00000512348.1,ENST00000430046.2
exon_skip_435595572374006:72374139:72377609:72377809:72378587:7237865272377609:72377809ENSG00000157107.9ENST00000341845.6,ENST00000512348.1,ENST00000430046.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for FCHO2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_435571572251897:72251956:72264324:72264416:72285253:7228532872264324:72264416ENSG00000157107.9ENST00000341845.6,ENST00000512348.1,ENST00000287761.6
exon_skip_435572572264324:72264416:72285253:72285328:72286304:7228644672285253:72285328ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000512348.1,ENST00000287761.6
exon_skip_435573572286304:72286446:72286538:72286691:72302271:7230237672286538:72286691ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000507345.2,ENST00000512348.1,ENST00000287761.6
exon_skip_435574572286538:72286691:72302271:72302376:72311452:7231155172302271:72302376ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000507345.2,ENST00000287761.6
exon_skip_435575572286538:72286691:72302271:72302376:72313038:7231310972302271:72302376ENSG00000157107.9ENST00000512348.1
exon_skip_435580572302271:72302376:72311452:72311551:72313038:7231310972311452:72311551ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000507345.2,ENST00000287761.6
exon_skip_435581572302271:72302376:72313038:72313135:72330483:7233052872313038:72313135ENSG00000157107.9ENST00000512348.1
exon_skip_435582572332969:72333042:72337117:72337142:72347175:7234723372337117:72337142ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000512348.1
exon_skip_435584572354259:72354351:72359667:72359771:72364476:7236460672359667:72359771ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000512348.1,ENST00000508431.1
exon_skip_435591572373164:72373320:72374006:72374139:72377609:7237780972374006:72374139ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000512348.1
exon_skip_435595572374006:72374139:72377609:72377809:72378587:7237865272377609:72377809ENSG00000157107.9ENST00000430046.2,ENST00000341845.6,ENST00000512348.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for FCHO2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004300467233711772337142Frame-shift
ENST000004300467235966772359771Frame-shift
ENST000004300467237400672374139Frame-shift
ENST000004300467237760972377809Frame-shift
ENST000004300467228525372285328In-frame
ENST000004300467228653872286691In-frame
ENST000004300467230227172302376In-frame
ENST000004300467231145272311551In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004300467233711772337142Frame-shift
ENST000004300467235966772359771Frame-shift
ENST000004300467237400672374139Frame-shift
ENST000004300467237760972377809Frame-shift
ENST000004300467228525372285328In-frame
ENST000004300467228653872286691In-frame
ENST000004300467230227172302376In-frame
ENST000004300467231145272311551In-frame

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Infer the effects of exon skipping event on protein functional features for FCHO2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000430046499881072285253722853282423164266
ENST0000043004649988107228653872286691459611114165
ENST0000043004649988107230227172302376612716165200
ENST0000043004649988107231145272311551717815200233

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000430046499881072285253722853282423164266
ENST0000043004649988107228653872286691459611114165
ENST0000043004649988107230227172302376612716165200
ENST0000043004649988107231145272311551717815200233

check button Lost protein functional features of individual exon skipping events in TCGA.
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
Q0JRZ942661810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ942663250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ942661761HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ942663274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation
Q0JRZ91141651810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ911416587156Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q0JRZ9114165147147Disulfide bondNote=Interchain (with C-273);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17540576;Dbxref=PMID:17540576
Q0JRZ91141653250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ911416573118HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ9114165120156HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ9114165160244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ91141653274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation
Q0JRZ9165200200232Alternative sequenceID=VSP_044812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0JRZ91652001810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ91652003250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ9165200160244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ91652003274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation
Q0JRZ9200233200232Alternative sequenceID=VSP_044812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0JRZ92002331810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ92002333250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ9200233160244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ92002333274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation


check button Lost protein functional features of individual exon skipping events in GTEx.
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
Q0JRZ942661810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ942663250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ942661761HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ942663274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation
Q0JRZ91141651810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ911416587156Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q0JRZ9114165147147Disulfide bondNote=Interchain (with C-273);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17540576;Dbxref=PMID:17540576
Q0JRZ91141653250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ911416573118HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ9114165120156HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ9114165160244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ91141653274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation
Q0JRZ9165200200232Alternative sequenceID=VSP_044812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0JRZ91652001810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ91652003250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ9165200160244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ91652003274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation
Q0JRZ9200233200232Alternative sequenceID=VSP_044812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0JRZ92002331810ChainID=PRO_0000266005;Note=F-BAR domain only protein 2
Q0JRZ92002333250DomainNote=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077
Q0JRZ9200233160244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V0O
Q0JRZ92002333274RegionNote=Mediates dimerization and binding to membranes enriched in Pi(4%2C5)-P2 and induces their tubulation


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SNVs in the skipped exons for FCHO2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COADTCGA-G4-6586-01exon_skip_435571
72264325722644167226432972264330Frame_Shift_DelAA-p.13_13del
LIHCTCGA-DD-A1EG-01exon_skip_435571
72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
HNSCTCGA-CV-7250-01exon_skip_435581
72313039723131357231307972313086Frame_Shift_DelTTGAAAGT-p.VES247fs
LIHCTCGA-G3-A3CJ-01exon_skip_435581
72313039723131357231311072313110Frame_Shift_DelA-p.S257fs
LIHCTCGA-DD-A3A0-01exon_skip_435581
72313039723131357231312572313125Frame_Shift_DelG-p.K262fs
LIHCTCGA-DD-A1EG-01exon_skip_435584
72359668723597717235973272359732Frame_Shift_DelA-p.P470fs
LIHCTCGA-DD-A3A0-01exon_skip_435591
72374007723741397237407772374077Frame_Shift_DelA-p.K641fs
LIHCTCGA-G3-A3CJ-01exon_skip_435591
72374007723741397237409872374098Frame_Shift_DelC-p.P647fs
LIHCTCGA-DD-A39Y-01exon_skip_435591
72374007723741397237410672374106Frame_Shift_DelT-p.A649fs
LIHCTCGA-G3-A3CJ-01exon_skip_435595
72377610723778097237766172377661Frame_Shift_DelA-p.K678fs
BLCATCGA-E7-A97P-01exon_skip_435595
72377610723778097237779672377797Frame_Shift_DelCC-p.P724fs
COADTCGA-AZ-6598-01exon_skip_435571
72264325722644167226432872264329Frame_Shift_Ins-Ap.E13fs
LIHCTCGA-BC-A112-01exon_skip_435584
72359668723597717235976672359767Frame_Shift_Ins-Ap.N482fs
KIRCTCGA-A3-A8OV-01exon_skip_435575
exon_skip_435574
72302272723023767230230772302307Nonsense_MutationTGp.Y177X
SKCMTCGA-W3-A828-06exon_skip_435580
72311453723115517231145972311459Nonsense_MutationCTp.Q203*
UCECTCGA-BS-A0UV-01exon_skip_435595
72377610723778097237761472377614Nonsense_MutationCAp.S662*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LNCAPCLONEFGC_PROSTATE72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
MDAPCA2B_PROSTATE72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
CAL51_BREAST72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
CCK81_LARGE_INTESTINE72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
2313287_STOMACH72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE72264325722644167226432972264329Frame_Shift_DelA-p.E13fs
OVMIU_OVARY72286539722866917228654972286550Missense_MutationAATTp.E118V
NCIH630_LARGE_INTESTINE72286539722866917228665172286651Missense_MutationGAp.R152H
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE72359668723597717235968272359682Missense_MutationCTp.P454S
HEC151_ENDOMETRIUM72374007723741397237408372374083Missense_MutationCAp.L642M
NCIH441_LUNG72377610723778097237762672377626Missense_MutationTCp.I666T
HUG1N_STOMACH72377610723778097237768572377685Missense_MutationCTp.L686F
HSC2_UPPER_AERODIGESTIVE_TRACT72377610723778097237769872377698Missense_MutationAGp.Y690C
HEC6_ENDOMETRIUM72377610723778097237771072377710Missense_MutationCTp.P694L
CP66MEL_SKIN72377610723778097237775472377754Missense_MutationGAp.V709M
JHUEM7_ENDOMETRIUM72286539722866917228668072286680Nonsense_MutationGTp.E162*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FCHO2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FCHO2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FCHO2


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RelatedDrugs for FCHO2

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

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RelatedDiseases for FCHO2

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