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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 FHL3

check button Gene summary
Gene informationGene symbol

FHL3

Gene ID

2275

Gene namefour and a half LIM domains 3
SynonymsSLIM2
Cytomap

1p34.3

Type of geneprotein-coding
Descriptionfour and a half LIM domains protein 3FHL-3LIM-only protein FHL3SLIM-2skeletal muscle LIM-protein 2
Modification date20180523
UniProtAcc

Q13643

ContextPubMed: FHL3 [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 FHL3 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 FHL3

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 FHL3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_25280138463016:38463231:38463355:38463542:38464645:3846482038463355:38463542ENSG00000183386.5ENST00000475084.1
exon_skip_25282138463359:38463542:38463634:38463804:38464645:3846482038463634:38463804ENSG00000183386.5ENST00000373016.3,ENST00000477194.1,ENST00000485803.1
exon_skip_25286138464645:38464820:38464928:38465104:38471028:3847117438464928:38465104ENSG00000183386.5ENST00000373016.3
exon_skip_25287138464645:38464820:38464928:38465104:38471110:3847127838464928:38465104ENSG00000183386.5ENST00000477194.1

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

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Exon skipping events with PSIs in GTEx for FHL3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_25280138463016:38463231:38463355:38463542:38464645:3846482038463355:38463542ENSG00000183386.5ENST00000475084.1
exon_skip_25282138463359:38463542:38463634:38463804:38464645:3846482038463634:38463804ENSG00000183386.5ENST00000485803.1,ENST00000373016.3,ENST00000477194.1
exon_skip_25286138464645:38464820:38464928:38465104:38471028:3847117438464928:38465104ENSG00000183386.5ENST00000373016.3
exon_skip_25287138464645:38464820:38464928:38465104:38471110:3847127838464928:38465104ENSG00000183386.5ENST00000477194.1

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 FHL3

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
ENST0000037301638464928384651043UTR-3CDS
ENST000003730163846363438463804Frame-shift

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
ENST0000037301638464928384651043UTR-3CDS
ENST000003730163846363438463804Frame-shift

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Infer the effects of exon skipping event on protein functional features for FHL3

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

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

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


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


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SNVs in the skipped exons for FHL3

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
LIHCTCGA-DD-A3A1-01exon_skip_25280
38463356384635423846336338463363Frame_Shift_DelG-p.P227fs
LIHCTCGA-DD-A3A0-01exon_skip_25280
38463356384635423846340538463405Frame_Shift_DelA-p.F213fs
STADTCGA-BR-8360-01exon_skip_25286
exon_skip_25287
38464929384651043846506338465064Frame_Shift_DelCA-p.8_8del
STADTCGA-BR-8360-01exon_skip_25286
exon_skip_25287
38464929384651043846506338465064Frame_Shift_DelCA-p.A8fs
PAADTCGA-IB-7651-01exon_skip_25280
38463356384635423846350138463501Nonsense_MutationCTp.W181*
PAADTCGA-IB-7651-01exon_skip_25280
38463356384635423846350138463501Nonsense_MutationCTp.W181X

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
EW18_BONE38464929384651043846501438465017Frame_Shift_DelCTGT-p.DS23fs
SNGM_ENDOMETRIUM38463356384635423846347638463476Missense_MutationCTp.G190R
HCC15_LUNG38463356384635423846348538463485Missense_MutationCAp.V187F
NCIH1618_LUNG38463635384638043846364838463648Missense_MutationGAp.A163V
HCT116_LARGE_INTESTINE38463635384638043846378138463781Missense_MutationCTp.G119S
RCCER_KIDNEY38464929384651043846493638464936Missense_MutationTAp.D50V
SNU503_LARGE_INTESTINE38464929384651043846499038464990Missense_MutationTCp.Y32C
2313287_STOMACH38464929384651043846502938465029Missense_MutationTCp.Y19C
SKUT1_SOFT_TISSUE38464929384651043846503638465036Missense_MutationGAp.R17C
HS739T_FIBROBLAST38464929384651043846505138465051Missense_MutationCTp.E12K
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE38464929384651043846493338464933Nonsense_MutationGTp.S51*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FHL3

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 FHL3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FHL3


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RelatedDrugs for FHL3

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 FHL3

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