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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for FHL3 |
Gene summary |
Gene information | Gene symbol | FHL3 | Gene ID | 2275 |
Gene name | four and a half LIM domains 3 | |
Synonyms | SLIM2 | |
Cytomap | 1p34.3 | |
Type of gene | protein-coding | |
Description | four and a half LIM domains protein 3FHL-3LIM-only protein FHL3SLIM-2skeletal muscle LIM-protein 2 | |
Modification date | 20180523 | |
UniProtAcc | Q13643 | |
Context | PubMed: FHL3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for FHL3 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for FHL3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FHL3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_25280 | 1 | 38463016:38463231:38463355:38463542:38464645:38464820 | 38463355:38463542 | ENSG00000183386.5 | ENST00000475084.1 |
exon_skip_25282 | 1 | 38463359:38463542:38463634:38463804:38464645:38464820 | 38463634:38463804 | ENSG00000183386.5 | ENST00000373016.3,ENST00000477194.1,ENST00000485803.1 |
exon_skip_25286 | 1 | 38464645:38464820:38464928:38465104:38471028:38471174 | 38464928:38465104 | ENSG00000183386.5 | ENST00000373016.3 |
exon_skip_25287 | 1 | 38464645:38464820:38464928:38465104:38471110:38471278 | 38464928:38465104 | ENSG00000183386.5 | ENST00000477194.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FHL3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_25280 | 1 | 38463016:38463231:38463355:38463542:38464645:38464820 | 38463355:38463542 | ENSG00000183386.5 | ENST00000475084.1 |
exon_skip_25282 | 1 | 38463359:38463542:38463634:38463804:38464645:38464820 | 38463634:38463804 | ENSG00000183386.5 | ENST00000485803.1,ENST00000373016.3,ENST00000477194.1 |
exon_skip_25286 | 1 | 38464645:38464820:38464928:38465104:38471028:38471174 | 38464928:38465104 | ENSG00000183386.5 | ENST00000373016.3 |
exon_skip_25287 | 1 | 38464645:38464820:38464928:38465104:38471110:38471278 | 38464928:38465104 | ENSG00000183386.5 | ENST00000477194.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FHL3 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000373016 | 38464928 | 38465104 | 3UTR-3CDS |
ENST00000373016 | 38463634 | 38463804 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000373016 | 38464928 | 38465104 | 3UTR-3CDS |
ENST00000373016 | 38463634 | 38463804 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FHL3 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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 feature | Description of feature |
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 feature | Description of feature |
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SNVs in the skipped exons for FHL3 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A3A1-01 | exon_skip_25280 | 38463356 | 38463542 | 38463363 | 38463363 | Frame_Shift_Del | G | - | p.P227fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_25280 | 38463356 | 38463542 | 38463405 | 38463405 | Frame_Shift_Del | A | - | p.F213fs |
STAD | TCGA-BR-8360-01 | exon_skip_25286 exon_skip_25287 | 38464929 | 38465104 | 38465063 | 38465064 | Frame_Shift_Del | CA | - | p.8_8del |
STAD | TCGA-BR-8360-01 | exon_skip_25286 exon_skip_25287 | 38464929 | 38465104 | 38465063 | 38465064 | Frame_Shift_Del | CA | - | p.A8fs |
PAAD | TCGA-IB-7651-01 | exon_skip_25280 | 38463356 | 38463542 | 38463501 | 38463501 | Nonsense_Mutation | C | T | p.W181* |
PAAD | TCGA-IB-7651-01 | exon_skip_25280 | 38463356 | 38463542 | 38463501 | 38463501 | Nonsense_Mutation | C | T | p.W181X |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
EW18_BONE | 38464929 | 38465104 | 38465014 | 38465017 | Frame_Shift_Del | CTGT | - | p.DS23fs |
SNGM_ENDOMETRIUM | 38463356 | 38463542 | 38463476 | 38463476 | Missense_Mutation | C | T | p.G190R |
HCC15_LUNG | 38463356 | 38463542 | 38463485 | 38463485 | Missense_Mutation | C | A | p.V187F |
NCIH1618_LUNG | 38463635 | 38463804 | 38463648 | 38463648 | Missense_Mutation | G | A | p.A163V |
HCT116_LARGE_INTESTINE | 38463635 | 38463804 | 38463781 | 38463781 | Missense_Mutation | C | T | p.G119S |
RCCER_KIDNEY | 38464929 | 38465104 | 38464936 | 38464936 | Missense_Mutation | T | A | p.D50V |
SNU503_LARGE_INTESTINE | 38464929 | 38465104 | 38464990 | 38464990 | Missense_Mutation | T | C | p.Y32C |
2313287_STOMACH | 38464929 | 38465104 | 38465029 | 38465029 | Missense_Mutation | T | C | p.Y19C |
SKUT1_SOFT_TISSUE | 38464929 | 38465104 | 38465036 | 38465036 | Missense_Mutation | G | A | p.R17C |
HS739T_FIBROBLAST | 38464929 | 38465104 | 38465051 | 38465051 | Missense_Mutation | C | T | p.E12K |
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38464929 | 38465104 | 38464933 | 38464933 | Nonsense_Mutation | G | T | p.S51* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FHL3 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA 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 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FHL3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |