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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for FMNL3 |
 Gene summary |
| Gene information | Gene symbol | FMNL3 | Gene ID | 91010 |
| Gene name | formin like 3 | |
| Synonyms | FHOD3|FRL2|WBP-3|WBP3 | |
| Cytomap | 12q13.12 | |
| Type of gene | protein-coding | |
| Description | formin-like protein 3WW domain binding protein 3formin homology 2 domain-containing protein 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IVF7 | |
| Context | PubMed: FMNL3 [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 FMNL3 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 FMNL3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FMNL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_91941 | 12 | 50039432:50039686:50040421:50040536:50040668:50040792 | 50040421:50040536 | ENSG00000161791.9 | ENST00000550488.1 |
| exon_skip_91943 | 12 | 50043473:50043708:50044458:50044661:50044950:50045075 | 50044458:50044661 | ENSG00000161791.9 | ENST00000293590.5,ENST00000352151.5,ENST00000549137.1,ENST00000550488.1,ENST00000335154.5 |
| exon_skip_91946 | 12 | 50045164:50045233:50045715:50045995:50047008:50047110 | 50045715:50045995 | ENSG00000161791.9 | ENST00000293590.5,ENST00000352151.5,ENST00000550488.1,ENST00000335154.5 |
| exon_skip_91947 | 12 | 50047507:50047657:50047974:50048085:50048692:50048767 | 50047974:50048085 | ENSG00000161791.9 | ENST00000293590.5,ENST00000352151.5,ENST00000550488.1,ENST00000335154.5 |
| exon_skip_91951 | 12 | 50050864:50050973:50052224:50052377:50055748:50055832 | 50052224:50052377 | ENSG00000161791.9 | ENST00000293590.5,ENST00000550488.1,ENST00000335154.5 |
| exon_skip_91953 | 12 | 50052224:50052377:50055748:50055832:50059614:50059691 | 50055748:50055832 | ENSG00000161791.9 | ENST00000293590.5,ENST00000550488.1,ENST00000335154.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FMNL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_91941 | 12 | 50039432:50039686:50040421:50040536:50040668:50040792 | 50040421:50040536 | ENSG00000161791.9 | ENST00000550488.1 |
| exon_skip_91943 | 12 | 50043473:50043708:50044458:50044661:50044950:50045075 | 50044458:50044661 | ENSG00000161791.9 | ENST00000335154.5,ENST00000550488.1,ENST00000549137.1,ENST00000352151.5,ENST00000293590.5 |
| exon_skip_91946 | 12 | 50045164:50045233:50045715:50045995:50047008:50047110 | 50045715:50045995 | ENSG00000161791.9 | ENST00000335154.5,ENST00000550488.1,ENST00000352151.5,ENST00000293590.5 |
| exon_skip_91947 | 12 | 50047507:50047657:50047974:50048085:50048692:50048767 | 50047974:50048085 | ENSG00000161791.9 | ENST00000335154.5,ENST00000550488.1,ENST00000352151.5,ENST00000293590.5 |
| exon_skip_91951 | 12 | 50050864:50050973:50052224:50052377:50055748:50055832 | 50052224:50052377 | ENSG00000161791.9 | ENST00000335154.5,ENST00000550488.1,ENST00000293590.5 |
| exon_skip_91953 | 12 | 50052224:50052377:50055748:50055832:50059614:50059691 | 50055748:50055832 | ENSG00000161791.9 | ENST00000335154.5,ENST00000550488.1,ENST00000293590.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FMNL3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for FMNL3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 FMNL3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-A3A0-01 | exon_skip_91943 | 50044459 | 50044661 | 50044582 | 50044582 | Frame_Shift_Del | T | - | p.N626fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_91943 | 50044459 | 50044661 | 50044609 | 50044609 | Frame_Shift_Del | G | - | p.P617fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_91943 | 50044459 | 50044661 | 50044620 | 50044620 | Frame_Shift_Del | T | - | p.K613fs |
| UVM | TCGA-VD-A8K9-01 | exon_skip_91946 | 50045716 | 50045995 | 50045720 | 50045720 | Frame_Shift_Del | T | - | p.L533fs |
| LUAD | TCGA-NJ-A4YI-01 | exon_skip_91946 | 50045716 | 50045995 | 50045884 | 50045884 | Nonsense_Mutation | C | A | p.E479* |
| SKCM | TCGA-BF-AAP4-01 | exon_skip_91946 | 50045716 | 50045995 | 50045923 | 50045923 | Nonsense_Mutation | G | A | p.Q466* |
| BLCA | TCGA-ZF-AA54-01 | exon_skip_91947 | 50047975 | 50048085 | 50048043 | 50048043 | Nonsense_Mutation | C | A | p.E335* |
| - 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 |
| HMY1_SKIN | 50044459 | 50044661 | 50044463 | 50044463 | Missense_Mutation | G | C | p.H666D |
| HCT15_LARGE_INTESTINE | 50044459 | 50044661 | 50044554 | 50044554 | Missense_Mutation | C | A | p.K635N |
| SNGM_ENDOMETRIUM | 50044459 | 50044661 | 50044558 | 50044558 | Missense_Mutation | C | T | p.S634N |
| HMY1_SKIN | 50044459 | 50044661 | 50044593 | 50044593 | Missense_Mutation | G | C | p.I622M |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 50044459 | 50044661 | 50044601 | 50044601 | Missense_Mutation | C | G | p.D620H |
| HCC1171_LUNG | 50044459 | 50044661 | 50044610 | 50044610 | Missense_Mutation | G | T | p.P617T |
| HKA1_SKIN | 50045716 | 50045995 | 50045800 | 50045800 | Missense_Mutation | C | T | p.A507T |
| LOVO_LARGE_INTESTINE | 50045716 | 50045995 | 50045871 | 50045871 | Missense_Mutation | C | T | p.S483N |
| HEC1_ENDOMETRIUM | 50045716 | 50045995 | 50045893 | 50045893 | Missense_Mutation | G | A | p.R476W |
| HEC59_ENDOMETRIUM | 50045716 | 50045995 | 50045899 | 50045899 | Missense_Mutation | T | C | p.N474D |
| SNU81_LARGE_INTESTINE | 50045716 | 50045995 | 50045916 | 50045916 | Missense_Mutation | C | T | p.R468Q |
| KYSE70_OESOPHAGUS | 50045716 | 50045995 | 50045965 | 50045965 | Missense_Mutation | G | T | p.H452N |
| KYSE70_OESOPHAGUS | 50045716 | 50045995 | 50045965 | 50045966 | Missense_Mutation | GC | TT | p.H452N |
| HKA1_SKIN | 50047975 | 50048085 | 50048010 | 50048010 | Missense_Mutation | C | T | p.E346K |
| JHUEM1_ENDOMETRIUM | 50047975 | 50048085 | 50048027 | 50048027 | Missense_Mutation | C | T | p.R340Q |
| PANC0213_PANCREAS | 50052225 | 50052377 | 50052241 | 50052241 | Missense_Mutation | G | A | p.R197C |
| NCIH1650_LUNG | 50052225 | 50052377 | 50052241 | 50052241 | Missense_Mutation | G | A | p.R197C |
| SW900_LUNG | 50052225 | 50052377 | 50052241 | 50052241 | Missense_Mutation | G | A | p.R197C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50052225 | 50052377 | 50052285 | 50052285 | Missense_Mutation | C | T | p.S182N |
| JHUEM1_ENDOMETRIUM | 50052225 | 50052377 | 50052304 | 50052304 | Missense_Mutation | C | T | p.E176K |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50052225 | 50052377 | 50052325 | 50052325 | Missense_Mutation | G | A | p.R169W |
| NCIH889_LUNG | 50055749 | 50055832 | 50055816 | 50055816 | Missense_Mutation | G | T | p.L129M |
| HEC1_ENDOMETRIUM | 50045716 | 50045995 | 50045833 | 50045833 | Nonsense_Mutation | C | A | p.E496* |
| C33A_CERVIX | 50055749 | 50055832 | 50055757 | 50055757 | Nonsense_Mutation | A | T | p.C148* |
| HEC6_ENDOMETRIUM | 50052225 | 50052377 | 50052226 | 50052226 | Splice_Site | G | A | p.R202W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FMNL3 |
| 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 FMNL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FMNL3 |
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RelatedDrugs for FMNL3 |
| 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 FMNL3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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