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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 FGF12 |
 Gene summary |
| Gene information | Gene symbol | FGF12 | Gene ID | 2257 |
| Gene name | fibroblast growth factor 12 | |
| Synonyms | EIEE47|FGF12B|FHF1 | |
| Cytomap | 3q28-q29 | |
| Type of gene | protein-coding | |
| Description | fibroblast growth factor 12fibroblast growth factor 12Bfibroblast growth factor FGF-12bfibroblast growth factor homologous factor 1myocyte-activating factor | |
| Modification date | 20180519 | |
| UniProtAcc | P61328 | |
| Context | PubMed: FGF12 [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 FGF12 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 FGF12 |
| 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 FGF12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390867 | 3 | 191861848:191861916:191888246:191888445:192053149:192053253 | 191888246:191888445 | ENSG00000114279.9 | ENST00000264730.3,ENST00000430714.1,ENST00000454309.2,ENST00000450716.1,ENST00000445105.2,ENST00000448795.1 |
| exon_skip_390868 | 3 | 192053149:192053253:192078216:192078327:192125813:192126838 | 192078216:192078327 | ENSG00000114279.9 | ENST00000454309.2 |
| exon_skip_390869 | 3 | 192053149:192053253:192078216:192078327:192444969:192444982 | 192078216:192078327 | ENSG00000114279.9 | ENST00000264730.3,ENST00000450716.1,ENST00000445105.2,ENST00000418610.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGF12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390867 | 3 | 191861848:191861916:191888246:191888445:192053149:192053253 | 191888246:191888445 | ENSG00000114279.9 | ENST00000445105.2,ENST00000264730.3,ENST00000454309.2,ENST00000450716.1,ENST00000430714.1,ENST00000448795.1 |
| exon_skip_390868 | 3 | 192053149:192053253:192078216:192078327:192125813:192126838 | 192078216:192078327 | ENSG00000114279.9 | ENST00000454309.2 |
| exon_skip_390869 | 3 | 192053149:192053253:192078216:192078327:192444969:192444982 | 192078216:192078327 | ENSG00000114279.9 | ENST00000445105.2,ENST00000264730.3,ENST00000450716.1,ENST00000418610.1 |
| 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 FGF12 |
| 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 |
| ENST00000454309 | 191888246 | 191888445 | Frame-shift |
| ENST00000454309 | 192078216 | 192078327 | In-frame |
| 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 |
| ENST00000454309 | 191888246 | 191888445 | Frame-shift |
| ENST00000454309 | 192078216 | 192078327 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGF12 |
| 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 |
| ENST00000454309 | 3075 | 243 | 192078216 | 192078327 | 1026 | 1136 | 66 | 103 |
| 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 |
| ENST00000454309 | 3075 | 243 | 192078216 | 192078327 | 1026 | 1136 | 66 | 103 |
| 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 |
| P61328 | 66 | 103 | 1 | 66 | Alternative sequence | ID=VSP_010222;Note=In isoform 2. MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKRPVRRRP->MESK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10049777,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref |
| P61328 | 66 | 103 | 73 | 79 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 83 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 93 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 1 | 243 | Chain | ID=PRO_0000147604;Note=Fibroblast growth factor 12 |
| P61328 | 66 | 103 | 102 | 104 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 80 | 82 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| 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 |
| P61328 | 66 | 103 | 1 | 66 | Alternative sequence | ID=VSP_010222;Note=In isoform 2. MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKRPVRRRP->MESK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10049777,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref |
| P61328 | 66 | 103 | 73 | 79 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 83 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 93 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 1 | 243 | Chain | ID=PRO_0000147604;Note=Fibroblast growth factor 12 |
| P61328 | 66 | 103 | 102 | 104 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
| P61328 | 66 | 103 | 80 | 82 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q1U |
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SNVs in the skipped exons for FGF12 |
| - 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-A39Y-01 | exon_skip_390867 | 191888247 | 191888445 | 191888399 | 191888399 | Frame_Shift_Del | T | - | p.N154fs |
| BLCA | TCGA-E5-A2PC-01 | exon_skip_390867 | 191888247 | 191888445 | 191888334 | 191888334 | Nonsense_Mutation | C | A | p.G114* |
| BLCA | TCGA-E5-A2PC-01 | exon_skip_390867 | 191888247 | 191888445 | 191888334 | 191888334 | Nonsense_Mutation | C | A | p.G176* |
| LUAD | TCGA-78-7167-01 | exon_skip_390867 | 191888247 | 191888445 | 191888341 | 191888341 | Nonsense_Mutation | C | T | p.W173* |
| UCEC | TCGA-AP-A051-01 | exon_skip_390867 | 191888247 | 191888445 | 191888349 | 191888349 | Nonsense_Mutation | G | A | p.R171* |
| LIHC | TCGA-DD-AADG-01 | exon_skip_390869 exon_skip_390868 | 192078217 | 192078327 | 192078328 | 192078328 | Splice_Site | C | T | . |
| - 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 |
| HT115_LARGE_INTESTINE | 191888247 | 191888445 | 191888366 | 191888366 | Missense_Mutation | C | T | p.R165H |
| SUM149PT_BREAST | 191888247 | 191888445 | 191888411 | 191888411 | Missense_Mutation | G | T | p.S150Y |
| SAOS2_BONE | 192078217 | 192078327 | 192078223 | 192078223 | Missense_Mutation | C | T | p.D102N |
| TT_OESOPHAGUS | 192078217 | 192078327 | 192078233 | 192078233 | Missense_Mutation | G | T | p.D98E |
| LCLC97TM1_LUNG | 192078217 | 192078327 | 192078249 | 192078249 | Missense_Mutation | A | G | p.I93T |
| RERFLCFM_LUNG | 192078217 | 192078327 | 192078265 | 192078265 | Missense_Mutation | G | C | p.H88D |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 191888247 | 191888445 | 191888307 | 191888307 | Nonsense_Mutation | T | A | p.K185* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGF12 |
| 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 FGF12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGF12 |
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RelatedDrugs for FGF12 |
| 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 FGF12 |
| 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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