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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
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 | 20200315 | |
UniProtAcc | ||
Context |
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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Gene structures and expression levels for FGF12 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PG | DOWN | ENST00000418610.1 | FGF12-201:protein_coding:FGF12 | 6.473962e+00 | -8.047560e-01 | 2.776194e-04 | 5.796337e-03 |
CB | UP | ENST00000440901.4 | FGF12-203:lncRNA:FGF12 | 2.360066e+01 | 1.543606e+00 | 3.351621e-03 | 1.414380e-02 |
CB | UP | ENST00000450716.5 | FGF12-206:protein_coding:FGF12 | 4.554170e+00 | 3.229346e+00 | 3.506102e-03 | 1.466800e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FGF12 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_191592 | chr3 | 192335361:192335464:192360428:192360538:192727181:192727323 | 192360428:192360538 |
exon_skip_200611 | chr3 | 192144060:192144127:192170458:192170656:192335361:192335464 | 192170458:192170656 |
exon_skip_289713 | chr3 | 192170564:192170656:192335361:192335464:192360428:192360538 | 192335361:192335464 |
exon_skip_70054 | chr3 | 192335361:192335464:192360428:192360538:192408025:192409049 | 192360428:192360538 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000454309 | 192360428 | 192360538 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000454309 | 192360428 | 192360538 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000454309 | 192170458 | 192170656 | Frame-shift |
ENST00000454309 | 192335361 | 192335464 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FGF12 |
p-ENSG00000114279_img4.png |
Loci of skipped exons in ROSMAP 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 | 192360428 | 192360538 | 1026 | 1135 | 66 | 103 |
Loci of skipped exons in MSBB 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 | 192360428 | 192360538 | 1026 | 1135 | 66 | 103 |
Loci of skipped exons in Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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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3'-UTR located exon skipping events that lost miRNA binding sites in FGF12 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for FGF12 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for FGF12 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGF12 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for FGF12 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FGF12 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
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 |