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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 FH |
Gene summary |
Gene information | Gene symbol | FH | Gene ID | 2271 |
Gene name | fumarate hydratase | |
Synonyms | FMRD|HLRCC|HsFH|LRCC|MCL|MCUL1 | |
Cytomap | 1q43 | |
Type of gene | protein-coding | |
Description | fumarate hydratase, mitochondrialepididymis secretory sperm binding proteinfumarase | |
Modification date | 20200313 | |
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 |
FH | GO:0006106 | fumarate metabolic process | 30761759 |
FH | GO:0006108 | malate metabolic process | 30761759 |
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Gene structures and expression levels for FH |
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 |
TC | DOWN | ENST00000359637.2 | CFH-201:protein_coding:CFH | 5.138750e+00 | -4.775263e+00 | 5.388711e-08 | 3.693979e-06 |
TC | UP | ENST00000630130.2 | CFH-206:protein_coding:CFH | 1.408637e+02 | 1.435884e+00 | 3.241694e-07 | 1.613878e-05 |
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 FH |
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_162310 | chr1 | 241506003:241506168:241508603:241508785:241511967:241512143 | 241508603:241508785 |
exon_skip_40028 | chr1 | 241500437:241500590:241502443:241502570:241504042:241504245 | 241502443:241502570 |
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 FH |
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 |
ENST00000366560 | 241502443 | 241502570 | Frame-shift |
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 |
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 |
ENST00000366560 | 241502443 | 241502570 | Frame-shift |
ENST00000366560 | 241508603 | 241508785 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FH |
p-ENSG00000091483_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 |
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 |
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 |
ENST00000366560 | 1814 | 510 | 241508603 | 241508785 | 595 | 776 | 185 | 245 |
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 |
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 |
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 |
P07954 | 185 | 245 | 229 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
P07954 | 185 | 245 | 237 | 243 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
P07954 | 185 | 245 | 45 | 510 | Chain | ID=PRO_0000010319;Note=Fumarate hydratase%2C mitochondrial |
P07954 | 185 | 245 | 190 | 205 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
P07954 | 185 | 245 | 207 | 224 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
P07954 | 185 | 245 | 244 | 264 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
P07954 | 185 | 245 | 213 | 213 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97807 |
P07954 | 185 | 245 | 223 | 223 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97807 |
P07954 | 185 | 245 | 223 | 223 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97807 |
P07954 | 185 | 245 | 185 | 185 | Natural variant | ID=VAR_013500;Note=In HLRCC. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11865300;Dbxref=dbSNP:rs779707997,PMID:11865300 |
P07954 | 185 | 245 | 230 | 230 | Natural variant | ID=VAR_002445;Note=In FMRD and HLRCC. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11865300,ECO:0000269|PubMed:9635293;Dbxref=dbSNP:rs752232718,PMID:11865300,PMID:9635293 |
P07954 | 185 | 245 | 233 | 233 | Natural variant | ID=VAR_013501;Note=In HLRCC. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11865300;Dbxref=dbSNP:rs121913123,PMID:11865300 |
P07954 | 185 | 245 | 186 | 188 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P07954 | 185 | 245 | 187 | 189 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
P07954 | 185 | 245 | 225 | 227 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UPP |
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3'-UTR located exon skipping events that lost miRNA binding sites in FH |
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 FH |
- 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 FH |
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 FH |
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 FH |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FH |
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 FH |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |