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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 FHAD1 |
Gene summary |
Gene information | Gene symbol | FHAD1 | Gene ID | 114827 |
Gene name | forkhead associated phosphopeptide binding domain 1 | |
Synonyms | - | |
Cytomap | 1p36.21 | |
Type of gene | protein-coding | |
Description | forkhead-associated domain-containing protein 1FHA domain-containing protein 1forkhead-associated (FHA) phosphopeptide binding domain 1 | |
Modification date | 20200313 | |
UniProtAcc | B1AJZ9, | |
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 FHAD1 |
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 |
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 FHAD1 |
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_126796 | chr1 | 15316378:15316467:15317824:15317928:15327059:15327142 | 15317824:15317928 |
exon_skip_170364 | chr1 | 15296684:15296793:15301205:15301441:15308613:15308736 | 15301205:15301441 |
exon_skip_174383 | chr1 | 15251785:15251877:15272323:15272529:15289399:15289666 | 15272323:15272529 |
exon_skip_185400 | chr1 | 15251785:15251877:15272323:15272529:15289399:15289641 | 15272323:15272529 |
exon_skip_195368 | chr1 | 15316378:15316467:15317824:15317928:15324452:15324559 | 15317824:15317928 |
exon_skip_226523 | chr1 | 15382028:15382193:15391210:15391263:15397297:15397449 | 15391210:15391263 |
exon_skip_280436 | chr1 | 15345431:15345523:15349042:15349149:15352877:15352984 | 15349042:15349149 |
exon_skip_74972 | chr1 | 15382028:15382193:15391210:15391263:15397297:15397516 | 15391210:15391263 |
exon_skip_80595 | chr1 | 15305780:15305819:15308613:15308736:15313057:15313187 | 15308613:15308736 |
exon_skip_97495 | chr1 | 15317824:15317928:15324452:15324559:15327059:15327142 | 15324452:15324559 |
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 FHAD1 |
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 |
ENST00000358897 | 15272323 | 15272529 | In-frame |
ENST00000375998 | 15272323 | 15272529 | In-frame |
ENST00000358897 | 15317824 | 15317928 | In-frame |
ENST00000375998 | 15317824 | 15317928 | In-frame |
ENST00000358897 | 15324452 | 15324559 | In-frame |
ENST00000375998 | 15324452 | 15324559 | In-frame |
ENST00000358897 | 15349042 | 15349149 | In-frame |
ENST00000375998 | 15349042 | 15349149 | 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 |
ENST00000358897 | 15317824 | 15317928 | In-frame |
ENST00000375998 | 15317824 | 15317928 | In-frame |
ENST00000358897 | 15324452 | 15324559 | In-frame |
ENST00000375998 | 15324452 | 15324559 | In-frame |
ENST00000358897 | 15349042 | 15349149 | In-frame |
ENST00000375998 | 15349042 | 15349149 | 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 |
ENST00000358897 | 15272323 | 15272529 | In-frame |
ENST00000375998 | 15272323 | 15272529 | In-frame |
ENST00000358897 | 15301205 | 15301441 | In-frame |
ENST00000375998 | 15301205 | 15301441 | In-frame |
ENST00000358897 | 15317824 | 15317928 | In-frame |
ENST00000375998 | 15317824 | 15317928 | In-frame |
ENST00000358897 | 15324452 | 15324559 | In-frame |
ENST00000375998 | 15324452 | 15324559 | In-frame |
ENST00000358897 | 15349042 | 15349149 | In-frame |
ENST00000375998 | 15349042 | 15349149 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FHAD1 |
p-ENSG00000142621_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 |
ENST00000358897 | 5107 | 1412 | 15272323 | 15272529 | 233 | 438 | 31 | 100 |
ENST00000375998 | 4372 | 1412 | 15272323 | 15272529 | 95 | 300 | 31 | 100 |
ENST00000358897 | 5107 | 1412 | 15317824 | 15317928 | 1400 | 1503 | 420 | 455 |
ENST00000375998 | 4372 | 1412 | 15317824 | 15317928 | 1262 | 1365 | 420 | 455 |
ENST00000358897 | 5107 | 1412 | 15324452 | 15324559 | 1505 | 1611 | 455 | 491 |
ENST00000375998 | 4372 | 1412 | 15324452 | 15324559 | 1367 | 1473 | 455 | 491 |
ENST00000358897 | 5107 | 1412 | 15349042 | 15349149 | 2420 | 2526 | 760 | 796 |
ENST00000375998 | 4372 | 1412 | 15349042 | 15349149 | 2282 | 2388 | 760 | 796 |
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 |
ENST00000358897 | 5107 | 1412 | 15317824 | 15317928 | 1400 | 1503 | 420 | 455 |
ENST00000375998 | 4372 | 1412 | 15317824 | 15317928 | 1262 | 1365 | 420 | 455 |
ENST00000358897 | 5107 | 1412 | 15324452 | 15324559 | 1505 | 1611 | 455 | 491 |
ENST00000375998 | 4372 | 1412 | 15324452 | 15324559 | 1367 | 1473 | 455 | 491 |
ENST00000358897 | 5107 | 1412 | 15349042 | 15349149 | 2420 | 2526 | 760 | 796 |
ENST00000375998 | 4372 | 1412 | 15349042 | 15349149 | 2282 | 2388 | 760 | 796 |
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 |
ENST00000358897 | 5107 | 1412 | 15272323 | 15272529 | 233 | 438 | 31 | 100 |
ENST00000375998 | 4372 | 1412 | 15272323 | 15272529 | 95 | 300 | 31 | 100 |
ENST00000358897 | 5107 | 1412 | 15301205 | 15301441 | 818 | 1053 | 226 | 305 |
ENST00000375998 | 4372 | 1412 | 15301205 | 15301441 | 680 | 915 | 226 | 305 |
ENST00000358897 | 5107 | 1412 | 15317824 | 15317928 | 1400 | 1503 | 420 | 455 |
ENST00000375998 | 4372 | 1412 | 15317824 | 15317928 | 1262 | 1365 | 420 | 455 |
ENST00000358897 | 5107 | 1412 | 15324452 | 15324559 | 1505 | 1611 | 455 | 491 |
ENST00000375998 | 4372 | 1412 | 15324452 | 15324559 | 1367 | 1473 | 455 | 491 |
ENST00000358897 | 5107 | 1412 | 15349042 | 15349149 | 2420 | 2526 | 760 | 796 |
ENST00000375998 | 4372 | 1412 | 15349042 | 15349149 | 2282 | 2388 | 760 | 796 |
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 |
B1AJZ9 | 31 | 100 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 31 | 100 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 31 | 100 | 98 | 160 | Compositional bias | Note=Pro-rich |
B1AJZ9 | 31 | 100 | 98 | 160 | Compositional bias | Note=Pro-rich |
B1AJZ9 | 31 | 100 | 18 | 69 | Domain | Note=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086 |
B1AJZ9 | 31 | 100 | 18 | 69 | Domain | Note=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086 |
B1AJZ9 | 420 | 455 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 420 | 455 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 420 | 455 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 420 | 455 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 455 | 491 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 455 | 491 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 455 | 491 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 455 | 491 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 758 | 793 | Alternative sequence | ID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
B1AJZ9 | 760 | 796 | 758 | 793 | Alternative sequence | ID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
B1AJZ9 | 760 | 796 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 760 | 796 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 760 | 796 | 692 | 963 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 692 | 963 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 763 | 763 | Natural variant | ID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178 |
B1AJZ9 | 760 | 796 | 763 | 763 | Natural variant | ID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178 |
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 |
B1AJZ9 | 420 | 455 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 420 | 455 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 420 | 455 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 420 | 455 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 455 | 491 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 455 | 491 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 455 | 491 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 455 | 491 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 758 | 793 | Alternative sequence | ID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
B1AJZ9 | 760 | 796 | 758 | 793 | Alternative sequence | ID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
B1AJZ9 | 760 | 796 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 760 | 796 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 760 | 796 | 692 | 963 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 692 | 963 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 763 | 763 | Natural variant | ID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178 |
B1AJZ9 | 760 | 796 | 763 | 763 | Natural variant | ID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178 |
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 |
B1AJZ9 | 31 | 100 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 31 | 100 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 31 | 100 | 98 | 160 | Compositional bias | Note=Pro-rich |
B1AJZ9 | 31 | 100 | 98 | 160 | Compositional bias | Note=Pro-rich |
B1AJZ9 | 31 | 100 | 18 | 69 | Domain | Note=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086 |
B1AJZ9 | 31 | 100 | 18 | 69 | Domain | Note=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086 |
B1AJZ9 | 226 | 305 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 226 | 305 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 226 | 305 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 226 | 305 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 420 | 455 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 420 | 455 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 420 | 455 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 420 | 455 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 455 | 491 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 455 | 491 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 455 | 491 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 455 | 491 | 250 | 466 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 758 | 793 | Alternative sequence | ID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
B1AJZ9 | 760 | 796 | 758 | 793 | Alternative sequence | ID=VSP_035366;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
B1AJZ9 | 760 | 796 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 760 | 796 | 1 | 1412 | Chain | ID=PRO_0000349365;Note=Forkhead-associated domain-containing protein 1 |
B1AJZ9 | 760 | 796 | 692 | 963 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 692 | 963 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
B1AJZ9 | 760 | 796 | 763 | 763 | Natural variant | ID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178 |
B1AJZ9 | 760 | 796 | 763 | 763 | Natural variant | ID=VAR_046372;Note=E->K;Dbxref=dbSNP:rs12126178 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FHAD1 |
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 FHAD1 |
- 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 FHAD1 |
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 FHAD1 |
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 FHAD1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FHAD1 |
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 FHAD1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |