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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 AMPH |
Gene summary |
Gene information | Gene symbol | AMPH | Gene ID | 273 |
Gene name | amphiphysin | |
Synonyms | AMPH1 | |
Cytomap | 7p14.1 | |
Type of gene | protein-coding | |
Description | amphiphysinamphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)amphiphysin I | |
Modification date | 20200313 | |
UniProtAcc | H0Y5S4, | |
Context | - 23399914(Increased Expression of BIN1 Mediates Alzheimer Genetic Risk by Modulating Tau Pathology) |
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 AMPH |
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 |
CB | UP | ENST00000441628.5 | AMPH-203:protein_coding:AMPH | 4.992547e+01 | 1.379936e+00 | 6.861403e-15 | 2.591734e-12 |
CB | UP | ENST00000471913.5 | AMPH-208:lncRNA:AMPH | 6.627737e+01 | 1.037119e+00 | 2.568641e-12 | 3.261098e-10 |
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 AMPH |
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_100748 | chr7 | 38394184:38394214:38417825:38417950:38422421:38422477 | 38417825:38417950 |
exon_skip_134958 | chr7 | 38461283:38461411:38462975:38463113:38465467:38465549 | 38462975:38463113 |
exon_skip_19862 | chr7 | 38426954:38426986:38429056:38429577:38429842:38429865 | 38429056:38429577 |
exon_skip_222819 | chr7 | 38394070:38394214:38417825:38417950:38422421:38422477 | 38417825:38417950 |
exon_skip_264137 | chr7 | 38491050:38491145:38494433:38494527:38503650:38503704 | 38494433:38494527 |
exon_skip_26983 | chr7 | 38391988:38392017:38394005:38394214:38417825:38417950 | 38394005:38394214 |
exon_skip_285750 | chr7 | 38394134:38394214:38417825:38417950:38422421:38422477 | 38417825:38417950 |
exon_skip_296443 | chr7 | 38417825:38417950:38422421:38422477:38426954:38426986 | 38422421:38422477 |
exon_skip_40076 | chr7 | 38429056:38429577:38429842:38429865:38432189:38432212 | 38429842:38429865 |
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 AMPH |
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 |
ENST00000356264 | 38462975 | 38463113 | Frame-shift |
ENST00000356264 | 38417825 | 38417950 | 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 |
ENST00000356264 | 38462975 | 38463113 | Frame-shift |
ENST00000356264 | 38417825 | 38417950 | 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 |
ENST00000356264 | 38462975 | 38463113 | Frame-shift |
ENST00000356264 | 38494433 | 38494527 | Frame-shift |
ENST00000356264 | 38394005 | 38394214 | In-frame |
ENST00000356264 | 38417825 | 38417950 | In-frame |
ENST00000356264 | 38422421 | 38422477 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AMPH |
p-ENSG00000078053_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 |
ENST00000356264 | 3435 | 695 | 38417825 | 38417950 | 1489 | 1613 | 424 | 465 |
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 |
ENST00000356264 | 3435 | 695 | 38417825 | 38417950 | 1489 | 1613 | 424 | 465 |
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 |
ENST00000356264 | 3435 | 695 | 38422421 | 38422477 | 1432 | 1487 | 405 | 423 |
ENST00000356264 | 3435 | 695 | 38417825 | 38417950 | 1489 | 1613 | 424 | 465 |
ENST00000356264 | 3435 | 695 | 38394005 | 38394214 | 1615 | 1823 | 466 | 535 |
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 |
P49418 | 424 | 465 | 425 | 466 | Alternative sequence | ID=VSP_000245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9513187;Dbxref=PMID:9513187 |
P49418 | 424 | 465 | 1 | 695 | Chain | ID=PRO_0000192947;Note=Amphiphysin |
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 |
P49418 | 424 | 465 | 425 | 466 | Alternative sequence | ID=VSP_000245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9513187;Dbxref=PMID:9513187 |
P49418 | 424 | 465 | 1 | 695 | Chain | ID=PRO_0000192947;Note=Amphiphysin |
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 |
P49418 | 405 | 423 | 1 | 695 | Chain | ID=PRO_0000192947;Note=Amphiphysin |
P49418 | 424 | 465 | 425 | 466 | Alternative sequence | ID=VSP_000245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9513187;Dbxref=PMID:9513187 |
P49418 | 424 | 465 | 1 | 695 | Chain | ID=PRO_0000192947;Note=Amphiphysin |
P49418 | 466 | 535 | 425 | 466 | Alternative sequence | ID=VSP_000245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9513187;Dbxref=PMID:9513187 |
P49418 | 466 | 535 | 1 | 695 | Chain | ID=PRO_0000192947;Note=Amphiphysin |
P49418 | 466 | 535 | 506 | 506 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q7TQF7 |
P49418 | 466 | 535 | 496 | 496 | Natural variant | ID=VAR_053006;Note=K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs35024632,PMID:15489334 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AMPH |
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 AMPH |
- 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 AMPH |
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 AMPH |
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 AMPH |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
HCC | RBM6 | exon_skip_222819 | -4.149952e-01 | 2.495903e-12 |
TC | NUP42 | exon_skip_285750 | 4.643177e-01 | 1.315244e-09 |
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RelatedDrugs for AMPH |
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 AMPH |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |