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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 DIAPH1 |
Gene summary |
Gene information | Gene symbol | DIAPH1 | Gene ID | 1729 |
Gene name | diaphanous related formin 1 | |
Synonyms | DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1 | |
Cytomap | 5q31.3 | |
Type of gene | protein-coding | |
Description | protein diaphanous homolog 1 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 29966194(Diaphanous 1 DIAPH1) is Highly Expressed in the Aged Human Medial Temporal Cortex and Upregulated in Myeloid Cells During Alzheimer's Disease) |
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 DIAPH1 |
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 | ENST00000472516.1 | DIAPH1-207:retained_intron:DIAPH1 | 1.238193e+00 | 1.014155e+00 | 8.298509e-04 | 4.412953e-03 |
CB | UP | ENST00000523100.5 | DIAPH1-213:nonsense_mediated_decay:DIAPH1 | 1.971594e+00 | 1.212633e+00 | 2.020489e-03 | 9.295112e-03 |
CB | UP | ENST00000647330.1 | DIAPH1-217:nonsense_mediated_decay:DIAPH1 | 6.413150e+00 | 8.382008e-01 | 2.899965e-03 | 1.255270e-02 |
CB | UP | ENST00000524301.1 | DIAPH1-214:lncRNA:DIAPH1 | 6.977026e-01 | 1.016100e+00 | 1.107451e-02 | 3.779535e-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 DIAPH1 |
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_111301 | chr5 | 141587042:141587197:141588224:141588250:141618798:141618914 | 141588224:141588250 |
exon_skip_131035 | chr5 | 141516625:141517008:141518637:141518787:141524143:141524229 | 141518637:141518787 |
exon_skip_133320 | chr5 | 141516923:141517008:141518637:141518787:141524143:141524229 | 141518637:141518787 |
exon_skip_179046 | chr5 | 141516625:141517008:141518944:141518996:141524143:141524229 | 141518944:141518996 |
exon_skip_217800 | chr5 | 141583519:141583615:141584124:141584225:141587042:141587176 | 141584124:141584225 |
exon_skip_256105 | chr5 | 141534335:141534433:141571428:141571436:141571926:141572040 | 141571428:141571436 |
exon_skip_274129 | chr5 | 141580744:141580883:141581915:141582056:141582312:141582375 | 141581915:141582056 |
exon_skip_38671 | chr5 | 141516923:141517008:141518944:141518996:141524143:141524229 | 141518944:141518996 |
exon_skip_87006 | chr5 | 141529172:141529273:141529603:141529697:141534335:141534433 | 141529603:141529697 |
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 DIAPH1 |
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 |
ENST00000389054 | 141529603 | 141529697 | Frame-shift |
ENST00000389054 | 141588224 | 141588250 | 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 |
ENST00000389054 | 141529603 | 141529697 | Frame-shift |
ENST00000389054 | 141588224 | 141588250 | 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 |
ENST00000389054 | 141529603 | 141529697 | Frame-shift |
ENST00000389054 | 141571428 | 141571436 | In-frame |
ENST00000389054 | 141584124 | 141584225 | In-frame |
ENST00000389054 | 141588224 | 141588250 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DIAPH1 |
p-ENSG00000131504_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 |
ENST00000389054 | 5812 | 1272 | 141584124 | 141584225 | 442 | 542 | 100 | 133 |
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 |
O60610 | 100 | 133 | 1 | 1272 | Chain | ID=PRO_0000194893;Note=Protein diaphanous homolog 1 |
O60610 | 100 | 133 | 84 | 449 | Domain | Note=GBD/FH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00579 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DIAPH1 |
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 DIAPH1 |
- 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 DIAPH1 |
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 DIAPH1 |
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 DIAPH1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DIAPH1 |
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 DIAPH1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |