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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for DDHD1 |
 Gene summary |
| Gene information | Gene symbol | DDHD1 | Gene ID | 80821 |
| Gene name | DDHD domain containing 1 | |
| Synonyms | PA-PLA1|PAPLA1|SPG28 | |
| Cytomap | 14q22.1 | |
| Type of gene | protein-coding | |
| Description | phospholipase DDHD1phosphatidic acid-preferring phospholipase A1 homologphosphatidic acid-preferring phospholipase A1-like proteinspastic paraplegia 28 (autosomal recessive) | |
| 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 |
| DDHD1 | GO:0090141 | positive regulation of mitochondrial fission | 24599962 |
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Gene structures and expression levels for DDHD1 |
| 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. |
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ENSG00000100523
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000612692.4 | DDHD1-210:protein_coding:DDHD1 | 3.043631e+01 | 5.118265e+00 | 1.329853e-03 | 1.788113e-02 |
| CB | DOWN | ENST00000612692.4 | DDHD1-210:protein_coding:DDHD1 | 6.688810e+02 | -8.732873e-01 | 9.352333e-06 | 9.966774e-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 DDHD1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_118078 | chr14 | 53055660:53055912:53058477:53058626:53061126:53061201 | 53058477:53058626 |
| exon_skip_149002 | chr14 | 53054438:53054629:53055660:53055912:53058477:53058626 | 53055660:53055912 |
| exon_skip_159035 | chr14 | 53093322:53093444:53103031:53103051:53103683:53103856 | 53103031:53103051 |
| exon_skip_18851 | chr14 | 53046502:53046949:53051844:53051927:53054438:53054629 | 53051844:53051927 |
| exon_skip_19504 | chr14 | 53046027:53046949:53051844:53051927:53054438:53054629 | 53051844:53051927 |
| exon_skip_231649 | chr14 | 53091911:53091932:53093316:53093444:53103683:53103856 | 53093316:53093444 |
| exon_skip_289984 | chr14 | 53093425:53093444:53103031:53103051:53103683:53103856 | 53103031:53103051 |
| exon_skip_45976 | chr14 | 53091911:53091932:53093316:53093444:53103031:53103051 | 53093316:53093444 |
| exon_skip_75754 | chr14 | 53046363:53046949:53051844:53051927:53054438:53054629 | 53051844:53051927 |
| exon_skip_94059 | chr14 | 53073741:53073847:53091785:53091932:53093316:53093444 | 53091785:53091932 |
| 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 DDHD1 |
| 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 |
| ENST00000323669 | 53091785 | 53091932 | Frame-shift |
| ENST00000323669 | 53051844 | 53051927 | In-frame |
| ENST00000323669 | 53058477 | 53058626 | In-frame |
| ENST00000323669 | 53093316 | 53093444 | 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 |
| ENST00000323669 | 53091785 | 53091932 | Frame-shift |
| ENST00000323669 | 53051844 | 53051927 | In-frame |
| ENST00000323669 | 53093316 | 53093444 | 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 |
| ENST00000323669 | 53055660 | 53055912 | Frame-shift |
| ENST00000323669 | 53091785 | 53091932 | Frame-shift |
| ENST00000323669 | 53051844 | 53051927 | In-frame |
| ENST00000323669 | 53058477 | 53058626 | In-frame |
| ENST00000323669 | 53093316 | 53093444 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DDHD1 |
p-ENSG00000100523_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 |
| ENST00000323669 | 5520 | 900 | 53093316 | 53093444 | 1013 | 1140 | 337 | 380 |
| ENST00000323669 | 5520 | 900 | 53058477 | 53058626 | 1843 | 1991 | 614 | 663 |
| ENST00000323669 | 5520 | 900 | 53051844 | 53051927 | 2438 | 2520 | 812 | 840 |
| 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 |
| ENST00000323669 | 5520 | 900 | 53093316 | 53093444 | 1013 | 1140 | 337 | 380 |
| ENST00000323669 | 5520 | 900 | 53051844 | 53051927 | 2438 | 2520 | 812 | 840 |
| 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 |
| ENST00000323669 | 5520 | 900 | 53093316 | 53093444 | 1013 | 1140 | 337 | 380 |
| ENST00000323669 | 5520 | 900 | 53058477 | 53058626 | 1843 | 1991 | 614 | 663 |
| ENST00000323669 | 5520 | 900 | 53051844 | 53051927 | 2438 | 2520 | 812 | 840 |
| 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 |
| Q8NEL9 | 337 | 380 | 1 | 418 | Alternative sequence | ID=VSP_008628;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11214970,ECO:0000303|PubMed:14702039;Dbxref=PMID:11214970,PMID:14702039 |
| Q8NEL9 | 337 | 380 | 337 | 337 | Alternative sequence | ID=VSP_045340;Note=In isoform 4. D->DGSGINYS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NEL9 | 337 | 380 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 614 | 663 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 614 | 663 | 611 | 886 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
| Q8NEL9 | 614 | 663 | 662 | 662 | Mutagenesis | Note=Markedly decreased enzymatic activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22922100;Dbxref=PMID:22922100 |
| Q8NEL9 | 812 | 840 | 813 | 841 | Alternative sequence | ID=VSP_008629;Note=In isoform 2%2C isoform 3 and isoform 4. YFRLQESFFNLPQLLFPENVMQNKDNALV->L;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11214970,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:1121497 |
| Q8NEL9 | 812 | 840 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 812 | 840 | 611 | 886 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
| 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 |
| Q8NEL9 | 337 | 380 | 1 | 418 | Alternative sequence | ID=VSP_008628;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11214970,ECO:0000303|PubMed:14702039;Dbxref=PMID:11214970,PMID:14702039 |
| Q8NEL9 | 337 | 380 | 337 | 337 | Alternative sequence | ID=VSP_045340;Note=In isoform 4. D->DGSGINYS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NEL9 | 337 | 380 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 812 | 840 | 813 | 841 | Alternative sequence | ID=VSP_008629;Note=In isoform 2%2C isoform 3 and isoform 4. YFRLQESFFNLPQLLFPENVMQNKDNALV->L;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11214970,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:1121497 |
| Q8NEL9 | 812 | 840 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 812 | 840 | 611 | 886 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
| 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 |
| Q8NEL9 | 337 | 380 | 1 | 418 | Alternative sequence | ID=VSP_008628;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11214970,ECO:0000303|PubMed:14702039;Dbxref=PMID:11214970,PMID:14702039 |
| Q8NEL9 | 337 | 380 | 337 | 337 | Alternative sequence | ID=VSP_045340;Note=In isoform 4. D->DGSGINYS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NEL9 | 337 | 380 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 614 | 663 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 614 | 663 | 611 | 886 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
| Q8NEL9 | 614 | 663 | 662 | 662 | Mutagenesis | Note=Markedly decreased enzymatic activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22922100;Dbxref=PMID:22922100 |
| Q8NEL9 | 812 | 840 | 813 | 841 | Alternative sequence | ID=VSP_008629;Note=In isoform 2%2C isoform 3 and isoform 4. YFRLQESFFNLPQLLFPENVMQNKDNALV->L;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11214970,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:1121497 |
| Q8NEL9 | 812 | 840 | 1 | 900 | Chain | ID=PRO_0000079845;Note=Phospholipase DDHD1 |
| Q8NEL9 | 812 | 840 | 611 | 886 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DDHD1 |
| 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 DDHD1 |
| - 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 DDHD1 |
| 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 DDHD1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_19504 | rs944454 | chr14:53017134 | 6.265854e-04 | 4.048460e-02 |
| HCC | exon_skip_19504 | rs944453 | chr14:53017766 | 6.265854e-04 | 4.048460e-02 |
| HCC | exon_skip_19504 | rs2358080 | chr14:53029071 | 6.861168e-04 | 4.352926e-02 |
| HCC | exon_skip_19504 | rs4898778 | chr14:53062951 | 6.861168e-04 | 4.352926e-02 |
| HCC | exon_skip_19504 | rs1959351 | chr14:53073531 | 6.861168e-04 | 4.352926e-02 |
| HCC | exon_skip_19504 | rs7153762 | chr14:53078149 | 6.861168e-04 | 4.352926e-02 |
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Correlation with RNA binding proteins (RBPs) for DDHD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| PCC | PTBP1 | exon_skip_18851 | 4.944348e-01 | 3.683112e-14 |
| TC | KHDRBS3 | exon_skip_75754 | -4.415801e-01 | 6.329242e-09 |
| TC | NUP42 | exon_skip_75754 | -4.207993e-01 | 3.688669e-08 |
| TC | RALYL | exon_skip_75754 | -5.871885e-01 | 5.110802e-16 |
| TC | PTBP1 | exon_skip_75754 | 5.548177e-01 | 3.903977e-14 |
| TC | PTBP3 | exon_skip_159035 | 4.382732e-01 | 1.058535e-07 |
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RelatedDrugs for DDHD1 |
| 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 DDHD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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