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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for DAB1 |
 Gene summary |
| Gene information | Gene symbol | DAB1 | Gene ID | 1600 |
| Gene name | DAB1, reelin adaptor protein | |
| Synonyms | SCA37 | |
| Cytomap | 1p32.2 | |
| Type of gene | protein-coding | |
| Description | disabled homolog 1Dab reelin signal transducer 1Dab, reelin signal transducer, homolog 1 | |
| Modification date | 20180522 | |
| UniProtAcc | O75553 | |
| Context | PubMed: DAB1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for DAB1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for DAB1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DAB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_27498 | 1 | 57463697:57463801:57476352:57476463:57476817:57476945 | 57476352:57476463 | ENSG00000173406.11 | ENST00000371234.4,ENST00000420954.2,ENST00000485760.1,ENST00000439789.2,ENST00000414851.2,ENST00000371236.2 |
| exon_skip_27499 | 1 | 57491653:57491716:57499058:57499106:57499195:57499246 | 57499058:57499106 | ENSG00000173406.11 | ENST00000371231.1,ENST00000420954.2,ENST00000439789.2,ENST00000371232.4 |
| exon_skip_27500 | 1 | 57491653:57491716:57499195:57499246:57528556:57528616 | 57499195:57499246 | ENSG00000173406.11 | ENST00000414851.2 |
| exon_skip_27502 | 1 | 57528562:57528616:57535032:57535098:57536695:57536734 | 57535032:57535098 | ENSG00000173406.11 | ENST00000371234.4,ENST00000371231.1,ENST00000485760.1,ENST00000371236.2 |
| exon_skip_27505 | 1 | 57535032:57535098:57536695:57536734:57537194:57537314 | 57536695:57536734 | ENSG00000173406.11 | ENST00000371234.4,ENST00000371231.1,ENST00000485760.1,ENST00000371236.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DAB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_27498 | 1 | 57463697:57463801:57476352:57476463:57476817:57476945 | 57476352:57476463 | ENSG00000173406.11 | ENST00000371236.2,ENST00000485760.1,ENST00000371234.4,ENST00000420954.2,ENST00000414851.2,ENST00000439789.2 |
| exon_skip_27499 | 1 | 57491653:57491716:57499058:57499106:57499195:57499246 | 57499058:57499106 | ENSG00000173406.11 | ENST00000420954.2,ENST00000439789.2,ENST00000371231.1,ENST00000371232.4 |
| exon_skip_27500 | 1 | 57491653:57491716:57499195:57499246:57528556:57528616 | 57499195:57499246 | ENSG00000173406.11 | ENST00000414851.2 |
| exon_skip_27502 | 1 | 57528562:57528616:57535032:57535098:57536695:57536734 | 57535032:57535098 | ENSG00000173406.11 | ENST00000371236.2,ENST00000485760.1,ENST00000371234.4,ENST00000371231.1 |
| exon_skip_27505 | 1 | 57535032:57535098:57536695:57536734:57537194:57537314 | 57536695:57536734 | ENSG00000173406.11 | ENST00000371236.2,ENST00000485760.1,ENST00000371234.4,ENST00000371231.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DAB1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371231 | 57499058 | 57499106 | In-frame |
| ENST00000371231 | 57535032 | 57535098 | In-frame |
| ENST00000371231 | 57536695 | 57536734 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371231 | 57499058 | 57499106 | In-frame |
| ENST00000371231 | 57535032 | 57535098 | In-frame |
| ENST00000371231 | 57536695 | 57536734 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DAB1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000371231 | 1819 | 588 | 57536695 | 57536734 | 594 | 632 | 186 | 199 |
| ENST00000371231 | 1819 | 588 | 57535032 | 57535098 | 633 | 698 | 199 | 221 |
| ENST00000371231 | 1819 | 588 | 57499058 | 57499106 | 810 | 857 | 258 | 274 |
| Loci of skipped exons in GTEx 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 |
| ENST00000371231 | 1819 | 588 | 57536695 | 57536734 | 594 | 632 | 186 | 199 |
| ENST00000371231 | 1819 | 588 | 57535032 | 57535098 | 633 | 698 | 199 | 221 |
| ENST00000371231 | 1819 | 588 | 57499058 | 57499106 | 810 | 857 | 258 | 274 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
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SNVs in the skipped exons for DAB1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_27499 | 57499059 | 57499106 | 57499071 | 57499071 | Frame_Shift_Del | A | - | p.F235fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_27500 | 57499196 | 57499246 | 57499223 | 57499223 | Frame_Shift_Del | A | - | p.F214fs |
| UCS | TCGA-N8-A56S-01 | exon_skip_27502 | 57535033 | 57535098 | 57535038 | 57535038 | Frame_Shift_Del | A | - | p.Y220fs |
| SKCM | TCGA-WE-A8ZO-06 | exon_skip_27500 | 57499196 | 57499246 | 57499222 | 57499222 | Nonsense_Mutation | C | A | p.E215* |
| GBM | TCGA-19-1390-01 | exon_skip_27502 | 57535033 | 57535098 | 57535099 | 57535099 | Splice_Site | C | T | p.Y200_splice |
| UCEC | TCGA-D1-A103-01 | exon_skip_27505 | 57536696 | 57536734 | 57536735 | 57536735 | Splice_Site | C | A | e6-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH322_LUNG | 57476353 | 57476463 | 57476375 | 57476375 | Missense_Mutation | C | A | p.G587V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57476353 | 57476463 | 57476378 | 57476378 | Missense_Mutation | G | T | p.A586D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 57476353 | 57476463 | 57476378 | 57476378 | Missense_Mutation | G | T | p.A586D |
| EFM192A_BREAST | 57476353 | 57476463 | 57476402 | 57476402 | Missense_Mutation | C | A | p.S578I |
| WM88_SKIN | 57476353 | 57476463 | 57476429 | 57476429 | Missense_Mutation | G | A | p.P569L |
| LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57476353 | 57476463 | 57476456 | 57476456 | Missense_Mutation | C | T | p.G560E |
| ML1_THYROID | 57499059 | 57499106 | 57499088 | 57499088 | Missense_Mutation | C | A | p.D265Y |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 57499196 | 57499246 | 57499230 | 57499230 | Missense_Mutation | T | A | p.E247V |
| HCT116_LARGE_INTESTINE | 57536696 | 57536734 | 57536716 | 57536716 | Missense_Mutation | C | T | p.V193I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DAB1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DAB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DAB1 |
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RelatedDrugs for DAB1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DAB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DAB1 | C0004352 | Autistic Disorder | 1 | CTD_human |
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