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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 DYRK1B |
 Gene summary |
| Gene information | Gene symbol | DYRK1B | Gene ID | 9149 |
| Gene name | dual specificity tyrosine phosphorylation regulated kinase 1B | |
| Synonyms | AOMS3|MIRK | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | dual specificity tyrosine-phosphorylation-regulated kinase 1Bdual specificity tyrosine-(Y)-phosphorylation regulated kinase 1Bminibrain-related kinasemirk protein kinase | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y463 | |
| Context | PubMed: DYRK1B [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 |
| DYRK1B | GO:0006468 | protein phosphorylation | 11980910 |
| DYRK1B | GO:0045893 | positive regulation of transcription, DNA-templated | 11980910 |
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Exon skipping events across known transcript of Ensembl for DYRK1B 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 DYRK1B |
| 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 DYRK1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318527 | 19 | 40316819:40316926:40317311:40317507:40317924:40318065 | 40317311:40317507 | ENSG00000105204.9 | ENST00000430012.2 |
| exon_skip_318529 | 19 | 40316819:40316926:40317311:40317627:40317924:40318065 | 40317311:40317627 | ENSG00000105204.9 | ENST00000593685.1,ENST00000323039.5 |
| exon_skip_318530 | 19 | 40317311:40317507:40317591:40317627:40317924:40318065 | 40317591:40317627 | ENSG00000105204.9 | ENST00000597639.1,ENST00000348817.3 |
| exon_skip_318532 | 19 | 40317924:40318065:40318149:40318296:40318936:40319223 | 40318149:40318296 | ENSG00000105204.9 | ENST00000593685.1,ENST00000323039.5,ENST00000597639.1,ENST00000430012.2,ENST00000348817.3 |
| exon_skip_318534 | 19 | 40320521:40320667:40321014:40321203:40321303:40321423 | 40321014:40321203 | ENSG00000105204.9 | ENST00000593685.1,ENST00000323039.5,ENST00000597639.1,ENST00000600611.1,ENST00000430012.2,ENST00000348817.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DYRK1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318527 | 19 | 40316819:40316926:40317311:40317507:40317924:40318065 | 40317311:40317507 | ENSG00000105204.9 | ENST00000430012.2 |
| exon_skip_318529 | 19 | 40316819:40316926:40317311:40317627:40317924:40318065 | 40317311:40317627 | ENSG00000105204.9 | ENST00000593685.1,ENST00000323039.5 |
| exon_skip_318530 | 19 | 40317311:40317507:40317591:40317627:40317924:40318065 | 40317591:40317627 | ENSG00000105204.9 | ENST00000348817.3,ENST00000597639.1 |
| exon_skip_318532 | 19 | 40317924:40318065:40318149:40318296:40318936:40319223 | 40318149:40318296 | ENSG00000105204.9 | ENST00000593685.1,ENST00000323039.5,ENST00000348817.3,ENST00000597639.1,ENST00000430012.2 |
| exon_skip_318534 | 19 | 40320521:40320667:40321014:40321203:40321303:40321423 | 40321014:40321203 | ENSG00000105204.9 | ENST00000593685.1,ENST00000323039.5,ENST00000348817.3,ENST00000597639.1,ENST00000430012.2,ENST00000600611.1 |
| 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 DYRK1B |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for DYRK1B |
| 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 |
| 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 |
| 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 DYRK1B |
| - 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. |
DYRK1B_DLBC_exon_skip_318529_psi_boxplot.png |
DYRK1B_ESCA_exon_skip_318529_psi_boxplot.png |
| - 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 |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_318527 | 40317312 | 40317507 | 40317456 | 40317456 | Frame_Shift_Del | G | - | p.L423fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_318529 | 40317312 | 40317627 | 40317456 | 40317456 | Frame_Shift_Del | G | - | p.L423fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_318529 | 40317312 | 40317627 | 40317617 | 40317617 | Frame_Shift_Del | C | - | p.G369fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_318530 | 40317592 | 40317627 | 40317617 | 40317617 | Frame_Shift_Del | C | - | p.G369fs |
| KICH | TCGA-KN-8431-01 | exon_skip_318534 | 40321015 | 40321203 | 40321175 | 40321176 | Frame_Shift_Ins | - | C | p.A71fs |
| DLBC | TCGA-GS-A9TZ-01 | exon_skip_318527 | 40317312 | 40317507 | 40317311 | 40317311 | Splice_Site | C | T | . |
| DLBC | TCGA-GS-A9TZ-01 | exon_skip_318529 | 40317312 | 40317627 | 40317311 | 40317311 | Splice_Site | C | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-GS-A9TZ-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_318527 | |
| Skipped exon start: 40317312 | |
| Skipped exon end: 40317507 | |
| Mutation start: 40317311 | |
| Mutation end: 40317311 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-GS-A9TZ-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_318529 | |
| Skipped exon start: 40317312 | |
| Skipped exon end: 40317627 | |
| Mutation start: 40317311 | |
| Mutation end: 40317311 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_318529_DLBC_TCGA-GS-A9TZ-01.png | |
exon_skip_449028_DLBC_TCGA-GS-A9TZ-01.png | |
exon_skip_457580_DLBC_TCGA-GS-A9TZ-01.png | |
exon_skip_457585_DLBC_TCGA-GS-A9TZ-01.png | |
exon_skip_473467_DLBC_TCGA-GS-A9TZ-01.png | |
| - 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 |
| SNU175_LARGE_INTESTINE | 40317312 | 40317507 | 40317456 | 40317456 | Frame_Shift_Del | G | - | p.L423fs |
| SNU175_LARGE_INTESTINE | 40317312 | 40317627 | 40317456 | 40317456 | Frame_Shift_Del | G | - | p.L423fs |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40317312 | 40317507 | 40317333 | 40317333 | Missense_Mutation | C | T | p.A464T |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40317312 | 40317627 | 40317333 | 40317333 | Missense_Mutation | C | T | p.A464T |
| LS411N_LARGE_INTESTINE | 40317312 | 40317507 | 40317455 | 40317455 | Missense_Mutation | A | T | p.L423Q |
| LS411N_LARGE_INTESTINE | 40317312 | 40317627 | 40317455 | 40317455 | Missense_Mutation | A | T | p.L423Q |
| HCC2450_LUNG | 40317312 | 40317627 | 40317582 | 40317582 | Missense_Mutation | C | G | p.V381L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40318150 | 40318296 | 40318163 | 40318163 | Missense_Mutation | C | T | p.S314N |
| OVK18_OVARY | 40318150 | 40318296 | 40318181 | 40318181 | Missense_Mutation | G | T | p.T308N |
| LNCAPCLONEFGC_PROSTATE | 40318150 | 40318296 | 40318182 | 40318182 | Missense_Mutation | T | C | p.T308A |
| HEC151_ENDOMETRIUM | 40318150 | 40318296 | 40318196 | 40318196 | Missense_Mutation | A | G | p.L303P |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40318150 | 40318296 | 40318265 | 40318265 | Missense_Mutation | C | T | p.R280H |
| LB2518MEL_SKIN | 40318150 | 40318296 | 40318280 | 40318280 | Missense_Mutation | T | C | p.Q275R |
| KYSE140_OESOPHAGUS | 40318150 | 40318296 | 40318288 | 40318288 | Missense_Mutation | C | A | p.Q272H |
| TMK1_STOMACH | 40321015 | 40321203 | 40321034 | 40321034 | Missense_Mutation | C | T | p.G118D |
| SNU1040_LARGE_INTESTINE | 40321015 | 40321203 | 40321058 | 40321058 | Missense_Mutation | C | T | p.R110H |
| SNU1040_LARGE_INTESTINE | 40321015 | 40321203 | 40321082 | 40321082 | Missense_Mutation | C | T | p.R102H |
| LB2518EBV_MATCHED_NORMAL_TISSUE | 40321015 | 40321203 | 40321082 | 40321082 | Missense_Mutation | C | T | p.R102H |
| LB2518MEL_SKIN | 40321015 | 40321203 | 40321082 | 40321082 | Missense_Mutation | C | T | p.R102H |
| SNU175_LARGE_INTESTINE | 40321015 | 40321203 | 40321193 | 40321193 | Missense_Mutation | G | A | p.A65V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DYRK1B |
| 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 DYRK1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DYRK1B |
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RelatedDrugs for DYRK1B |
| 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 |
| Q9Y463 | DB12010 | Fostamatinib | Dual specificity tyrosine-phosphorylation-regulated kinase 1B | small molecule | approved|investigational |
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RelatedDiseases for DYRK1B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DYRK1B | C0919267 | ovarian neoplasm | 1 | CTD_human |
| DYRK1B | C4014361 | ABDOMINAL OBESITY-METABOLIC SYNDROME 3 | 1 | UNIPROT |
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