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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for DOK2 |
Gene summary |
Gene information | Gene symbol | DOK2 | Gene ID | 9046 |
Gene name | docking protein 2 | |
Synonyms | p56DOK|p56dok-2 | |
Cytomap | 8p21.3 | |
Type of gene | protein-coding | |
Description | docking protein 2docking protein 2, 56kDdocking protein 2, 56kDadownstream of tyrosine kinase 2p56(dok-2) | |
Modification date | 20180519 | |
UniProtAcc | O60496 | |
Context | PubMed: DOK2 [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 DOK2 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 DOK2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DOK2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_488681 | 8 | 21767344:21767442:21768183:21768368:21769411:21769493 | 21768183:21768368 | ENSG00000147443.8 | ENST00000276420.4 |
exon_skip_488684 | 8 | 21768183:21768368:21769411:21769499:21769739:21770021 | 21769411:21769499 | ENSG00000147443.8 | ENST00000523932.1,ENST00000276420.4 |
exon_skip_488687 | 8 | 21768183:21768368:21769739:21770021:21771049:21771174 | 21769739:21770021 | ENSG00000147443.8 | ENST00000544659.1,ENST00000517422.1 |
exon_skip_488689 | 8 | 21769411:21769499:21769739:21770021:21771049:21771174 | 21769739:21770021 | ENSG00000147443.8 | ENST00000523932.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DOK2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_488681 | 8 | 21767344:21767442:21768183:21768368:21769411:21769493 | 21768183:21768368 | ENSG00000147443.8 | ENST00000276420.4 |
exon_skip_488684 | 8 | 21768183:21768368:21769411:21769499:21769739:21770021 | 21769411:21769499 | ENSG00000147443.8 | ENST00000276420.4,ENST00000523932.1 |
exon_skip_488687 | 8 | 21768183:21768368:21769739:21770021:21771049:21771174 | 21769739:21770021 | ENSG00000147443.8 | ENST00000544659.1,ENST00000517422.1 |
exon_skip_488689 | 8 | 21769411:21769499:21769739:21770021:21771049:21771174 | 21769739:21770021 | ENSG00000147443.8 | ENST00000523932.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DOK2 |
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 |
ENST00000276420 | 21768183 | 21768368 | Frame-shift |
ENST00000276420 | 21769411 | 21769499 | Frame-shift |
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 |
ENST00000276420 | 21768183 | 21768368 | Frame-shift |
ENST00000276420 | 21769411 | 21769499 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DOK2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 DOK2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
LUAD | TCGA-55-A490-01 | exon_skip_488681 | 21768184 | 21768368 | 21768189 | 21768189 | Frame_Shift_Del | C | - | p.D205fs |
LGG | TCGA-P5-A5ET-01 | exon_skip_488684 | 21769412 | 21769499 | 21769438 | 21769438 | Frame_Shift_Del | T | - | p.N136fs |
THYM | TCGA-XM-A8RF-01 | exon_skip_488689 exon_skip_488687 | 21769740 | 21770021 | 21769850 | 21769850 | Frame_Shift_Del | G | - | p.R79fs |
LUAD | TCGA-49-6742-01 | exon_skip_488681 | 21768184 | 21768368 | 21768239 | 21768240 | Nonsense_Mutation | CC | TA | p.G188* |
- 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 |
HEC59_ENDOMETRIUM | 21768184 | 21768368 | 21768298 | 21768298 | Frame_Shift_Del | C | - | p.G168fs |
SNU1040_LARGE_INTESTINE | 21768184 | 21768368 | 21768219 | 21768219 | Missense_Mutation | G | A | p.P195S |
CW2_LARGE_INTESTINE | 21768184 | 21768368 | 21768228 | 21768228 | Missense_Mutation | A | G | p.Y192H |
NCIH209_LUNG | 21768184 | 21768368 | 21768269 | 21768269 | Missense_Mutation | G | A | p.A178V |
SISO_CERVIX | 21768184 | 21768368 | 21768284 | 21768284 | Missense_Mutation | C | T | p.R173Q |
IM95_STOMACH | 21768184 | 21768368 | 21768284 | 21768284 | Missense_Mutation | C | T | p.R173Q |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21768184 | 21768368 | 21768284 | 21768284 | Missense_Mutation | C | T | p.R173Q |
HEC251_ENDOMETRIUM | 21768184 | 21768368 | 21768291 | 21768291 | Missense_Mutation | T | C | p.T171A |
MEWO_SKIN | 21769740 | 21770021 | 21769784 | 21769784 | Missense_Mutation | C | T | p.E101K |
RL952_ENDOMETRIUM | 21769740 | 21770021 | 21769982 | 21769982 | Missense_Mutation | C | T | p.D35N |
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21769740 | 21770021 | 21769985 | 21769985 | Missense_Mutation | A | G | p.S34P |
SNU175_LARGE_INTESTINE | 21769740 | 21770021 | 21770003 | 21770003 | Missense_Mutation | C | T | p.A28T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOK2 |
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 DOK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOK2 |
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RelatedDrugs for DOK2 |
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 DOK2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
DOK2 | C0024121 | Lung Neoplasms | 1 | CTD_human |