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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 DOCK9 |
Gene summary |
Gene information | Gene symbol | DOCK9 | Gene ID | 23348 |
Gene name | dedicator of cytokinesis 9 | |
Synonyms | ZIZ1|ZIZIMIN1 | |
Cytomap | 13q32.3 | |
Type of gene | protein-coding | |
Description | dedicator of cytokinesis protein 9cdc42 guanine nucleotide exchange factor zizimin-1 | |
Modification date | 20200313 | |
UniProtAcc | A0A088AWN3, A0A0A0MSY4, A0A0A0MT38, A0A0D9SF41, A0A0D9SFH5, A0A1B0GVL8, | |
Context |
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 DOCK9 |
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 |
PG | UP | ENST00000449796.5 | DOCK9-209:protein_coding:DOCK9 | 2.823181e+01 | 1.753057e+00 | 3.616497e-07 | 4.093470e-05 |
PG | UP | ENST00000400228.6 | DOCK9-204:protein_coding:DOCK9 | 1.662916e+02 | 8.748915e-01 | 4.398894e-06 | 2.728912e-04 |
PG | UP | ENST00000472874.1 | DOCK9-212:lncRNA:DOCK9 | 1.154459e+01 | 1.491421e+00 | 1.572901e-03 | 2.015140e-02 |
CB | UP | ENST00000630992.2 | DOCK9-217:nonsense_mediated_decay:DOCK9 | 2.792971e+02 | 1.111373e+00 | 1.083244e-16 | 9.760098e-14 |
CB | UP | ENST00000427887.2 | DOCK9-206:protein_coding:DOCK9 | 4.295447e+01 | 1.344853e+00 | 1.319639e-10 | 7.972333e-09 |
CB | UP | ENST00000448493.7 | DOCK9-208:protein_coding:DOCK9 | 3.043980e+02 | 8.872834e-01 | 7.629386e-09 | 2.395216e-07 |
TC | UP | ENST00000451563.5 | DOCK9-211:protein_coding:DOCK9 | 2.490697e+01 | 1.296962e+00 | 1.873174e-08 | 1.515684e-06 |
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 DOCK9 |
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_10922 | chr13 | 98855898:98856031:98860405:98860522:98863019:98863123 | 98860405:98860522 |
exon_skip_143540 | chr13 | 98837494:98837609:98845924:98846060:98848592:98848639 | 98845924:98846060 |
exon_skip_152790 | chr13 | 98824398:98824504:98825872:98825975:98826830:98826887 | 98825872:98825975 |
exon_skip_155518 | chr13 | 98837494:98837609:98845924:98845991:98846520:98846556 | 98845924:98845991 |
exon_skip_184456 | chr13 | 98793492:98794748:98796206:98796213:98797115:98797253 | 98796206:98796213 |
exon_skip_184968 | chr13 | 98837494:98837609:98845924:98846060:98846520:98846556 | 98845924:98846060 |
exon_skip_191239 | chr13 | 98845924:98845991:98846520:98846556:98848592:98848639 | 98846520:98846556 |
exon_skip_19449 | chr13 | 98807661:98807807:98808640:98808675:98809352:98809465 | 98808640:98808675 |
exon_skip_197915 | chr13 | 98797115:98797253:98797389:98797489:98800288:98800478 | 98797389:98797489 |
exon_skip_199601 | chr13 | 98837494:98837609:98845329:98845372:98848592:98848639 | 98845329:98845372 |
exon_skip_207452 | chr13 | 98831396:98831530:98831649:98831786:98837494:98837609 | 98831649:98831786 |
exon_skip_212055 | chr13 | 98808640:98808675:98809123:98809128:98809352:98809465 | 98809123:98809128 |
exon_skip_213580 | chr13 | 98824398:98824504:98825872:98825975:98826830:98826883 | 98825872:98825975 |
exon_skip_21874 | chr13 | 98955435:98955551:98959403:98959534:99086223:99086393 | 98959403:98959534 |
exon_skip_221445 | chr13 | 98800405:98800478:98804999:98805209:98807661:98807807 | 98804999:98805209 |
exon_skip_229189 | chr13 | 98855898:98856031:98860405:98860522:98863019:98863132 | 98860405:98860522 |
exon_skip_23396 | chr13 | 98824398:98824504:98825872:98825940:98826830:98826883 | 98825872:98825940 |
exon_skip_237316 | chr13 | 98848592:98848639:98850047:98850113:98853408:98853522 | 98850047:98850113 |
exon_skip_240985 | chr13 | 98845948:98846060:98846520:98846556:98848592:98848639 | 98846520:98846556 |
exon_skip_246885 | chr13 | 98824398:98824504:98825872:98825940:98826830:98826887 | 98825872:98825940 |
exon_skip_254160 | chr13 | 98826830:98826887:98829307:98829522:98829643:98829756 | 98829307:98829522 |
exon_skip_270205 | chr13 | 98923302:98923371:98925837:98925919:98930168:98930257 | 98925837:98925919 |
exon_skip_281399 | chr13 | 98904632:98904706:98914328:98914395:98915329:98915503 | 98914328:98914395 |
exon_skip_28703 | chr13 | 98837494:98837609:98845924:98845991:98848592:98848639 | 98845924:98845991 |
exon_skip_44569 | chr13 | 98853408:98853522:98854534:98854740:98855898:98856031 | 98854534:98854740 |
exon_skip_4741 | chr13 | 98868231:98868377:98879898:98879969:98880547:98880672 | 98879898:98879969 |
exon_skip_48329 | chr13 | 98794677:98794748:98796206:98796213:98797115:98797253 | 98796206:98796213 |
exon_skip_5647 | chr13 | 98800402:98800478:98804999:98805209:98807661:98807807 | 98804999:98805209 |
exon_skip_71933 | chr13 | 98800288:98800478:98804999:98805209:98807661:98807807 | 98804999:98805209 |
exon_skip_81512 | chr13 | 98888632:98888711:98897488:98897610:98898179:98898261 | 98897488:98897610 |
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 |
exon_skip_173488 | ROSMAP_DLPFC | 3.790233e-01 | 4.909402e-01 | -1.119169e-01 | 3.817223e-04 |
exon_skip_184456 | MSBB_PG | 2.800000e-01 | 4.696154e-01 | -1.896154e-01 | 3.217193e-06 |
exon_skip_173488 | MSBB_PG | 5.239683e-01 | 7.441509e-01 | -2.201827e-01 | 1.133309e-03 |
exon_skip_19449 | Mayo_TC | 4.067073e-01 | 5.405128e-01 | -1.338055e-01 | 2.264918e-06 |
exon_skip_173488 | Mayo_TC | 3.341463e-01 | 4.390909e-01 | -1.049446e-01 | 1.093517e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for DOCK9 |
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 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for DOCK9 |
p-ENSG00000088387_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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DOCK9 |
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 DOCK9 |
- 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 DOCK9 |
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 |
CDR | MSBB | IFG | exon_skip_48207 | -4.213610e-01 | 2.554113e-02 | chr13 | - | 98863370 | 98863548 | 98867064 | 98867105 | 98867425 | 98867536 |
CDR | MSBB | IFG | exon_skip_246885 | -3.835731e-01 | 4.390889e-02 | chr13 | - | 98824398 | 98824504 | 98825872 | 98825940 | 98826830 | 98826887 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK9 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_246885 | rs7333352 | chr13:98857833 | 1.876557e-04 | 2.841831e-02 |
HCC | exon_skip_184456 | rs9517445 | chr13:98782628 | 1.817605e-04 | 1.499570e-02 |
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Correlation with RNA binding proteins (RBPs) for DOCK9 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | SRSF2 | exon_skip_48329 | 4.788543e-01 | 1.717066e-10 |
CB | EWSR1 | exon_skip_212055 | 4.289506e-01 | 2.080648e-08 |
CB | RBM6 | exon_skip_246885 | -5.377445e-01 | 3.809170e-13 |
CB | TRA2A | exon_skip_246885 | -5.041780e-01 | 1.675552e-11 |
CB | HNRNPA2B1 | exon_skip_246885 | -4.024388e-01 | 1.742644e-07 |
CB | NUP42 | exon_skip_246885 | 5.337610e-01 | 6.101379e-13 |
CB | RBM4B | exon_skip_246885 | -4.420623e-01 | 6.784379e-09 |
FL | SRSF2 | exon_skip_184456 | 4.731359e-01 | 4.786934e-12 |
FL | SRSF2 | exon_skip_19449 | 4.270132e-01 | 3.338371e-08 |
HCC | SRSF11 | exon_skip_184456 | -5.538434e-01 | 2.395300e-23 |
HCC | ZC3H10 | exon_skip_212055 | -4.832255e-01 | 7.474224e-17 |
IFG | TRA2A | exon_skip_246885 | -4.093715e-01 | 3.052260e-02 |
PCC | SRSF11 | exon_skip_184456 | -4.175998e-01 | 1.753663e-10 |
PCC | HNRNPF | exon_skip_173488 | -6.657364e-01 | 9.039775e-29 |
PCC | ZC3H10 | exon_skip_173488 | -4.117201e-01 | 3.660002e-10 |
PCC | ZC3H10 | exon_skip_212055 | -4.230974e-01 | 4.791021e-10 |
PG | SRSF2 | exon_skip_184456 | 4.602046e-01 | 2.385801e-11 |
PG | SRSF11 | exon_skip_184456 | 4.073325e-01 | 5.458198e-09 |
PG | ILF2 | exon_skip_19449 | 4.247571e-01 | 2.660853e-08 |
PG | SRSF1 | exon_skip_19449 | 4.101104e-01 | 8.729032e-08 |
PG | SRSF2 | exon_skip_173488 | 4.699336e-01 | 3.207756e-11 |
PG | MBNL1 | exon_skip_173488 | 4.358303e-01 | 1.075510e-09 |
PG | ILF2 | exon_skip_173488 | 5.895369e-01 | 3.886814e-18 |
PG | ENOX1 | exon_skip_173488 | 4.501050e-01 | 2.591530e-10 |
PG | SRSF1 | exon_skip_173488 | 4.449131e-01 | 4.381979e-10 |
STG | ILF2 | exon_skip_246885 | 4.423666e-01 | 1.422106e-05 |
STG | HNRNPK | exon_skip_246885 | 4.486274e-01 | 1.037339e-05 |
STG | SRSF5 | exon_skip_246885 | 4.082346e-01 | 7.147869e-05 |
STG | HNRNPH2 | exon_skip_246885 | 4.638005e-01 | 4.703956e-06 |
TC | SRSF2 | exon_skip_184456 | 4.493192e-01 | 2.525101e-09 |
TC | SRSF2 | exon_skip_19449 | 4.004515e-01 | 1.546887e-07 |
TC | SRSF2 | exon_skip_173488 | 5.344818e-01 | 3.979315e-13 |
TC | CNOT4 | exon_skip_173488 | 4.208046e-01 | 3.334646e-08 |
TC | MBNL1 | exon_skip_173488 | 4.487395e-01 | 2.987601e-09 |
TC | ILF2 | exon_skip_173488 | 5.541696e-01 | 3.516729e-14 |
TC | ENOX1 | exon_skip_173488 | 4.814812e-01 | 1.320547e-10 |
TC | EWSR1 | exon_skip_173488 | 4.241824e-01 | 2.519668e-08 |
TC | MBNL1 | exon_skip_212055 | 4.581057e-01 | 1.428224e-09 |
TC | RBM6 | exon_skip_23396 | -4.743201e-01 | 2.358798e-10 |
TC | HNRNPH2 | exon_skip_23396 | 4.351104e-01 | 8.942235e-09 |
TC | RBM4B | exon_skip_23396 | -4.210044e-01 | 2.966323e-08 |
TC | RALYL | exon_skip_101988 | -4.293920e-01 | 1.805391e-08 |
TC | RBFOX2 | exon_skip_28703 | 5.302730e-01 | 3.150844e-11 |
TC | RBFOX2 | exon_skip_248800 | -5.967728e-01 | 2.752180e-14 |
TC | ELAVL4 | exon_skip_248800 | -5.610020e-01 | 1.787413e-12 |
TC | KHDRBS2 | exon_skip_248800 | -5.826991e-01 | 1.510911e-13 |
TC | KHDRBS3 | exon_skip_248800 | -4.405803e-01 | 9.963508e-08 |
TC | RBM24 | exon_skip_248800 | -4.960133e-01 | 1.099790e-09 |
TC | HNRNPA0 | exon_skip_248800 | -4.886831e-01 | 2.091776e-09 |
TC | PUM1 | exon_skip_248800 | -4.152699e-01 | 6.061434e-07 |
TC | NUP42 | exon_skip_248800 | -4.288903e-01 | 2.336358e-07 |
TC | RALYL | exon_skip_248800 | -5.607687e-01 | 1.833771e-12 |
TC | HNRNPH2 | exon_skip_248800 | -4.714346e-01 | 8.956458e-09 |
TC | NOVA1 | exon_skip_248800 | -4.150519e-01 | 6.152555e-07 |
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RelatedDrugs for DOCK9 |
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 DOCK9 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |