|
||||||
|
 | |
| |
| |
| 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 DCTN1 |
 Gene summary |
| Gene information | Gene symbol | DCTN1 | Gene ID | 1639 |
| Gene name | dynactin subunit 1 | |
| Synonyms | DAP-150|DP-150|P135 | |
| Cytomap | 2p13.1 | |
| Type of gene | protein-coding | |
| Description | dynactin subunit 1150 kDa dynein-associated polypeptidedynactin 1 (p150, glued homolog, Drosophila) | |
| Modification date | 20200319 | |
| 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 |
| DCTN1 | GO:0031116 | positive regulation of microtubule polymerization | 23874158 |
| DCTN1 | GO:0090063 | positive regulation of microtubule nucleation | 23874158 |
Top |
Gene structures and expression levels for DCTN1 |
| 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. |
 |
ENSG00000204843
| 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 |
| PCC | UP | ENST00000497666.1 | DCTN1-225:lncRNA:DCTN1 | 2.562311e+01 | 1.673580e+00 | 6.844373e-05 | 4.711791e-03 |
| PCC | DOWN | ENST00000495643.1 | DCTN1-223:lncRNA:DCTN1 | 1.780536e+00 | -9.406338e-01 | 2.440111e-03 | 4.404173e-02 |
| PG | DOWN | ENST00000361874.7 | DCTN1-201:protein_coding:DCTN1 | 8.981639e+02 | -9.324411e-01 | 1.492137e-03 | 1.938678e-02 |
| CB | DOWN | ENST00000497666.1 | DCTN1-225:lncRNA:DCTN1 | 2.995447e+02 | -2.261018e+00 | 9.287492e-16 | 5.412691e-13 |
| CB | DOWN | ENST00000491465.5 | DCTN1-221:retained_intron:DCTN1 | 4.009011e+02 | -9.318363e-01 | 7.072520e-12 | 7.356222e-10 |
| CB | UP | ENST00000417090.1 | DCTN1-208:protein_coding:DCTN1 | 3.835818e+00 | 8.338620e-01 | 1.319063e-05 | 1.331612e-04 |
| CB | DOWN | ENST00000437991.1 | DCTN1-AS1-206:lncRNA:DCTN1 | 1.237003e+01 | -1.294902e+00 | 1.998624e-03 | 9.213281e-03 |
| TC | DOWN | ENST00000497666.1 | DCTN1-225:lncRNA:DCTN1 | 6.260177e+02 | -8.699137e-01 | 1.889897e-05 | 4.284222e-04 |
| TC | DOWN | ENST00000418990.1 | DCTN1-AS1-203:lncRNA:DCTN1 | 6.770606e+00 | -1.117861e+00 | 6.773936e-05 | 1.187722e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DCTN1 |
| 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_10772 | chr2 | 74374323:74374340:74376742:74376762:74377432:74377464 | 74376742:74376762 |
| exon_skip_112683 | chr2 | 74363294:74363427:74363614:74363628:74365075:74365241 | 74363614:74363628 |
| exon_skip_141002 | chr2 | 74372928:74372948:74374323:74374340:74376742:74376762 | 74374323:74374340 |
| exon_skip_17202 | chr2 | 74363294:74363427:74363614:74363628:74365075:74365103 | 74363614:74363628 |
| exon_skip_215894 | chr2 | 74374323:74374340:74376742:74376762:74377432:74377466 | 74376742:74376762 |
| exon_skip_227958 | chr2 | 74371006:74371176:74371537:74371728:74377432:74377466 | 74371537:74371728 |
| exon_skip_232594 | chr2 | 74363294:74363427:74363614:74363628:74365075:74365202 | 74363614:74363628 |
| exon_skip_239419 | chr2 | 74366244:74366375:74366459:74366620:74366783:74366932 | 74366459:74366620 |
| exon_skip_243459 | chr2 | 74372928:74372948:74374323:74374340:74377432:74377464 | 74374323:74374340 |
| exon_skip_251223 | chr2 | 74378187:74378245:74378905:74378972:74380005:74380283 | 74378905:74378972 |
| exon_skip_265921 | chr2 | 74366244:74366375:74366459:74366620:74366783:74366810 | 74366459:74366620 |
| exon_skip_286044 | chr2 | 74378225:74378245:74378905:74378972:74380005:74380283 | 74378905:74378972 |
| exon_skip_36421 | chr2 | 74378187:74378245:74378905:74378972:74380005:74380100 | 74378905:74378972 |
| exon_skip_40477 | chr2 | 74378187:74378245:74390583:74390728:74391794:74391843 | 74390583:74390728 |
| exon_skip_5929 | chr2 | 74378036:74378245:74378905:74378972:74380005:74380283 | 74378905:74378972 |
| exon_skip_65086 | chr2 | 74372928:74372948:74374323:74374340:74377432:74377466 | 74374323:74374340 |
| exon_skip_65351 | chr2 | 74366244:74366375:74366459:74366620:74366783:74366808 | 74366459:74366620 |
| exon_skip_80133 | chr2 | 74377432:74377466:74377648:74377726:74378000:74378245 | 74377648:74377726 |
| exon_skip_8699 | chr2 | 74374323:74374340:74377432:74377466:74377648:74377726 | 74377432:74377466 |
| 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_112683 | MSBB_PG | 5.993525e-01 | 7.663158e-01 | -1.669633e-01 | 2.289280e-05 |
| exon_skip_265105 | MSBB_IFG | 4.647059e-01 | 5.950000e-01 | -1.302941e-01 | 3.228745e-02 |
| exon_skip_112683 | Mayo_CB | 5.306098e-01 | 6.407792e-01 | -1.101695e-01 | 6.932377e-06 |
| exon_skip_38433 | Mayo_TC | 4.247561e-01 | 5.674026e-01 | -1.426465e-01 | 8.702154e-07 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for DCTN1 |
| 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 |
| ENST00000361874 | 74377648 | 74377726 | Frame-shift |
| ENST00000361874 | 74363614 | 74363628 | In-frame |
| ENST00000361874 | 74366459 | 74366620 | In-frame |
| ENST00000361874 | 74374323 | 74374340 | In-frame |
| ENST00000361874 | 74376742 | 74376762 | 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 |
| ENST00000361874 | 74377648 | 74377726 | Frame-shift |
| ENST00000361874 | 74363614 | 74363628 | In-frame |
| ENST00000361874 | 74366459 | 74366620 | In-frame |
| ENST00000361874 | 74374323 | 74374340 | In-frame |
| ENST00000361874 | 74376742 | 74376762 | 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 |
| ENST00000361874 | 74377648 | 74377726 | Frame-shift |
| ENST00000361874 | 74363614 | 74363628 | In-frame |
| ENST00000361874 | 74366459 | 74366620 | In-frame |
| ENST00000361874 | 74374323 | 74374340 | In-frame |
| ENST00000361874 | 74376742 | 74376762 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for DCTN1 |
p-ENSG00000204843_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 |
| ENST00000361874 | 4517 | 1278 | 74366459 | 74366620 | 2785 | 2945 | 822 | 875 |
| 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 |
| ENST00000361874 | 4517 | 1278 | 74366459 | 74366620 | 2785 | 2945 | 822 | 875 |
| 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 |
| ENST00000361874 | 4517 | 1278 | 74366459 | 74366620 | 2785 | 2945 | 822 | 875 |
| 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 |
| Q14203 | 822 | 875 | 1 | 1278 | Chain | ID=PRO_0000083518;Note=Dynactin subunit 1 |
| 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 |
| Q14203 | 822 | 875 | 1 | 1278 | Chain | ID=PRO_0000083518;Note=Dynactin subunit 1 |
| 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 |
| Q14203 | 822 | 875 | 1 | 1278 | Chain | ID=PRO_0000083518;Note=Dynactin subunit 1 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in DCTN1 |
| 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 |
Top |
SNVs in the skipped exons for DCTN1 |
| - 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 |
Top |
AD stage-associated exon skippint events for DCTN1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_141002 | -4.255982e-01 | 2.394759e-02 | chr2 | - | 74372928 | 74372948 | 74374323 | 74374340 | 74376742 | 74376762 |
| ADstage | MSBB | IFG | exon_skip_215894 | -4.016164e-01 | 3.414309e-02 | chr2 | - | 74374323 | 74374340 | 74376742 | 74376762 | 74377432 | 74377466 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DCTN1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for DCTN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF2 | exon_skip_112683 | 4.007345e-01 | 1.656587e-07 |
| CB | TRA2A | exon_skip_112683 | -4.497205e-01 | 2.733890e-09 |
| DLPFC | SRSF2 | exon_skip_232594 | 7.288477e-01 | 1.078339e-41 |
| DLPFC | SRSF11 | exon_skip_232594 | -4.856524e-01 | 7.615813e-16 |
| DLPFC | CNOT4 | exon_skip_232594 | 6.630076e-01 | 2.857947e-32 |
| DLPFC | TRA2A | exon_skip_232594 | 4.530808e-01 | 9.387154e-14 |
| DLPFC | EIF4G2 | exon_skip_232594 | 6.748853e-01 | 8.647244e-34 |
| DLPFC | SRSF1 | exon_skip_232594 | 6.634723e-01 | 2.499959e-32 |
| DLPFC | SRSF9 | exon_skip_232594 | 7.191398e-01 | 3.900302e-40 |
| DLPFC | ZC3H10 | exon_skip_232594 | 5.241787e-01 | 1.269333e-18 |
| FL | SRSF2 | exon_skip_112683 | 5.515476e-01 | 3.732330e-17 |
| FL | EIF4G2 | exon_skip_112683 | 4.204476e-01 | 6.960248e-10 |
| FL | SRSF1 | exon_skip_112683 | 4.413418e-01 | 7.609049e-11 |
| FL | SRSF9 | exon_skip_112683 | 4.938881e-01 | 1.426941e-13 |
| HCC | PABPN1 | exon_skip_112683 | -5.629767e-01 | 3.163247e-24 |
| HCC | SRSF11 | exon_skip_112683 | -5.626870e-01 | 3.376347e-24 |
| HCC | CNOT4 | exon_skip_112683 | -4.158945e-01 | 7.638787e-13 |
| HCC | TRA2A | exon_skip_112683 | -4.150076e-01 | 8.636349e-13 |
| HCC | EIF4G2 | exon_skip_112683 | -6.020335e-01 | 2.599429e-28 |
| HCC | SRSF1 | exon_skip_112683 | -4.318819e-01 | 7.849947e-14 |
| HCC | ZC3H10 | exon_skip_112683 | -6.477273e-01 | 7.270426e-34 |
| HCC | RBM5 | exon_skip_178087 | -5.237671e-01 | 1.708600e-20 |
| HCC | RBM4B | exon_skip_178087 | -4.669096e-01 | 4.444496e-16 |
| IFG | RBM5 | exon_skip_65086 | 4.620253e-01 | 4.027581e-02 |
| PG | SRSF2 | exon_skip_112683 | 4.913338e-01 | 2.631167e-13 |
| PG | SRSF11 | exon_skip_112683 | 4.561778e-01 | 1.825587e-11 |
| PG | EIF4G2 | exon_skip_112683 | 4.655334e-01 | 6.190665e-12 |
| PG | SRSF1 | exon_skip_112683 | 4.343462e-01 | 2.011124e-10 |
| PG | SRSF9 | exon_skip_112683 | 4.454062e-01 | 6.092310e-11 |
| TC | SRSF2 | exon_skip_17202 | 4.795433e-01 | 1.402509e-10 |
| TC | CNOT4 | exon_skip_17202 | 4.199366e-01 | 3.240981e-08 |
| TC | EIF4G2 | exon_skip_17202 | 4.233176e-01 | 2.445917e-08 |
| TC | SRSF9 | exon_skip_17202 | 4.309197e-01 | 1.284268e-08 |
| TC | SRSF2 | exon_skip_103683 | 4.653413e-01 | 5.649994e-10 |
| TC | RBFOX2 | exon_skip_103683 | 9.162013e-01 | 1.224655e-64 |
| TC | ELAVL4 | exon_skip_103683 | 8.757435e-01 | 7.773672e-52 |
| TC | RBM25 | exon_skip_103683 | 4.459973e-01 | 3.411440e-09 |
| TC | ELAVL1 | exon_skip_103683 | 4.352139e-01 | 8.862121e-09 |
| TC | MBNL1 | exon_skip_103683 | 5.318595e-01 | 4.586838e-13 |
| TC | ILF2 | exon_skip_103683 | 5.231580e-01 | 1.272909e-12 |
| TC | HNRNPK | exon_skip_103683 | 4.372362e-01 | 7.428147e-09 |
| TC | RBM24 | exon_skip_103683 | 8.170999e-01 | 1.242018e-39 |
| TC | PUM1 | exon_skip_103683 | 7.513938e-01 | 2.493146e-30 |
| TC | RALYL | exon_skip_103683 | 8.813152e-01 | 2.604346e-53 |
| TC | PTBP3 | exon_skip_103683 | 6.316945e-01 | 3.359970e-19 |
| TC | CELF1 | exon_skip_103683 | 6.971511e-01 | 1.319930e-24 |
| TC | EWSR1 | exon_skip_103683 | 4.127855e-01 | 5.818624e-08 |
| TC | SRSF9 | exon_skip_103683 | 4.595575e-01 | 9.787191e-10 |
| TC | SRSF5 | exon_skip_103683 | 4.015306e-01 | 1.422288e-07 |
| TC | HNRNPH2 | exon_skip_103683 | 7.405123e-01 | 4.559299e-29 |
| TC | ESRP1 | exon_skip_103683 | 6.304093e-01 | 4.165595e-19 |
Top |
RelatedDrugs for DCTN1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for DCTN1 |
| 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)
|