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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ERC1 |
 Gene summary |
| Gene information | Gene symbol | ERC1 | Gene ID | 23085 |
| Gene name | ELKS/RAB6-interacting/CAST family member 1 | |
| Synonyms | Cast2|ELKS|ERC-1|RAB6IP2 | |
| Cytomap | 12p13.33 | |
| Type of gene | protein-coding | |
| Description | ELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2 | |
| Modification date | 20200313 | |
| UniProtAcc | G8JLD3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ERC1 | GO:0007252 | I-kappaB phosphorylation | 15218148 |
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Gene structures and expression levels for ERC1 |
| 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. |
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ENSG00000082805
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000589028.5 | ERC1-222:protein_coding:ERC1 | 3.491523e+02 | 9.331391e-01 | 3.646737e-04 | 7.056634e-03 |
| CB | UP | ENST00000561359.1 | HERC1-213:nonsense_mediated_decay:HERC1 | 9.053420e+00 | 8.380813e-01 | 6.617203e-12 | 6.971513e-10 |
| CB | UP | ENST00000558532.1 | HERC1-203:protein_coding:HERC1 | 1.430610e+01 | 1.000324e+00 | 5.136008e-09 | 1.718994e-07 |
| CB | UP | ENST00000559715.1 | HERC1-204:protein_coding:HERC1 | 1.717919e+01 | 1.016181e+00 | 7.363084e-08 | 1.638843e-06 |
| CB | UP | ENST00000355446.9 | ERC1-202:protein_coding:ERC1 | 5.768700e+00 | 8.285545e-01 | 9.052790e-03 | 3.205674e-02 |
| 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 ERC1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_145095 | chr12 | 1236769:1236904:1263034:1263165:1289852:1289881 | 1263034:1263165 |
| exon_skip_179316 | chr12 | 1110192:1110347:1112215:1112307:1115866:1116033 | 1112215:1112307 |
| exon_skip_203141 | chr12 | 1189896:1190052:1236769:1236904:1263034:1263073 | 1236769:1236904 |
| exon_skip_209942 | chr12 | 1444562:1444750:1480843:1480898:1490093:1492487 | 1480843:1480898 |
| exon_skip_218040 | chr12 | 1110192:1110347:1115866:1116033:1141620:1141740 | 1115866:1116033 |
| exon_skip_220484 | chr12 | 991273:991322:1027748:1028572:1083164:1083580 | 1027748:1028572 |
| exon_skip_220525 | chr12 | 1110192:1110347:1112215:1112298:1115866:1116033 | 1112215:1112298 |
| exon_skip_230520 | chr12 | 1141620:1141787:1180540:1180677:1181925:1182065 | 1180540:1180677 |
| exon_skip_237883 | chr12 | 1180540:1180677:1181925:1182065:1183281:1183421 | 1181925:1182065 |
| exon_skip_241640 | chr12 | 1444562:1444750:1480843:1480898:1490093:1490377 | 1480843:1480898 |
| exon_skip_254052 | chr12 | 1410389:1410453:1444562:1444750:1490093:1490377 | 1444562:1444750 |
| exon_skip_269904 | chr12 | 991267:991487:1027748:1028572:1083164:1083580 | 1027748:1028572 |
| exon_skip_274762 | chr12 | 1236769:1236904:1263034:1263165:1289852:1290012 | 1263034:1263165 |
| exon_skip_279266 | chr12 | 1408192:1408247:1410389:1410453:1444562:1444589 | 1410389:1410453 |
| exon_skip_282600 | chr12 | 1189896:1190052:1204501:1204512:1236769:1236904 | 1204501:1204512 |
| exon_skip_94115 | chr12 | 1236769:1236904:1289852:1290012:1371833:1371952 | 1289852:1290012 |
| exon_skip_99600 | chr12 | 1263034:1263165:1289852:1290012:1371833:1371952 | 1289852:1290012 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_220525 | MSBB_PG | 3.288710e-01 | 2.048077e-01 | 1.240633e-01 | 1.253328e-05 |
| exon_skip_282600 | MSBB_PG | 5.935772e-01 | 7.639130e-01 | -1.703358e-01 | 3.761202e-05 |
| exon_skip_279266 | Mayo_TC | 1.992500e-01 | 3.200000e-01 | -1.207500e-01 | 8.442541e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for ERC1 |
| 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 ERC1 |
p-ENSG00000082805_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 ERC1 |
| 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 ERC1 |
| - 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 ERC1 |
| 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_274762 | 4.168293e-01 | 2.733980e-02 | chr12 | + | 1236769 | 1236904 | 1263034 | 1263165 | 1289852 | 1290012 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERC1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ERC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPA2B1 | exon_skip_39876 | 5.104996e-01 | 6.293467e-11 |
| CB | G3BP2 | exon_skip_279266 | 5.458538e-01 | 2.052536e-13 |
| CB | RALYL | exon_skip_279266 | 5.997491e-01 | 1.638528e-16 |
| CB | SRSF9 | exon_skip_279266 | 5.154160e-01 | 6.771975e-12 |
| FL | ILF2 | exon_skip_220525 | -4.756682e-01 | 5.996282e-12 |
| FL | NUP42 | exon_skip_220525 | -4.255747e-01 | 1.264830e-09 |
| FL | SRSF1 | exon_skip_220525 | -4.391545e-01 | 3.227404e-10 |
| FL | SRSF9 | exon_skip_220525 | -5.310698e-01 | 5.326441e-15 |
| FL | EIF4B | exon_skip_220525 | -4.951586e-01 | 5.841801e-13 |
| FL | SRSF2 | exon_skip_279266 | 5.180237e-01 | 1.657835e-14 |
| FL | MBNL1 | exon_skip_279266 | 4.908916e-01 | 5.616693e-13 |
| FL | TRNAU1AP | exon_skip_279266 | 4.037519e-01 | 6.963451e-09 |
| FL | ILF2 | exon_skip_279266 | 4.612773e-01 | 1.872322e-11 |
| FL | G3BP2 | exon_skip_279266 | 6.101230e-01 | 7.324902e-21 |
| FL | FUBP1 | exon_skip_279266 | 5.351081e-01 | 1.527894e-15 |
| FL | RALYL | exon_skip_279266 | 6.061158e-01 | 1.531045e-20 |
| FL | SRSF1 | exon_skip_279266 | 4.855003e-01 | 1.090752e-12 |
| FL | SRSF9 | exon_skip_279266 | 5.781535e-01 | 1.990091e-18 |
| FL | ESRP1 | exon_skip_279266 | 4.026304e-01 | 7.731876e-09 |
| HCC | SAMD4A | exon_skip_220525 | 5.730563e-01 | 1.569150e-24 |
| HCC | RBM5 | exon_skip_220525 | 5.254592e-01 | 3.265647e-20 |
| HCC | HNRNPA2B1 | exon_skip_220525 | 4.621041e-01 | 2.006456e-15 |
| HCC | PABPC4 | exon_skip_220525 | 4.271461e-01 | 3.542261e-13 |
| HCC | SRSF1 | exon_skip_220525 | 4.104423e-01 | 3.427584e-12 |
| HCC | HNRNPF | exon_skip_220525 | 5.940259e-01 | 1.149367e-26 |
| HCC | RBM6 | exon_skip_282600 | -6.605300e-01 | 3.206050e-35 |
| HCC | SAMD4A | exon_skip_274762 | 4.989131e-01 | 2.455031e-18 |
| HCC | RBM5 | exon_skip_274762 | 4.240206e-01 | 3.652250e-13 |
| HCC | RBM4B | exon_skip_274762 | 4.414834e-01 | 2.933147e-14 |
| HCC | RBMS2 | exon_skip_279266 | -6.100089e-01 | 1.045919e-28 |
| HCC | RBMS3 | exon_skip_279266 | -4.899492e-01 | 1.375135e-17 |
| HCC | RBM6 | exon_skip_279266 | -6.343974e-01 | 1.384075e-31 |
| HCC | RBM5 | exon_skip_279266 | -6.119956e-01 | 6.227922e-29 |
| HCC | IGF2BP2 | exon_skip_279266 | -4.202382e-01 | 6.832473e-13 |
| HCC | TRNAU1AP | exon_skip_279266 | -5.030505e-01 | 1.348461e-18 |
| HCC | FUBP1 | exon_skip_279266 | -4.738909e-01 | 2.074724e-16 |
| HCC | HNRNPA2B1 | exon_skip_279266 | -5.092945e-01 | 4.302650e-19 |
| HCC | SRSF1 | exon_skip_279266 | -4.676917e-01 | 5.697234e-16 |
| HCC | HNRNPF | exon_skip_279266 | -6.673186e-01 | 6.622536e-36 |
| IFG | SRSF9 | exon_skip_179316 | -4.697816e-01 | 1.781350e-02 |
| IFG | RBM5 | exon_skip_274762 | 4.077274e-01 | 3.126299e-02 |
| IFG | SRSF1 | exon_skip_274762 | 4.145777e-01 | 2.827097e-02 |
| IFG | RBM6 | exon_skip_279266 | -4.413947e-01 | 1.870498e-02 |
| IFG | A1CF | exon_skip_279266 | -4.583423e-01 | 1.416956e-02 |
| PCC | SAMD4A | exon_skip_220525 | 4.461744e-01 | 4.997876e-11 |
| PCC | HNRNPF | exon_skip_220525 | 4.749296e-01 | 1.773705e-12 |
| PCC | SAMD4A | exon_skip_274762 | 5.066556e-01 | 1.233395e-14 |
| PCC | G3BP2 | exon_skip_274762 | -5.916198e-01 | 1.481584e-20 |
| PCC | RBMS2 | exon_skip_279266 | -5.546593e-01 | 5.144668e-18 |
| PCC | RBMS3 | exon_skip_279266 | -4.190622e-01 | 3.633221e-10 |
| PCC | RBM6 | exon_skip_279266 | -4.182566e-01 | 3.956563e-10 |
| PCC | G3BP2 | exon_skip_279266 | 4.865392e-01 | 1.220835e-13 |
| PCC | HNRNPF | exon_skip_279266 | -5.173906e-01 | 1.682239e-15 |
| PG | ILF2 | exon_skip_220525 | -6.367256e-01 | 2.137313e-21 |
| PG | NUP42 | exon_skip_220525 | -5.159774e-01 | 2.319710e-13 |
| PG | SRSF1 | exon_skip_220525 | -4.911932e-01 | 4.465804e-12 |
| PG | SRSF9 | exon_skip_220525 | -4.766607e-01 | 2.271857e-11 |
| PG | HNRNPH2 | exon_skip_220525 | -6.857445e-01 | 8.642440e-26 |
| PG | EIF4B | exon_skip_220525 | -4.945923e-01 | 3.018542e-12 |
| PG | G3BP2 | exon_skip_279266 | 4.012887e-01 | 1.648602e-08 |
| PG | RALYL | exon_skip_279266 | 4.311380e-01 | 9.989638e-10 |
| PG | SRSF9 | exon_skip_279266 | 4.400473e-01 | 4.097631e-10 |
| STG | NUP42 | exon_skip_220525 | -4.658205e-01 | 7.997635e-06 |
| STG | HNRNPH2 | exon_skip_220525 | -4.540003e-01 | 1.440856e-05 |
| STG | SRSF2 | exon_skip_279266 | 4.022308e-01 | 2.168362e-04 |
| STG | G3BP2 | exon_skip_279266 | 4.612044e-01 | 1.665930e-05 |
| STG | FUBP1 | exon_skip_279266 | 4.203928e-01 | 1.034100e-04 |
| STG | RALYL | exon_skip_279266 | 5.337232e-01 | 3.433266e-07 |
| TC | ILF2 | exon_skip_220525 | -4.130788e-01 | 1.996312e-07 |
| TC | NUP42 | exon_skip_220525 | -4.467063e-01 | 1.416477e-08 |
| TC | HNRNPH2 | exon_skip_220525 | -5.554287e-01 | 2.846927e-13 |
| TC | ESRP1 | exon_skip_220525 | -4.412281e-01 | 2.223312e-08 |
| TC | CNOT4 | exon_skip_274762 | -4.303248e-01 | 3.142261e-08 |
| TC | MBNL1 | exon_skip_274762 | -4.498174e-01 | 6.109771e-09 |
| TC | ILF2 | exon_skip_274762 | -5.431280e-01 | 4.857642e-13 |
| TC | G3BP2 | exon_skip_274762 | -7.469743e-01 | 2.220576e-28 |
| TC | ENOX1 | exon_skip_274762 | -4.666326e-01 | 1.366330e-09 |
| TC | NUP42 | exon_skip_274762 | -6.464458e-01 | 2.365934e-19 |
| TC | EWSR1 | exon_skip_274762 | -4.295763e-01 | 3.339420e-08 |
| TC | SRSF9 | exon_skip_274762 | -4.332512e-01 | 2.473443e-08 |
| TC | ESRP1 | exon_skip_274762 | -5.785651e-01 | 5.885563e-15 |
| TC | RBMS2 | exon_skip_279266 | -4.790117e-01 | 1.431910e-09 |
| TC | SRSF2 | exon_skip_279266 | 5.161613e-01 | 4.165991e-11 |
| TC | ILF2 | exon_skip_279266 | 4.970324e-01 | 2.714764e-10 |
| TC | G3BP2 | exon_skip_279266 | 7.024646e-01 | 1.420192e-22 |
| TC | RALYL | exon_skip_279266 | 7.905829e-01 | 7.839251e-32 |
| TC | ESRP1 | exon_skip_279266 | 5.397268e-01 | 3.504862e-12 |
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RelatedDrugs for ERC1 |
| 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 ERC1 |
| 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)
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