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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 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 | 20180522 | |
| UniProtAcc | Q8IUD2 | |
| Context | PubMed: ERC1 [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 |
| ERC1 | GO:0007252 | I-kappaB phosphorylation | 15218148 |
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Exon skipping events across known transcript of Ensembl for ERC1 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 ERC1 |
| 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 ERC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_78927 | 12 | 1100463:1100488:1136913:1137738:1192329:1192746 | 1136913:1137738 | ENSG00000082805.15 | ENST00000360905.4,ENST00000543086.3 |
| exon_skip_78931 | 12 | 1100432:1100653:1136913:1137738:1192329:1192746 | 1136913:1137738 | ENSG00000082805.15 | ENST00000440394.3,ENST00000397203.2,ENST00000347735.6 |
| exon_skip_78932 | 12 | 1100428:1100653:1137504:1137738:1192329:1192746 | 1137504:1137738 | ENSG00000082805.15 | ENST00000592048.1 |
| exon_skip_78937 | 12 | 1192738:1192746:1213915:1213990:1219357:1219513 | 1213915:1213990 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000539007.1,ENST00000536573.2,ENST00000546231.2,ENST00000538971.2,ENST00000360905.4,ENST00000592048.1,ENST00000543086.3,ENST00000542302.2,ENST00000440394.3,ENST00000397203.2,ENST00000347735.6 |
| exon_skip_78939 | 12 | 1213915:1213990:1219357:1219513:1225031:1225199 | 1219357:1219513 | ENSG00000082805.15 | ENST00000538971.2,ENST00000592048.1,ENST00000543086.3,ENST00000440394.3,ENST00000347735.6 |
| exon_skip_78940 | 12 | 1219357:1219513:1221380:1221464:1225031:1225199 | 1221380:1221464 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000539007.1,ENST00000546231.2,ENST00000360905.4,ENST00000542302.2,ENST00000397203.2 |
| exon_skip_78941 | 12 | 1219357:1219513:1221380:1221473:1225031:1225199 | 1221380:1221473 | ENSG00000082805.15 | ENST00000536573.2 |
| exon_skip_78942 | 12 | 1219357:1219513:1225031:1225199:1250785:1250906 | 1225031:1225199 | ENSG00000082805.15 | ENST00000538971.2,ENST00000543086.3,ENST00000440394.3,ENST00000347735.6 |
| exon_skip_78944 | 12 | 1250785:1250953:1289705:1289843:1291090:1291231 | 1289705:1289843 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000536573.2,ENST00000546231.2,ENST00000538971.2,ENST00000360905.4,ENST00000543086.3,ENST00000545948.1,ENST00000542302.2,ENST00000440394.3,ENST00000397203.2,ENST00000347735.6 |
| exon_skip_78945 | 12 | 1289705:1289843:1291090:1291231:1292446:1292587 | 1291090:1291231 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000536573.2,ENST00000546231.2,ENST00000538971.2,ENST00000360905.4,ENST00000543086.3,ENST00000545948.1,ENST00000542302.2,ENST00000440394.3,ENST00000397203.2,ENST00000347735.6 |
| exon_skip_78946 | 12 | 1299061:1299218:1313666:1313678:1345934:1346070 | 1313666:1313678 | ENSG00000082805.15 | ENST00000546231.2,ENST00000538971.2,ENST00000545948.1,ENST00000542302.2,ENST00000440394.3,ENST00000347735.6 |
| exon_skip_78947 | 12 | 1345934:1346070:1372199:1372331:1399017:1399178 | 1372199:1372331 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000546231.2,ENST00000588412.1,ENST00000360905.4,ENST00000543086.3,ENST00000545948.1,ENST00000440394.3,ENST00000397203.2 |
| exon_skip_78950 | 12 | 1372199:1372331:1399017:1399178:1480998:1481118 | 1399017:1399178 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000546231.2,ENST00000588412.1,ENST00000360905.4,ENST00000543263.2,ENST00000543086.3,ENST00000545948.1,ENST00000440394.3,ENST00000397203.2 |
| exon_skip_78953 | 12 | 1399017:1399178:1480998:1481143:1517314:1517413 | 1480998:1481143 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000546231.2,ENST00000588412.1,ENST00000538971.2,ENST00000360905.4,ENST00000543086.3,ENST00000545948.1,ENST00000542302.2,ENST00000440394.3,ENST00000397203.2,ENST00000347735.6 |
| exon_skip_78958 | 12 | 1480998:1481143:1517314:1517413:1553727:1553755 | 1517314:1517413 | ENSG00000082805.15 | ENST00000589028.1,ENST00000355446.5,ENST00000546231.2,ENST00000360905.4,ENST00000543086.3,ENST00000397203.2 |
| exon_skip_78960 | 12 | 1517357:1517413:1519554:1519619:1553727:1553755 | 1519554:1519619 | ENSG00000082805.15 | ENST00000588412.1,ENST00000538971.2,ENST00000545948.1,ENST00000542302.2,ENST00000440394.3,ENST00000347735.6 |
| exon_skip_78961 | 12 | 1517357:1517413:1553727:1553916:1599258:1599543 | 1553727:1553916 | ENSG00000082805.15 | ENST00000589028.1,ENST00000546231.2,ENST00000360905.4,ENST00000543086.3,ENST00000397203.2 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENSG00000082805.15 | ENST00000355446.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ERC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_78927 | 12 | 1100463:1100488:1136913:1137738:1192329:1192746 | 1136913:1137738 | ENSG00000082805.15 | ENST00000543086.3,ENST00000360905.4 |
| exon_skip_78931 | 12 | 1100432:1100653:1136913:1137738:1192329:1192746 | 1136913:1137738 | ENSG00000082805.15 | ENST00000347735.6,ENST00000397203.2,ENST00000440394.3 |
| exon_skip_78937 | 12 | 1192738:1192746:1213915:1213990:1219357:1219513 | 1213915:1213990 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000542302.2,ENST00000347735.6,ENST00000397203.2,ENST00000592048.1,ENST00000440394.3,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000538971.2,ENST00000539007.1,ENST00000536573.2 |
| exon_skip_78940 | 12 | 1219357:1219513:1221380:1221464:1225031:1225199 | 1221380:1221464 | ENSG00000082805.15 | ENST00000546231.2,ENST00000542302.2,ENST00000397203.2,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000539007.1 |
| exon_skip_78941 | 12 | 1219357:1219513:1221380:1221473:1225031:1225199 | 1221380:1221473 | ENSG00000082805.15 | ENST00000536573.2 |
| exon_skip_78942 | 12 | 1219357:1219513:1225031:1225199:1250785:1250906 | 1225031:1225199 | ENSG00000082805.15 | ENST00000543086.3,ENST00000347735.6,ENST00000440394.3,ENST00000538971.2 |
| exon_skip_78944 | 12 | 1250785:1250953:1289705:1289843:1291090:1291231 | 1289705:1289843 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000542302.2,ENST00000347735.6,ENST00000397203.2,ENST00000440394.3,ENST00000545948.1,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000538971.2,ENST00000536573.2 |
| exon_skip_78945 | 12 | 1289705:1289843:1291090:1291231:1292446:1292587 | 1291090:1291231 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000542302.2,ENST00000347735.6,ENST00000397203.2,ENST00000440394.3,ENST00000545948.1,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000538971.2,ENST00000536573.2 |
| exon_skip_78946 | 12 | 1299061:1299218:1313666:1313678:1345934:1346070 | 1313666:1313678 | ENSG00000082805.15 | ENST00000546231.2,ENST00000542302.2,ENST00000347735.6,ENST00000440394.3,ENST00000545948.1,ENST00000538971.2 |
| exon_skip_78947 | 12 | 1345934:1346070:1372199:1372331:1399017:1399178 | 1372199:1372331 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000397203.2,ENST00000440394.3,ENST00000545948.1,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000588412.1 |
| exon_skip_78950 | 12 | 1372199:1372331:1399017:1399178:1480998:1481118 | 1399017:1399178 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000397203.2,ENST00000440394.3,ENST00000545948.1,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000588412.1,ENST00000543263.2 |
| exon_skip_78953 | 12 | 1399017:1399178:1480998:1481143:1517314:1517413 | 1480998:1481143 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000542302.2,ENST00000347735.6,ENST00000397203.2,ENST00000440394.3,ENST00000545948.1,ENST00000360905.4,ENST00000589028.1,ENST00000355446.5,ENST00000538971.2,ENST00000588412.1 |
| exon_skip_78960 | 12 | 1517357:1517413:1519554:1519619:1553727:1553755 | 1519554:1519619 | ENSG00000082805.15 | ENST00000542302.2,ENST00000347735.6,ENST00000440394.3,ENST00000545948.1,ENST00000538971.2,ENST00000588412.1 |
| exon_skip_78961 | 12 | 1517357:1517413:1553727:1553916:1599258:1599543 | 1553727:1553916 | ENSG00000082805.15 | ENST00000543086.3,ENST00000546231.2,ENST00000397203.2,ENST00000360905.4,ENST00000589028.1 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENSG00000082805.15 | ENST00000355446.5 |
| 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 ERC1 |
| 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 ERC1 |
| 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 ERC1 |
| - 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. |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_78927 exon_skip_78931 | 1136914 | 1137738 | 1137560 | 1137560 | Frame_Shift_Del | A | - | p.E164fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_78932 | 1137505 | 1137738 | 1137560 | 1137560 | Frame_Shift_Del | A | - | p.E164fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_78927 exon_skip_78931 | 1136914 | 1137738 | 1137560 | 1137560 | Frame_Shift_Del | A | - | p.E164fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_78932 | 1137505 | 1137738 | 1137560 | 1137560 | Frame_Shift_Del | A | - | p.E164fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_78939 | 1219358 | 1219513 | 1219449 | 1219449 | Frame_Shift_Del | A | - | p.E418fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_78945 | 1291091 | 1291231 | 1291111 | 1291111 | Frame_Shift_Del | A | - | p.L632fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_78950 | 1399018 | 1399178 | 1399109 | 1399109 | Frame_Shift_Del | A | - | p.E904fs |
| UCEC | TCGA-FI-A2EW-01 | exon_skip_78927 exon_skip_78931 | 1136914 | 1137738 | 1137169 | 1137169 | Nonsense_Mutation | C | T | p.R34* |
| READ | TCGA-AG-A002-01 | exon_skip_78927 exon_skip_78931 | 1136914 | 1137738 | 1137559 | 1137559 | Nonsense_Mutation | G | T | p.E164X |
| READ | TCGA-AG-A002-01 | exon_skip_78932 | 1137505 | 1137738 | 1137559 | 1137559 | Nonsense_Mutation | G | T | p.E164X |
| STAD | TCGA-BR-8487-01 | exon_skip_78927 exon_skip_78931 | 1136914 | 1137738 | 1137661 | 1137661 | Nonsense_Mutation | C | T | p.R198* |
| STAD | TCGA-BR-8487-01 | exon_skip_78927 exon_skip_78931 | 1136914 | 1137738 | 1137661 | 1137661 | Nonsense_Mutation | C | T | p.R198X |
| STAD | TCGA-BR-8487-01 | exon_skip_78932 | 1137505 | 1137738 | 1137661 | 1137661 | Nonsense_Mutation | C | T | p.R198* |
| STAD | TCGA-BR-8487-01 | exon_skip_78932 | 1137505 | 1137738 | 1137661 | 1137661 | Nonsense_Mutation | C | T | p.R198X |
| BLCA | TCGA-XF-A9T8-01 | exon_skip_78939 | 1219358 | 1219513 | 1219412 | 1219412 | Nonsense_Mutation | C | T | p.Q406* |
| THCA | TCGA-CE-A3MD-01 | exon_skip_78942 | 1225032 | 1225199 | 1225197 | 1225197 | Nonsense_Mutation | G | T | p.E495X |
| THCA | TCGA-CE-A3MD-01 | exon_skip_78942 | 1225032 | 1225199 | 1225197 | 1225197 | Nonsense_Mutation | G | T | p.E523* |
| LGG | TCGA-DU-6392-01 | exon_skip_78945 | 1291091 | 1291231 | 1291148 | 1291148 | Nonsense_Mutation | G | T | p.E645* |
| LUAD | TCGA-78-7155-01 | exon_skip_78945 | 1291091 | 1291231 | 1291232 | 1291232 | Splice_Site | G | T | p.E672_splice |
| LUSC | TCGA-66-2767-01 | exon_skip_78953 | 1480999 | 1481143 | 1480998 | 1480998 | Splice_Site | G | A | p.K927_splice |
| - 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 |
| RKO_LARGE_INTESTINE | 1136914 | 1137738 | 1137352 | 1137352 | Frame_Shift_Del | G | - | p.G96fs |
| 2313287_STOMACH | 1291091 | 1291231 | 1291166 | 1291166 | Frame_Shift_Del | A | - | p.K652fs |
| AN3CA_ENDOMETRIUM | 1480999 | 1481143 | 1481069 | 1481071 | In_Frame_Del | AAG | - | p.K953del |
| HEC1A_ENDOMETRIUM | 1136914 | 1137738 | 1137146 | 1137146 | Missense_Mutation | G | A | p.R26H |
| HEC1_ENDOMETRIUM | 1136914 | 1137738 | 1137146 | 1137146 | Missense_Mutation | G | A | p.R26H |
| HEC1B_ENDOMETRIUM | 1136914 | 1137738 | 1137146 | 1137146 | Missense_Mutation | G | A | p.R26H |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1136914 | 1137738 | 1137163 | 1137163 | Missense_Mutation | C | T | p.H32Y |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1136914 | 1137738 | 1137184 | 1137184 | Missense_Mutation | G | C | p.G39R |
| NCIH835_LUNG | 1136914 | 1137738 | 1137233 | 1137233 | Missense_Mutation | C | T | p.S55L |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1136914 | 1137738 | 1137286 | 1137286 | Missense_Mutation | T | C | p.Y73H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1136914 | 1137738 | 1137313 | 1137313 | Missense_Mutation | T | G | p.S82A |
| TE4_OESOPHAGUS | 1136914 | 1137738 | 1137316 | 1137316 | Missense_Mutation | G | A | p.E83K |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1136914 | 1137738 | 1137340 | 1137340 | Missense_Mutation | C | T | p.L91F |
| MDST8_LARGE_INTESTINE | 1136914 | 1137738 | 1137376 | 1137376 | Missense_Mutation | C | T | p.R103W |
| NCIH1693_LUNG | 1136914 | 1137738 | 1137390 | 1137390 | Missense_Mutation | G | T | p.M107I |
| NCIH1819_LUNG | 1136914 | 1137738 | 1137390 | 1137390 | Missense_Mutation | G | T | p.M107I |
| CW2_LARGE_INTESTINE | 1136914 | 1137738 | 1137439 | 1137439 | Missense_Mutation | G | A | p.A124T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1136914 | 1137738 | 1137581 | 1137581 | Missense_Mutation | A | G | p.D171G |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1137505 | 1137738 | 1137581 | 1137581 | Missense_Mutation | A | G | p.D171G |
| MCC142_SKIN | 1136914 | 1137738 | 1137646 | 1137646 | Missense_Mutation | G | C | p.E193Q |
| MCC142_SKIN | 1137505 | 1137738 | 1137646 | 1137646 | Missense_Mutation | G | C | p.E193Q |
| SBC1_LUNG | 1136914 | 1137738 | 1137676 | 1137676 | Missense_Mutation | G | T | p.D203Y |
| SBC1_LUNG | 1137505 | 1137738 | 1137676 | 1137676 | Missense_Mutation | G | T | p.D203Y |
| SNU1040_LARGE_INTESTINE | 1136914 | 1137738 | 1137731 | 1137731 | Missense_Mutation | A | G | p.E221G |
| SNU1040_LARGE_INTESTINE | 1137505 | 1137738 | 1137731 | 1137731 | Missense_Mutation | A | G | p.E221G |
| SNU1040_LARGE_INTESTINE | 1213916 | 1213990 | 1213953 | 1213953 | Missense_Mutation | C | T | p.A375V |
| M14_SKIN | 1219358 | 1219513 | 1219371 | 1219371 | Missense_Mutation | C | T | p.S392F |
| MDAMB435S_SKIN | 1219358 | 1219513 | 1219371 | 1219371 | Missense_Mutation | C | T | p.S392F |
| CCK81_LARGE_INTESTINE | 1219358 | 1219513 | 1219382 | 1219382 | Missense_Mutation | C | T | p.R396C |
| 22RV1_PROSTATE | 1219358 | 1219513 | 1219383 | 1219383 | Missense_Mutation | G | A | p.R396H |
| SNU1_STOMACH | 1219358 | 1219513 | 1219383 | 1219383 | Missense_Mutation | G | A | p.R396H |
| MFE319_ENDOMETRIUM | 1219358 | 1219513 | 1219398 | 1219398 | Missense_Mutation | T | C | p.L401P |
| JHUEM7_ENDOMETRIUM | 1219358 | 1219513 | 1219408 | 1219408 | Missense_Mutation | A | C | p.E404D |
| CORL321_PLEURA | 1219358 | 1219513 | 1219425 | 1219425 | Missense_Mutation | C | T | p.S410L |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1219358 | 1219513 | 1219440 | 1219440 | Missense_Mutation | G | A | p.S415N |
| GP2D_LARGE_INTESTINE | 1219358 | 1219513 | 1219481 | 1219481 | Missense_Mutation | T | C | p.Y429H |
| MDAMB436_BREAST | 1219358 | 1219513 | 1219502 | 1219502 | Missense_Mutation | A | T | p.M436L |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1221381 | 1221464 | 1221409 | 1221409 | Missense_Mutation | C | T | p.S449L |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1221381 | 1221473 | 1221409 | 1221409 | Missense_Mutation | C | T | p.S449L |
| NCIH1341_LUNG | 1221381 | 1221464 | 1221453 | 1221453 | Missense_Mutation | C | T | p.L464F |
| NCIH1341_LUNG | 1221381 | 1221473 | 1221453 | 1221453 | Missense_Mutation | C | T | p.L464F |
| HS616T_FIBROBLAST | 1225032 | 1225199 | 1225172 | 1225172 | Missense_Mutation | G | T | p.E514D |
| NCIH2087_LUNG | 1289706 | 1289843 | 1289715 | 1289715 | Missense_Mutation | C | A | p.L583I |
| 2313287_STOMACH | 1289706 | 1289843 | 1289766 | 1289766 | Missense_Mutation | C | T | p.R600W |
| CCK81_LARGE_INTESTINE | 1291091 | 1291231 | 1291106 | 1291106 | Missense_Mutation | C | T | p.R631C |
| NCCSTCK140_STOMACH | 1291091 | 1291231 | 1291142 | 1291142 | Missense_Mutation | A | C | p.K643Q |
| HT115_LARGE_INTESTINE | 1291091 | 1291231 | 1291181 | 1291181 | Missense_Mutation | G | T | p.D656Y |
| COV318_OVARY | 1291091 | 1291231 | 1291217 | 1291217 | Missense_Mutation | C | G | p.L668V |
| KYSE30_OESOPHAGUS | 1291091 | 1291231 | 1291221 | 1291221 | Missense_Mutation | C | T | p.S669L |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1399018 | 1399178 | 1399048 | 1399048 | Missense_Mutation | G | C | p.V884L |
| SKRC20_KIDNEY | 1399018 | 1399178 | 1399109 | 1399109 | Missense_Mutation | A | G | p.E904G |
| JHUEM7_ENDOMETRIUM | 1399018 | 1399178 | 1399135 | 1399135 | Missense_Mutation | C | T | p.R913W |
| SW48_LARGE_INTESTINE | 1399018 | 1399178 | 1399148 | 1399148 | Missense_Mutation | G | T | p.R917M |
| SNU81_LARGE_INTESTINE | 1399018 | 1399178 | 1399156 | 1399156 | Missense_Mutation | T | G | p.L920V |
| 769P_KIDNEY | 1480999 | 1481143 | 1481040 | 1481040 | Missense_Mutation | A | T | p.N941I |
| MCC13_SKIN | 1480999 | 1481143 | 1481061 | 1481061 | Missense_Mutation | C | T | p.S948L |
| SNU1040_LARGE_INTESTINE | 1553728 | 1553916 | 1553780 | 1553780 | Missense_Mutation | A | G | p.Y1026C |
| COGN305_AUTONOMIC_GANGLIA | 1553728 | 1553916 | 1553831 | 1553831 | Missense_Mutation | G | T | p.R1043L |
| HCC1171_LUNG | 1553728 | 1553916 | 1553871 | 1553871 | Missense_Mutation | C | G | p.D1056E |
| C4I_CERVIX | 1553728 | 1553916 | 1553884 | 1553884 | Missense_Mutation | G | A | p.E1061K |
| SW48_LARGE_INTESTINE | 1553728 | 1553916 | 1553908 | 1553908 | Missense_Mutation | C | T | p.R1069W |
| KMBC2_URINARY_TRACT | 1136914 | 1137738 | 1137267 | 1137267 | Nonsense_Mutation | T | A | p.Y66* |
| COLO792_SKIN | 1517315 | 1517413 | 1517324 | 1517324 | Nonsense_Mutation | C | T | p.R979* |
| HCT15_LARGE_INTESTINE | 1399018 | 1399178 | 1399177 | 1399177 | Splice_Site | A | G | p.K927E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERC1 |
| 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 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | ESCA | rs11609462 | chr12:1590069 | G/A | 1.87e-09 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | ESCA | rs11613546 | chr12:1590013 | C/T | 3.82e-09 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | LGG | rs11609462 | chr12:1590069 | G/A | 2.79e-06 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | LGG | rs11613546 | chr12:1590013 | C/T | 6.42e-06 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | LUSC | rs11609462 | chr12:1590069 | G/A | 7.09e-11 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | LUSC | rs11613546 | chr12:1590013 | C/T | 1.06e-10 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | STAD | rs11613546 | chr12:1590013 | C/T | 3.65e-04 |
| exon_skip_78966 | 12 | 1553727:1553916:1590008:1590064:1599258:1599543 | 1590008:1590064 | ENST00000355446.5 | STAD | rs11609462 | chr12:1590069 | G/A | 7.68e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERC1 |
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RelatedDrugs for ERC1 |
| 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 ERC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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