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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 EMC10 |
 Gene summary |
| Gene information | Gene symbol | EMC10 | Gene ID | 284361 |
| Gene name | ER membrane protein complex subunit 10 | |
| Synonyms | C19orf63|HSM1|HSS1 | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | ER membrane protein complex subunit 10UPF0510 protein INM02hematopoietic signal peptide-containing membrane domain-containing 1hematopoietic signal peptide-containing secreted 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5UCC4 | |
| Context | PubMed: EMC10 [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 EMC10 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 EMC10 |
| 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 EMC10 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENSG00000161671.12 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 |
| exon_skip_310302 | 19 | 50984140:50984234:50985117:50985204:50985405:50985419 | 50985117:50985204 | ENSG00000161671.12 | ENST00000601780.1,ENST00000376918.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EMC10 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENSG00000161671.12 | ENST00000601780.1,ENST00000334976.6,ENST00000376918.3,ENST00000598585.1,ENST00000599293.1 |
| exon_skip_310302 | 19 | 50984140:50984234:50985117:50985204:50985405:50985419 | 50985117:50985204 | ENSG00000161671.12 | ENST00000601780.1,ENST00000376918.3 |
| 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 EMC10 |
| 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 |
| ENST00000334976 | 50983837 | 50984019 | 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 |
| ENST00000334976 | 50983837 | 50984019 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EMC10 |
| 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 EMC10 |
| - 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. |
EMC10_ESCA_exon_skip_310302_psi_boxplot.png |
EMC10_HNSC_exon_skip_310302_psi_boxplot.png |
EMC10_PRAD_exon_skip_310302_psi_boxplot.png |
EMC10_THCA_exon_skip_310302_psi_boxplot.png |
| - 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-G3-A3CJ-01 | exon_skip_310301 | 50983838 | 50984019 | 50983927 | 50983927 | Frame_Shift_Del | C | - | p.H164fs |
| ESCA | TCGA-IC-A6RF-01 | exon_skip_310302 | 50985118 | 50985204 | 50985132 | 50985132 | Frame_Shift_Del | G | - | p.A234fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_310302 | 50985118 | 50985204 | 50985132 | 50985132 | Frame_Shift_Del | G | - | p.A234fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_310302 | 50985118 | 50985204 | 50985132 | 50985132 | Frame_Shift_Del | G | - | p.L231fs |
| PRAD | TCGA-EJ-7782-01 | exon_skip_310302 | 50985118 | 50985204 | 50985132 | 50985132 | Frame_Shift_Del | G | - | p.L231fs |
| HNSC | TCGA-CV-5976-01 | exon_skip_310302 | 50985118 | 50985204 | 50985131 | 50985132 | Frame_Shift_Ins | - | G | p.R231fs |
| LUAD | TCGA-17-Z030-01 | exon_skip_310302 | 50985118 | 50985204 | 50985131 | 50985132 | Frame_Shift_Ins | - | G | p.R231fs |
| THCA | TCGA-IM-A3ED-01 | exon_skip_310302 | 50985118 | 50985204 | 50985131 | 50985132 | Frame_Shift_Ins | - | G | p.R231fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_310302 | |
| Skipped exon start: 50985118 | |
| Skipped exon end: 50985204 | |
| Mutation start: 50985132 | |
| Mutation end: 50985132 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L231fs | |
| Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_310302 | |
| Skipped exon start: 50985118 | |
| Skipped exon end: 50985204 | |
| Mutation start: 50985132 | |
| Mutation end: 50985132 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.A234fs | |
exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_389081_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_421270_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_433436_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_461351_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_461353_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_464726_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_47552_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_517614_ESCA_TCGA-L5-A8NM-01.png | |
 | Sample: TCGA-IC-A6RF-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_310302 | |
| Skipped exon start: 50985118 | |
| Skipped exon end: 50985204 | |
| Mutation start: 50985132 | |
| Mutation end: 50985132 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.A234fs | |
exon_skip_310302_ESCA_TCGA-IC-A6RF-01.png | |
 | Sample: TCGA-CV-5976-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_310302 | |
| Skipped exon start: 50985118 | |
| Skipped exon end: 50985204 | |
| Mutation start: 50985131 | |
| Mutation end: 50985132 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.R231fs | |
exon_skip_310302_HNSC_TCGA-CV-5976-01.png | |
 | Sample: TCGA-EJ-7782-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_310302 | |
| Skipped exon start: 50985118 | |
| Skipped exon end: 50985204 | |
| Mutation start: 50985132 | |
| Mutation end: 50985132 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L231fs | |
exon_skip_112584_PRAD_TCGA-EJ-7782-01.png | |
exon_skip_300499_PRAD_TCGA-EJ-7782-01.png | |
exon_skip_310302_PRAD_TCGA-EJ-7782-01.png | |
 | Sample: TCGA-IM-A3ED-01 |
| Cancer type: THCA | |
| ESID: exon_skip_310302 | |
| Skipped exon start: 50985118 | |
| Skipped exon end: 50985204 | |
| Mutation start: 50985131 | |
| Mutation end: 50985132 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.R231fs | |
exon_skip_310302_THCA_TCGA-IM-A3ED-01.png | |
| - 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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50983838 | 50984019 | 50983865 | 50983865 | Missense_Mutation | G | A | p.D144N |
| KM12_LARGE_INTESTINE | 50983838 | 50984019 | 50983883 | 50983883 | Missense_Mutation | G | A | p.V150M |
| WM793_SKIN | 50983838 | 50984019 | 50983949 | 50983949 | Missense_Mutation | G | C | p.E172Q |
| SBC5_LUNG | 50983838 | 50984019 | 50983961 | 50983961 | Missense_Mutation | G | C | p.V176L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EMC10 |
| 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_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | GBM | rs10409679 | chr19:50983930 | C/T | 7.44e-04 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | BRCA | rs10409679 | chr19:50983930 | C/T | 5.32e-05 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | KIRC | rs10409679 | chr19:50983930 | C/T | 8.72e-06 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | LIHC | rs10409679 | chr19:50983930 | C/T | 4.90e-04 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | PAAD | rs10409679 | chr19:50983930 | C/T | 7.13e-04 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | PRAD | rs10409679 | chr19:50983930 | C/T | 8.71e-07 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | TGCT | rs10409679 | chr19:50983930 | C/T | 8.60e-04 |
| exon_skip_310301 | 19 | 50983367:50983472:50983837:50984019:50984140:50984234 | 50983837:50984019 | ENST00000599293.1,ENST00000334976.6,ENST00000601780.1,ENST00000376918.3,ENST00000598585.1 | THCA | rs10409679 | chr19:50983930 | C/T | 8.87e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EMC10 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EMC10 |
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RelatedDrugs for EMC10 |
| 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 EMC10 |
| 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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