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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 KDELR3 |
 Gene summary |
| Gene information | Gene symbol | KDELR3 | Gene ID | 11015 |
| Gene name | KDEL endoplasmic reticulum protein retention receptor 3 | |
| Synonyms | ERD2L3 | |
| Cytomap | 22q13.1 | |
| Type of gene | protein-coding | |
| Description | ER lumen protein-retaining receptor 3KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3KDEL receptor 3 | |
| Modification date | 20180523 | |
| UniProtAcc | O43731 | |
| Context | PubMed: KDELR3 [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 KDELR3 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 KDELR3 |
| 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 KDELR3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_365519 | 22 | 38864082:38864329:38870527:38870628:38875597:38875756 | 38870527:38870628 | ENSG00000100196.6 | ENST00000409006.3 |
| exon_skip_365520 | 22 | 38870527:38870628:38875597:38875756:38877216:38877469 | 38875597:38875756 | ENSG00000100196.6 | ENST00000216014.4,ENST00000471268.1,ENST00000409006.3 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENSG00000100196.6 | ENST00000216014.4,ENST00000471268.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KDELR3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_365519 | 22 | 38864082:38864329:38870527:38870628:38875597:38875756 | 38870527:38870628 | ENSG00000100196.6 | ENST00000409006.3 |
| exon_skip_365520 | 22 | 38870527:38870628:38875597:38875756:38877216:38877469 | 38875597:38875756 | ENSG00000100196.6 | ENST00000216014.4,ENST00000409006.3,ENST00000471268.1 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENSG00000100196.6 | ENST00000216014.4,ENST00000471268.1 |
| 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 KDELR3 |
| 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 |
| ENST00000216014 | 38877216 | 38877469 | Frame-shift |
| ENST00000216014 | 38875597 | 38875756 | In-frame |
| 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 |
| ENST00000216014 | 38877216 | 38877469 | Frame-shift |
| ENST00000216014 | 38875597 | 38875756 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KDELR3 |
| 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 |
| ENST00000216014 | 1745 | 214 | 38875597 | 38875756 | 365 | 523 | 64 | 117 |
| 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 |
| ENST00000216014 | 1745 | 214 | 38875597 | 38875756 | 365 | 523 | 64 | 117 |
| 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 |
| O43731 | 64 | 117 | 1 | 214 | Chain | ID=PRO_0000194158;Note=ER lumen protein-retaining receptor 3 |
| O43731 | 64 | 117 | 81 | 96 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43731 | 64 | 117 | 111 | 117 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43731 | 64 | 117 | 62 | 80 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43731 | 64 | 117 | 97 | 110 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O43731 | 64 | 117 | 1 | 214 | Chain | ID=PRO_0000194158;Note=ER lumen protein-retaining receptor 3 |
| O43731 | 64 | 117 | 81 | 96 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43731 | 64 | 117 | 111 | 117 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43731 | 64 | 117 | 62 | 80 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43731 | 64 | 117 | 97 | 110 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KDELR3 |
| - 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-G3-A3CJ-01 | exon_skip_365520 | 38875598 | 38875756 | 38875602 | 38875602 | Frame_Shift_Del | T | - | p.V66fs |
| LUAD | TCGA-17-Z062-01 | exon_skip_365520 | 38875598 | 38875756 | 38875737 | 38875738 | Frame_Shift_Del | AC | - | p.Y111fs |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_365520 | 38875598 | 38875756 | 38875737 | 38875738 | Frame_Shift_Del | AC | - | p.Y111fs |
| STAD | TCGA-BR-6452-01 | exon_skip_365525 | 38877217 | 38877469 | 38877230 | 38877233 | Frame_Shift_Del | TCTC | - | p.122_123del |
| STAD | TCGA-BR-6452-01 | exon_skip_365525 | 38877217 | 38877469 | 38877230 | 38877233 | Frame_Shift_Del | TCTC | - | p.F122fs |
| STAD | TCGA-BR-8295-01 | exon_skip_365525 | 38877217 | 38877469 | 38877230 | 38877233 | Frame_Shift_Del | TCTC | - | p.122_123del |
| STAD | TCGA-BR-8295-01 | exon_skip_365525 | 38877217 | 38877469 | 38877230 | 38877233 | Frame_Shift_Del | TCTC | - | p.F122fs |
| KIRC | TCGA-CJ-4902-01 | exon_skip_365525 | 38877217 | 38877469 | 38877232 | 38877235 | Frame_Shift_Del | TCTA | - | p.122_123del |
| KIRC | TCGA-CJ-4902-01 | exon_skip_365525 | 38877217 | 38877469 | 38877232 | 38877235 | Frame_Shift_Del | TCTA | - | p.SI123fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_365525 | 38877217 | 38877469 | 38877262 | 38877262 | Frame_Shift_Del | C | - | p.P133fs |
| KICH | TCGA-KO-8404-01 | exon_skip_365525 | 38877217 | 38877469 | 38877304 | 38877304 | Frame_Shift_Del | A | - | p.T146fs |
| KIRP | TCGA-A4-7915-01 | exon_skip_365525 | 38877217 | 38877469 | 38877225 | 38877225 | Nonsense_Mutation | G | A | p.W120* |
| KIRP | TCGA-A4-7915-01 | exon_skip_365525 | 38877217 | 38877469 | 38877225 | 38877225 | Nonsense_Mutation | G | A | p.W120X |
| - 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 |
| MELJUSO_SKIN | 38870528 | 38870628 | 38870617 | 38870617 | Missense_Mutation | A | C | p.T61P |
| SNU1040_LARGE_INTESTINE | 38875598 | 38875756 | 38875686 | 38875686 | Missense_Mutation | G | A | p.R94H |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38875598 | 38875756 | 38875727 | 38875727 | Missense_Mutation | C | A | p.L108I |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38877217 | 38877469 | 38877279 | 38877279 | Missense_Mutation | C | G | p.I138M |
| EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38877217 | 38877469 | 38877292 | 38877292 | Missense_Mutation | G | A | p.E143K |
| OAW42_OVARY | 38877217 | 38877469 | 38877302 | 38877302 | Missense_Mutation | C | T | p.T146I |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38877217 | 38877469 | 38877370 | 38877370 | Missense_Mutation | C | T | p.R169W |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 38877217 | 38877469 | 38877371 | 38877371 | Missense_Mutation | G | A | p.R169Q |
| SCC25_UPPER_AERODIGESTIVE_TRACT | 38877217 | 38877469 | 38877428 | 38877428 | Missense_Mutation | C | G | p.T188S |
| HS675T_FIBROBLAST | 38877217 | 38877469 | 38877456 | 38877456 | Missense_Mutation | G | T | p.L197F |
| BONNA12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38870528 | 38870628 | 38870580 | 38870580 | Nonsense_Mutation | C | G | p.Y48* |
| LN18_CENTRAL_NERVOUS_SYSTEM | 38877217 | 38877469 | 38877289 | 38877289 | Nonsense_Mutation | G | T | p.G142* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDELR3 |
| 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_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | CESC | rs12004 | chr22:38877461 | T/G | 2.57e-07 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | CESC | rs12004 | chr22:38877461 | T/G | 2.57e-07 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | COAD | rs12004 | chr22:38877461 | T/G | 2.99e-24 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | COAD | rs12004 | chr22:38877461 | T/G | 3.01e-24 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | BLCA | rs12004 | chr22:38877461 | T/G | 5.89e-17 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | BLCA | rs12004 | chr22:38877461 | T/G | 5.90e-17 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | ESCA | rs12004 | chr22:38877461 | T/G | 5.14e-09 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | ESCA | rs12004 | chr22:38877461 | T/G | 5.14e-09 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | HNSC | rs12004 | chr22:38877461 | T/G | 4.71e-33 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | HNSC | rs12004 | chr22:38877461 | T/G | 4.73e-33 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | KIRP | rs12004 | chr22:38877461 | T/G | 6.33e-10 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | KIRP | rs12004 | chr22:38877461 | T/G | 6.33e-10 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | KIRC | rs12004 | chr22:38877461 | T/G | 5.12e-19 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | KIRC | rs12004 | chr22:38877461 | T/G | 5.16e-19 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | LUAD | rs12004 | chr22:38877461 | T/G | 5.65e-44 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | LUAD | rs12004 | chr22:38877461 | T/G | 5.72e-44 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | LIHC | rs12004 | chr22:38877461 | T/G | 4.31e-17 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | LIHC | rs12004 | chr22:38877461 | T/G | 4.33e-17 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | LUSC | rs12004 | chr22:38877461 | T/G | 5.70e-32 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | LUSC | rs12004 | chr22:38877461 | T/G | 5.70e-32 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | PRAD | rs12004 | chr22:38877461 | T/G | 1.77e-28 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | PRAD | rs12004 | chr22:38877461 | T/G | 1.77e-28 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | SARC | rs12004 | chr22:38877461 | T/G | 3.33e-14 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | SARC | rs12004 | chr22:38877461 | T/G | 3.33e-14 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | SKCM | rs12004 | chr22:38877461 | T/G | 1.16e-09 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | SKCM | rs12004 | chr22:38877461 | T/G | 1.16e-09 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | STAD | rs12004 | chr22:38877461 | T/G | 1.64e-39 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | STAD | rs12004 | chr22:38877461 | T/G | 1.65e-39 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | THCA | rs12004 | chr22:38877461 | T/G | 8.81e-22 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | THCA | rs12004 | chr22:38877461 | T/G | 8.83e-22 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | UCEC | rs12004 | chr22:38877461 | T/G | 8.74e-06 |
| exon_skip_365525 | 22 | 38875597:38875756:38877216:38877469:38878500:38878927 | 38877216:38877469 | ENST00000216014.4,ENST00000471268.1 | UCEC | rs12004 | chr22:38877461 | T/G | 8.74e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDELR3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDELR3 |
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RelatedDrugs for KDELR3 |
| 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 KDELR3 |
| 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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