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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 RMND1 |
 Gene summary |
| Gene information | Gene symbol | RMND1 | Gene ID | 55005 |
| Gene name | required for meiotic nuclear division 1 homolog | |
| Synonyms | C6orf96|COXPD11|RMD1|bA351K16|bA351K16.3 | |
| Cytomap | 6q25.1 | |
| Type of gene | protein-coding | |
| Description | required for meiotic nuclear division protein 1 homolog | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NWS8 | |
| Context | PubMed: RMND1 [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 |
| RMND1 | GO:0070131 | positive regulation of mitochondrial translation | 25604853 |
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Exon skipping events across known transcript of Ensembl for RMND1 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 RMND1 |
| 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 RMND1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462953 | 6 | 151738470:151738534:151742379:151742456:151743675:151743740 | 151742379:151742456 | ENSG00000155906.12 | ENST00000444024.1,ENST00000367303.4,ENST00000336451.3 |
| exon_skip_462957 | 6 | 151742379:151742456:151743675:151743740:151744659:151744766 | 151743675:151743740 | ENSG00000155906.12 | ENST00000444024.1,ENST00000367303.4,ENST00000336451.3 |
| exon_skip_462959 | 6 | 151744659:151744766:151748616:151748717:151751272:151751312 | 151748616:151748717 | ENSG00000155906.12 | ENST00000444024.1,ENST00000367303.4,ENST00000336451.3 |
| exon_skip_462967 | 6 | 151754289:151754365:151757580:151757689:151766442:151766960 | 151757580:151757689 | ENSG00000155906.12 | ENST00000367303.4 |
| exon_skip_462968 | 6 | 151754289:151754365:151757580:151757689:151773150:151773254 | 151757580:151757689 | ENSG00000155906.12 | ENST00000444024.1 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENSG00000155906.12 | ENST00000367303.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RMND1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462953 | 6 | 151738470:151738534:151742379:151742456:151743675:151743740 | 151742379:151742456 | ENSG00000155906.12 | ENST00000336451.3,ENST00000367303.4,ENST00000444024.1 |
| exon_skip_462957 | 6 | 151742379:151742456:151743675:151743740:151744659:151744766 | 151743675:151743740 | ENSG00000155906.12 | ENST00000336451.3,ENST00000367303.4,ENST00000444024.1 |
| exon_skip_462959 | 6 | 151744659:151744766:151748616:151748717:151751272:151751312 | 151748616:151748717 | ENSG00000155906.12 | ENST00000336451.3,ENST00000367303.4,ENST00000444024.1 |
| exon_skip_462967 | 6 | 151754289:151754365:151757580:151757689:151766442:151766960 | 151757580:151757689 | ENSG00000155906.12 | ENST00000367303.4 |
| exon_skip_462968 | 6 | 151754289:151754365:151757580:151757689:151773150:151773254 | 151757580:151757689 | ENSG00000155906.12 | ENST00000444024.1 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENSG00000155906.12 | ENST00000367303.4 |
| 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 RMND1 |
| 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 |
| ENST00000367303 | 151766442 | 151766960 | 3UTR-3CDS |
| ENST00000367303 | 151742379 | 151742456 | Frame-shift |
| ENST00000367303 | 151743675 | 151743740 | Frame-shift |
| ENST00000367303 | 151748616 | 151748717 | Frame-shift |
| ENST00000367303 | 151757580 | 151757689 | 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 |
| ENST00000367303 | 151766442 | 151766960 | 3UTR-3CDS |
| ENST00000367303 | 151742379 | 151742456 | Frame-shift |
| ENST00000367303 | 151743675 | 151743740 | Frame-shift |
| ENST00000367303 | 151748616 | 151748717 | Frame-shift |
| ENST00000367303 | 151757580 | 151757689 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RMND1 |
| 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 RMND1 |
| - 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-A39Y-01 | exon_skip_462970 | 151766443 | 151766960 | 151766726 | 151766726 | Frame_Shift_Del | T | - | p.K74fs |
| STAD | TCGA-BR-7703-01 | exon_skip_462970 | 151766443 | 151766960 | 151766726 | 151766726 | Frame_Shift_Del | T | - | p.K74fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_462970 | 151766443 | 151766960 | 151766726 | 151766726 | Frame_Shift_Del | T | - | p.K74fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_462970 | 151766443 | 151766960 | 151766838 | 151766839 | Frame_Shift_Ins | - | A | p.L36fs |
| BRCA | TCGA-C8-A133-01 | exon_skip_462957 | 151743676 | 151743740 | 151743699 | 151743699 | Nonsense_Mutation | C | A | p.E327* |
| BLCA | TCGA-KQ-A41Q-01 | exon_skip_462967 exon_skip_462968 | 151757581 | 151757689 | 151757629 | 151757629 | Nonsense_Mutation | G | A | p.Q189* |
| HNSC | TCGA-CN-5374-01 | exon_skip_462970 | 151766443 | 151766960 | 151766520 | 151766520 | Nonsense_Mutation | G | A | p.Q143* |
| LIHC | TCGA-G3-AAUZ-01 | exon_skip_462959 | 151748617 | 151748717 | 151748616 | 151748616 | Splice_Site | C | T | . |
| - 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 |
| PACADD137_PANCREAS | 151748617 | 151748717 | 151748630 | 151748634 | Frame_Shift_Del | AGTTA | - | p.NY272fs |
| 22RV1_PROSTATE | 151766443 | 151766960 | 151766725 | 151766726 | Frame_Shift_Ins | - | T | p.K74fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151742380 | 151742456 | 151742399 | 151742399 | Missense_Mutation | C | T | p.G354S |
| NCIH524_LUNG | 151742380 | 151742456 | 151742418 | 151742418 | Missense_Mutation | T | A | p.E347D |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151757581 | 151757689 | 151757652 | 151757652 | Missense_Mutation | T | C | p.E181G |
| KNS81_CENTRAL_NERVOUS_SYSTEM | 151757581 | 151757689 | 151757656 | 151757656 | Missense_Mutation | C | T | p.D180N |
| GOTO_AUTONOMIC_GANGLIA | 151757581 | 151757689 | 151757656 | 151757656 | Missense_Mutation | C | T | p.D180N |
| KNS81FD_CENTRAL_NERVOUS_SYSTEM | 151757581 | 151757689 | 151757656 | 151757656 | Missense_Mutation | C | T | p.D180N |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151757581 | 151757689 | 151757671 | 151757671 | Missense_Mutation | C | A | p.A175S |
| SNU1040_LARGE_INTESTINE | 151766443 | 151766960 | 151766478 | 151766478 | Missense_Mutation | A | G | p.S157P |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 151766443 | 151766960 | 151766495 | 151766495 | Missense_Mutation | G | A | p.S151F |
| SNGM_ENDOMETRIUM | 151766443 | 151766960 | 151766705 | 151766705 | Missense_Mutation | G | T | p.S81Y |
| GP2D_LARGE_INTESTINE | 151766443 | 151766960 | 151766719 | 151766719 | Missense_Mutation | A | T | p.D76E |
| GP5D_LARGE_INTESTINE | 151766443 | 151766960 | 151766719 | 151766719 | Missense_Mutation | A | T | p.D76E |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151766443 | 151766960 | 151766759 | 151766759 | Missense_Mutation | T | C | p.N63S |
| EMCBAC2_LUNG | 151766443 | 151766960 | 151766879 | 151766879 | Missense_Mutation | C | T | p.R23Q |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 151766443 | 151766960 | 151766897 | 151766897 | Nonsense_Mutation | G | C | p.S17* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RMND1 |
| 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_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | COAD | rs3734800 | chr6:151766552 | G/A | 1.43e-03 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | HNSC | rs11550103 | chr6:151766822 | G/T | 5.35e-04 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | BRCA | rs11550103 | chr6:151766822 | G/T | 3.48e-09 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | BRCA | rs11550103 | chr6:151766822 | G/T | 2.90e-06 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | LGG | rs11550103 | chr6:151766822 | G/T | 1.84e-03 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | LGG | rs11550103 | chr6:151766822 | G/T | 3.18e-03 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | LUAD | rs3734800 | chr6:151766552 | G/A | 2.38e-05 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | LUAD | rs11550103 | chr6:151766822 | G/T | 1.19e-03 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | LUSC | rs3734800 | chr6:151766552 | G/A | 9.57e-05 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | STAD | rs3734800 | chr6:151766552 | G/A | 7.18e-05 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | THCA | rs3734800 | chr6:151766552 | G/A | 2.28e-04 |
| exon_skip_462970 | 6 | 151757580:151757689:151766442:151766960:151773150:151773254 | 151766442:151766960 | ENST00000367303.4 | THCA | rs11550103 | chr6:151766822 | G/T | 3.44e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RMND1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RMND1 |
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RelatedDrugs for RMND1 |
| 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 RMND1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RMND1 | C3554067 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 | 1 | ORPHANET;UNIPROT |
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