|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | Open reading frame (ORF) annotation in the exon skipping event |
![]() | |
![]() | |
![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
![]() | |
![]() |
Gene summary for MARCH6 |
Gene summary |
| Gene information | Gene symbol | MARCH6 | Gene ID | 10299 |
| Gene name | membrane associated ring-CH-type finger 6 | |
| Synonyms | DOA10|MARCH-VI|RNF176|TEB4 | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase MARCH6RING finger protein 176RING-type E3 ubiquitin transferase MARCH6doa10 homologmembrane associated ring finger 6membrane-associated RING finger protein 6membrane-associated RING-CH finger protein 6membrane-associated | |
| Modification date | 20180523 | |
| UniProtAcc | O60337 | |
| Context | PubMed: MARCH6 [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 |
| MARCH6 | GO:0010498 | proteasomal protein catabolic process | 15673284 |
| MARCH6 | GO:0070936 | protein K48-linked ubiquitination | 15673284 |
Top |
Exon skipping events across known transcript of Ensembl for MARCH6 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. |
![]() |
Top |
Gene isoform structures and expression levels for MARCH6 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for MARCH6 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433949 | 5 | 10378870:10378944:10381911:10382055:10387105:10387178 | 10381911:10382055 | ENSG00000145495.10 | ENST00000511802.1,ENST00000507863.1,ENST00000274140.5,ENST00000510872.1 |
| exon_skip_433952 | 5 | 10378870:10378944:10387105:10387178:10390443:10390603 | 10387105:10387178 | ENSG00000145495.10 | ENST00000449913.2 |
| exon_skip_433956 | 5 | 10381911:10382055:10387105:10387178:10390443:10390603 | 10387105:10387178 | ENSG00000145495.10 | ENST00000511802.1,ENST00000507863.1,ENST00000274140.5,ENST00000510872.1 |
| exon_skip_433959 | 5 | 10387105:10387178:10390443:10390612:10391653:10391686 | 10390443:10390612 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433961 | 5 | 10394864:10394897:10397404:10397456:10400895:10400954 | 10397404:10397456 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433967 | 5 | 10402495:10402564:10402644:10402719:10403518:10403653 | 10402644:10402719 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433972 | 5 | 10405669:10405789:10407213:10407314:10410250:10410388 | 10407213:10407314 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433973 | 5 | 10410264:10410388:10411444:10411649:10414544:10414614 | 10411444:10411649 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5,ENST00000512449.1 |
| exon_skip_433982 | 5 | 10414544:10414614:10415584:10415781:10417381:10417516 | 10415584:10415781 | ENSG00000145495.10 | ENST00000512449.1 |
| exon_skip_433985 | 5 | 10414544:10414614:10415599:10415781:10417381:10417516 | 10415599:10415781 | ENSG00000145495.10 | ENST00000511802.1,ENST00000505253.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433995 | 5 | 10415710:10415781:10417381:10417516:10423846:10423936 | 10417381:10417516 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5,ENST00000512449.1 |
| exon_skip_434000 | 5 | 10417381:10417516:10423846:10423936:10426501:10426634 | 10423846:10423936 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_434006 | 5 | 10423846:10423936:10426501:10426634:10430004:10430140 | 10426501:10426634 | ENSG00000145495.10 | ENST00000511802.1,ENST00000449913.2,ENST00000510792.1,ENST00000503788.1,ENST00000274140.5 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for MARCH6 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433949 | 5 | 10378870:10378944:10381911:10382055:10387105:10387178 | 10381911:10382055 | ENSG00000145495.10 | ENST00000511802.1,ENST00000274140.5,ENST00000510872.1,ENST00000507863.1 |
| exon_skip_433952 | 5 | 10378870:10378944:10387105:10387178:10390443:10390603 | 10387105:10387178 | ENSG00000145495.10 | ENST00000449913.2 |
| exon_skip_433956 | 5 | 10381911:10382055:10387105:10387178:10390443:10390603 | 10387105:10387178 | ENSG00000145495.10 | ENST00000511802.1,ENST00000274140.5,ENST00000510872.1,ENST00000507863.1 |
| exon_skip_433959 | 5 | 10387105:10387178:10390443:10390612:10391653:10391686 | 10390443:10390612 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433961 | 5 | 10394864:10394897:10397404:10397456:10400895:10400954 | 10397404:10397456 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5 |
| exon_skip_433967 | 5 | 10402495:10402564:10402644:10402719:10403518:10403653 | 10402644:10402719 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1 |
| exon_skip_433972 | 5 | 10405669:10405789:10407213:10407314:10410250:10410388 | 10407213:10407314 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1 |
| exon_skip_433973 | 5 | 10410264:10410388:10411444:10411649:10414544:10414614 | 10411444:10411649 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1,ENST00000512449.1 |
| exon_skip_433982 | 5 | 10414544:10414614:10415584:10415781:10417381:10417516 | 10415584:10415781 | ENSG00000145495.10 | ENST00000512449.1 |
| exon_skip_433985 | 5 | 10414544:10414614:10415599:10415781:10417381:10417516 | 10415599:10415781 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1,ENST00000505253.1 |
| exon_skip_433995 | 5 | 10415710:10415781:10417381:10417516:10423846:10423936 | 10417381:10417516 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1,ENST00000512449.1 |
| exon_skip_434000 | 5 | 10417381:10417516:10423846:10423936:10426501:10426634 | 10423846:10423936 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1 |
| exon_skip_434006 | 5 | 10423846:10423936:10426501:10426634:10430004:10430140 | 10426501:10426634 | ENSG00000145495.10 | ENST00000449913.2,ENST00000511802.1,ENST00000503788.1,ENST00000274140.5,ENST00000510792.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MARCH6 |
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 |
Top |
Infer the effects of exon skipping event on protein functional features for MARCH6 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
![]() |
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 |
Top |
SNVs in the skipped exons for MARCH6 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_433973 | 10411445 | 10411649 | 10411480 | 10411480 | Frame_Shift_Del | A | - | p.E576fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_433973 | 10411445 | 10411649 | 10411496 | 10411496 | Frame_Shift_Del | A | - | p.A581fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_433985 exon_skip_433982 | 10415585 | 10415781 | 10415634 | 10415634 | Frame_Shift_Del | G | - | p.T667fs |
| STAD | TCGA-HU-A4GU-01 | 10415600 | 10415781 | 10415634 | 10415634 | Frame_Shift_Del | G | - | p.T667fs | |
| GBM | TCGA-14-0871-01 | exon_skip_434000 | 10423847 | 10423936 | 10423856 | 10423857 | Frame_Shift_Ins | - | T | p.L765fs |
| LUSC | TCGA-66-2795-01 | exon_skip_433949 | 10381912 | 10382055 | 10382034 | 10382034 | Nonsense_Mutation | G | T | p.G105* |
| CHOL | TCGA-W5-AA39-01 | exon_skip_433967 | 10402645 | 10402719 | 10402698 | 10402698 | Nonsense_Mutation | G | A | p.W392* |
| CHOL | TCGA-W5-AA39-01 | exon_skip_433967 | 10402645 | 10402719 | 10402698 | 10402698 | Nonsense_Mutation | G | A | p.W392X |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_433949 | 10381912 | 10382055 | 10382056 | 10382056 | Splice_Site | G | A | e4+1 |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_433949 | 10381912 | 10382055 | 10382056 | 10382056 | Splice_Site | G | A | p.C112_splice |
| LUAD | TCGA-05-4382-01 | exon_skip_434000 | 10423847 | 10423936 | 10423937 | 10423937 | Splice_Site | G | T | p.Q791_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 |
| VMRCLCD_LUNG | 10381912 | 10382055 | 10381959 | 10381959 | Missense_Mutation | G | T | p.A80S |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 10381912 | 10382055 | 10382005 | 10382005 | Missense_Mutation | A | T | p.H95L |
| CASKI_CERVIX | 10381912 | 10382055 | 10382046 | 10382046 | Missense_Mutation | C | T | p.L109F |
| REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10387106 | 10387178 | 10387108 | 10387108 | Missense_Mutation | C | T | p.R113C |
| SF172_CENTRAL_NERVOUS_SYSTEM | 10387106 | 10387178 | 10387136 | 10387136 | Missense_Mutation | C | A | p.S122Y |
| GP2D_LARGE_INTESTINE | 10390444 | 10390612 | 10390530 | 10390530 | Missense_Mutation | A | G | p.E165G |
| GP5D_LARGE_INTESTINE | 10390444 | 10390612 | 10390530 | 10390530 | Missense_Mutation | A | G | p.E165G |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10390444 | 10390612 | 10390596 | 10390596 | Missense_Mutation | G | A | p.G187E |
| NCIH1819_LUNG | 10411445 | 10411649 | 10411566 | 10411566 | Missense_Mutation | C | T | p.H605Y |
| MCC13_SKIN | 10411445 | 10411649 | 10411611 | 10411611 | Missense_Mutation | T | G | p.F620V |
| NCIH1944_LUNG | 10415600 | 10415781 | 10415605 | 10415605 | Missense_Mutation | G | A | p.A658T |
| NCIH1944_LUNG | 10415585 | 10415781 | 10415605 | 10415605 | Missense_Mutation | G | A | p.A658T |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10417382 | 10417516 | 10417416 | 10417416 | Missense_Mutation | C | T | p.A728V |
| LNCAPCLONEFGC_PROSTATE | 10417382 | 10417516 | 10417472 | 10417472 | Missense_Mutation | C | A | p.L747M |
| HCC1569_BREAST | 10417382 | 10417516 | 10417493 | 10417493 | Missense_Mutation | A | G | p.T754A |
| PACADD165_PANCREAS | 10423847 | 10423936 | 10423889 | 10423889 | Missense_Mutation | A | G | p.I776V |
| COLO201_LARGE_INTESTINE | 10426502 | 10426634 | 10426560 | 10426560 | Missense_Mutation | C | T | p.A811V |
| COLO205_LARGE_INTESTINE | 10426502 | 10426634 | 10426560 | 10426560 | Missense_Mutation | C | T | p.A811V |
| HCT15_LARGE_INTESTINE | 10426502 | 10426634 | 10426608 | 10426608 | Missense_Mutation | T | C | p.I827T |
| LNCAPCLONEFGC_PROSTATE | 10426502 | 10426634 | 10426623 | 10426623 | Missense_Mutation | T | C | p.V832A |
| PEO1_OVARY | 10415600 | 10415781 | 10415690 | 10415690 | Nonsense_Mutation | G | A | p.W686* |
| PEO1_OVARY | 10415585 | 10415781 | 10415690 | 10415690 | Nonsense_Mutation | G | A | p.W686* |
| COV644_OVARY | 10423847 | 10423936 | 10423874 | 10423874 | Nonsense_Mutation | A | T | p.K771* |
| OCUM1_STOMACH | 10390444 | 10390612 | 10390612 | 10390612 | Splice_Site | G | - | p.E192fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MARCH6 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MARCH6 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MARCH6 |
Top |
RelatedDrugs for MARCH6 |
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 |
Top |
RelatedDiseases for MARCH6 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |