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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 MROH8 |
Gene summary |
Gene information | Gene symbol | MROH8 | Gene ID | 140699 |
Gene name | maestro heat like repeat family member 8 | |
Synonyms | C20orf131|C20orf132|dJ621N11.3|dJ621N11.4 | |
Cytomap | 20q11.23 | |
Type of gene | protein-coding | |
Description | protein MROH8maestro heat-like repeat-containing protein family member 8 | |
Modification date | 20180519 | |
UniProtAcc | Q9H579 | |
Context | PubMed: MROH8 [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 MROH8 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 MROH8 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MROH8 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_356876 | 20 | 35729637:35729821:35731066:35731238:35737001:35737067 | 35731066:35731238 | ENSG00000101353.10 | ENST00000217333.8,ENST00000417458.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356877 | 20 | 35729637:35729821:35731066:35731282:35737001:35737067 | 35731066:35731282 | ENSG00000101353.10 | ENST00000466091.1 |
exon_skip_356880 | 20 | 35737001:35737067:35738658:35738758:35740726:35740849 | 35738658:35738758 | ENSG00000101353.10 | ENST00000217333.8,ENST00000417458.1,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356883 | 20 | 35743575:35743740:35748100:35748241:35748906:35749021 | 35748100:35748241 | ENSG00000101353.10 | ENST00000217333.8,ENST00000417458.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356884 | 20 | 35748100:35748241:35748906:35749021:35749301:35749439 | 35748906:35749021 | ENSG00000101353.10 | ENST00000217333.8,ENST00000417458.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356885 | 20 | 35752011:35752202:35757434:35757570:35766212:35766373 | 35757434:35757570 | ENSG00000101353.10 | ENST00000217333.8,ENST00000417458.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356891 | 20 | 35757434:35757570:35766212:35766373:35769564:35769717 | 35766212:35766373 | ENSG00000101353.10 | ENST00000400440.2,ENST00000421643.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356892 | 20 | 35757434:35757570:35766212:35766373:35772119:35772244 | 35766212:35766373 | ENSG00000101353.10 | ENST00000217333.8,ENST00000417458.1 |
exon_skip_356896 | 20 | 35766292:35766373:35769564:35769717:35772119:35772244 | 35769564:35769717 | ENSG00000101353.10 | ENST00000400440.2,ENST00000421643.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356897 | 20 | 35776176:35776312:35783465:35783570:35786262:35786347 | 35783465:35783570 | ENSG00000101353.10 | ENST00000400440.2,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
exon_skip_356900 | 20 | 35787403:35787439:35788499:35788579:35796523:35796646 | 35788499:35788579 | ENSG00000101353.10 | ENST00000400440.2,ENST00000217333.8,ENST00000421643.1,ENST00000434295.1,ENST00000441008.2,ENST00000343811.4,ENST00000422138.1,ENST00000400441.3 |
exon_skip_356901 | 20 | 35788499:35788579:35796523:35796646:35800314:35800460 | 35796523:35796646 | ENSG00000101353.10 | ENST00000400440.2,ENST00000217333.8,ENST00000421643.1,ENST00000434295.1,ENST00000441008.2,ENST00000343811.4,ENST00000422138.1,ENST00000400441.3 |
exon_skip_356904 | 20 | 35796523:35796646:35800314:35800460:35807625:35807741 | 35800314:35800460 | ENSG00000101353.10 | ENST00000434295.1 |
exon_skip_356905 | 20 | 35800314:35800460:35802397:35802519:35807201:35807369 | 35802397:35802519 | ENSG00000101353.10 | ENST00000422138.1 |
exon_skip_356906 | 20 | 35800314:35800460:35802397:35802519:35807625:35807741 | 35802397:35802519 | ENSG00000101353.10 | ENST00000400440.2,ENST00000421643.1,ENST00000441008.2,ENST00000343811.4,ENST00000400441.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MROH8 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_356876 | 20 | 35729637:35729821:35731066:35731238:35737001:35737067 | 35731066:35731238 | ENSG00000101353.10 | ENST00000417458.1,ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000217333.8 |
exon_skip_356877 | 20 | 35729637:35729821:35731066:35731282:35737001:35737067 | 35731066:35731282 | ENSG00000101353.10 | ENST00000466091.1 |
exon_skip_356880 | 20 | 35737001:35737067:35738658:35738758:35740726:35740849 | 35738658:35738758 | ENSG00000101353.10 | ENST00000417458.1,ENST00000343811.4,ENST00000400441.3,ENST00000217333.8 |
exon_skip_356881 | 20 | 35737001:35737067:35738658:35738759:35740726:35740849 | 35738658:35738759 | ENSG00000101353.10 | ENST00000441008.2 |
exon_skip_356883 | 20 | 35743575:35743740:35748100:35748241:35748906:35749021 | 35748100:35748241 | ENSG00000101353.10 | ENST00000417458.1,ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000217333.8 |
exon_skip_356884 | 20 | 35748100:35748241:35748906:35749021:35749301:35749439 | 35748906:35749021 | ENSG00000101353.10 | ENST00000417458.1,ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000217333.8 |
exon_skip_356885 | 20 | 35752011:35752202:35757434:35757570:35766212:35766373 | 35757434:35757570 | ENSG00000101353.10 | ENST00000417458.1,ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000217333.8 |
exon_skip_356891 | 20 | 35757434:35757570:35766212:35766373:35769564:35769717 | 35766212:35766373 | ENSG00000101353.10 | ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000400440.2,ENST00000421643.1 |
exon_skip_356892 | 20 | 35757434:35757570:35766212:35766373:35772119:35772244 | 35766212:35766373 | ENSG00000101353.10 | ENST00000417458.1,ENST00000217333.8 |
exon_skip_356896 | 20 | 35766292:35766373:35769564:35769717:35772119:35772244 | 35769564:35769717 | ENSG00000101353.10 | ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000400440.2,ENST00000421643.1 |
exon_skip_356897 | 20 | 35776176:35776312:35783465:35783570:35786262:35786347 | 35783465:35783570 | ENSG00000101353.10 | ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000400440.2 |
exon_skip_356900 | 20 | 35787403:35787439:35788499:35788579:35796523:35796646 | 35788499:35788579 | ENSG00000101353.10 | ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000217333.8,ENST00000400440.2,ENST00000421643.1,ENST00000434295.1,ENST00000422138.1 |
exon_skip_356901 | 20 | 35788499:35788579:35796523:35796646:35800314:35800460 | 35796523:35796646 | ENSG00000101353.10 | ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000217333.8,ENST00000400440.2,ENST00000421643.1,ENST00000434295.1,ENST00000422138.1 |
exon_skip_356904 | 20 | 35796523:35796646:35800314:35800460:35807625:35807741 | 35800314:35800460 | ENSG00000101353.10 | ENST00000434295.1 |
exon_skip_356905 | 20 | 35800314:35800460:35802397:35802519:35807201:35807369 | 35802397:35802519 | ENSG00000101353.10 | ENST00000422138.1 |
exon_skip_356906 | 20 | 35800314:35800460:35802397:35802519:35807625:35807741 | 35802397:35802519 | ENSG00000101353.10 | ENST00000343811.4,ENST00000441008.2,ENST00000400441.3,ENST00000400440.2,ENST00000421643.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MROH8 |
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 MROH8 |
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 |
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SNVs in the skipped exons for MROH8 |
- 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-DD-A1EG-01 | exon_skip_356883 | 35748101 | 35748241 | 35748132 | 35748132 | Frame_Shift_Del | C | - | p.G780fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_356883 | 35748101 | 35748241 | 35748209 | 35748209 | Frame_Shift_Del | G | - | p.P754fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_356884 | 35748907 | 35749021 | 35748913 | 35748913 | Frame_Shift_Del | A | - | p.F741fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_356884 | 35748907 | 35749021 | 35748949 | 35748949 | Frame_Shift_Del | C | - | p.G729fs |
LIHC | TCGA-DD-A3A1-01 | exon_skip_356884 | 35748907 | 35749021 | 35749008 | 35749008 | Frame_Shift_Del | T | - | p.R710fs |
LUAD | TCGA-49-6767-01 | exon_skip_356891 exon_skip_356892 | 35766213 | 35766373 | 35766357 | 35766357 | Frame_Shift_Del | C | - | p.G502fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_356896 | 35769565 | 35769717 | 35769587 | 35769587 | Frame_Shift_Del | T | - | p.N489fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_356896 | 35769565 | 35769717 | 35769587 | 35769587 | Frame_Shift_Del | T | - | p.N489fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_356901 | 35796524 | 35796646 | 35796598 | 35796598 | Frame_Shift_Del | G | - | p.Q192fs |
PAAD | TCGA-IB-7651-01 | exon_skip_356880 | 35738659 | 35738758 | 35738747 | 35738747 | Nonsense_Mutation | G | A | p.Q929* |
SKCM | TCGA-EE-A29E-06 | exon_skip_356880 | 35738659 | 35738758 | 35738759 | 35738759 | 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 |
COLO684_ENDOMETRIUM | 35748907 | 35749021 | 35748913 | 35748913 | Frame_Shift_Del | A | - | p.F741fs |
NCIH2066_LUNG | 35769565 | 35769717 | 35769667 | 35769667 | Frame_Shift_Del | A | - | p.T463fs |
NCIH378_LUNG | 35783466 | 35783570 | 35783537 | 35783537 | Frame_Shift_Del | G | - | p.H335fs |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35802398 | 35802519 | 35802410 | 35802410 | Frame_Shift_Del | T | - | p.I123fs |
KMRC20_KIDNEY | 35748101 | 35748241 | 35748160 | 35748161 | Frame_Shift_Ins | - | A | p.H771fs |
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35748907 | 35749021 | 35748912 | 35748913 | Frame_Shift_Ins | - | A | p.V742fs |
SNU407_LARGE_INTESTINE | 35802398 | 35802519 | 35802422 | 35802423 | Frame_Shift_Ins | - | T | p.G119fs |
SNU1_STOMACH | 35769565 | 35769717 | 35769612 | 35769614 | In_Frame_Del | CTC | - | p.G480del |
SNU668_STOMACH | 35731067 | 35731238 | 35731116 | 35731116 | Missense_Mutation | T | G | p.K1035Q |
SNU668_STOMACH | 35731067 | 35731282 | 35731116 | 35731116 | Missense_Mutation | T | G | p.K1035Q |
TCYIK_CERVIX | 35731067 | 35731238 | 35731116 | 35731116 | Missense_Mutation | T | G | p.K1035Q |
TCYIK_CERVIX | 35731067 | 35731282 | 35731116 | 35731116 | Missense_Mutation | T | G | p.K1035Q |
SNU81_LARGE_INTESTINE | 35731067 | 35731238 | 35731149 | 35731149 | Missense_Mutation | G | A | p.P1024S |
SNU81_LARGE_INTESTINE | 35731067 | 35731282 | 35731149 | 35731149 | Missense_Mutation | G | A | p.P1024S |
HCT15_LARGE_INTESTINE | 35731067 | 35731238 | 35731190 | 35731190 | Missense_Mutation | G | A | p.A1010V |
HCT15_LARGE_INTESTINE | 35731067 | 35731282 | 35731190 | 35731190 | Missense_Mutation | G | A | p.A1010V |
RCCER_KIDNEY | 35748101 | 35748241 | 35748108 | 35748108 | Missense_Mutation | T | A | p.Q788L |
MCC26_SKIN | 35748101 | 35748241 | 35748150 | 35748150 | Missense_Mutation | C | T | p.R774K |
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35748101 | 35748241 | 35748192 | 35748192 | Missense_Mutation | G | T | p.A760D |
HCC1569_BREAST | 35748101 | 35748241 | 35748201 | 35748201 | Missense_Mutation | T | C | p.Y757C |
MFE319_ENDOMETRIUM | 35748101 | 35748241 | 35748205 | 35748205 | Missense_Mutation | T | C | p.I756V |
HEC108_ENDOMETRIUM | 35748101 | 35748241 | 35748223 | 35748223 | Missense_Mutation | C | A | p.A750S |
2313287_STOMACH | 35748101 | 35748241 | 35748223 | 35748223 | Missense_Mutation | C | A | p.A750S |
PL18_PANCREAS | 35748907 | 35749021 | 35749005 | 35749005 | Missense_Mutation | T | G | p.N711H |
HCC2998_LARGE_INTESTINE | 35748907 | 35749021 | 35749007 | 35749007 | Missense_Mutation | C | A | p.R710I |
SNU886_LIVER | 35757435 | 35757570 | 35757460 | 35757460 | Missense_Mutation | T | C | p.E587G |
KMBC2_URINARY_TRACT | 35757435 | 35757570 | 35757473 | 35757473 | Missense_Mutation | C | T | p.E583K |
NCIH1092_LUNG | 35757435 | 35757570 | 35757511 | 35757511 | Missense_Mutation | A | G | p.L570P |
SNU761_LIVER | 35766213 | 35766373 | 35766222 | 35766222 | Missense_Mutation | G | A | p.P547L |
SKRC20_KIDNEY | 35766213 | 35766373 | 35766270 | 35766270 | Missense_Mutation | G | T | p.P531H |
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35766213 | 35766373 | 35766294 | 35766294 | Missense_Mutation | G | C | p.T523S |
WM1799_SKIN | 35783466 | 35783570 | 35783474 | 35783474 | Missense_Mutation | T | C | p.N356D |
SNU324_PANCREAS | 35783466 | 35783570 | 35783525 | 35783525 | Missense_Mutation | G | A | p.R339W |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35783466 | 35783570 | 35783525 | 35783525 | Missense_Mutation | G | A | p.R339W |
SARC9371_BONE | 35783466 | 35783570 | 35783550 | 35783550 | Missense_Mutation | C | A | p.Q330H |
SNU1040_LARGE_INTESTINE | 35788500 | 35788579 | 35788546 | 35788546 | Missense_Mutation | A | C | p.S228A |
EN_ENDOMETRIUM | 35796524 | 35796646 | 35796555 | 35796555 | Missense_Mutation | C | A | p.S206I |
LOUNH91_LUNG | 35800315 | 35800460 | 35800362 | 35800362 | Missense_Mutation | C | G | p.E160Q |
NB1_AUTONOMIC_GANGLIA | 35800315 | 35800460 | 35800422 | 35800422 | Missense_Mutation | G | T | p.P140T |
KYAE1_OESOPHAGUS | 35800315 | 35800460 | 35800431 | 35800431 | Missense_Mutation | G | T | p.H137N |
HCC515_LUNG | 35731067 | 35731238 | 35731167 | 35731167 | Nonsense_Mutation | G | A | p.Q1018* |
HCC515_LUNG | 35731067 | 35731282 | 35731167 | 35731167 | Nonsense_Mutation | G | A | p.Q1018* |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35788500 | 35788579 | 35788570 | 35788570 | Nonsense_Mutation | G | A | p.Q220* |
NCIH3122_LUNG | 35748907 | 35749021 | 35749020 | 35749020 | Splice_Site | C | T | p.A706T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MROH8 |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MROH8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MROH8 |
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RelatedDrugs for MROH8 |
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 MROH8 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |