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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 MACROD2 |
 Gene summary |
| Gene information | Gene symbol | MACROD2 | Gene ID | 140733 |
| Gene name | MACRO domain containing 2 | |
| Synonyms | C20orf133|C2orf133 | |
| Cytomap | 20p12.1 | |
| Type of gene | protein-coding | |
| Description | O-acetyl-ADP-ribose deacetylase MACROD2MACRO domain-containing protein 2[Protein ADP-ribosylglutamate] hydrolase | |
| Modification date | 20180519 | |
| UniProtAcc | A1Z1Q3 | |
| Context | PubMed: MACROD2 [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 |
| MACROD2 | GO:0042278 | purine nucleoside metabolic process | 21257746 |
| MACROD2 | GO:0051725 | protein de-ADP-ribosylation | 23474712 |
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Exon skipping events across known transcript of Ensembl for MACROD2 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 MACROD2 |
| 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 MACROD2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349231 | 20 | 13982933:13983050:14032567:14032666:14033744:14034325 | 14032567:14032666 | ENSG00000172264.12 | ENST00000483997.1 |
| exon_skip_349232 | 20 | 13982933:13983050:14066266:14066374:14474124:14474154 | 14066266:14066374 | ENSG00000172264.12 | ENST00000477147.1,ENST00000494602.1,ENST00000490428.1,ENST00000217246.4,ENST00000310348.4 |
| exon_skip_349234 | 20 | 15210585:15210707:15412049:15412080:15480418:15480492 | 15412049:15412080 | ENSG00000172264.12 | ENST00000217246.4,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349235 | 20 | 15480418:15480492:15843389:15843471:15866408:15866456 | 15843389:15843471 | ENSG00000172264.12 | ENST00000217246.4,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349236 | 20 | 15843449:15843471:15866408:15866456:15913920:15913983 | 15866408:15866456 | ENSG00000172264.12 | ENST00000217246.4,ENST00000378058.3,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349238 | 20 | 15918120:15918189:15948197:15948275:15967371:15967446 | 15948197:15948275 | ENSG00000172264.12 | ENST00000217246.4,ENST00000378058.3,ENST00000486914.1,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349241 | 20 | 15967710:15967803:16021845:16021923:16030474:16030521 | 16021845:16021923 | ENSG00000172264.12 | ENST00000217246.4 |
| exon_skip_349242 | 20 | 16021845:16021923:16025215:16025284:16030474:16030521 | 16025215:16025284 | ENSG00000172264.12 | ENST00000378058.3,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349243 | 20 | 16021845:16021923:16025215:16025284:16030477:16030714 | 16025215:16025284 | ENSG00000172264.12 | ENST00000407045.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MACROD2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349231 | 20 | 13982933:13983050:14032567:14032666:14033744:14034325 | 14032567:14032666 | ENSG00000172264.12 | ENST00000483997.1 |
| exon_skip_349232 | 20 | 13982933:13983050:14066266:14066374:14474124:14474154 | 14066266:14066374 | ENSG00000172264.12 | ENST00000217246.4,ENST00000477147.1,ENST00000494602.1,ENST00000310348.4,ENST00000490428.1 |
| exon_skip_349233 | 20 | 14665488:14665605:14830549:14830649:14868788:14869314 | 14830549:14830649 | ENSG00000172264.12 | ENST00000463861.1 |
| exon_skip_349234 | 20 | 15210585:15210707:15412049:15412080:15480418:15480492 | 15412049:15412080 | ENSG00000172264.12 | ENST00000217246.4,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349235 | 20 | 15480418:15480492:15843389:15843471:15866408:15866456 | 15843389:15843471 | ENSG00000172264.12 | ENST00000217246.4,ENST00000310348.4,ENST00000402914.1 |
| exon_skip_349236 | 20 | 15843449:15843471:15866408:15866456:15913920:15913983 | 15866408:15866456 | ENSG00000172264.12 | ENST00000217246.4,ENST00000310348.4,ENST00000402914.1,ENST00000378058.3 |
| exon_skip_349238 | 20 | 15918120:15918189:15948197:15948275:15967371:15967446 | 15948197:15948275 | ENSG00000172264.12 | ENST00000217246.4,ENST00000310348.4,ENST00000402914.1,ENST00000378058.3,ENST00000486914.1 |
| exon_skip_349242 | 20 | 16021845:16021923:16025215:16025284:16030474:16030521 | 16025215:16025284 | ENSG00000172264.12 | ENST00000310348.4,ENST00000402914.1,ENST00000378058.3 |
| exon_skip_349243 | 20 | 16021845:16021923:16025215:16025284:16030477:16030714 | 16025215:16025284 | ENSG00000172264.12 | ENST00000407045.3 |
| 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 MACROD2 |
| 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 MACROD2 |
| 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 MACROD2 |
| - 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-A1EG-01 | exon_skip_349232 | 14066267 | 14066374 | 14066312 | 14066312 | Frame_Shift_Del | A | - | p.E70fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_349232 | 14066267 | 14066374 | 14066312 | 14066312 | Frame_Shift_Del | A | - | p.E70fs |
| LUAD | TCGA-44-2668-01 | exon_skip_349232 | 14066267 | 14066374 | 14066278 | 14066278 | Nonsense_Mutation | C | T | p.Q59* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_349232 | 14066267 | 14066374 | 14066290 | 14066290 | Nonsense_Mutation | C | T | p.Q63* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_349232 | 14066267 | 14066374 | 14066290 | 14066290 | Nonsense_Mutation | C | T | p.Q63X |
| STAD | TCGA-D7-6528-01 | exon_skip_349236 | 15866409 | 15866456 | 15866408 | 15866408 | Splice_Site | G | C | . |
| STAD | TCGA-D7-6528-01 | exon_skip_349236 | 15866409 | 15866456 | 15866408 | 15866408 | Splice_Site | G | C | p.D243_splice |
| UCEC | TCGA-AP-A051-01 | exon_skip_349236 | 15866409 | 15866456 | 15866408 | 15866408 | Splice_Site | G | T | e10-1 |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_349236 | 15866409 | 15866456 | 15866408 | 15866408 | Splice_Site | G | A | e10-1 |
| KICH | TCGA-KN-8428-01 | exon_skip_349241 | 16021846 | 16021923 | 16021924 | 16021924 | Splice_Site | G | A | . |
| KICH | TCGA-KN-8428-01 | exon_skip_349241 | 16021846 | 16021923 | 16021924 | 16021924 | Splice_Site | G | A | p.V411_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 |
| HDQP1_BREAST | 14066267 | 14066374 | 14066303 | 14066303 | Frame_Shift_Del | G | - | p.S67fs |
| SUM149PT_BREAST | 15948198 | 15948275 | 15948207 | 15948212 | In_Frame_Del | AGGATG | - | p.DE307del |
| C75_LARGE_INTESTINE | 14066267 | 14066374 | 14066271 | 14066271 | Missense_Mutation | A | C | p.E56D |
| SW948_LARGE_INTESTINE | 14066267 | 14066374 | 14066309 | 14066309 | Missense_Mutation | C | G | p.T69S |
| MERO83_LUNG | 15412050 | 15412080 | 15412055 | 15412055 | Missense_Mutation | T | A | p.F182L |
| MEWO_SKIN | 15412050 | 15412080 | 15412057 | 15412057 | Missense_Mutation | C | T | p.P183L |
| SW1271_LUNG | 15843390 | 15843471 | 15843418 | 15843418 | Missense_Mutation | T | C | p.L225S |
| YD8_UPPER_AERODIGESTIVE_TRACT | 15843390 | 15843471 | 15843419 | 15843419 | Missense_Mutation | A | T | p.L225F |
| MDAMB415_BREAST | 15948198 | 15948275 | 15948257 | 15948257 | Missense_Mutation | G | A | p.D323N |
| HEC251_ENDOMETRIUM | 16021846 | 16021923 | 16021905 | 16021905 | Missense_Mutation | A | C | p.N405H |
| KP3_PANCREAS | 16025216 | 16025284 | 16025223 | 16025223 | Missense_Mutation | G | T | p.M413I |
| MDAMB330_BREAST | 16025216 | 16025284 | 16025231 | 16025231 | Missense_Mutation | A | T | p.Q416L |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14066267 | 14066374 | 14066374 | 14066374 | Splice_Site | G | A | p.A91T |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 15866409 | 15866456 | 15866410 | 15866410 | Splice_Site | C | T | p.D243D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MACROD2 |
| 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 MACROD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MACROD2 |
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RelatedDrugs for MACROD2 |
| 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 MACROD2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MACROD2 | C0004352 | Autistic Disorder | 1 | CTD_human |
| MACROD2 | C0023903 | Liver neoplasms | 1 | CTD_human |
| MACROD2 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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