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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 A2M |
 Gene summary |
| Gene information | Gene symbol | A2M | Gene ID | 2 |
| Gene name | alpha-2-macroglobulin | |
| Synonyms | A2MD|CPAMD5|FWP007|S863-7 | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | alpha-2-macroglobulinC3 and PZP-like alpha-2-macroglobulin domain-containing protein 5alpha-2-M | |
| Modification date | 20180519 | |
| UniProtAcc | P01023 | |
| Context | PubMed: A2M [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 |
| A2M | GO:0001869 | negative regulation of complement activation, lectin pathway | 12538697 |
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Exon skipping events across known transcript of Ensembl for A2M 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 A2M |
| 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 A2M |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89907 | 12 | 9220307:9220435:9220778:9220820:9221335:9221438 | 9220778:9220820 | ENSG00000175899.10 | ENST00000495709.1,ENST00000318602.7 |
| exon_skip_89911 | 12 | 9223083:9223174:9224954:9225082:9225248:9225317 | 9224954:9225082 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89917 | 12 | 9229941:9230016:9230296:9230453:9231839:9231927 | 9230296:9230453 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89922 | 12 | 9231839:9231927:9232234:9232411:9232689:9232773 | 9232234:9232411 | ENSG00000175899.10 | ENST00000542567.1,ENST00000318602.7 |
| exon_skip_89923 | 12 | 9232689:9232773:9241795:9241847:9242497:9242619 | 9241795:9241847 | ENSG00000175899.10 | ENST00000462568.1,ENST00000318602.7 |
| exon_skip_89927 | 12 | 9251202:9251352:9251976:9252119:9253739:9253803 | 9251976:9252119 | ENSG00000175899.10 | ENST00000318602.7,ENST00000472360.1 |
| exon_skip_89928 | 12 | 9253739:9253803:9254042:9254270:9256834:9256996 | 9254042:9254270 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89931 | 12 | 9254145:9254270:9256834:9256996:9258831:9258892 | 9256834:9256996 | ENSG00000175899.10 | ENST00000545828.1,ENST00000318602.7 |
| exon_skip_89933 | 12 | 9260119:9260240:9261916:9262001:9262462:9262631 | 9261916:9262001 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89934 | 12 | 9262462:9262631:9262909:9262930:9264754:9264807 | 9262909:9262930 | ENSG00000175899.10 | ENST00000539638.1,ENST00000318602.7 |
| exon_skip_89935 | 12 | 9262909:9262930:9264754:9264807:9265955:9266139 | 9264754:9264807 | ENSG00000175899.10 | ENST00000539638.1 |
| exon_skip_89938 | 12 | 9264754:9264807:9264972:9265132:9265955:9266135 | 9264972:9265132 | ENSG00000175899.10 | ENST00000318602.7,ENST00000404455.2 |
| exon_skip_89948 | 12 | 9265955:9266139:9268359:9268462:9268723:9268825 | 9268359:9268462 | ENSG00000175899.10 | ENST00000404455.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for A2M |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89907 | 12 | 9220307:9220435:9220778:9220820:9221335:9221438 | 9220778:9220820 | ENSG00000175899.10 | ENST00000495709.1,ENST00000318602.7 |
| exon_skip_89911 | 12 | 9223083:9223174:9224954:9225082:9225248:9225317 | 9224954:9225082 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89917 | 12 | 9229941:9230016:9230296:9230453:9231839:9231927 | 9230296:9230453 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89922 | 12 | 9231839:9231927:9232234:9232411:9232689:9232773 | 9232234:9232411 | ENSG00000175899.10 | ENST00000318602.7,ENST00000542567.1 |
| exon_skip_89923 | 12 | 9232689:9232773:9241795:9241847:9242497:9242619 | 9241795:9241847 | ENSG00000175899.10 | ENST00000318602.7,ENST00000462568.1 |
| exon_skip_89927 | 12 | 9251202:9251352:9251976:9252119:9253739:9253803 | 9251976:9252119 | ENSG00000175899.10 | ENST00000318602.7,ENST00000472360.1 |
| exon_skip_89928 | 12 | 9253739:9253803:9254042:9254270:9256834:9256996 | 9254042:9254270 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89931 | 12 | 9254145:9254270:9256834:9256996:9258831:9258892 | 9256834:9256996 | ENSG00000175899.10 | ENST00000318602.7,ENST00000545828.1 |
| exon_skip_89933 | 12 | 9260119:9260240:9261916:9262001:9262462:9262631 | 9261916:9262001 | ENSG00000175899.10 | ENST00000318602.7 |
| exon_skip_89934 | 12 | 9262462:9262631:9262909:9262930:9264754:9264807 | 9262909:9262930 | ENSG00000175899.10 | ENST00000318602.7,ENST00000539638.1 |
| exon_skip_89935 | 12 | 9262909:9262930:9264754:9264807:9265955:9266139 | 9264754:9264807 | ENSG00000175899.10 | ENST00000539638.1 |
| exon_skip_89938 | 12 | 9264754:9264807:9264972:9265132:9265955:9266135 | 9264972:9265132 | ENSG00000175899.10 | ENST00000318602.7,ENST00000404455.2 |
| exon_skip_89948 | 12 | 9265955:9266139:9268359:9268462:9268723:9268825 | 9268359:9268462 | ENSG00000175899.10 | ENST00000404455.2 |
| 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 A2M |
| 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 |
| ENST00000318602 | 9224954 | 9225082 | Frame-shift |
| ENST00000318602 | 9230296 | 9230453 | Frame-shift |
| ENST00000318602 | 9241795 | 9241847 | Frame-shift |
| ENST00000318602 | 9251976 | 9252119 | Frame-shift |
| ENST00000318602 | 9261916 | 9262001 | Frame-shift |
| ENST00000318602 | 9264972 | 9265132 | Frame-shift |
| ENST00000318602 | 9220778 | 9220820 | In-frame |
| ENST00000318602 | 9232234 | 9232411 | In-frame |
| ENST00000318602 | 9254042 | 9254270 | In-frame |
| ENST00000318602 | 9256834 | 9256996 | In-frame |
| ENST00000318602 | 9262909 | 9262930 | 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 |
| ENST00000318602 | 9224954 | 9225082 | Frame-shift |
| ENST00000318602 | 9230296 | 9230453 | Frame-shift |
| ENST00000318602 | 9241795 | 9241847 | Frame-shift |
| ENST00000318602 | 9251976 | 9252119 | Frame-shift |
| ENST00000318602 | 9261916 | 9262001 | Frame-shift |
| ENST00000318602 | 9264972 | 9265132 | Frame-shift |
| ENST00000318602 | 9220778 | 9220820 | In-frame |
| ENST00000318602 | 9232234 | 9232411 | In-frame |
| ENST00000318602 | 9254042 | 9254270 | In-frame |
| ENST00000318602 | 9256834 | 9256996 | In-frame |
| ENST00000318602 | 9262909 | 9262930 | In-frame |
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Infer the effects of exon skipping event on protein functional features for A2M |
| 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 |
| ENST00000318602 | 4861 | 1474 | 9256834 | 9256996 | 1413 | 1574 | 368 | 422 |
| ENST00000318602 | 4861 | 1474 | 9254042 | 9254270 | 1575 | 1802 | 422 | 498 |
| ENST00000318602 | 4861 | 1474 | 9232234 | 9232411 | 3163 | 3339 | 951 | 1010 |
| ENST00000318602 | 4861 | 1474 | 9220778 | 9220820 | 4675 | 4716 | 1455 | 1469 |
| 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 |
| ENST00000318602 | 4861 | 1474 | 9256834 | 9256996 | 1413 | 1574 | 368 | 422 |
| ENST00000318602 | 4861 | 1474 | 9254042 | 9254270 | 1575 | 1802 | 422 | 498 |
| ENST00000318602 | 4861 | 1474 | 9232234 | 9232411 | 3163 | 3339 | 951 | 1010 |
| ENST00000318602 | 4861 | 1474 | 9220778 | 9220820 | 4675 | 4716 | 1455 | 1469 |
| 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 |
| P01023 | 368 | 422 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 368 | 422 | 396 | 396 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:6203908;Dbxref=PMID:16335952,PMID:19159218,PMID:6203908 |
| P01023 | 368 | 422 | 410 | 410 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:6203908;Dbxref=PMID:16335952,PMID:6203908 |
| P01023 | 422 | 498 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 422 | 498 | 431 | 431 | Disulfide bond | Note=Interchain (with C-278);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2430963;Dbxref=PMID:2430963 |
| P01023 | 422 | 498 | 470 | 563 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2430963;Dbxref=PMID:2430963 |
| P01023 | 951 | 1010 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 951 | 1010 | 972 | 975 | Cross-link | Note=Isoglutamyl cysteine thioester (Cys-Gln);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 951 | 1010 | 921 | 1321 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 951 | 1010 | 991 | 991 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:6203908;Dbxref=PMID:12754519,PMID:16335952,P |
| P01023 | 951 | 1010 | 972 | 972 | Natural variant | ID=VAR_000013;Note=Probably interferes with the activity. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1370808;Dbxref=dbSNP:rs1800433,PMID:1370808 |
| P01023 | 951 | 1010 | 1000 | 1000 | Natural variant | ID=VAR_000014;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15611997,ECO:0000269|PubMed:1707161,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:2581245;Dbxref=dbS |
| P01023 | 1455 | 1469 | 1454 | 1456 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BV8 |
| P01023 | 1455 | 1469 | 1459 | 1463 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BV8 |
| P01023 | 1455 | 1469 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 1455 | 1469 | 1352 | 1467 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| 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 |
| P01023 | 368 | 422 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 368 | 422 | 396 | 396 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:6203908;Dbxref=PMID:16335952,PMID:19159218,PMID:6203908 |
| P01023 | 368 | 422 | 410 | 410 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:6203908;Dbxref=PMID:16335952,PMID:6203908 |
| P01023 | 422 | 498 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 422 | 498 | 431 | 431 | Disulfide bond | Note=Interchain (with C-278);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2430963;Dbxref=PMID:2430963 |
| P01023 | 422 | 498 | 470 | 563 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2430963;Dbxref=PMID:2430963 |
| P01023 | 951 | 1010 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 951 | 1010 | 972 | 975 | Cross-link | Note=Isoglutamyl cysteine thioester (Cys-Gln);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 951 | 1010 | 921 | 1321 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 951 | 1010 | 991 | 991 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:6203908;Dbxref=PMID:12754519,PMID:16335952,P |
| P01023 | 951 | 1010 | 972 | 972 | Natural variant | ID=VAR_000013;Note=Probably interferes with the activity. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1370808;Dbxref=dbSNP:rs1800433,PMID:1370808 |
| P01023 | 951 | 1010 | 1000 | 1000 | Natural variant | ID=VAR_000014;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15611997,ECO:0000269|PubMed:1707161,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:2581245;Dbxref=dbS |
| P01023 | 1455 | 1469 | 1454 | 1456 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BV8 |
| P01023 | 1455 | 1469 | 1459 | 1463 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BV8 |
| P01023 | 1455 | 1469 | 24 | 1474 | Chain | ID=PRO_0000000055;Note=Alpha-2-macroglobulin;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
| P01023 | 1455 | 1469 | 1352 | 1467 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6203908;Dbxref=PMID:6203908 |
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SNVs in the skipped exons for A2M |
| - 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 |
| COAD | TCGA-G4-6299-01 | exon_skip_89922 | 9232235 | 9232411 | 9232268 | 9232269 | Frame_Shift_Del | TC | - | p.1000_1000del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_89927 | 9251977 | 9252119 | 9252018 | 9252018 | Frame_Shift_Del | C | - | p.D554fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_89927 | 9251977 | 9252119 | 9252105 | 9252105 | Frame_Shift_Del | A | - | p.S525fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_89938 | 9264973 | 9265132 | 9264980 | 9264980 | Frame_Shift_Del | C | - | p.G141fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_89948 | 9268360 | 9268462 | 9268362 | 9268362 | Frame_Shift_Del | T | - | p.K28fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_89948 | 9268360 | 9268462 | 9268425 | 9268425 | Frame_Shift_Del | A | - | p.L7fs |
| SKCM | TCGA-EE-A181-06 | exon_skip_89917 | 9230297 | 9230453 | 9230416 | 9230416 | Nonsense_Mutation | G | A | p.R1053* |
| BLCA | TCGA-XF-A9T6-01 | exon_skip_89922 | 9232235 | 9232411 | 9232356 | 9232356 | Nonsense_Mutation | A | C | p.Y970* |
| BRCA | TCGA-BH-A1FN-01 | exon_skip_89928 | 9254043 | 9254270 | 9254262 | 9254262 | Nonsense_Mutation | G | T | p.Y425* |
| LUAD | TCGA-91-6848-01 | exon_skip_89935 | 9264755 | 9264807 | 9264760 | 9264760 | Nonsense_Mutation | C | A | p.E160* |
| CHOL | TCGA-W5-AA39-01 | exon_skip_89938 | 9264973 | 9265132 | 9264989 | 9264989 | Nonsense_Mutation | G | T | p.Y138* |
| STAD | TCGA-D7-8575-01 | exon_skip_89938 | 9264973 | 9265132 | 9264996 | 9264996 | Nonsense_Mutation | G | T | p.S136* |
| STAD | TCGA-D7-8575-01 | exon_skip_89938 | 9264973 | 9265132 | 9264996 | 9264996 | Nonsense_Mutation | G | T | p.S136X |
| SKCM | TCGA-D3-A3C8-06 | exon_skip_89938 | 9264973 | 9265132 | 9265009 | 9265009 | Nonsense_Mutation | G | A | p.Q132* |
| UCEC | TCGA-AP-A056-01 | exon_skip_89938 | 9264973 | 9265132 | 9265066 | 9265066 | Nonsense_Mutation | C | A | p.E113* |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 9220779 | 9220820 | 9220799 | 9220799 | Missense_Mutation | T | C | p.Y1463C |
| CORL23_LUNG | 9220779 | 9220820 | 9220818 | 9220818 | Missense_Mutation | C | G | p.E1457Q |
| TMK1_STOMACH | 9224955 | 9225082 | 9224995 | 9224995 | Missense_Mutation | G | T | p.P1355T |
| NCIH1666_LUNG | 9224955 | 9225082 | 9225031 | 9225031 | Missense_Mutation | A | C | p.L1343V |
| FUOV1_OVARY | 9224955 | 9225082 | 9225051 | 9225051 | Missense_Mutation | T | G | p.K1336T |
| NCIH187_LUNG | 9224955 | 9225082 | 9225074 | 9225074 | Missense_Mutation | C | G | p.L1328F |
| NCIH1869_LUNG | 9230297 | 9230453 | 9230325 | 9230325 | Missense_Mutation | G | C | p.S1083C |
| SNU1040_LARGE_INTESTINE | 9230297 | 9230453 | 9230340 | 9230340 | Missense_Mutation | C | T | p.G1078D |
| PK59_PANCREAS | 9230297 | 9230453 | 9230385 | 9230385 | Missense_Mutation | A | T | p.I1063N |
| CAL72_BONE | 9230297 | 9230453 | 9230389 | 9230389 | Missense_Mutation | G | T | p.H1062N |
| SNU1040_LARGE_INTESTINE | 9230297 | 9230453 | 9230418 | 9230418 | Missense_Mutation | G | A | p.A1052V |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9232235 | 9232411 | 9232285 | 9232285 | Missense_Mutation | T | A | p.Q994L |
| EBC1_LUNG | 9232235 | 9232411 | 9232322 | 9232322 | Missense_Mutation | G | A | p.P982S |
| K2_SKIN | 9254043 | 9254270 | 9254056 | 9254056 | Missense_Mutation | G | A | p.S494F |
| MDAMB436_BREAST | 9254043 | 9254270 | 9254161 | 9254161 | Missense_Mutation | A | G | p.V459A |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9256835 | 9256996 | 9256870 | 9256870 | Missense_Mutation | T | G | p.T411P |
| DV90_LUNG | 9256835 | 9256996 | 9256884 | 9256884 | Missense_Mutation | T | G | p.Q406P |
| RH30_SOFT_TISSUE | 9256835 | 9256996 | 9256963 | 9256963 | Missense_Mutation | G | A | p.P380S |
| SJRH30_SOFT_TISSUE | 9256835 | 9256996 | 9256963 | 9256963 | Missense_Mutation | G | A | p.P380S |
| HCC1599_BREAST | 9261917 | 9262001 | 9261953 | 9261953 | Missense_Mutation | A | T | p.I241N |
| HCC1599_MATCHED_NORMAL_TISSUE | 9261917 | 9262001 | 9261953 | 9261953 | Missense_Mutation | A | T | p.I241N |
| NCIH1435_LUNG | 9264973 | 9265132 | 9265027 | 9265027 | Missense_Mutation | C | A | p.D126Y |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9264973 | 9265132 | 9265083 | 9265083 | Missense_Mutation | A | G | p.V107A |
| HCC15_LUNG | 9264973 | 9265132 | 9265116 | 9265116 | Missense_Mutation | G | C | p.S96C |
| CALU1_LUNG | 9264973 | 9265132 | 9264996 | 9264996 | Nonsense_Mutation | G | T | p.S136* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for A2M |
| 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_89922 | 12 | 9231839:9231927:9232234:9232411:9232689:9232773 | 9232234:9232411 | ENST00000542567.1,ENST00000318602.7 | LGG | rs669 | chr12:9232268 | T/C | 1.13e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for A2M |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for A2M |
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RelatedDrugs for A2M |
| 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 |
| P01023 | DB00515 | Cisplatin | Alpha-2-macroglobulin | small molecule | approved | |
| P01023 | DB08888 | Ocriplasmin | Alpha-2-macroglobulin | biotech | approved | |
| P01023 | DB00102 | Becaplermin | Alpha-2-macroglobulin | biotech | approved|investigational | |
| P01023 | DB01593 | Zinc | Alpha-2-macroglobulin | small molecule | approved|investigational | |
| P01023 | DB12965 | Silver | Alpha-2-macroglobulin | small molecule | approved|investigational | |
| P01023 | DB14487 | Zinc acetate | Alpha-2-macroglobulin | small molecule | approved|investigational | |
| P01023 | DB14533 | Zinc chloride | Alpha-2-macroglobulin | small molecule | approved|investigational | |
| P01023 | DB00626 | Bacitracin | Alpha-2-macroglobulin | small molecule | approved|vet_approved |
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RelatedDiseases for A2M |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| A2M | C0002395 | Alzheimer's Disease | 3 | CTD_human |
| A2M | C0011570 | Mental Depression | 2 | PSYGENET |
| A2M | C0011581 | Depressive disorder | 2 | PSYGENET |
| A2M | C0024121 | Lung Neoplasms | 2 | CTD_human |
| A2M | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| A2M | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
| A2M | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| A2M | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| A2M | C0024115 | Lung diseases | 1 | CTD_human |
| A2M | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| A2M | C0206669 | Hepatocellular Adenoma | 1 | CTD_human |
| A2M | C2239176 | Liver carcinoma | 1 | CTD_human |
| A2M | C2609414 | Acute kidney injury | 1 | CTD_human |
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