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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 F13A1 |
 Gene summary |
| Gene information | Gene symbol | F13A1 | Gene ID | 2162 |
| Gene name | coagulation factor XIII A chain | |
| Synonyms | F13A | |
| Cytomap | 6p25.1 | |
| Type of gene | protein-coding | |
| Description | coagulation factor XIII A chainFSF, A subunitTGasebA525O21.1 (coagulation factor XIII, A1 polypeptide)coagulation factor XIII, A polypeptidecoagulation factor XIII, A1 polypeptidecoagulation factor XIIIafactor XIIIafibrin stabilizing factor, A sub | |
| Modification date | 20180519 | |
| UniProtAcc | P00488 | |
| Context | PubMed: F13A1 [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 |
| F13A1 | GO:0018149 | peptide cross-linking | 27363989 |
| F13A1 | GO:0072378 | blood coagulation, fibrin clot formation | 27363989 |
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Exon skipping events across known transcript of Ensembl for F13A1 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 F13A1 |
| 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 F13A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455992 | 6 | 6144317:6146005:6152045:6152182:6167690:6167851 | 6152045:6152182 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455993 | 6 | 6167690:6167851:6174812:6175100:6182220:6182374 | 6174812:6175100 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455994 | 6 | 6174812:6175100:6182220:6182374:6196029:6196118 | 6182220:6182374 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455996 | 6 | 6248544:6248652:6251043:6251162:6266790:6267042 | 6251043:6251162 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455997 | 6 | 6251139:6251162:6266790:6267042:6305583:6305772 | 6266790:6267042 | ENSG00000124491.11 | ENST00000264870.3,ENST00000479211.1 |
| exon_skip_455998 | 6 | 6266966:6267042:6305583:6305772:6318767:6318915 | 6305583:6305772 | ENSG00000124491.11 | ENST00000264870.3,ENST00000431222.2,ENST00000414279.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for F13A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455992 | 6 | 6144317:6146005:6152045:6152182:6167690:6167851 | 6152045:6152182 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455993 | 6 | 6167690:6167851:6174812:6175100:6182220:6182374 | 6174812:6175100 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455994 | 6 | 6174812:6175100:6182220:6182374:6196029:6196118 | 6182220:6182374 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455996 | 6 | 6248544:6248652:6251043:6251162:6266790:6267042 | 6251043:6251162 | ENSG00000124491.11 | ENST00000264870.3 |
| exon_skip_455997 | 6 | 6251139:6251162:6266790:6267042:6305583:6305772 | 6266790:6267042 | ENSG00000124491.11 | ENST00000264870.3,ENST00000479211.1 |
| exon_skip_455998 | 6 | 6266966:6267042:6305583:6305772:6318767:6318915 | 6305583:6305772 | ENSG00000124491.11 | ENST00000264870.3,ENST00000414279.1,ENST00000431222.2 |
| 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 F13A1 |
| 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 |
| ENST00000264870 | 6152045 | 6152182 | Frame-shift |
| ENST00000264870 | 6182220 | 6182374 | Frame-shift |
| ENST00000264870 | 6251043 | 6251162 | Frame-shift |
| ENST00000264870 | 6174812 | 6175100 | In-frame |
| ENST00000264870 | 6266790 | 6267042 | In-frame |
| ENST00000264870 | 6305583 | 6305772 | 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 |
| ENST00000264870 | 6152045 | 6152182 | Frame-shift |
| ENST00000264870 | 6182220 | 6182374 | Frame-shift |
| ENST00000264870 | 6251043 | 6251162 | Frame-shift |
| ENST00000264870 | 6174812 | 6175100 | In-frame |
| ENST00000264870 | 6266790 | 6267042 | In-frame |
| ENST00000264870 | 6305583 | 6305772 | In-frame |
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Infer the effects of exon skipping event on protein functional features for F13A1 |
| 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 |
| ENST00000264870 | 4016 | 732 | 6305583 | 6305772 | 397 | 585 | 43 | 106 |
| ENST00000264870 | 4016 | 732 | 6266790 | 6267042 | 586 | 837 | 106 | 190 |
| ENST00000264870 | 4016 | 732 | 6174812 | 6175100 | 1726 | 2013 | 486 | 582 |
| 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 |
| ENST00000264870 | 4016 | 732 | 6305583 | 6305772 | 397 | 585 | 43 | 106 |
| ENST00000264870 | 4016 | 732 | 6266790 | 6267042 | 586 | 837 | 106 | 190 |
| ENST00000264870 | 4016 | 732 | 6174812 | 6175100 | 1726 | 2013 | 486 | 582 |
| 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 |
| P00488 | 43 | 106 | 48 | 52 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 68 | 71 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1GGU |
| P00488 | 43 | 106 | 74 | 78 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 81 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 100 | 105 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 39 | 732 | Chain | ID=PRO_0000033647;Note=Coagulation factor XIII A chain |
| P00488 | 43 | 106 | 42 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 60 | 64 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 89 | 89 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P00488 | 43 | 106 | 95 | 97 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 107 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 116 | 125 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 132 | 139 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 142 | 148 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 156 | 166 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 169 | 172 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 39 | 732 | Chain | ID=PRO_0000033647;Note=Coagulation factor XIII A chain |
| P00488 | 106 | 190 | 112 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 167 | 167 | Natural variant | ID=VAR_074280;Note=In FA13AD%3B mild%3B no effect on intracellular protein abundance%3B no effect on protein-glutamine gamma-glutamyltransferase activity%3B no effect on alpha-2-antiplasmin to fibrin cross-linking activity%3B loss of fibrin alpha chain cr |
| P00488 | 106 | 190 | 168 | 168 | Natural variant | ID=VAR_077620;Note=In FA13AD%3B decreased intracellular protein abundance%3B decreased protein-glutamine gamma-glutamyltransferase activity%3B no effect on alpha-2-antiplasmin to fibrin cross-linking activity%3B loss of fibrin alpha chain cross-linking ac |
| P00488 | 106 | 190 | 172 | 172 | Natural variant | ID=VAR_074281;Note=In FA13AD%3B mild%3B decreased intracellular protein abundance%3B loss of protein-glutamine gamma-glutamyltransferase activity%3B decreased alpha-2-antiplasmin to fibrin cross-linking activity%3B decreased rate of fibrin gamma chain cro |
| P00488 | 486 | 582 | 519 | 527 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 534 | 542 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 544 | 546 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 548 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 561 | 563 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MHO |
| P00488 | 486 | 582 | 565 | 578 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 580 | 590 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 39 | 732 | Chain | ID=PRO_0000033647;Note=Coagulation factor XIII A chain |
| P00488 | 486 | 582 | 489 | 501 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 486 | 486 | Metal binding | Note=Calcium;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9988734;Dbxref=PMID:9988734 |
| P00488 | 486 | 582 | 491 | 491 | Metal binding | Note=Calcium;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9988734;Dbxref=PMID:9988734 |
| P00488 | 486 | 582 | 530 | 530 | Natural variant | ID=VAR_074288;Note=In FA13AD%3B mild%3B decreased intracellular protein abundance%3B loss of protein-glutamine gamma-glutamyltransferase activity%3B decreased alpha-2-antiplasmin to fibrin cross-linking activity%3B loss of fibrin gamma chain cross-linking |
| P00488 | 486 | 582 | 541 | 541 | Natural variant | ID=VAR_077622;Note=In FA13AD%3B decreased intracellular protein abundance%3B no effect on protein-glutamine gamma-glutamyltransferase activity%3B no effect on alpha-2-antiplasmin to fibrin cross-linking activity%3B no effect on fibrin alpha chain and gamm |
| P00488 | 486 | 582 | 551 | 551 | Natural variant | ID=VAR_013928;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs5984,PMID:10391209 |
| P00488 | 486 | 582 | 565 | 565 | Natural variant | ID=VAR_007471;Note=In allele F13A*1A%2C allele F13A*2A and allele F13*(2)A. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:2901091,ECO:0000269|Ref.5;Dbxref=dbSNP:rs5982,PMID:10391209,PMID:290 |
| 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 |
| P00488 | 43 | 106 | 48 | 52 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 68 | 71 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1GGU |
| P00488 | 43 | 106 | 74 | 78 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 81 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 100 | 105 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 39 | 732 | Chain | ID=PRO_0000033647;Note=Coagulation factor XIII A chain |
| P00488 | 43 | 106 | 42 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 60 | 64 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 43 | 106 | 89 | 89 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P00488 | 43 | 106 | 95 | 97 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 107 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 116 | 125 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 132 | 139 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 142 | 148 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 156 | 166 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 169 | 172 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 39 | 732 | Chain | ID=PRO_0000033647;Note=Coagulation factor XIII A chain |
| P00488 | 106 | 190 | 112 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 106 | 190 | 167 | 167 | Natural variant | ID=VAR_074280;Note=In FA13AD%3B mild%3B no effect on intracellular protein abundance%3B no effect on protein-glutamine gamma-glutamyltransferase activity%3B no effect on alpha-2-antiplasmin to fibrin cross-linking activity%3B loss of fibrin alpha chain cr |
| P00488 | 106 | 190 | 168 | 168 | Natural variant | ID=VAR_077620;Note=In FA13AD%3B decreased intracellular protein abundance%3B decreased protein-glutamine gamma-glutamyltransferase activity%3B no effect on alpha-2-antiplasmin to fibrin cross-linking activity%3B loss of fibrin alpha chain cross-linking ac |
| P00488 | 106 | 190 | 172 | 172 | Natural variant | ID=VAR_074281;Note=In FA13AD%3B mild%3B decreased intracellular protein abundance%3B loss of protein-glutamine gamma-glutamyltransferase activity%3B decreased alpha-2-antiplasmin to fibrin cross-linking activity%3B decreased rate of fibrin gamma chain cro |
| P00488 | 486 | 582 | 519 | 527 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 534 | 542 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 544 | 546 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 548 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 561 | 563 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MHO |
| P00488 | 486 | 582 | 565 | 578 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 580 | 590 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 39 | 732 | Chain | ID=PRO_0000033647;Note=Coagulation factor XIII A chain |
| P00488 | 486 | 582 | 489 | 501 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KTY |
| P00488 | 486 | 582 | 486 | 486 | Metal binding | Note=Calcium;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9988734;Dbxref=PMID:9988734 |
| P00488 | 486 | 582 | 491 | 491 | Metal binding | Note=Calcium;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9988734;Dbxref=PMID:9988734 |
| P00488 | 486 | 582 | 530 | 530 | Natural variant | ID=VAR_074288;Note=In FA13AD%3B mild%3B decreased intracellular protein abundance%3B loss of protein-glutamine gamma-glutamyltransferase activity%3B decreased alpha-2-antiplasmin to fibrin cross-linking activity%3B loss of fibrin gamma chain cross-linking |
| P00488 | 486 | 582 | 541 | 541 | Natural variant | ID=VAR_077622;Note=In FA13AD%3B decreased intracellular protein abundance%3B no effect on protein-glutamine gamma-glutamyltransferase activity%3B no effect on alpha-2-antiplasmin to fibrin cross-linking activity%3B no effect on fibrin alpha chain and gamm |
| P00488 | 486 | 582 | 551 | 551 | Natural variant | ID=VAR_013928;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs5984,PMID:10391209 |
| P00488 | 486 | 582 | 565 | 565 | Natural variant | ID=VAR_007471;Note=In allele F13A*1A%2C allele F13A*2A and allele F13*(2)A. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:2901091,ECO:0000269|Ref.5;Dbxref=dbSNP:rs5982,PMID:10391209,PMID:290 |
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SNVs in the skipped exons for F13A1 |
| - 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-A3A0-01 | exon_skip_455992 | 6152046 | 6152182 | 6152110 | 6152110 | Frame_Shift_Del | G | - | p.L661fs |
| HNSC | TCGA-BA-A4IF-01 | exon_skip_455993 | 6174813 | 6175100 | 6174921 | 6174921 | Frame_Shift_Del | G | - | p.R547fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_455996 | 6251044 | 6251162 | 6251091 | 6251091 | Frame_Shift_Del | A | - | p.Y215fs |
| STAD | TCGA-BR-6802-01 | exon_skip_455997 | 6266791 | 6267042 | 6266965 | 6266965 | Frame_Shift_Del | C | - | p.A133fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_455997 | 6266791 | 6267042 | 6266965 | 6266965 | Frame_Shift_Del | C | - | p.A133fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_455997 | 6266791 | 6267042 | 6266965 | 6266965 | Frame_Shift_Del | C | - | p.A133fs |
| UCS | TCGA-NG-A4VW-01 | exon_skip_455997 | 6266791 | 6267042 | 6266846 | 6266847 | Frame_Shift_Ins | - | C | p.H172fs |
| UCS | TCGA-NG-A4VW-01 | exon_skip_455997 | 6266791 | 6267042 | 6266846 | 6266847 | Frame_Shift_Ins | - | C | p.R172fs |
| BLCA | TCGA-DK-A3WW-01 | exon_skip_455992 | 6152046 | 6152182 | 6152170 | 6152170 | Nonsense_Mutation | G | A | p.Q641* |
| LUAD | TCGA-69-7979-01 | exon_skip_455994 | 6182221 | 6182374 | 6182293 | 6182293 | Nonsense_Mutation | T | A | p.K463* |
| HNSC | TCGA-CV-7568-01 | exon_skip_455997 | 6266791 | 6267042 | 6266848 | 6266848 | Nonsense_Mutation | G | A | p.R172* |
| SKCM | TCGA-EB-A3Y6-01 | exon_skip_455997 | 6266791 | 6267042 | 6266848 | 6266848 | Nonsense_Mutation | G | A | p.R172* |
| SKCM | TCGA-EB-A3Y6-01 | exon_skip_455997 | 6266791 | 6267042 | 6266848 | 6266848 | Nonsense_Mutation | G | A | p.R172X |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_455997 | 6266791 | 6267042 | 6266969 | 6266969 | Nonsense_Mutation | C | T | p.W131* |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_455997 | 6266791 | 6267042 | 6266970 | 6266970 | Nonsense_Mutation | C | T | p.W131* |
| LUAD | TCGA-55-7907-01 | exon_skip_455997 | 6266791 | 6267042 | 6266977 | 6266977 | Nonsense_Mutation | C | A | p.G129* |
| HNSC | TCGA-CN-A63T-01 | exon_skip_455998 | 6305584 | 6305772 | 6305591 | 6305591 | Nonsense_Mutation | G | T | p.Y104* |
| - 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 |
| RKO_LARGE_INTESTINE | 6174813 | 6175100 | 6174847 | 6174849 | In_Frame_Del | CTT | - | p.K571del |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6152046 | 6152182 | 6152060 | 6152060 | Missense_Mutation | C | T | p.M677I |
| A375_SKIN | 6152046 | 6152182 | 6152082 | 6152082 | Missense_Mutation | C | T | p.G670D |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6152046 | 6152182 | 6152106 | 6152106 | Missense_Mutation | C | T | p.R662Q |
| MM386_SKIN | 6152046 | 6152182 | 6152106 | 6152106 | Missense_Mutation | C | T | p.R662Q |
| HT115_LARGE_INTESTINE | 6152046 | 6152182 | 6152106 | 6152106 | Missense_Mutation | C | T | p.R662Q |
| HCC1806_BREAST | 6152046 | 6152182 | 6152106 | 6152106 | Missense_Mutation | C | T | p.R662Q |
| VAESBJ_SOFT_TISSUE | 6152046 | 6152182 | 6152142 | 6152142 | Missense_Mutation | G | A | p.T650I |
| NCIH1734_LUNG | 6174813 | 6175100 | 6174834 | 6174834 | Missense_Mutation | C | T | p.V576M |
| HT115_LARGE_INTESTINE | 6174813 | 6175100 | 6174963 | 6174963 | Missense_Mutation | C | A | p.D533Y |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6174813 | 6175100 | 6174964 | 6174964 | Missense_Mutation | T | A | p.K532N |
| CAL12T_LUNG | 6182221 | 6182374 | 6182249 | 6182249 | Missense_Mutation | A | C | p.D477E |
| DOV13_OVARY | 6182221 | 6182374 | 6182290 | 6182290 | Missense_Mutation | A | T | p.L464I |
| HS294T_SKIN | 6182221 | 6182374 | 6182290 | 6182290 | Missense_Mutation | A | T | p.L464I |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6182221 | 6182374 | 6182291 | 6182291 | Missense_Mutation | T | G | p.K463N |
| IPC298_SKIN | 6182221 | 6182374 | 6182303 | 6182304 | Missense_Mutation | GG | AA | p.T459I |
| SNU520_STOMACH | 6182221 | 6182374 | 6182365 | 6182365 | Missense_Mutation | C | T | p.D439N |
| NCIH2066_LUNG | 6251044 | 6251162 | 6251102 | 6251102 | Missense_Mutation | C | A | p.G211V |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6251044 | 6251162 | 6251136 | 6251136 | Missense_Mutation | T | C | p.K200E |
| DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6266791 | 6267042 | 6266847 | 6266847 | Missense_Mutation | C | T | p.R172Q |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6266791 | 6267042 | 6266856 | 6266856 | Missense_Mutation | C | T | p.G169D |
| OVCAR8_OVARY | 6266791 | 6267042 | 6266859 | 6266859 | Missense_Mutation | T | C | p.Y168C |
| CCK81_LARGE_INTESTINE | 6266791 | 6267042 | 6266874 | 6266874 | Missense_Mutation | G | A | p.A163V |
| HEC6_ENDOMETRIUM | 6266791 | 6267042 | 6266887 | 6266887 | Missense_Mutation | G | A | p.R159C |
| HCT15_LARGE_INTESTINE | 6266791 | 6267042 | 6266932 | 6266932 | Missense_Mutation | G | A | p.R144W |
| NCIH650_LUNG | 6266791 | 6267042 | 6266967 | 6266967 | Missense_Mutation | C | T | p.G132E |
| SNU216_STOMACH | 6266791 | 6267042 | 6266976 | 6266976 | Missense_Mutation | C | G | p.G129A |
| SF268_CENTRAL_NERVOUS_SYSTEM | 6266791 | 6267042 | 6267008 | 6267008 | Missense_Mutation | G | C | p.I118M |
| SNU81_LARGE_INTESTINE | 6266791 | 6267042 | 6267040 | 6267040 | Missense_Mutation | G | A | p.R108C |
| NCIH1339_LUNG | 6305584 | 6305772 | 6305608 | 6305608 | Missense_Mutation | G | T | p.L99I |
| PCI30_UPPER_AERODIGESTIVE_TRACT | 6305584 | 6305772 | 6305609 | 6305609 | Missense_Mutation | A | T | p.D98E |
| OVCAR8_OVARY | 6305584 | 6305772 | 6305647 | 6305647 | Missense_Mutation | G | T | p.Q86K |
| WM88_SKIN | 6305584 | 6305772 | 6305658 | 6305658 | Missense_Mutation | G | A | p.S82F |
| SNU81_LARGE_INTESTINE | 6305584 | 6305772 | 6305658 | 6305658 | Missense_Mutation | G | A | p.S82F |
| DMS273_LUNG | 6305584 | 6305772 | 6305664 | 6305664 | Missense_Mutation | C | A | p.G80V |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6305584 | 6305772 | 6305670 | 6305670 | Missense_Mutation | C | T | p.R78H |
| SW684_SOFT_TISSUE | 6305584 | 6305772 | 6305701 | 6305701 | Missense_Mutation | C | T | p.D68N |
| MDAMB361_BREAST | 6266791 | 6267042 | 6266848 | 6266848 | Nonsense_Mutation | G | A | p.R172* |
| SH4_SKIN | 6152046 | 6152182 | 6152047 | 6152047 | Splice_Site | G | A | p.R682C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for F13A1 |
| 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 F13A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for F13A1 |
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RelatedDrugs for F13A1 |
| 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 |
| P00488 | DB11300 | Thrombin | Coagulation factor XIII A chain | biotech | approved|investigational | |
| P00488 | DB13151 | Anti-inhibitor coagulant complex | Coagulation factor XIII A chain | biotech | approved|investigational |
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RelatedDiseases for F13A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| F13A1 | C2750514 | Factor Xiii, A Subunit, Deficiency Of | 3 | CTD_human;UNIPROT |
| F13A1 | C0015530 | Factor XIII Deficiency | 1 | CTD_human |
| F13A1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| F13A1 | C0042487 | Venous Thrombosis | 1 | CTD_human |
| F13A1 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
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