|
||||||
|
 | |
| |
| |
| |
| 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 COL9A3 |
 Gene summary |
| Gene information | Gene symbol | COL9A3 | Gene ID | 1299 |
| Gene name | collagen type IX alpha 3 chain | |
| Synonyms | DJ885L7.4.1|EDM3|IDD|MED | |
| Cytomap | 20q13.33 | |
| Type of gene | protein-coding | |
| Description | collagen alpha-3(IX) chaincollagen IX, alpha-3 polypeptidecollagen type IX proteoglycancollagen, type IX, alpha 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q14050 | |
| Context | PubMed: COL9A3 [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 |
Top |
Exon skipping events across known transcript of Ensembl for COL9A3 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 COL9A3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for COL9A3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353654 | 20 | 61448918:61448987:61449869:61449905:61450573:61450645 | 61449869:61449905 | ENSG00000092758.11 | ENST00000343916.3,ENST00000477612.1,ENST00000489045.1 |
| exon_skip_353655 | 20 | 61449869:61449905:61450573:61450645:61451280:61451334 | 61450573:61450645 | ENSG00000092758.11 | ENST00000343916.3,ENST00000452372.1,ENST00000477612.1,ENST00000489045.1 |
| exon_skip_353659 | 20 | 61452532:61452568:61452858:61452882:61453108:61453162 | 61452858:61452882 | ENSG00000092758.11 | ENST00000343916.3,ENST00000452372.1,ENST00000477612.1,ENST00000489045.1 |
| exon_skip_353660 | 20 | 61453942:61453984:61455796:61455853:61456319:61456373 | 61455796:61455853 | ENSG00000092758.11 | ENST00000343916.3,ENST00000452372.1,ENST00000477612.1,ENST00000489045.1 |
| exon_skip_353663 | 20 | 61455796:61455853:61456319:61456373:61457168:61457222 | 61456319:61456373 | ENSG00000092758.11 | ENST00000343916.3,ENST00000452372.1,ENST00000489045.1 |
| exon_skip_353664 | 20 | 61456319:61456373:61456815:61457018:61457168:61457222 | 61456815:61457018 | ENSG00000092758.11 | ENST00000463487.1 |
| exon_skip_353666 | 20 | 61457168:61457222:61457555:61457609:61458118:61458172 | 61457555:61457609 | ENSG00000092758.11 | ENST00000343916.3,ENST00000489045.1,ENST00000463487.1 |
| exon_skip_353667 | 20 | 61461868:61461940:61463505:61463541:61464371:61464416 | 61463505:61463541 | ENSG00000092758.11 | ENST00000343916.3 |
| exon_skip_353670 | 20 | 61467272:61467305:61467538:61467685:61467829:61467884 | 61467538:61467685 | ENSG00000092758.11 | ENST00000343916.3,ENST00000466192.1 |
| exon_skip_353671 | 20 | 61467649:61467685:61467829:61467884:61468434:61468617 | 61467829:61467884 | ENSG00000092758.11 | ENST00000343916.3,ENST00000466192.1 |
| exon_skip_353673 | 20 | 61467829:61467884:61468434:61468617:61470035:61470113 | 61468434:61468617 | ENSG00000092758.11 | ENST00000343916.3,ENST00000466192.1,ENST00000467819.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for COL9A3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353654 | 20 | 61448918:61448987:61449869:61449905:61450573:61450645 | 61449869:61449905 | ENSG00000092758.11 | ENST00000477612.1,ENST00000343916.3,ENST00000489045.1 |
| exon_skip_353655 | 20 | 61449869:61449905:61450573:61450645:61451280:61451334 | 61450573:61450645 | ENSG00000092758.11 | ENST00000477612.1,ENST00000343916.3,ENST00000489045.1,ENST00000452372.1 |
| exon_skip_353659 | 20 | 61452532:61452568:61452858:61452882:61453108:61453162 | 61452858:61452882 | ENSG00000092758.11 | ENST00000477612.1,ENST00000343916.3,ENST00000489045.1,ENST00000452372.1 |
| exon_skip_353660 | 20 | 61453942:61453984:61455796:61455853:61456319:61456373 | 61455796:61455853 | ENSG00000092758.11 | ENST00000477612.1,ENST00000343916.3,ENST00000489045.1,ENST00000452372.1 |
| exon_skip_353663 | 20 | 61455796:61455853:61456319:61456373:61457168:61457222 | 61456319:61456373 | ENSG00000092758.11 | ENST00000343916.3,ENST00000489045.1,ENST00000452372.1 |
| exon_skip_353664 | 20 | 61456319:61456373:61456815:61457018:61457168:61457222 | 61456815:61457018 | ENSG00000092758.11 | ENST00000463487.1 |
| exon_skip_353666 | 20 | 61457168:61457222:61457555:61457609:61458118:61458172 | 61457555:61457609 | ENSG00000092758.11 | ENST00000343916.3,ENST00000489045.1,ENST00000463487.1 |
| exon_skip_353667 | 20 | 61461868:61461940:61463505:61463541:61464371:61464416 | 61463505:61463541 | ENSG00000092758.11 | ENST00000343916.3 |
| exon_skip_353670 | 20 | 61467272:61467305:61467538:61467685:61467829:61467884 | 61467538:61467685 | ENSG00000092758.11 | ENST00000343916.3,ENST00000466192.1 |
| exon_skip_353671 | 20 | 61467649:61467685:61467829:61467884:61468434:61468617 | 61467829:61467884 | ENSG00000092758.11 | ENST00000343916.3,ENST00000466192.1 |
| exon_skip_353673 | 20 | 61467829:61467884:61468434:61468617:61470035:61470113 | 61468434:61468617 | ENSG00000092758.11 | ENST00000343916.3,ENST00000466192.1,ENST00000467819.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for COL9A3 |
| 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 |
| ENST00000343916 | 61467829 | 61467884 | Frame-shift |
| ENST00000343916 | 61449869 | 61449905 | In-frame |
| ENST00000343916 | 61450573 | 61450645 | In-frame |
| ENST00000343916 | 61452858 | 61452882 | In-frame |
| ENST00000343916 | 61455796 | 61455853 | In-frame |
| ENST00000343916 | 61456319 | 61456373 | In-frame |
| ENST00000343916 | 61457555 | 61457609 | In-frame |
| ENST00000343916 | 61463505 | 61463541 | In-frame |
| ENST00000343916 | 61467538 | 61467685 | In-frame |
| ENST00000343916 | 61468434 | 61468617 | 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 |
| ENST00000343916 | 61467829 | 61467884 | Frame-shift |
| ENST00000343916 | 61449869 | 61449905 | In-frame |
| ENST00000343916 | 61450573 | 61450645 | In-frame |
| ENST00000343916 | 61452858 | 61452882 | In-frame |
| ENST00000343916 | 61455796 | 61455853 | In-frame |
| ENST00000343916 | 61456319 | 61456373 | In-frame |
| ENST00000343916 | 61457555 | 61457609 | In-frame |
| ENST00000343916 | 61463505 | 61463541 | In-frame |
| ENST00000343916 | 61467538 | 61467685 | In-frame |
| ENST00000343916 | 61468434 | 61468617 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for COL9A3 |
| 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 |
| ENST00000343916 | 2502 | 684 | 61449869 | 61449905 | 151 | 186 | 49 | 61 |
| ENST00000343916 | 2502 | 684 | 61450573 | 61450645 | 187 | 258 | 61 | 85 |
| ENST00000343916 | 2502 | 684 | 61455796 | 61455853 | 523 | 579 | 173 | 192 |
| ENST00000343916 | 2502 | 684 | 61456319 | 61456373 | 580 | 633 | 192 | 210 |
| ENST00000343916 | 2502 | 684 | 61457555 | 61457609 | 688 | 741 | 228 | 246 |
| ENST00000343916 | 2502 | 684 | 61463505 | 61463541 | 1291 | 1326 | 429 | 441 |
| ENST00000343916 | 2502 | 684 | 61467538 | 61467685 | 1405 | 1551 | 467 | 516 |
| ENST00000343916 | 2502 | 684 | 61468434 | 61468617 | 1607 | 1789 | 534 | 595 |
| 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 |
| ENST00000343916 | 2502 | 684 | 61449869 | 61449905 | 151 | 186 | 49 | 61 |
| ENST00000343916 | 2502 | 684 | 61450573 | 61450645 | 187 | 258 | 61 | 85 |
| ENST00000343916 | 2502 | 684 | 61455796 | 61455853 | 523 | 579 | 173 | 192 |
| ENST00000343916 | 2502 | 684 | 61456319 | 61456373 | 580 | 633 | 192 | 210 |
| ENST00000343916 | 2502 | 684 | 61457555 | 61457609 | 688 | 741 | 228 | 246 |
| ENST00000343916 | 2502 | 684 | 61463505 | 61463541 | 1291 | 1326 | 429 | 441 |
| ENST00000343916 | 2502 | 684 | 61467538 | 61467685 | 1405 | 1551 | 467 | 516 |
| ENST00000343916 | 2502 | 684 | 61468434 | 61468617 | 1607 | 1789 | 534 | 595 |
| 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 |
| Q14050 | 49 | 61 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 49 | 61 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 61 | 85 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 61 | 85 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 173 | 192 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 173 | 192 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 192 | 210 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 192 | 210 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 228 | 246 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 228 | 246 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 429 | 441 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 429 | 441 | 435 | 435 | Natural variant | ID=VAR_026471;Note=A->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11565064,ECO:0000269|PubMed:8586434;Dbxref=dbSNP:rs751557,PMID:11565064,PMID:8586434 |
| Q14050 | 429 | 441 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 467 | 516 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 467 | 516 | 483 | 483 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14050 | 467 | 516 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 534 | 595 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 534 | 595 | 522 | 543 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5CTD |
| Q14050 | 534 | 595 | 563 | 565 | Natural variant | ID=VAR_012660;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10428822;Dbxref=PMID:10428822 |
| Q14050 | 534 | 595 | 564 | 566 | Natural variant | ID=VAR_012661;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10428822;Dbxref=PMID:10428822 |
| Q14050 | 534 | 595 | 520 | 550 | Region | Note=Nonhelical region 3 (NC3) |
| Q14050 | 534 | 595 | 551 | 630 | Region | Note=Triple-helical region 2 (COL2) |
| Q14050 | 534 | 595 | 576 | 576 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q14050 | 49 | 61 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 49 | 61 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 61 | 85 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 61 | 85 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 173 | 192 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 173 | 192 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 192 | 210 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 192 | 210 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 228 | 246 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 228 | 246 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 429 | 441 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 429 | 441 | 435 | 435 | Natural variant | ID=VAR_026471;Note=A->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11565064,ECO:0000269|PubMed:8586434;Dbxref=dbSNP:rs751557,PMID:11565064,PMID:8586434 |
| Q14050 | 429 | 441 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 467 | 516 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 467 | 516 | 483 | 483 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14050 | 467 | 516 | 29 | 519 | Region | Note=Triple-helical region 3 (COL3) |
| Q14050 | 534 | 595 | 26 | 684 | Chain | ID=PRO_0000005848;Note=Collagen alpha-3(IX) chain |
| Q14050 | 534 | 595 | 522 | 543 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5CTD |
| Q14050 | 534 | 595 | 563 | 565 | Natural variant | ID=VAR_012660;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10428822;Dbxref=PMID:10428822 |
| Q14050 | 534 | 595 | 564 | 566 | Natural variant | ID=VAR_012661;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10428822;Dbxref=PMID:10428822 |
| Q14050 | 534 | 595 | 520 | 550 | Region | Note=Nonhelical region 3 (NC3) |
| Q14050 | 534 | 595 | 551 | 630 | Region | Note=Triple-helical region 2 (COL2) |
| Q14050 | 534 | 595 | 576 | 576 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for COL9A3 |
| - 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. |
COL9A3_CESC_exon_skip_353670_psi_boxplot.png |
| - 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-A39Y-01 | exon_skip_353655 | 61450574 | 61450645 | 61450582 | 61450582 | Frame_Shift_Del | G | - | p.K64fs |
| COAD | TCGA-A6-5661-01 | exon_skip_353659 | 61452859 | 61452882 | 61452877 | 61452877 | Frame_Shift_Del | C | - | p.G121fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_353660 | 61455797 | 61455853 | 61455821 | 61455821 | Frame_Shift_Del | C | - | p.P183fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_353663 | 61456320 | 61456373 | 61456346 | 61456346 | Frame_Shift_Del | G | - | p.Q201fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_353666 | 61457556 | 61457609 | 61457601 | 61457601 | Frame_Shift_Del | G | - | p.G244fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_353670 | 61467539 | 61467685 | 61467617 | 61467617 | Frame_Shift_Del | C | - | p.P495fs |
| KICH | TCGA-KL-8337-01 | exon_skip_353655 | 61450574 | 61450645 | 61450635 | 61450636 | Frame_Shift_Ins | - | G | p.P82fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_353659 | 61452859 | 61452882 | 61452876 | 61452877 | Frame_Shift_Ins | - | C | p.G121fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_353659 | 61452859 | 61452882 | 61452877 | 61452878 | Frame_Shift_Ins | - | C | p.G121fs |
| CESC | TCGA-C5-A2LZ-01 | exon_skip_353670 | 61467539 | 61467685 | 61467602 | 61467602 | Nonsense_Mutation | C | T | p.Q489* |
| CESC | TCGA-IR-A3LA-01 | exon_skip_353670 | 61467539 | 61467685 | 61467602 | 61467602 | Nonsense_Mutation | C | T | p.Q489* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_353673 | 61468435 | 61468617 | 61468560 | 61468560 | Nonsense_Mutation | C | T | p.R577* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_353673 | 61468435 | 61468617 | 61468560 | 61468560 | Nonsense_Mutation | C | T | p.R577X |
| SKCM | TCGA-Z2-A8RT-06 | exon_skip_353673 | 61468435 | 61468617 | 61468560 | 61468560 | Nonsense_Mutation | C | T | p.R577* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IR-A3LA-01 |
| Cancer type: CESC | |
| ESID: exon_skip_353670 | |
| Skipped exon start: 61467539 | |
| Skipped exon end: 61467685 | |
| Mutation start: 61467602 | |
| Mutation end: 61467602 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q489* | |
exon_skip_300158_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_353670_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_514460_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_54120_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_7339_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_77466_CESC_TCGA-IR-A3LA-01.png | |
| - 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 |
| HEC59_ENDOMETRIUM | 61449870 | 61449905 | 61449900 | 61449900 | Frame_Shift_Del | C | - | p.P61fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61456320 | 61456373 | 61456346 | 61456346 | Frame_Shift_Del | G | - | p.Q201fs |
| JHUEM1_ENDOMETRIUM | 61467539 | 61467685 | 61467617 | 61467617 | Frame_Shift_Del | C | - | p.P495fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61467539 | 61467685 | 61467667 | 61467667 | Frame_Shift_Del | G | - | p.T510fs |
| LN229_CENTRAL_NERVOUS_SYSTEM | 61468435 | 61468617 | 61468565 | 61468566 | Frame_Shift_Ins | - | C | p.P579fs |
| OAW28_OVARY | 61452859 | 61452882 | 61452874 | 61452874 | Missense_Mutation | G | A | p.G121R |
| HEC59_ENDOMETRIUM | 61456320 | 61456373 | 61456332 | 61456332 | Missense_Mutation | T | A | p.Y197N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61456320 | 61456373 | 61456356 | 61456356 | Missense_Mutation | G | C | p.G205R |
| CCK81_LARGE_INTESTINE | 61457556 | 61457609 | 61457592 | 61457592 | Missense_Mutation | G | A | p.G241R |
| RERFLCFM_LUNG | 61467539 | 61467685 | 61467578 | 61467578 | Missense_Mutation | G | T | p.G481C |
| SW1271_LUNG | 61467830 | 61467884 | 61467852 | 61467852 | Missense_Mutation | G | T | p.R524L |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61468435 | 61468617 | 61468474 | 61468474 | Missense_Mutation | T | G | p.L548W |
| GAK_SKIN | 61468435 | 61468617 | 61468497 | 61468497 | Missense_Mutation | C | T | p.P556S |
| NCIH446_LUNG | 61468435 | 61468617 | 61468516 | 61468516 | Missense_Mutation | C | G | p.P562R |
| HMY1_SKIN | 61468435 | 61468617 | 61468524 | 61468524 | Missense_Mutation | C | T | p.P565S |
| NCIH841_LUNG | 61468435 | 61468617 | 61468530 | 61468530 | Missense_Mutation | C | T | p.P567S |
| BT474_BREAST | 61468435 | 61468617 | 61468602 | 61468602 | Missense_Mutation | G | A | p.D591N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL9A3 |
| 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 COL9A3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL9A3 |
Top |
RelatedDrugs for COL9A3 |
| 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 COL9A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COL9A3 | C1832998 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|