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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 COL4A6 |
 Gene summary |
| Gene information | Gene symbol | COL4A6 | Gene ID | 1288 |
| Gene name | collagen type IV alpha 6 chain | |
| Synonyms | CXDELq22.3|DELXq22.3|DFNX6 | |
| Cytomap | Xq22.3 | |
| Type of gene | protein-coding | |
| Description | collagen alpha-6(IV) chaincollagen IV, alpha-6 polypeptidecollagen of basement membrane, alpha-6collagen, type IV, alpha 6dJ889N15.4 (Collagen Alpha 6(IV)) | |
| Modification date | 20180523 | |
| UniProtAcc | Q14031 | |
| Context | PubMed: COL4A6 [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 COL4A6 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 COL4A6 |
| 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 COL4A6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516360 | X | 107400250:107400490:107402691:107402978:107403692:107403884 | 107402691:107402978 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516361 | X | 107402691:107402978:107403692:107403884:107404848:107404965 | 107403692:107403884 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516364 | X | 107406121:107406268:107407829:107407928:107408106:107408268 | 107407829:107407928 | ENSG00000197565.11 | ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516365 | X | 107408106:107408268:107408599:107408716:107412724:107412850 | 107408599:107408716 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516366 | X | 107408599:107408716:107412724:107412850:107413838:107413946 | 107412724:107412850 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1 |
| exon_skip_516368 | X | 107412724:107412850:107413174:107413246:107413838:107413946 | 107413174:107413246 | ENSG00000197565.11 | ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516369 | X | 107414039:107414147:107414616:107414691:107415698:107415762 | 107414616:107414691 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516370 | X | 107417669:107417851:107418319:107418445:107418883:107418972 | 107418319:107418445 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516372 | X | 107420070:107420241:107421913:107422075:107422446:107422668 | 107421913:107422075 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516375 | X | 107431077:107431257:107431746:107431907:107433621:107433726 | 107431746:107431907 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516376 | X | 107434622:107434763:107435702:107435810:107436857:107436927 | 107435702:107435810 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516377 | X | 107436857:107436927:107437763:107437817:107438311:107438356 | 107437763:107437817 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000334504.7 |
| exon_skip_516378 | X | 107438311:107438356:107439740:107439809:107446157:107446211 | 107439740:107439809 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000334504.7 |
| exon_skip_516379 | X | 107439740:107439809:107446157:107446211:107447549:107447642 | 107446157:107446211 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000394872.2,ENST00000334504.7 |
| exon_skip_516380 | X | 107447549:107447642:107448668:107448710:107448889:107448925 | 107448668:107448710 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000334504.7 |
| exon_skip_516383 | X | 107453198:107453234:107454901:107454970:107457341:107457458 | 107454901:107454970 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000334504.7 |
| exon_skip_516384 | X | 107464469:107464604:107553977:107554058:107681171:107681223 | 107553977:107554058 | ENSG00000197565.11 | ENST00000538570.1,ENST00000545689.1,ENST00000372216.4,ENST00000468338.1,ENST00000394872.2,ENST00000334504.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COL4A6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516360 | X | 107400250:107400490:107402691:107402978:107403692:107403884 | 107402691:107402978 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516361 | X | 107402691:107402978:107403692:107403884:107404848:107404965 | 107403692:107403884 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516364 | X | 107406121:107406268:107407829:107407928:107408106:107408268 | 107407829:107407928 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1 |
| exon_skip_516365 | X | 107408106:107408268:107408599:107408716:107412724:107412850 | 107408599:107408716 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516366 | X | 107408599:107408716:107412724:107412850:107413838:107413946 | 107412724:107412850 | ENSG00000197565.11 | ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516368 | X | 107412724:107412850:107413174:107413246:107413838:107413946 | 107413174:107413246 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2 |
| exon_skip_516369 | X | 107414039:107414147:107414616:107414691:107415698:107415762 | 107414616:107414691 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516370 | X | 107417669:107417851:107418319:107418445:107418883:107418972 | 107418319:107418445 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516372 | X | 107420070:107420241:107421913:107422075:107422446:107422668 | 107421913:107422075 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516375 | X | 107431077:107431257:107431746:107431907:107433621:107433726 | 107431746:107431907 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516376 | X | 107434622:107434763:107435702:107435810:107436857:107436927 | 107435702:107435810 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516377 | X | 107436857:107436927:107437763:107437817:107438311:107438356 | 107437763:107437817 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516378 | X | 107438311:107438356:107439740:107439809:107446157:107446211 | 107439740:107439809 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516379 | X | 107439740:107439809:107446157:107446211:107447549:107447642 | 107446157:107446211 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516380 | X | 107447549:107447642:107448668:107448710:107448889:107448925 | 107448668:107448710 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516383 | X | 107453198:107453234:107454901:107454970:107457341:107457458 | 107454901:107454970 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000545689.1,ENST00000538570.1 |
| exon_skip_516384 | X | 107464469:107464604:107553977:107554058:107681171:107681223 | 107553977:107554058 | ENSG00000197565.11 | ENST00000334504.7,ENST00000372216.4,ENST00000394872.2,ENST00000545689.1,ENST00000538570.1,ENST00000468338.1 |
| 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 COL4A6 |
| 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 |
| ENST00000372216 | 107402691 | 107402978 | Frame-shift |
| ENST00000372216 | 107431746 | 107431907 | Frame-shift |
| ENST00000372216 | 107403692 | 107403884 | In-frame |
| ENST00000372216 | 107407829 | 107407928 | In-frame |
| ENST00000372216 | 107408599 | 107408716 | In-frame |
| ENST00000372216 | 107413174 | 107413246 | In-frame |
| ENST00000372216 | 107414616 | 107414691 | In-frame |
| ENST00000372216 | 107418319 | 107418445 | In-frame |
| ENST00000372216 | 107421913 | 107422075 | In-frame |
| ENST00000372216 | 107435702 | 107435810 | In-frame |
| ENST00000372216 | 107437763 | 107437817 | In-frame |
| ENST00000372216 | 107439740 | 107439809 | In-frame |
| ENST00000372216 | 107446157 | 107446211 | In-frame |
| ENST00000372216 | 107448668 | 107448710 | In-frame |
| ENST00000372216 | 107454901 | 107454970 | In-frame |
| ENST00000372216 | 107553977 | 107554058 | 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 |
| ENST00000372216 | 107402691 | 107402978 | Frame-shift |
| ENST00000372216 | 107431746 | 107431907 | Frame-shift |
| ENST00000372216 | 107403692 | 107403884 | In-frame |
| ENST00000372216 | 107407829 | 107407928 | In-frame |
| ENST00000372216 | 107408599 | 107408716 | In-frame |
| ENST00000372216 | 107413174 | 107413246 | In-frame |
| ENST00000372216 | 107414616 | 107414691 | In-frame |
| ENST00000372216 | 107418319 | 107418445 | In-frame |
| ENST00000372216 | 107421913 | 107422075 | In-frame |
| ENST00000372216 | 107435702 | 107435810 | In-frame |
| ENST00000372216 | 107437763 | 107437817 | In-frame |
| ENST00000372216 | 107439740 | 107439809 | In-frame |
| ENST00000372216 | 107446157 | 107446211 | In-frame |
| ENST00000372216 | 107448668 | 107448710 | In-frame |
| ENST00000372216 | 107454901 | 107454970 | In-frame |
| ENST00000372216 | 107553977 | 107554058 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COL4A6 |
| 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 |
| ENST00000372216 | 6587 | 1691 | 107553977 | 107554058 | 168 | 248 | 22 | 49 |
| ENST00000372216 | 6587 | 1691 | 107454901 | 107454970 | 546 | 614 | 148 | 171 |
| ENST00000372216 | 6587 | 1691 | 107448668 | 107448710 | 750 | 791 | 216 | 230 |
| ENST00000372216 | 6587 | 1691 | 107446157 | 107446211 | 885 | 938 | 261 | 279 |
| ENST00000372216 | 6587 | 1691 | 107439740 | 107439809 | 939 | 1007 | 279 | 302 |
| ENST00000372216 | 6587 | 1691 | 107437763 | 107437817 | 1053 | 1106 | 317 | 335 |
| ENST00000372216 | 6587 | 1691 | 107435702 | 107435810 | 1177 | 1284 | 358 | 394 |
| ENST00000372216 | 6587 | 1691 | 107421913 | 107422075 | 2458 | 2619 | 785 | 839 |
| ENST00000372216 | 6587 | 1691 | 107418319 | 107418445 | 2935 | 3060 | 944 | 986 |
| ENST00000372216 | 6587 | 1691 | 107414616 | 107414691 | 3307 | 3381 | 1068 | 1093 |
| ENST00000372216 | 6587 | 1691 | 107413174 | 107413246 | 3598 | 3669 | 1165 | 1189 |
| ENST00000372216 | 6587 | 1691 | 107408599 | 107408716 | 3796 | 3912 | 1231 | 1270 |
| ENST00000372216 | 6587 | 1691 | 107407829 | 107407928 | 4075 | 4173 | 1324 | 1357 |
| ENST00000372216 | 6587 | 1691 | 107403692 | 107403884 | 4438 | 4629 | 1445 | 1509 |
| 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 |
| ENST00000372216 | 6587 | 1691 | 107553977 | 107554058 | 168 | 248 | 22 | 49 |
| ENST00000372216 | 6587 | 1691 | 107454901 | 107454970 | 546 | 614 | 148 | 171 |
| ENST00000372216 | 6587 | 1691 | 107448668 | 107448710 | 750 | 791 | 216 | 230 |
| ENST00000372216 | 6587 | 1691 | 107446157 | 107446211 | 885 | 938 | 261 | 279 |
| ENST00000372216 | 6587 | 1691 | 107439740 | 107439809 | 939 | 1007 | 279 | 302 |
| ENST00000372216 | 6587 | 1691 | 107437763 | 107437817 | 1053 | 1106 | 317 | 335 |
| ENST00000372216 | 6587 | 1691 | 107435702 | 107435810 | 1177 | 1284 | 358 | 394 |
| ENST00000372216 | 6587 | 1691 | 107421913 | 107422075 | 2458 | 2619 | 785 | 839 |
| ENST00000372216 | 6587 | 1691 | 107418319 | 107418445 | 2935 | 3060 | 944 | 986 |
| ENST00000372216 | 6587 | 1691 | 107414616 | 107414691 | 3307 | 3381 | 1068 | 1093 |
| ENST00000372216 | 6587 | 1691 | 107413174 | 107413246 | 3598 | 3669 | 1165 | 1189 |
| ENST00000372216 | 6587 | 1691 | 107408599 | 107408716 | 3796 | 3912 | 1231 | 1270 |
| ENST00000372216 | 6587 | 1691 | 107407829 | 107407928 | 4075 | 4173 | 1324 | 1357 |
| ENST00000372216 | 6587 | 1691 | 107403692 | 107403884 | 4438 | 4629 | 1445 | 1509 |
| 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 COL4A6 |
| - 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_516384 | 107553978 | 107554058 | 107553996 | 107553996 | Frame_Shift_Del | A | - | p.F42fs |
| LUSC | TCGA-66-2767-01 | 107408600 | 107408716 | 107408661 | 107408662 | Frame_Shift_Ins | - | A | p.L1250fs | |
| PRAD | TCGA-XJ-A9DX-01 | exon_skip_516368 | 107413175 | 107413246 | 107413200 | 107413201 | Frame_Shift_Ins | - | C | p.D1180fs |
| COAD | TCGA-G4-6302-01 | exon_skip_516366 | 107412725 | 107412850 | 107412728 | 107412728 | Nonsense_Mutation | G | A | p.R1230X |
| LUAD | TCGA-95-7567-01 | exon_skip_516366 | 107412725 | 107412850 | 107412728 | 107412728 | Nonsense_Mutation | G | A | p.R1231* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_516370 | 107418320 | 107418445 | 107418374 | 107418374 | Nonsense_Mutation | C | A | p.G969* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_516375 | 107431747 | 107431907 | 107431785 | 107431785 | Nonsense_Mutation | G | A | p.R518* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_516377 | 107437764 | 107437817 | 107437766 | 107437766 | Nonsense_Mutation | C | A | p.E335* |
| LGG | TCGA-DU-6392-01 | exon_skip_516384 | 107553978 | 107554058 | 107554055 | 107554055 | Nonsense_Mutation | C | A | p.E23* |
| GBM | TCGA-27-1835-01 | exon_skip_516364 | 107407830 | 107407928 | 107407829 | 107407829 | Splice_Site | C | A | p.G1358_splice |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_516369 | 107414617 | 107414691 | 107414692 | 107414692 | Splice_Site | C | T | e33-1 |
| UCEC | TCGA-D1-A103-01 | exon_skip_516370 | 107418320 | 107418445 | 107418319 | 107418319 | Splice_Site | C | T | e30+1 |
| UCEC | TCGA-AP-A051-01 | exon_skip_516375 | 107431747 | 107431907 | 107431746 | 107431746 | Splice_Site | C | A | e21+1 |
| STAD | TCGA-BR-6852-01 | exon_skip_516380 | 107448669 | 107448710 | 107448667 | 107448667 | Splice_Site | A | G | p.K230_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 |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107421914 | 107422075 | 107421979 | 107421980 | Frame_Shift_Del | CT | - | p.S818fs |
| HEC6_ENDOMETRIUM | 107431747 | 107431907 | 107431772 | 107431772 | Frame_Shift_Del | C | - | p.G522fs |
| NBTU110_AUTONOMIC_GANGLIA | 107402692 | 107402978 | 107402755 | 107402760 | In_Frame_Del | GTCCTG | - | p.QD1583del |
| OC316_OVARY | 107402692 | 107402978 | 107402762 | 107402762 | Missense_Mutation | C | T | p.S1582N |
| OC314_OVARY | 107402692 | 107402978 | 107402762 | 107402762 | Missense_Mutation | C | T | p.S1582N |
| PACADD137_PANCREAS | 107402692 | 107402978 | 107402846 | 107402846 | Missense_Mutation | A | G | p.M1554T |
| MDAMB157_BREAST | 107403693 | 107403884 | 107403723 | 107403723 | Missense_Mutation | C | T | p.G1500R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107403693 | 107403884 | 107403779 | 107403779 | Missense_Mutation | G | A | p.P1481L |
| RS5_FIBROBLAST | 107403693 | 107403884 | 107403779 | 107403779 | Missense_Mutation | G | C | p.P1481R |
| HCET_UPPER_AERODIGESTIVE_TRACT | 107407830 | 107407928 | 107407852 | 107407852 | Missense_Mutation | C | A | p.M1350I |
| HCT15_LARGE_INTESTINE | 107407830 | 107407928 | 107407924 | 107407924 | Missense_Mutation | C | G | p.M1326I |
| NB12_AUTONOMIC_GANGLIA | 107412725 | 107412850 | 107412781 | 107412781 | Missense_Mutation | C | A | p.G1213V |
| EWS834_BONE | 107412725 | 107412850 | 107412838 | 107412838 | Missense_Mutation | G | C | p.T1194S |
| A549_LUNG | 107412725 | 107412850 | 107412847 | 107412847 | Missense_Mutation | G | C | p.P1191R |
| JHU028_LUNG | 107412725 | 107412850 | 107412847 | 107412847 | Missense_Mutation | G | C | p.P1191R |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107421914 | 107422075 | 107421958 | 107421958 | Missense_Mutation | C | T | p.G825D |
| HCT116_LARGE_INTESTINE | 107421914 | 107422075 | 107421967 | 107421967 | Missense_Mutation | C | T | p.G822D |
| HCC2998_LARGE_INTESTINE | 107431747 | 107431907 | 107431872 | 107431872 | Missense_Mutation | G | A | p.P489S |
| NCIH513_PLEURA | 107431747 | 107431907 | 107431886 | 107431886 | Missense_Mutation | C | G | p.C484S |
| MEWO_SKIN | 107435703 | 107435810 | 107435729 | 107435729 | Missense_Mutation | C | T | p.G386D |
| C33A_CERVIX | 107435703 | 107435810 | 107435739 | 107435739 | Missense_Mutation | C | T | p.G383S |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107435703 | 107435810 | 107435777 | 107435777 | Missense_Mutation | G | A | p.P370L |
| SNUC2B_LARGE_INTESTINE | 107437764 | 107437817 | 107437789 | 107437789 | Missense_Mutation | C | A | p.G327V |
| VMRCLCD_LUNG | 107437764 | 107437817 | 107437789 | 107437789 | Missense_Mutation | C | A | p.G327V |
| SW684_SOFT_TISSUE | 107437764 | 107437817 | 107437798 | 107437798 | Missense_Mutation | C | T | p.G324E |
| JHU028_LUNG | 107439741 | 107439809 | 107439786 | 107439786 | Missense_Mutation | C | A | p.K287N |
| CCK81_LARGE_INTESTINE | 107446158 | 107446211 | 107446179 | 107446179 | Missense_Mutation | T | C | p.I272M |
| SKUT1_SOFT_TISSUE | 107446158 | 107446211 | 107446199 | 107446199 | Missense_Mutation | G | A | p.P266S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107446158 | 107446211 | 107446208 | 107446208 | Missense_Mutation | C | T | p.E263K |
| PANC0213_PANCREAS | 107448669 | 107448710 | 107448685 | 107448685 | Missense_Mutation | C | T | p.G225E |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107448669 | 107448710 | 107448694 | 107448694 | Missense_Mutation | C | T | p.G222D |
| KYAE1_OESOPHAGUS | 107454902 | 107454970 | 107454910 | 107454910 | Missense_Mutation | C | T | p.G169R |
| SNU1040_LARGE_INTESTINE | 107454902 | 107454970 | 107454910 | 107454910 | Missense_Mutation | C | T | p.G169R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107454902 | 107454970 | 107454928 | 107454928 | Missense_Mutation | C | T | p.A163T |
| TGW_AUTONOMIC_GANGLIA | 107553978 | 107554058 | 107553989 | 107553989 | Missense_Mutation | T | C | p.K46E |
| JHH7_LIVER | 107553978 | 107554058 | 107554030 | 107554030 | Missense_Mutation | C | A | p.G32V |
| NCIH1155_LUNG | 107402692 | 107402978 | 107402742 | 107402742 | Nonsense_Mutation | G | A | p.Q1589* |
| NCIH2286_LUNG | 107403693 | 107403884 | 107403752 | 107403752 | Nonsense_Mutation | C | T | p.W1490* |
| NCIH2347_LUNG | 107421914 | 107422075 | 107421914 | 107421914 | Splice_Site | C | A | p.G840* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL4A6 |
| 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 COL4A6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL4A6 |
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RelatedDrugs for COL4A6 |
| 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 COL4A6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COL4A6 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| COL4A6 | C0086533 | Leiomyoma, Epithelioid | 1 | CTD_human |
| COL4A6 | C3806737 | DEAFNESS, X-LINKED 6 | 1 | UNIPROT |
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