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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 DYM |
 Gene summary |
| Gene information | Gene symbol | DYM | Gene ID | 54808 |
| Gene name | dymeclin | |
| Synonyms | DMC|SMC | |
| Cytomap | 18q21.1 | |
| Type of gene | protein-coding | |
| Description | dymeclindyggve-Melchior-Clausen syndrome protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q7RTS9 | |
| Context | PubMed: DYM [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 DYM 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 DYM |
| 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 DYM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_299168 | 18 | 46570189:46570574:46619586:46619681:46623771:46623863 | 46619586:46619681 | ENSG00000141627.9 | ENST00000577734.1 |
| exon_skip_299171 | 18 | 46570189:46570574:46623771:46623885:46645113:46645296 | 46623771:46623885 | ENSG00000141627.9 | ENST00000269445.6,ENST00000442713.2 |
| exon_skip_299179 | 18 | 46623771:46623885:46645113:46645296:46690054:46690157 | 46645113:46645296 | ENSG00000141627.9 | ENST00000269445.6,ENST00000442713.2 |
| exon_skip_299181 | 18 | 46645113:46645296:46690054:46690157:46783379:46783474 | 46690054:46690157 | ENSG00000141627.9 | ENST00000269445.6,ENST00000442713.2 |
| exon_skip_299182 | 18 | 46690080:46690157:46735920:46736085:46783379:46783474 | 46735920:46736085 | ENSG00000141627.9 | ENST00000582399.1 |
| exon_skip_299184 | 18 | 46798547:46798673:46808366:46808545:46812803:46812986 | 46808366:46808545 | ENSG00000141627.9 | ENST00000269445.6,ENST00000442713.2 |
| exon_skip_299187 | 18 | 46808537:46808545:46812803:46812986:46858233:46858376 | 46812803:46812986 | ENSG00000141627.9 | ENST00000269445.6,ENST00000584983.1 |
| exon_skip_299189 | 18 | 46812857:46812983:46855942:46856077:46858233:46858376 | 46855942:46856077 | ENSG00000141627.9 | ENST00000418472.2 |
| exon_skip_299192 | 18 | 46812866:46812986:46858233:46858376:46860097:46860223 | 46858233:46858376 | ENSG00000141627.9 | ENST00000581738.1,ENST00000269445.6,ENST00000584983.1,ENST00000583280.1,ENST00000580615.1 |
| exon_skip_299198 | 18 | 46858233:46858376:46860097:46860223:46889530:46889603 | 46860097:46860223 | ENSG00000141627.9 | ENST00000581738.1,ENST00000578396.1,ENST00000269445.6,ENST00000584983.1,ENST00000418472.2,ENST00000583280.1,ENST00000583225.1 |
| exon_skip_299200 | 18 | 46889588:46889603:46902017:46902094:46904936:46905019 | 46902017:46902094 | ENSG00000141627.9 | ENST00000578396.1 |
| exon_skip_299206 | 18 | 46905028:46905070:46906034:46906128:46917962:46918012 | 46906034:46906128 | ENSG00000141627.9 | ENST00000269445.6,ENST00000579058.1,ENST00000578596.1,ENST00000418472.2,ENST00000583353.1 |
| exon_skip_299212 | 18 | 46906115:46906128:46917754:46917821:46917962:46918012 | 46917754:46917821 | ENSG00000141627.9 | ENST00000577481.1 |
| exon_skip_299215 | 18 | 46906115:46906128:46917962:46918015:46956624:46956817 | 46917962:46918015 | ENSG00000141627.9 | ENST00000269445.6,ENST00000583353.1 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENSG00000141627.9 | ENST00000579058.1 |
| exon_skip_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENSG00000141627.9 | ENST00000581409.1 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENSG00000141627.9 | ENST00000582095.1 |
| exon_skip_299226 | 18 | 46917989:46918015:46956624:46956817:46986767:46986997 | 46956624:46956817 | ENSG00000141627.9 | ENST00000269445.6,ENST00000577481.1,ENST00000584977.1 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENSG00000141627.9 | ENST00000579058.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DYM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_299168 | 18 | 46570189:46570574:46619586:46619681:46623771:46623863 | 46619586:46619681 | ENSG00000141627.9 | ENST00000577734.1 |
| exon_skip_299171 | 18 | 46570189:46570574:46623771:46623885:46645113:46645296 | 46623771:46623885 | ENSG00000141627.9 | ENST00000442713.2,ENST00000269445.6 |
| exon_skip_299179 | 18 | 46623771:46623885:46645113:46645296:46690054:46690157 | 46645113:46645296 | ENSG00000141627.9 | ENST00000442713.2,ENST00000269445.6 |
| exon_skip_299181 | 18 | 46645113:46645296:46690054:46690157:46783379:46783474 | 46690054:46690157 | ENSG00000141627.9 | ENST00000442713.2,ENST00000269445.6 |
| exon_skip_299182 | 18 | 46690080:46690157:46735920:46736085:46783379:46783474 | 46735920:46736085 | ENSG00000141627.9 | ENST00000582399.1 |
| exon_skip_299184 | 18 | 46798547:46798673:46808366:46808545:46812803:46812986 | 46808366:46808545 | ENSG00000141627.9 | ENST00000442713.2,ENST00000269445.6 |
| exon_skip_299187 | 18 | 46808537:46808545:46812803:46812986:46858233:46858376 | 46812803:46812986 | ENSG00000141627.9 | ENST00000269445.6,ENST00000584983.1 |
| exon_skip_299189 | 18 | 46812857:46812983:46855942:46856077:46858233:46858376 | 46855942:46856077 | ENSG00000141627.9 | ENST00000418472.2 |
| exon_skip_299192 | 18 | 46812866:46812986:46858233:46858376:46860097:46860223 | 46858233:46858376 | ENSG00000141627.9 | ENST00000269445.6,ENST00000584983.1,ENST00000580615.1,ENST00000581738.1,ENST00000583280.1 |
| exon_skip_299198 | 18 | 46858233:46858376:46860097:46860223:46889530:46889603 | 46860097:46860223 | ENSG00000141627.9 | ENST00000269445.6,ENST00000584983.1,ENST00000418472.2,ENST00000583225.1,ENST00000581738.1,ENST00000583280.1,ENST00000578396.1 |
| exon_skip_299200 | 18 | 46889588:46889603:46902017:46902094:46904936:46905019 | 46902017:46902094 | ENSG00000141627.9 | ENST00000578396.1 |
| exon_skip_299206 | 18 | 46905028:46905070:46906034:46906128:46917962:46918012 | 46906034:46906128 | ENSG00000141627.9 | ENST00000269445.6,ENST00000418472.2,ENST00000578596.1,ENST00000579058.1,ENST00000583353.1 |
| exon_skip_299212 | 18 | 46906115:46906128:46917754:46917821:46917962:46918012 | 46917754:46917821 | ENSG00000141627.9 | ENST00000577481.1 |
| exon_skip_299215 | 18 | 46906115:46906128:46917962:46918015:46956624:46956817 | 46917962:46918015 | ENSG00000141627.9 | ENST00000269445.6,ENST00000583353.1 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENSG00000141627.9 | ENST00000579058.1 |
| exon_skip_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENSG00000141627.9 | ENST00000581409.1 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENSG00000141627.9 | ENST00000582095.1 |
| exon_skip_299226 | 18 | 46917989:46918015:46956624:46956817:46986767:46986997 | 46956624:46956817 | ENSG00000141627.9 | ENST00000269445.6,ENST00000577481.1,ENST00000584977.1 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENSG00000141627.9 | ENST00000579058.1 |
| 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 DYM |
| 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 |
| ENST00000269445 | 46956624 | 46956817 | 3UTR-3CDS |
| ENST00000269445 | 46690054 | 46690157 | Frame-shift |
| ENST00000269445 | 46808366 | 46808545 | Frame-shift |
| ENST00000269445 | 46858233 | 46858376 | Frame-shift |
| ENST00000269445 | 46906034 | 46906128 | Frame-shift |
| ENST00000269445 | 46917962 | 46918015 | Frame-shift |
| ENST00000269445 | 46623771 | 46623885 | In-frame |
| ENST00000269445 | 46645113 | 46645296 | In-frame |
| ENST00000269445 | 46812803 | 46812986 | In-frame |
| ENST00000269445 | 46860097 | 46860223 | 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 |
| ENST00000269445 | 46956624 | 46956817 | 3UTR-3CDS |
| ENST00000269445 | 46690054 | 46690157 | Frame-shift |
| ENST00000269445 | 46808366 | 46808545 | Frame-shift |
| ENST00000269445 | 46858233 | 46858376 | Frame-shift |
| ENST00000269445 | 46906034 | 46906128 | Frame-shift |
| ENST00000269445 | 46917962 | 46918015 | Frame-shift |
| ENST00000269445 | 46623771 | 46623885 | In-frame |
| ENST00000269445 | 46645113 | 46645296 | In-frame |
| ENST00000269445 | 46812803 | 46812986 | In-frame |
| ENST00000269445 | 46860097 | 46860223 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DYM |
| 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 |
| ENST00000269445 | 2720 | 669 | 46860097 | 46860223 | 953 | 1078 | 165 | 206 |
| ENST00000269445 | 2720 | 669 | 46812803 | 46812986 | 1222 | 1404 | 254 | 315 |
| ENST00000269445 | 2720 | 669 | 46645113 | 46645296 | 2022 | 2204 | 521 | 582 |
| ENST00000269445 | 2720 | 669 | 46623771 | 46623885 | 2205 | 2318 | 582 | 620 |
| 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 |
| ENST00000269445 | 2720 | 669 | 46860097 | 46860223 | 953 | 1078 | 165 | 206 |
| ENST00000269445 | 2720 | 669 | 46812803 | 46812986 | 1222 | 1404 | 254 | 315 |
| ENST00000269445 | 2720 | 669 | 46645113 | 46645296 | 2022 | 2204 | 521 | 582 |
| ENST00000269445 | 2720 | 669 | 46623771 | 46623885 | 2205 | 2318 | 582 | 620 |
| 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 DYM |
| - 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-A39Y-01 | exon_skip_299179 | 46645114 | 46645296 | 46645124 | 46645124 | Frame_Shift_Del | T | - | p.N579fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_299181 | 46690055 | 46690157 | 46690133 | 46690133 | Frame_Shift_Del | T | - | p.K495fs |
| SKCM | TCGA-OD-A75X-06 | exon_skip_299192 | 46858234 | 46858376 | 46858341 | 46858341 | Frame_Shift_Del | A | - | p.L219fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_299206 | 46906035 | 46906128 | 46906121 | 46906122 | Frame_Shift_Ins | - | T | p.K67fs |
| SKCM | TCGA-FR-A726-01 | exon_skip_299179 | 46645114 | 46645296 | 46645140 | 46645140 | Nonsense_Mutation | G | A | p.Q574* |
| SARC | TCGA-QQ-A8VG-01 | exon_skip_299179 | 46645114 | 46645296 | 46645158 | 46645158 | Nonsense_Mutation | G | A | p.R568* |
| SKCM | TCGA-BF-AAOU-01 | exon_skip_299179 | 46645114 | 46645296 | 46645158 | 46645158 | Nonsense_Mutation | G | A | p.R568* |
| SKCM | TCGA-EE-A2GU-06 | exon_skip_299179 | 46645114 | 46645296 | 46645158 | 46645158 | Nonsense_Mutation | G | A | p.R568* |
| SKCM | TCGA-EE-A2GU-06 | exon_skip_299179 | 46645114 | 46645296 | 46645158 | 46645158 | Nonsense_Mutation | G | A | p.R568X |
| SKCM | TCGA-WE-A8K5-06 | exon_skip_299179 | 46645114 | 46645296 | 46645158 | 46645158 | Nonsense_Mutation | G | A | p.R568* |
| COAD | TCGA-AZ-4315-01 | exon_skip_299179 | 46645114 | 46645296 | 46645263 | 46645263 | Nonsense_Mutation | G | A | p.R533X |
| SKCM | TCGA-EE-A2MS-06 | exon_skip_299179 | 46645114 | 46645296 | 46645263 | 46645263 | Nonsense_Mutation | G | A | p.R533* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_299179 | 46645114 | 46645296 | 46645263 | 46645263 | Nonsense_Mutation | G | A | p.R533* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_299179 | 46645114 | 46645296 | 46645263 | 46645263 | Nonsense_Mutation | G | A | p.R533* |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_299206 | 46906035 | 46906128 | 46906063 | 46906063 | Nonsense_Mutation | C | A | p.E87* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_299206 | 46906035 | 46906128 | 46906063 | 46906063 | Nonsense_Mutation | C | A | p.E87* |
| HNSC | TCGA-CV-6961-01 | exon_skip_299206 | 46906035 | 46906128 | 46906126 | 46906126 | Nonsense_Mutation | C | A | p.E66* |
| LUAD | TCGA-86-8073-01 | exon_skip_299226 | 46956625 | 46956817 | 46956761 | 46956761 | Nonsense_Mutation | C | A | p.G2* |
| - 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 |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46808367 | 46808545 | 46808539 | 46808539 | Frame_Shift_Del | C | - | p.S318fs |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46623772 | 46623885 | 46623825 | 46623825 | Missense_Mutation | C | T | p.V603I |
| NCIH1944_LUNG | 46623772 | 46623885 | 46623827 | 46623827 | Missense_Mutation | C | T | p.R602Q |
| NCIH2122_LUNG | 46623772 | 46623885 | 46623848 | 46623848 | Missense_Mutation | C | A | p.G595V |
| MDAMB231_BREAST | 46623772 | 46623885 | 46623852 | 46623852 | Missense_Mutation | C | A | p.A594S |
| SW684_SOFT_TISSUE | 46645114 | 46645296 | 46645193 | 46645193 | Missense_Mutation | G | A | p.A556V |
| SNU1033_LARGE_INTESTINE | 46645114 | 46645296 | 46645262 | 46645262 | Missense_Mutation | C | T | p.R533Q |
| CP66MEL_SKIN | 46690055 | 46690157 | 46690068 | 46690068 | Missense_Mutation | G | A | p.P517L |
| SNU1040_LARGE_INTESTINE | 46808367 | 46808545 | 46808373 | 46808373 | Missense_Mutation | T | G | p.E373D |
| SCH_STOMACH | 46808367 | 46808545 | 46808376 | 46808376 | Missense_Mutation | C | T | p.M372I |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46808367 | 46808545 | 46808383 | 46808383 | Missense_Mutation | G | T | p.T370K |
| NCIH250_LUNG | 46808367 | 46808545 | 46808459 | 46808459 | Missense_Mutation | A | T | p.S345T |
| EFO27_OVARY | 46812804 | 46812986 | 46812929 | 46812929 | Missense_Mutation | G | A | p.P274L |
| JHUEM3_ENDOMETRIUM | 46812804 | 46812986 | 46812930 | 46812930 | Missense_Mutation | G | A | p.P274S |
| KYSE30_OESOPHAGUS | 46812804 | 46812986 | 46812930 | 46812930 | Missense_Mutation | G | A | p.P274S |
| COLO678_LARGE_INTESTINE | 46812804 | 46812986 | 46812935 | 46812935 | Missense_Mutation | G | C | p.A272G |
| DMS53_LUNG | 46812804 | 46812986 | 46812935 | 46812935 | Missense_Mutation | G | C | p.A272G |
| HCT15_LARGE_INTESTINE | 46812804 | 46812986 | 46812935 | 46812935 | Missense_Mutation | G | C | p.A272G |
| NCIH2023_LUNG | 46858234 | 46858376 | 46858284 | 46858284 | Missense_Mutation | T | A | p.Q238L |
| HT115_LARGE_INTESTINE | 46858234 | 46858376 | 46858349 | 46858349 | Missense_Mutation | C | A | p.K216N |
| SNU81_LARGE_INTESTINE | 46860098 | 46860223 | 46860196 | 46860196 | Missense_Mutation | T | A | p.E174D |
| NCIH748_LUNG | 46860098 | 46860223 | 46860205 | 46860205 | Missense_Mutation | T | C | p.I171M |
| NCIH446_LUNG | 46906035 | 46906128 | 46906096 | 46906096 | Missense_Mutation | C | T | p.A76T |
| OVMIU_OVARY | 46906035 | 46906128 | 46906126 | 46906126 | Missense_Mutation | C | T | p.E66K |
| LOVO_LARGE_INTESTINE | 46917963 | 46918015 | 46918013 | 46918013 | Missense_Mutation | C | T | p.S48N |
| SKLU1_LUNG | 46956625 | 46956817 | 46956652 | 46956652 | Missense_Mutation | G | A | p.S38L |
| PLCPRF5_LIVER | 46956625 | 46956817 | 46956683 | 46956683 | Missense_Mutation | C | G | p.E28Q |
| SNU1040_LARGE_INTESTINE | 46956625 | 46956817 | 46956737 | 46956737 | Missense_Mutation | C | T | p.D10N |
| CAMA1_BREAST | 46956625 | 46956817 | 46956745 | 46956745 | Missense_Mutation | C | G | p.R7T |
| SNU81_LARGE_INTESTINE | 46645114 | 46645296 | 46645158 | 46645158 | Nonsense_Mutation | G | A | p.R568* |
| SISO_CERVIX | 46860098 | 46860223 | 46860108 | 46860108 | Nonsense_Mutation | G | A | p.R204* |
| HEC1A_ENDOMETRIUM | 46860098 | 46860223 | 46860108 | 46860108 | Nonsense_Mutation | G | A | p.R204* |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46860098 | 46860223 | 46860108 | 46860108 | Nonsense_Mutation | G | A | p.R204* |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 46860098 | 46860223 | 46860108 | 46860108 | Nonsense_Mutation | G | A | p.R204* |
| HEC251_ENDOMETRIUM | 46906035 | 46906128 | 46906063 | 46906063 | Nonsense_Mutation | C | A | p.E87* |
| HCT15_LARGE_INTESTINE | 46812804 | 46812986 | 46812804 | 46812804 | Splice_Site | C | A | p.D316Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DYM |
| 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_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENST00000581409.1 | BLCA | rs12456170 | chr18:46920025 | A/C | 1.30e-05 |
| exon_skip_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENST00000581409.1 | HNSC | rs12456170 | chr18:46920025 | A/C | 5.90e-05 |
| exon_skip_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENST00000581409.1 | BRCA | rs12456170 | chr18:46920025 | A/C | 8.52e-05 |
| exon_skip_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENST00000581409.1 | LUSC | rs12456170 | chr18:46920025 | A/C | 1.93e-04 |
| exon_skip_299223 | 18 | 46917989:46918015:46920014:46920112:46956624:46956797 | 46920014:46920112 | ENST00000581409.1 | TGCT | rs12456170 | chr18:46920025 | A/C | 7.26e-04 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENST00000579058.1 | BLCA | rs12456170 | chr18:46920025 | A/C | 1.30e-05 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENST00000579058.1 | HNSC | rs12456170 | chr18:46920025 | A/C | 5.90e-05 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENST00000579058.1 | BRCA | rs12456170 | chr18:46920025 | A/C | 8.52e-05 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENST00000579058.1 | LUSC | rs12456170 | chr18:46920025 | A/C | 1.93e-04 |
| exon_skip_299222 | 18 | 46917989:46918015:46920014:46920112:46944304:46944427 | 46920014:46920112 | ENST00000579058.1 | TGCT | rs12456170 | chr18:46920025 | A/C | 7.26e-04 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000582095.1 | BLCA | rs113698074 | chr18:46944322 | G/C | 1.30e-05 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000582095.1 | HNSC | rs113698074 | chr18:46944322 | G/C | 5.90e-05 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000582095.1 | BRCA | rs113698074 | chr18:46944322 | G/C | 6.34e-05 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000582095.1 | LUSC | rs113698074 | chr18:46944322 | G/C | 1.93e-04 |
| exon_skip_299224 | 18 | 46917989:46918015:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000582095.1 | TGCT | rs113698074 | chr18:46944322 | G/C | 7.26e-04 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000579058.1 | BLCA | rs113698074 | chr18:46944322 | G/C | 1.30e-05 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000579058.1 | HNSC | rs113698074 | chr18:46944322 | G/C | 5.90e-05 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000579058.1 | BRCA | rs113698074 | chr18:46944322 | G/C | 6.34e-05 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000579058.1 | LUSC | rs113698074 | chr18:46944322 | G/C | 1.93e-04 |
| exon_skip_299227 | 18 | 46920014:46920112:46944304:46944427:46956624:46956797 | 46944304:46944427 | ENST00000579058.1 | TGCT | rs113698074 | chr18:46944322 | G/C | 7.26e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DYM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DYM |
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RelatedDrugs for DYM |
| 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 DYM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DYM | C3888088 | SMITH-MCCORT DYSPLASIA 1 | 3 | UNIPROT |
| DYM | C0265286 | Dyggve-Melchior-Clausen syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| DYM | C0036341 | Schizophrenia | 1 | PSYGENET |
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