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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 KDM6A |
 Gene summary |
| Gene information | Gene symbol | KDM6A | Gene ID | 7403 |
| Gene name | lysine demethylase 6A | |
| Synonyms | KABUK2|UTX|bA386N14.2 | |
| Cytomap | Xp11.3 | |
| Type of gene | protein-coding | |
| Description | lysine-specific demethylase 6AbA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))histone demethylase UTXlysine (K)-specific demethylase 6Aubiquitously transcribed tetratricopeptide repeat protein X-linkedubiquito | |
| Modification date | 20180523 | |
| UniProtAcc | O15550 | |
| Context | PubMed: KDM6A [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 KDM6A 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 KDM6A |
| 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 KDM6A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509864 | X | 44733169:44733233:44820528:44820637:44833910:44833960 | 44820528:44820637 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000543216.1,ENST00000536777.1,ENST00000475233.1 |
| exon_skip_509869 | X | 44820528:44820637:44833910:44833960:44870205:44870264 | 44833910:44833960 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000543216.1,ENST00000536777.1,ENST00000475233.1 |
| exon_skip_509871 | X | 44833910:44833960:44870205:44870264:44879854:44879975 | 44870205:44870264 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000543216.1,ENST00000536777.1,ENST00000475233.1 |
| exon_skip_509874 | X | 44870205:44870264:44879854:44879975:44894175:44894230 | 44879854:44879975 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000543216.1,ENST00000536777.1 |
| exon_skip_509875 | X | 44896899:44896934:44910953:44911047:44913073:44913200 | 44910953:44911047 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000543216.1,ENST00000536777.1 |
| exon_skip_509876 | X | 44913073:44913200:44918250:44918349:44918491:44918711 | 44918250:44918349 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000543216.1,ENST00000536777.1 |
| exon_skip_509879 | X | 44918590:44918711:44919266:44919401:44920568:44920664 | 44919266:44919401 | ENSG00000147050.10 | ENST00000451692.1,ENST00000377967.4 |
| exon_skip_509880 | X | 44918590:44918711:44919853:44920009:44920568:44920664 | 44919853:44920009 | ENSG00000147050.10 | ENST00000382899.4 |
| exon_skip_509881 | X | 44919301:44919401:44919853:44920009:44920568:44920664 | 44919853:44920009 | ENSG00000147050.10 | ENST00000433797.1 |
| exon_skip_509882 | X | 44920568:44920664:44921891:44921993:44922666:44922921 | 44921891:44921993 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000414389.1,ENST00000433797.1,ENST00000536777.1 |
| exon_skip_509883 | X | 44937644:44937750:44938390:44938596:44941820:44941885 | 44938390:44938596 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000414389.1,ENST00000543216.1,ENST00000433797.1,ENST00000536777.1 |
| exon_skip_509885 | X | 44942704:44942853:44945109:44945224:44948987:44949175 | 44945109:44945224 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000414389.1,ENST00000543216.1,ENST00000433797.1,ENST00000536777.1 |
| exon_skip_509887 | X | 44948987:44949175:44949967:44950109:44966654:44966781 | 44949967:44950109 | ENSG00000147050.10 | ENST00000377967.4,ENST00000382899.4,ENST00000414389.1,ENST00000543216.1,ENST00000433797.1,ENST00000536777.1 |
| exon_skip_509888 | X | 44950061:44950109:44965786:44965894:44966654:44966781 | 44965786:44965894 | ENSG00000147050.10 | ENST00000431196.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KDM6A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509864 | X | 44733169:44733233:44820528:44820637:44833910:44833960 | 44820528:44820637 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1,ENST00000475233.1 |
| exon_skip_509869 | X | 44820528:44820637:44833910:44833960:44870205:44870264 | 44833910:44833960 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1,ENST00000475233.1 |
| exon_skip_509871 | X | 44833910:44833960:44870205:44870264:44879854:44879975 | 44870205:44870264 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1,ENST00000475233.1 |
| exon_skip_509874 | X | 44870205:44870264:44879854:44879975:44894175:44894230 | 44879854:44879975 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1 |
| exon_skip_509875 | X | 44896899:44896934:44910953:44911047:44913073:44913200 | 44910953:44911047 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1 |
| exon_skip_509876 | X | 44913073:44913200:44918250:44918349:44918491:44918711 | 44918250:44918349 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1 |
| exon_skip_509879 | X | 44918590:44918711:44919266:44919401:44920568:44920664 | 44919266:44919401 | ENSG00000147050.10 | ENST00000377967.4,ENST00000451692.1 |
| exon_skip_509880 | X | 44918590:44918711:44919853:44920009:44920568:44920664 | 44919853:44920009 | ENSG00000147050.10 | ENST00000382899.4 |
| exon_skip_509881 | X | 44919301:44919401:44919853:44920009:44920568:44920664 | 44919853:44920009 | ENSG00000147050.10 | ENST00000433797.1 |
| exon_skip_509882 | X | 44920568:44920664:44921891:44921993:44922666:44922921 | 44921891:44921993 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000414389.1,ENST00000433797.1 |
| exon_skip_509883 | X | 44937644:44937750:44938390:44938596:44941820:44941885 | 44938390:44938596 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1,ENST00000414389.1,ENST00000433797.1 |
| exon_skip_509885 | X | 44942704:44942853:44945109:44945224:44948987:44949175 | 44945109:44945224 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1,ENST00000414389.1,ENST00000433797.1 |
| exon_skip_509887 | X | 44948987:44949175:44949967:44950109:44966654:44966781 | 44949967:44950109 | ENSG00000147050.10 | ENST00000377967.4,ENST00000536777.1,ENST00000382899.4,ENST00000543216.1,ENST00000414389.1,ENST00000433797.1 |
| exon_skip_509888 | X | 44950061:44950109:44965786:44965894:44966654:44966781 | 44965786:44965894 | ENSG00000147050.10 | ENST00000431196.1 |
| 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 KDM6A |
| 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 |
| ENST00000377967 | 44820528 | 44820637 | Frame-shift |
| ENST00000377967 | 44833910 | 44833960 | Frame-shift |
| ENST00000377967 | 44870205 | 44870264 | Frame-shift |
| ENST00000377967 | 44879854 | 44879975 | Frame-shift |
| ENST00000377967 | 44910953 | 44911047 | Frame-shift |
| ENST00000377967 | 44938390 | 44938596 | Frame-shift |
| ENST00000377967 | 44945109 | 44945224 | Frame-shift |
| ENST00000377967 | 44949967 | 44950109 | Frame-shift |
| ENST00000377967 | 44918250 | 44918349 | In-frame |
| ENST00000377967 | 44919266 | 44919401 | In-frame |
| ENST00000377967 | 44921891 | 44921993 | 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 |
| ENST00000377967 | 44820528 | 44820637 | Frame-shift |
| ENST00000377967 | 44833910 | 44833960 | Frame-shift |
| ENST00000377967 | 44870205 | 44870264 | Frame-shift |
| ENST00000377967 | 44879854 | 44879975 | Frame-shift |
| ENST00000377967 | 44910953 | 44911047 | Frame-shift |
| ENST00000377967 | 44938390 | 44938596 | Frame-shift |
| ENST00000377967 | 44945109 | 44945224 | Frame-shift |
| ENST00000377967 | 44949967 | 44950109 | Frame-shift |
| ENST00000377967 | 44918250 | 44918349 | In-frame |
| ENST00000377967 | 44919266 | 44919401 | In-frame |
| ENST00000377967 | 44921891 | 44921993 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KDM6A |
| 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 |
| ENST00000377967 | 5455 | 1401 | 44918250 | 44918349 | 917 | 1015 | 292 | 324 |
| ENST00000377967 | 5455 | 1401 | 44919266 | 44919401 | 1236 | 1370 | 398 | 443 |
| ENST00000377967 | 5455 | 1401 | 44921891 | 44921993 | 1467 | 1568 | 475 | 509 |
| 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 |
| ENST00000377967 | 5455 | 1401 | 44918250 | 44918349 | 917 | 1015 | 292 | 324 |
| ENST00000377967 | 5455 | 1401 | 44919266 | 44919401 | 1236 | 1370 | 398 | 443 |
| ENST00000377967 | 5455 | 1401 | 44921891 | 44921993 | 1467 | 1568 | 475 | 509 |
| 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 |
| O15550 | 292 | 324 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 292 | 324 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 292 | 324 | 284 | 317 | Repeat | Note=TPR 6 |
| O15550 | 292 | 324 | 318 | 351 | Repeat | Note=TPR 7 |
| O15550 | 398 | 443 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 398 | 443 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 475 | 509 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 475 | 509 | 497 | 497 | Natural variant | ID=VAR_014493;Note=Q->H;Dbxref=dbSNP:rs6530 |
| O15550 | 475 | 509 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O15550 | 292 | 324 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 292 | 324 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 292 | 324 | 284 | 317 | Repeat | Note=TPR 6 |
| O15550 | 292 | 324 | 318 | 351 | Repeat | Note=TPR 7 |
| O15550 | 398 | 443 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 398 | 443 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 475 | 509 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 475 | 509 | 497 | 497 | Natural variant | ID=VAR_014493;Note=Q->H;Dbxref=dbSNP:rs6530 |
| O15550 | 475 | 509 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for KDM6A |
| - 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. |
KDM6A_HNSC_exon_skip_509871_psi_boxplot.png |
KDM6A_KIRP_exon_skip_509871_psi_boxplot.png |
KDM6A_STAD_exon_skip_509883_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 |
| BLCA | TCGA-E7-A97Q-01 | exon_skip_509864 | 44820529 | 44820637 | 44820536 | 44820536 | Frame_Shift_Del | G | - | p.R78fs |
| BLCA | TCGA-BT-A20T-01 | exon_skip_509864 | 44820529 | 44820637 | 44820575 | 44820575 | Frame_Shift_Del | T | - | p.V91fs |
| BLCA | TCGA-BT-A2LD-01 | exon_skip_509869 | 44833911 | 44833960 | 44833924 | 44833924 | Frame_Shift_Del | C | - | p.Y116fs |
| KIRP | TCGA-A4-7584-01 | exon_skip_509871 | 44870206 | 44870264 | 44870257 | 44870257 | Frame_Shift_Del | T | - | p.A145fs |
| KIRP | TCGA-A4-7584-01 | exon_skip_509871 | 44870206 | 44870264 | 44870257 | 44870257 | Frame_Shift_Del | T | - | p.F146fs |
| PAAD | TCGA-2L-AAQE-01 | exon_skip_509875 | 44910954 | 44911047 | 44911012 | 44911030 | Frame_Shift_Del | CTGCACAAGTAAAAGCAAC | - | p.SAQVKAT238fs |
| BRCA | TCGA-A8-A06Y-01 | exon_skip_509875 | 44910954 | 44911047 | 44911035 | 44911035 | Frame_Shift_Del | T | - | p.L246fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509876 | 44918251 | 44918349 | 44918283 | 44918283 | Frame_Shift_Del | C | - | p.A303fs |
| KIRP | TCGA-IZ-A6M8-01 | exon_skip_509876 | 44918251 | 44918349 | 44918293 | 44918293 | Frame_Shift_Del | T | - | p.S306fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509876 | 44918251 | 44918349 | 44918312 | 44918312 | Frame_Shift_Del | A | - | p.K313fs |
| STAD | TCGA-BR-8687-01 | exon_skip_509883 | 44938391 | 44938596 | 44938407 | 44938480 | Frame_Shift_Del | TACTAAAACTTTGGTGGAAGCTAACAATGAACATATGGTAGAAGTGAGGACACAGTTGTTGCAGCCAGCAGATG | - | p.985_1009del |
| UCEC | TCGA-A5-A0R6-01 | exon_skip_509883 | 44938391 | 44938596 | 44938474 | 44938502 | Frame_Shift_Del | GCAGATGAAAACTGGGATCCCACTGGAAC | - | p.A1008fs |
| UCEC | TCGA-A5-A0R6-01 | exon_skip_509883 | 44938391 | 44938596 | 44938474 | 44938502 | Frame_Shift_Del | GCAGATGAAAACTGGGATCCCACTGGAAC | - | p.A1060fs |
| BLCA | TCGA-DK-A1AF-01 | exon_skip_509883 | 44938391 | 44938596 | 44938507 | 44938507 | Frame_Shift_Del | A | - | p.K1019fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_509885 | 44945110 | 44945224 | 44945192 | 44945192 | Frame_Shift_Del | T | - | p.G1172fs |
| KIRP | TCGA-5P-A9K0-01 | exon_skip_509887 | 44949968 | 44950109 | 44950075 | 44950075 | Frame_Shift_Del | A | - | p.I1281fs |
| BLCA | TCGA-GD-A6C6-01 | exon_skip_509874 | 44879855 | 44879975 | 44879934 | 44879935 | Frame_Shift_Ins | - | TT | p.L175fs |
| BLCA | TCGA-G2-AA3C-01 | exon_skip_509883 | 44938391 | 44938596 | 44938449 | 44938450 | Frame_Shift_Ins | - | GT | p.V1000fs |
| BLCA | TCGA-ZF-AA56-01 | exon_skip_509887 | 44949968 | 44950109 | 44950105 | 44950106 | Frame_Shift_Ins | - | T | p.I1292fs |
| BLCA | TCGA-XF-AAMG-01 | exon_skip_509869 | 44833911 | 44833960 | 44833957 | 44833957 | Nonsense_Mutation | G | A | p.W127* |
| BLCA | TCGA-G2-A2EK-01 | exon_skip_509871 | 44870206 | 44870264 | 44870260 | 44870260 | Nonsense_Mutation | C | T | p.Q147* |
| UCEC | TCGA-AP-A056-01 | exon_skip_509874 | 44879855 | 44879975 | 44879913 | 44879913 | Nonsense_Mutation | G | T | p.E168* |
| HNSC | TCGA-CV-A45Q-01 | exon_skip_509875 | 44910954 | 44911047 | 44910975 | 44910975 | Nonsense_Mutation | G | T | p.E226* |
| BLCA | TCGA-XF-A8HI-01 | exon_skip_509876 | 44918251 | 44918349 | 44918259 | 44918259 | Nonsense_Mutation | C | G | p.S295* |
| BLCA | TCGA-KQ-A41O-01 | exon_skip_509883 | 44938391 | 44938596 | 44938447 | 44938447 | Nonsense_Mutation | G | T | p.E999* |
| BLCA | TCGA-DK-AA6X-01 | exon_skip_509883 | 44938391 | 44938596 | 44938459 | 44938459 | Nonsense_Mutation | C | T | p.Q1003* |
| PRAD | TCGA-V1-A8ML-01 | exon_skip_509883 | 44938391 | 44938596 | 44938585 | 44938585 | Nonsense_Mutation | G | T | p.E1045* |
| BLCA | TCGA-FD-A43X-01 | exon_skip_509885 | 44945110 | 44945224 | 44945115 | 44945115 | Nonsense_Mutation | C | T | p.Q1147* |
| HNSC | TCGA-P3-A6SX-01 | exon_skip_509885 | 44945110 | 44945224 | 44945195 | 44945195 | Nonsense_Mutation | C | A | p.Y1173* |
| HNSC | TCGA-CR-7368-01 | exon_skip_509871 | 44870206 | 44870264 | 44870205 | 44870205 | Splice_Site | G | A | p.N129_splice |
| KIRP | TCGA-HE-7130-01 | exon_skip_509871 | 44870206 | 44870264 | 44870205 | 44870205 | Splice_Site | G | C | . |
| KIRP | TCGA-HE-7130-01 | exon_skip_509871 | 44870206 | 44870264 | 44870205 | 44870205 | Splice_Site | G | C | p.N129_splice |
| LIHC | TCGA-MI-A75I-01 | exon_skip_509871 | 44870206 | 44870264 | 44870266 | 44870266 | Splice_Site | T | G | . |
| PAAD | TCGA-2L-AAQI-01 | exon_skip_509874 | 44879855 | 44879975 | 44879977 | 44879977 | Splice_Site | T | A | . |
| CESC | TCGA-FU-A3NI-01 | exon_skip_509875 | 44910954 | 44911047 | 44911048 | 44911048 | Splice_Site | G | A | e9+1 |
| CESC | TCGA-EK-A2RD-01 | exon_skip_509883 | 44938391 | 44938596 | 44938390 | 44938390 | Splice_Site | G | A | e20-1 |
| HNSC | TCGA-CV-6935-01 | exon_skip_509883 | 44938391 | 44938596 | 44938390 | 44938390 | Splice_Site | G | C | p.D980_splice |
| BLCA | TCGA-DK-A1A6-01 | exon_skip_509887 | 44949968 | 44950109 | 44950105 | 44950111 | Splice_Site | ATTAAGT | - | p.IK1292fs |
| BLCA | TCGA-DK-A1A6-01 | exon_skip_509887 | 44949968 | 44950109 | 44950105 | 44950111 | Splice_Site | ATTAAGT | - | p.K1293_splice |
| BLCA | TCGA-DK-A1A6-06 | exon_skip_509887 | 44949968 | 44950109 | 44950105 | 44950111 | Splice_Site | ATTAAGT | - | p.IK1292fs |
| BLCA | TCGA-DK-A1AG-01 | exon_skip_509887 | 44949968 | 44950109 | 44950110 | 44950110 | Splice_Site | G | - | p.K1293_splice |
| ESCA | TCGA-IG-A51D-01 | exon_skip_509887 | 44949968 | 44950109 | 44950110 | 44950110 | Splice_Site | G | A | . |
| ESCA | TCGA-IG-A51D-01 | exon_skip_509887 | 44949968 | 44950109 | 44950110 | 44950110 | Splice_Site | G | A | e26+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8687-01 |
| Cancer type: STAD | |
| ESID: exon_skip_509883 | |
| Skipped exon start: 44938391 | |
| Skipped exon end: 44938596 | |
| Mutation start: 44938407 | |
| Mutation end: 44938480 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TACTAAAACTTTGGTGGAAGCTAACAATGAACATATGGTAGAAGTGAGGACACAGTTGTTGCAGCCAGCAGATG | |
| Mutation seq: - | |
| AAchange: p.985_1009del | |
exon_skip_509883_STAD_TCGA-BR-8687-01.png | |
 | Sample: TCGA-FU-A3NI-01 |
| Cancer type: CESC | |
| ESID: exon_skip_509875 | |
| Skipped exon start: 44910954 | |
| Skipped exon end: 44911047 | |
| Mutation start: 44911048 | |
| Mutation end: 44911048 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e9+1 | |
exon_skip_509875_CESC_TCGA-FU-A3NI-01.png | |
 | Sample: TCGA-HE-7130-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_509871 | |
| Skipped exon start: 44870206 | |
| Skipped exon end: 44870264 | |
| Mutation start: 44870205 | |
| Mutation end: 44870205 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: . | |
| Sample: TCGA-HE-7130-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_509871 | |
| Skipped exon start: 44870206 | |
| Skipped exon end: 44870264 | |
| Mutation start: 44870205 | |
| Mutation end: 44870205 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.N129_splice | |
exon_skip_22733_KIRP_TCGA-HE-7130-01.png | |
exon_skip_49506_KIRP_TCGA-HE-7130-01.png | |
exon_skip_509871_KIRP_TCGA-HE-7130-01.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 |
| SNUC2A_LARGE_INTESTINE | 44870206 | 44870264 | 44870215 | 44870215 | Frame_Shift_Del | T | - | p.F132fs |
| SNUC2B_LARGE_INTESTINE | 44870206 | 44870264 | 44870215 | 44870215 | Frame_Shift_Del | T | - | p.F132fs |
| SNUC2A_LARGE_INTESTINE | 44945110 | 44945224 | 44945195 | 44945196 | Frame_Shift_Ins | - | T | p.W1174fs |
| SNUC2B_LARGE_INTESTINE | 44945110 | 44945224 | 44945195 | 44945196 | Frame_Shift_Ins | - | T | p.W1174fs |
| ESS1_ENDOMETRIUM | 44820529 | 44820637 | 44820622 | 44820622 | Missense_Mutation | G | A | p.E107K |
| HEC108_ENDOMETRIUM | 44833911 | 44833960 | 44833931 | 44833931 | Missense_Mutation | T | C | p.Y119H |
| HEC151_ENDOMETRIUM | 44833911 | 44833960 | 44833947 | 44833947 | Missense_Mutation | C | T | p.S124F |
| HS281T_FIBROBLAST | 44870206 | 44870264 | 44870249 | 44870249 | Missense_Mutation | A | G | p.Y143C |
| INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44879855 | 44879975 | 44879942 | 44879942 | Missense_Mutation | C | G | p.F177L |
| GP5D_LARGE_INTESTINE | 44938391 | 44938596 | 44938439 | 44938439 | Missense_Mutation | A | G | p.H996R |
| HUH28_BILIARY_TRACT | 44938391 | 44938596 | 44938495 | 44938495 | Missense_Mutation | A | G | p.T1015A |
| NCIH1651_LUNG | 44938391 | 44938596 | 44938537 | 44938537 | Missense_Mutation | C | T | p.H1029Y |
| SNU520_STOMACH | 44949968 | 44950109 | 44949994 | 44949994 | Missense_Mutation | C | T | p.R1255W |
| WM1552C_SKIN | 44833911 | 44833960 | 44833936 | 44833936 | Nonsense_Mutation | C | G | p.Y120* |
| HDQP1_BREAST | 44879855 | 44879975 | 44879904 | 44879904 | Nonsense_Mutation | C | T | p.R165* |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 44879855 | 44879975 | 44879925 | 44879925 | Nonsense_Mutation | C | T | p.R172* |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44949968 | 44950109 | 44950066 | 44950066 | Nonsense_Mutation | C | T | p.R1279* |
| FTC238_THYROID | 44879855 | 44879975 | 44879975 | 44879975 | Splice_Site | G | C | p.K188N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDM6A |
| 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 KDM6A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDM6A |
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RelatedDrugs for KDM6A |
| 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 KDM6A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KDM6A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| KDM6A | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| KDM6A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| KDM6A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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