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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 HLA-A |
 Gene summary |
| Gene information | Gene symbol | HLA-A | Gene ID | 3105 |
| Gene name | major histocompatibility complex, class I, A | |
| Synonyms | HLAA | |
| Cytomap | 6p22.1 | |
| Type of gene | protein-coding | |
| Description | HLA class I histocompatibility antigen, A-1 alpha chainLOW QUALITY PROTEIN: HLA class I histocompatibility antigen, A-1 alpha chainMHC class I antigen HLA-A heavy chainleukocyte antigen class I-A | |
| Modification date | 20180523 | |
| UniProtAcc | Q09160 | |
| Context | PubMed: HLA-A [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 HLA-A 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 HLA-A |
| 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 HLA-A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_449028 | 6 | 29910330:29910403:29910533:29910803:29911044:29911320 | 29910533:29910803 | ENSG00000206503.7 | ENST00000376809.5,ENST00000376806.5,ENST00000376802.2,ENST00000396634.1 |
| exon_skip_449033 | 6 | 29910645:29910803:29911044:29911320:29911898:29911945 | 29911044:29911320 | ENSG00000206503.7 | ENST00000376809.5,ENST00000376806.5,ENST00000376802.2,ENST00000396634.1 |
| exon_skip_449061 | 6 | 29911309:29911320:29911898:29912174:29912276:29912393 | 29911898:29912174 | ENSG00000206503.7 | ENST00000479320.1,ENST00000376809.5,ENST00000496081.1,ENST00000376806.5,ENST00000495183.1,ENST00000461903.1,ENST00000396634.1 |
| exon_skip_449138 | 6 | 29912143:29912174:29912276:29912393:29912835:29912868 | 29912276:29912393 | ENSG00000206503.7 | ENST00000479320.1,ENST00000376809.5,ENST00000396634.1 |
| exon_skip_449139 | 6 | 29911898:29912174:29912276:29912393:29912839:29912868 | 29912276:29912393 | ENSG00000206503.7 | ENST00000495183.1 |
| exon_skip_449146 | 6 | 29912143:29912174:29912276:29912411:29912835:29912868 | 29912276:29912411 | ENSG00000206503.7 | ENST00000376806.5,ENST00000461903.1 |
| exon_skip_449148 | 6 | 29911898:29912174:29912276:29912868:29913010:29913058 | 29912276:29912868 | ENSG00000206503.7 | ENST00000496081.1 |
| exon_skip_449174 | 6 | 29912278:29912393:29912835:29912868:29913010:29913058 | 29912835:29912868 | ENSG00000206503.7 | ENST00000479320.1,ENST00000376809.5,ENST00000396634.1 |
| exon_skip_449177 | 6 | 29912278:29912393:29912839:29912868:29913010:29913058 | 29912839:29912868 | ENSG00000206503.7 | ENST00000495183.1 |
| exon_skip_449184 | 6 | 29912839:29912868:29913010:29913058:29913227:29913660 | 29913010:29913058 | ENSG00000206503.7 | ENST00000376809.5,ENST00000496081.1,ENST00000376806.5,ENST00000495183.1,ENST00000396634.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HLA-A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_449028 | 6 | 29910330:29910403:29910533:29910803:29911044:29911320 | 29910533:29910803 | ENSG00000206503.7 | ENST00000396634.1,ENST00000376806.5,ENST00000376809.5,ENST00000376802.2 |
| exon_skip_449033 | 6 | 29910645:29910803:29911044:29911320:29911898:29911945 | 29911044:29911320 | ENSG00000206503.7 | ENST00000396634.1,ENST00000376806.5,ENST00000376809.5,ENST00000376802.2 |
| exon_skip_449061 | 6 | 29911309:29911320:29911898:29912174:29912276:29912393 | 29911898:29912174 | ENSG00000206503.7 | ENST00000396634.1,ENST00000376806.5,ENST00000376809.5,ENST00000496081.1,ENST00000495183.1,ENST00000479320.1,ENST00000461903.1 |
| exon_skip_449138 | 6 | 29912143:29912174:29912276:29912393:29912835:29912868 | 29912276:29912393 | ENSG00000206503.7 | ENST00000396634.1,ENST00000376809.5,ENST00000479320.1 |
| exon_skip_449139 | 6 | 29911898:29912174:29912276:29912393:29912839:29912868 | 29912276:29912393 | ENSG00000206503.7 | ENST00000495183.1 |
| exon_skip_449146 | 6 | 29912143:29912174:29912276:29912411:29912835:29912868 | 29912276:29912411 | ENSG00000206503.7 | ENST00000376806.5,ENST00000461903.1 |
| exon_skip_449148 | 6 | 29911898:29912174:29912276:29912868:29913010:29913058 | 29912276:29912868 | ENSG00000206503.7 | ENST00000496081.1 |
| exon_skip_449174 | 6 | 29912278:29912393:29912835:29912868:29913010:29913058 | 29912835:29912868 | ENSG00000206503.7 | ENST00000396634.1,ENST00000376809.5,ENST00000479320.1 |
| exon_skip_449177 | 6 | 29912278:29912393:29912839:29912868:29913010:29913058 | 29912839:29912868 | ENSG00000206503.7 | ENST00000495183.1 |
| exon_skip_449184 | 6 | 29912839:29912868:29913010:29913058:29913227:29913660 | 29913010:29913058 | ENSG00000206503.7 | ENST00000396634.1,ENST00000376806.5,ENST00000376809.5,ENST00000496081.1,ENST00000495183.1 |
| 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 HLA-A |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for HLA-A |
| 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 |
| 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 |
| 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 HLA-A |
| - 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 |
| CESC | TCGA-EA-A3QE-01 | exon_skip_449028 | 29910534 | 29910803 | 29910553 | 29910556 | Frame_Shift_Del | TTTC | - | p.F32fs |
| DLBC | TCGA-GS-A9TZ-01 | exon_skip_449028 | 29910534 | 29910803 | 29910559 | 29910565 | Frame_Shift_Del | CACATCC | - | p.33_35del |
| COAD | TCGA-D5-6541-01 | exon_skip_449028 | 29910534 | 29910803 | 29910570 | 29910574 | Frame_Shift_Del | CCCGG | - | p.37_38del |
| OV | TCGA-13-1509-01 | exon_skip_449028 | 29910534 | 29910803 | 29910582 | 29910597 | Frame_Shift_Del | GCGGGGAGCCCCGCTT | - | p.R41fs |
| BLCA | TCGA-DK-A3WW-01 | exon_skip_449028 | 29910534 | 29910803 | 29910640 | 29910640 | Frame_Shift_Del | C | - | p.F60fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_449028 | 29910534 | 29910803 | 29910742 | 29910743 | Frame_Shift_Del | GT | - | p.94_94del |
| HNSC | TCGA-CR-6467-01 | exon_skip_449033 | 29911045 | 29911320 | 29911160 | 29911179 | Frame_Shift_Del | CCTGCGCTCTTGGACCGCGG | - | p.D153fs |
| HNSC | TCGA-CR-6467-01 | exon_skip_449033 | 29911045 | 29911320 | 29911160 | 29911179 | Frame_Shift_Del | CCTGCGCTCTTGGACCGCGG | - | p.DLRSWTAA153fs |
| LUAD | TCGA-55-7283-01 | exon_skip_449033 | 29911045 | 29911320 | 29911171 | 29911171 | Frame_Shift_Del | G | - | p.W157fs |
| ACC | TCGA-OR-A5KQ-01 | exon_skip_449033 | 29911045 | 29911320 | 29911239 | 29911261 | Frame_Shift_Del | TTGAGAGCCTACCTGGATGGCAC | - | p.179_187del |
| UCEC | TCGA-A5-A0G5-01 | exon_skip_449033 | 29911045 | 29911320 | 29911319 | 29911319 | Frame_Shift_Del | G | - | p.D207_splice |
| BRCA | TCGA-A2-A04P-01 | exon_skip_449061 | 29911899 | 29912174 | 29912029 | 29912029 | Frame_Shift_Del | G | - | p.D251fs |
| BRCA | TCGA-C8-A12X-01 | exon_skip_449061 | 29911899 | 29912174 | 29912029 | 29912029 | Frame_Shift_Del | G | - | p.D251fs |
| COAD | TCGA-AM-5821-01 | exon_skip_449061 | 29911899 | 29912174 | 29912029 | 29912029 | Frame_Shift_Del | G | - | p.Q250fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_449061 | 29911899 | 29912174 | 29912060 | 29912060 | Frame_Shift_Del | G | - | p.G261fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_449061 | 29911899 | 29912174 | 29912156 | 29912156 | Frame_Shift_Del | C | - | p.K292fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_449184 | 29913011 | 29913058 | 29913055 | 29913055 | Frame_Shift_Del | A | - | p.K364fs |
| HNSC | TCGA-HD-A4C1-01 | exon_skip_449028 | 29910534 | 29910803 | 29910589 | 29910590 | Frame_Shift_Ins | - | C | p.DP43fs |
| ESCA | TCGA-L5-A88W-01 | exon_skip_449028 | 29910534 | 29910803 | 29910684 | 29910685 | Frame_Shift_Ins | - | GATA | p.E77fs |
| ESCA | TCGA-L5-A88W-01 | exon_skip_449028 | 29910534 | 29910803 | 29910684 | 29910685 | Frame_Shift_Ins | - | GATA | p.Y75fs |
| HNSC | TCGA-RS-A6TO-01 | exon_skip_449028 | 29910534 | 29910803 | 29910692 | 29910693 | Frame_Shift_Ins | - | A | p.G78fs |
| STAD | TCGA-F1-6874-01 | exon_skip_449033 | 29911045 | 29911320 | 29911091 | 29911092 | Frame_Shift_Ins | - | G | p.D130fs |
| CESC | TCGA-C5-A1MQ-01 | exon_skip_449061 | 29911899 | 29912174 | 29911899 | 29911900 | Frame_Shift_Ins | - | C | p.K210fs |
| CESC | TCGA-EK-A2PL-01 | exon_skip_449061 | 29911899 | 29912174 | 29911899 | 29911900 | Frame_Shift_Ins | - | C | p.K210fs |
| LIHC | TCGA-DD-A11A-01 | exon_skip_449061 | 29911899 | 29912174 | 29911899 | 29911900 | Frame_Shift_Ins | - | C | p.D207fs |
| HNSC | TCGA-BA-6868-01 | exon_skip_449061 | 29911899 | 29912174 | 29911958 | 29911959 | Frame_Shift_Ins | - | GC | p.C227fs |
| HNSC | TCGA-BA-6868-01 | exon_skip_449061 | 29911899 | 29912174 | 29911958 | 29911959 | Frame_Shift_Ins | - | GC | p.L227fs |
| STAD | TCGA-HU-8602-01 | exon_skip_449061 | 29911899 | 29912174 | 29912081 | 29912082 | Frame_Shift_Ins | - | G | p.W268fs |
| LIHC | TCGA-DD-A1EF-01 | exon_skip_449146 | 29912277 | 29912411 | 29912395 | 29912396 | Frame_Shift_Ins | - | GG | p.R339fs |
| LIHC | TCGA-DD-A1EF-01 | exon_skip_449148 | 29912277 | 29912868 | 29912395 | 29912396 | Frame_Shift_Ins | - | GG | p.R339fs |
| CESC | TCGA-DR-A0ZM-01 | exon_skip_449028 | 29910534 | 29910803 | 29910587 | 29910587 | Nonsense_Mutation | G | T | p.E43* |
| HNSC | TCGA-CV-A6K2-01 | exon_skip_449028 | 29910534 | 29910803 | 29910587 | 29910587 | Nonsense_Mutation | G | T | p.E43* |
| HNSC | TCGA-D6-A6EK-01 | exon_skip_449028 | 29910534 | 29910803 | 29910587 | 29910587 | Nonsense_Mutation | G | T | p.E43* |
| LUAD | TCGA-55-7903-01 | exon_skip_449028 | 29910534 | 29910803 | 29910587 | 29910587 | Nonsense_Mutation | G | T | p.E43* |
| HNSC | TCGA-CV-7099-01 | exon_skip_449028 | 29910534 | 29910803 | 29910684 | 29910684 | Nonsense_Mutation | G | A | p.W75* |
| COAD | TCGA-AA-3492-01 | exon_skip_449028 | 29910534 | 29910803 | 29910692 | 29910692 | Nonsense_Mutation | C | T | p.Q78X |
| CESC | TCGA-JW-A5VL-01 | exon_skip_449028 | 29910534 | 29910803 | 29910744 | 29910744 | Nonsense_Mutation | C | G | p.S95* |
| CESC | TCGA-C5-A1BF-01 | exon_skip_449028 | 29910534 | 29910803 | 29910797 | 29910797 | Nonsense_Mutation | G | T | p.E113* |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_449028 | 29910534 | 29910803 | 29910797 | 29910797 | Nonsense_Mutation | G | T | p.E113* |
| HNSC | TCGA-T3-A92M-01 | exon_skip_449028 | 29910534 | 29910803 | 29910797 | 29910797 | Nonsense_Mutation | G | T | p.E113* |
| LUSC | TCGA-18-3419-01 | exon_skip_449033 | 29911045 | 29911320 | 29911087 | 29911087 | Nonsense_Mutation | C | A | p.S129* |
| HNSC | TCGA-CV-6937-01 | exon_skip_449033 | 29911045 | 29911320 | 29911172 | 29911172 | Nonsense_Mutation | G | A | p.W157* |
| LUAD | TCGA-50-6597-01 | exon_skip_449033 | 29911045 | 29911320 | 29911194 | 29911194 | Nonsense_Mutation | C | T | p.Q165* |
| DLBC | TCGA-G8-6909-01 | exon_skip_449033 | 29911045 | 29911320 | 29911213 | 29911213 | Nonsense_Mutation | G | A | p.W171X |
| DLBC | TCGA-G8-6326-01 | exon_skip_449033 | 29911045 | 29911320 | 29911227 | 29911227 | Nonsense_Mutation | G | T | p.E176X |
| STAD | TCGA-D7-A6EZ-01 | exon_skip_449033 | 29911045 | 29911320 | 29911227 | 29911227 | Nonsense_Mutation | G | T | p.E176* |
| STAD | TCGA-D7-A6EZ-01 | exon_skip_449033 | 29911045 | 29911320 | 29911227 | 29911227 | Nonsense_Mutation | G | T | p.E176X |
| COAD | TCGA-AA-3663-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| PCPG | TCGA-SR-A6MS-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| PCPG | TCGA-SR-A6MY-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| READ | TCGA-AF-6136-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| READ | TCGA-F5-6465-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| UVM | TCGA-V4-A9EM-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| UVM | TCGA-VD-AA8O-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| UVM | TCGA-WC-AA9A-01 | exon_skip_449033 | 29911045 | 29911320 | 29911240 | 29911240 | Nonsense_Mutation | T | A | p.L180X |
| CESC | TCGA-Q1-A73O-01 | exon_skip_449033 | 29911045 | 29911320 | 29911302 | 29911302 | Nonsense_Mutation | G | T | p.E201* |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_449061 | 29911899 | 29912174 | 29911960 | 29911960 | Nonsense_Mutation | C | A | p.C227* |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_449061 | 29911899 | 29912174 | 29911960 | 29911960 | Nonsense_Mutation | C | A | p.C227X |
| LUSC | TCGA-66-2786-01 | exon_skip_449061 | 29911899 | 29912174 | 29911963 | 29911963 | Nonsense_Mutation | G | A | p.W228* |
| LUSC | TCGA-37-5819-01 | exon_skip_449061 | 29911899 | 29912174 | 29911978 | 29911978 | Nonsense_Mutation | C | A | p.Y233* |
| LUSC | TCGA-37-5819-01 | exon_skip_449061 | 29911899 | 29912174 | 29912172 | 29912172 | Nonsense_Mutation | G | A | p.W298* |
| COAD | TCGA-AZ-4615-01 | exon_skip_449028 | 29910534 | 29910803 | 29910533 | 29910533 | Splice_Site | G | T | . |
| CESC | TCGA-EX-A69L-01 | exon_skip_449061 | 29911899 | 29912174 | 29911898 | 29911898 | Splice_Site | G | A | e4-1 |
| LUSC | TCGA-21-5782-01 | exon_skip_449061 | 29911899 | 29912174 | 29911898 | 29911898 | Splice_Site | G | A | p.D207_splice |
| HNSC | TCGA-CV-6943-01 | exon_skip_449061 | 29911899 | 29912174 | 29912175 | 29912175 | Splice_Site | G | T | p.E299_splice |
| LUSC | TCGA-60-2698-01 | exon_skip_449138 exon_skip_449139 | 29912277 | 29912393 | 29912276 | 29912276 | Splice_Site | G | C | p.E299_splice |
| LUSC | TCGA-60-2698-01 | exon_skip_449146 | 29912277 | 29912411 | 29912276 | 29912276 | Splice_Site | G | C | p.E299_splice |
| LUSC | TCGA-60-2698-01 | exon_skip_449148 | 29912277 | 29912868 | 29912276 | 29912276 | Splice_Site | G | C | p.E299_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 |
| IM95_STOMACH | 29910534 | 29910803 | 29910590 | 29910590 | Frame_Shift_Del | C | - | p.P44fs |
| CW2_LARGE_INTESTINE | 29910534 | 29910803 | 29910590 | 29910590 | Frame_Shift_Del | C | - | p.P44fs |
| NCIH2286_LUNG | 29910534 | 29910803 | 29910675 | 29910675 | Frame_Shift_Del | G | - | p.R72fs |
| OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911045 | 29911320 | 29911166 | 29911173 | Frame_Shift_Del | CTCTTGGA | - | p.SWT156fs |
| PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29910534 | 29910803 | 29910739 | 29910740 | Frame_Shift_Ins | - | T | p.Q94fs |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29912277 | 29912411 | 29912335 | 29912349 | In_Frame_Del | TGGAGCTGTGATCAC | - | p.GAVIT319del |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29912277 | 29912868 | 29912335 | 29912349 | In_Frame_Del | TGGAGCTGTGATCAC | - | p.GAVIT319del |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29912277 | 29912393 | 29912335 | 29912349 | In_Frame_Del | TGGAGCTGTGATCAC | - | p.GAVIT319del |
| A388_SKIN | 29910534 | 29910803 | 29910596 | 29910597 | In_Frame_Ins | - | TCATCG | p.46_47insIV |
| LI7_LIVER | 29910534 | 29910803 | 29910614 | 29910614 | Missense_Mutation | G | C | p.V52L |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29910534 | 29910803 | 29910692 | 29910693 | Missense_Mutation | CA | TG | p.Q78W |
| NCIH513_PLEURA | 29910534 | 29910803 | 29910695 | 29910695 | Missense_Mutation | G | A | p.E79K |
| MERO84_LUNG | 29910534 | 29910803 | 29910698 | 29910699 | Missense_Mutation | GG | AA | p.G80K |
| MCC26_SKIN | 29910534 | 29910803 | 29910704 | 29910704 | Missense_Mutation | G | A | p.E82K |
| SCH_STOMACH | 29910534 | 29910803 | 29910756 | 29910756 | Missense_Mutation | G | A | p.R99Q |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911045 | 29911320 | 29911125 | 29911125 | Missense_Mutation | T | G | p.Y142D |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911045 | 29911320 | 29911146 | 29911146 | Missense_Mutation | G | C | p.A149P |
| HEC108_ENDOMETRIUM | 29911045 | 29911320 | 29911159 | 29911159 | Missense_Mutation | A | G | p.D153G |
| LS411N_LARGE_INTESTINE | 29911045 | 29911320 | 29911170 | 29911170 | Missense_Mutation | T | C | p.W157R |
| HEC108_ENDOMETRIUM | 29911045 | 29911320 | 29911180 | 29911180 | Missense_Mutation | C | T | p.A160V |
| CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911045 | 29911320 | 29911186 | 29911186 | Missense_Mutation | T | C | p.M162T |
| LB996RCC_KIDNEY | 29911045 | 29911320 | 29911282 | 29911282 | Missense_Mutation | G | T | p.R194I |
| AN3CA_ENDOMETRIUM | 29911045 | 29911320 | 29911302 | 29911302 | Missense_Mutation | G | A | p.E201K |
| OAW42_OVARY | 29911045 | 29911320 | 29911302 | 29911302 | Missense_Mutation | G | A | p.E201K |
| SNU520_STOMACH | 29911045 | 29911320 | 29911302 | 29911302 | Missense_Mutation | G | A | p.E201K |
| SH4_SKIN | 29911899 | 29912174 | 29911962 | 29911962 | Missense_Mutation | G | T | p.W228L |
| COLO201_LARGE_INTESTINE | 29911899 | 29912174 | 29911965 | 29911965 | Missense_Mutation | C | T | p.A229V |
| COLO205_LARGE_INTESTINE | 29911899 | 29912174 | 29911965 | 29911965 | Missense_Mutation | C | T | p.A229V |
| SNU308_BILIARY_TRACT | 29911899 | 29912174 | 29912057 | 29912057 | Missense_Mutation | G | A | p.A260T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911899 | 29912174 | 29912069 | 29912069 | Missense_Mutation | A | G | p.T264A |
| SKUT1_SOFT_TISSUE | 29911899 | 29912174 | 29912128 | 29912128 | Missense_Mutation | C | G | p.C283W |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911899 | 29912174 | 29912141 | 29912141 | Missense_Mutation | G | A | p.E288K |
| GP2D_LARGE_INTESTINE | 29911899 | 29912174 | 29912150 | 29912150 | Missense_Mutation | C | T | p.P291S |
| GP5D_LARGE_INTESTINE | 29911899 | 29912174 | 29912150 | 29912150 | Missense_Mutation | C | T | p.P291S |
| SNGM_ENDOMETRIUM | 29912277 | 29912411 | 29912318 | 29912318 | Missense_Mutation | G | A | p.A313T |
| SNGM_ENDOMETRIUM | 29912277 | 29912868 | 29912318 | 29912318 | Missense_Mutation | G | A | p.A313T |
| SNGM_ENDOMETRIUM | 29912277 | 29912393 | 29912318 | 29912318 | Missense_Mutation | G | A | p.A313T |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29912277 | 29912411 | 29912337 | 29912337 | Missense_Mutation | G | T | p.G319V |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29912277 | 29912868 | 29912337 | 29912337 | Missense_Mutation | G | T | p.G319V |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29912277 | 29912393 | 29912337 | 29912337 | Missense_Mutation | G | T | p.G319V |
| NCIH810_LUNG | 29912277 | 29912411 | 29912355 | 29912355 | Missense_Mutation | C | A | p.A325D |
| NCIH810_LUNG | 29912277 | 29912868 | 29912355 | 29912355 | Missense_Mutation | C | A | p.A325D |
| NCIH810_LUNG | 29912277 | 29912393 | 29912355 | 29912355 | Missense_Mutation | C | A | p.A325D |
| BICR22_UPPER_AERODIGESTIVE_TRACT | 29910534 | 29910803 | 29910587 | 29910587 | Nonsense_Mutation | G | T | p.E43* |
| TE9_OESOPHAGUS | 29910534 | 29910803 | 29910784 | 29910784 | Nonsense_Mutation | C | G | p.Y108* |
| SW756_CERVIX | 29910534 | 29910803 | 29910797 | 29910797 | Nonsense_Mutation | G | T | p.E113* |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29911899 | 29912174 | 29911899 | 29911899 | Splice_Site | A | C | p.D207A |
| DV90_LUNG | 29911899 | 29912174 | 29911899 | 29911900 | Splice_Site | - | C | p.DP207fs |
| SNU520_STOMACH | 29911899 | 29912174 | 29911899 | 29911900 | Splice_Site | - | C | p.DP207fs |
| DU145_PROSTATE | 29911899 | 29912174 | 29911899 | 29911900 | Splice_Site | - | C | p.DP207fs |
| HPAC_PANCREAS | 29911899 | 29912174 | 29911899 | 29911900 | Splice_Site | - | C | p.DP207fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HLA-A |
| 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 HLA-A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HLA-A |
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RelatedDrugs for HLA-A |
| 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 HLA-A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HLA-A | C0036341 | Schizophrenia | 4 | PSYGENET |
| HLA-A | C0004352 | Autistic Disorder | 1 | CTD_human |
| HLA-A | C0017638 | Glioma | 1 | CTD_human |
| HLA-A | C0026764 | Multiple Myeloma | 1 | CTD_human |
| HLA-A | C0030491 | Parapsoriasis | 1 | CTD_human |
| HLA-A | C0036349 | Paranoid Schizophrenia | 1 | PSYGENET |
| HLA-A | C0040034 | Thrombocytopenia | 1 | CTD_human |
| HLA-A | C1456784 | Paranoia | 1 | PSYGENET |
| HLA-A | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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