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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 ITGA8 |
 Gene summary |
| Gene information | Gene symbol | ITGA8 | Gene ID | 8516 |
| Gene name | integrin subunit alpha 8 | |
| Synonyms | - | |
| Cytomap | 10p13 | |
| Type of gene | protein-coding | |
| Description | integrin alpha-8integrin, alpha 8 | |
| Modification date | 20180519 | |
| UniProtAcc | P53708 | |
| Context | PubMed: ITGA8 [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 ITGA8 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 ITGA8 |
| 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 ITGA8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47999 | 10 | 15561288:15561411:15573048:15573150:15590453:15590567 | 15573048:15573150 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48000 | 10 | 15573048:15573150:15590453:15590567:15600072:15600201 | 15590453:15590567 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48002 | 10 | 15600072:15600201:15614209:15614368:15617487:15617593 | 15614209:15614368 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48003 | 10 | 15614209:15614368:15617487:15617593:15628582:15628663 | 15617487:15617593 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48005 | 10 | 15617487:15617593:15628582:15628663:15634223:15634303 | 15628582:15628663 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48006 | 10 | 15628582:15628663:15634223:15634303:15639205:15639298 | 15634223:15634303 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48008 | 10 | 15634223:15634303:15639205:15639298:15646206:15646269 | 15639205:15639298 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48010 | 10 | 15639205:15639298:15646206:15646354:15647722:15647790 | 15646206:15646354 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48011 | 10 | 15649675:15649830:15650233:15650289:15655658:15655766 | 15650233:15650289 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48012 | 10 | 15700997:15701054:15702877:15702921:15713601:15713646 | 15702877:15702921 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48013 | 10 | 15702877:15702921:15713601:15713646:15714622:15714748 | 15713601:15713646 | ENSG00000077943.7 | ENST00000378076.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITGA8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47999 | 10 | 15561288:15561411:15573048:15573150:15590453:15590567 | 15573048:15573150 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48000 | 10 | 15573048:15573150:15590453:15590567:15600072:15600201 | 15590453:15590567 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48002 | 10 | 15600072:15600201:15614209:15614368:15617487:15617593 | 15614209:15614368 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48003 | 10 | 15614209:15614368:15617487:15617593:15628582:15628663 | 15617487:15617593 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48005 | 10 | 15617487:15617593:15628582:15628663:15634223:15634303 | 15628582:15628663 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48006 | 10 | 15628582:15628663:15634223:15634303:15639205:15639298 | 15634223:15634303 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48008 | 10 | 15634223:15634303:15639205:15639298:15646206:15646269 | 15639205:15639298 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48010 | 10 | 15639205:15639298:15646206:15646354:15647722:15647790 | 15646206:15646354 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48011 | 10 | 15649675:15649830:15650233:15650289:15655658:15655766 | 15650233:15650289 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48012 | 10 | 15700997:15701054:15702877:15702921:15713601:15713646 | 15702877:15702921 | ENSG00000077943.7 | ENST00000378076.3 |
| exon_skip_48013 | 10 | 15702877:15702921:15713601:15713646:15714622:15714748 | 15713601:15713646 | ENSG00000077943.7 | ENST00000378076.3 |
| 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 ITGA8 |
| 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 |
| ENST00000378076 | 15617487 | 15617593 | Frame-shift |
| ENST00000378076 | 15634223 | 15634303 | Frame-shift |
| ENST00000378076 | 15646206 | 15646354 | Frame-shift |
| ENST00000378076 | 15650233 | 15650289 | Frame-shift |
| ENST00000378076 | 15702877 | 15702921 | Frame-shift |
| ENST00000378076 | 15573048 | 15573150 | In-frame |
| ENST00000378076 | 15590453 | 15590567 | In-frame |
| ENST00000378076 | 15614209 | 15614368 | In-frame |
| ENST00000378076 | 15628582 | 15628663 | In-frame |
| ENST00000378076 | 15639205 | 15639298 | In-frame |
| ENST00000378076 | 15713601 | 15713646 | 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 |
| ENST00000378076 | 15617487 | 15617593 | Frame-shift |
| ENST00000378076 | 15634223 | 15634303 | Frame-shift |
| ENST00000378076 | 15646206 | 15646354 | Frame-shift |
| ENST00000378076 | 15650233 | 15650289 | Frame-shift |
| ENST00000378076 | 15702877 | 15702921 | Frame-shift |
| ENST00000378076 | 15573048 | 15573150 | In-frame |
| ENST00000378076 | 15590453 | 15590567 | In-frame |
| ENST00000378076 | 15614209 | 15614368 | In-frame |
| ENST00000378076 | 15628582 | 15628663 | In-frame |
| ENST00000378076 | 15639205 | 15639298 | In-frame |
| ENST00000378076 | 15713601 | 15713646 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITGA8 |
| 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 |
| ENST00000378076 | 6772 | 1063 | 15713601 | 15713646 | 1157 | 1201 | 267 | 282 |
| ENST00000378076 | 6772 | 1063 | 15639205 | 15639298 | 2473 | 2565 | 706 | 737 |
| ENST00000378076 | 6772 | 1063 | 15628582 | 15628663 | 2646 | 2726 | 764 | 790 |
| ENST00000378076 | 6772 | 1063 | 15614209 | 15614368 | 2833 | 2991 | 826 | 879 |
| ENST00000378076 | 6772 | 1063 | 15590453 | 15590567 | 3121 | 3234 | 922 | 960 |
| ENST00000378076 | 6772 | 1063 | 15573048 | 15573150 | 3235 | 3336 | 960 | 994 |
| 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 |
| ENST00000378076 | 6772 | 1063 | 15713601 | 15713646 | 1157 | 1201 | 267 | 282 |
| ENST00000378076 | 6772 | 1063 | 15639205 | 15639298 | 2473 | 2565 | 706 | 737 |
| ENST00000378076 | 6772 | 1063 | 15628582 | 15628663 | 2646 | 2726 | 764 | 790 |
| ENST00000378076 | 6772 | 1063 | 15614209 | 15614368 | 2833 | 2991 | 826 | 879 |
| ENST00000378076 | 6772 | 1063 | 15590453 | 15590567 | 3121 | 3234 | 922 | 960 |
| ENST00000378076 | 6772 | 1063 | 15573048 | 15573150 | 3235 | 3336 | 960 | 994 |
| 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 |
| P53708 | 267 | 282 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 267 | 282 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 267 | 282 | 253 | 306 | Repeat | Note=FG-GAP 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00803 |
| P53708 | 267 | 282 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 706 | 737 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 713 | 726 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 706 | 737 | 719 | 719 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 737 | 737 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 764 | 790 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 764 | 790 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 764 | 790 | 780 | 780 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 764 | 790 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 826 | 879 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 826 | 879 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 826 | 879 | 867 | 924 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 826 | 879 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 922 | 960 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 922 | 960 | 907 | 1063 | Chain | ID=PRO_0000016312;Note=Integrin alpha-8 light chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 922 | 960 | 867 | 924 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 922 | 960 | 929 | 934 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 922 | 960 | 923 | 923 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 922 | 960 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 960 | 994 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 960 | 994 | 907 | 1063 | Chain | ID=PRO_0000016312;Note=Integrin alpha-8 light chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 960 | 994 | 993 | 993 | Natural variant | ID=VAR_018677;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15579315,ECO:0000269|Ref.1;Dbxref=dbSNP:rs9333241,PMID:15579315 |
| P53708 | 960 | 994 | 994 | 994 | Natural variant | ID=VAR_018678;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15579315,ECO:0000269|PubMed:7768999,ECO:0000269|Ref.1;Dbxref=dbSNP:rs1041135,PMID:15579315,PMID:7768999 |
| P53708 | 960 | 994 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P53708 | 267 | 282 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 267 | 282 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 267 | 282 | 253 | 306 | Repeat | Note=FG-GAP 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00803 |
| P53708 | 267 | 282 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 706 | 737 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 713 | 726 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 706 | 737 | 719 | 719 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 737 | 737 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 706 | 737 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 764 | 790 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 764 | 790 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 764 | 790 | 780 | 780 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 764 | 790 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 826 | 879 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 826 | 879 | 39 | 906 | Chain | ID=PRO_0000016311;Note=Integrin alpha-8 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 826 | 879 | 867 | 924 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 826 | 879 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 922 | 960 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 922 | 960 | 907 | 1063 | Chain | ID=PRO_0000016312;Note=Integrin alpha-8 light chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 922 | 960 | 867 | 924 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 922 | 960 | 929 | 934 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P53708 | 922 | 960 | 923 | 923 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 922 | 960 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 960 | 994 | 39 | 1063 | Chain | ID=PRO_0000016310;Note=Integrin alpha-8 |
| P53708 | 960 | 994 | 907 | 1063 | Chain | ID=PRO_0000016312;Note=Integrin alpha-8 light chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P53708 | 960 | 994 | 993 | 993 | Natural variant | ID=VAR_018677;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15579315,ECO:0000269|Ref.1;Dbxref=dbSNP:rs9333241,PMID:15579315 |
| P53708 | 960 | 994 | 994 | 994 | Natural variant | ID=VAR_018678;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15579315,ECO:0000269|PubMed:7768999,ECO:0000269|Ref.1;Dbxref=dbSNP:rs1041135,PMID:15579315,PMID:7768999 |
| P53708 | 960 | 994 | 39 | 1012 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ITGA8 |
| - 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-A3A0-01 | exon_skip_48000 | 15590454 | 15590567 | 15590540 | 15590540 | Frame_Shift_Del | T | - | p.I932fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_48002 | 15614210 | 15614368 | 15614238 | 15614238 | Frame_Shift_Del | T | - | p.N870fs |
| HNSC | TCGA-CV-7440-01 | exon_skip_48010 | 15646207 | 15646354 | 15646284 | 15646284 | Frame_Shift_Del | C | - | p.E681fs |
| LUAD | TCGA-78-7159-01 | exon_skip_48013 | 15713602 | 15713646 | 15713635 | 15713636 | Frame_Shift_Ins | - | A | p.C272fs |
| LUAD | TCGA-78-7159-01 | exon_skip_48013 | 15713602 | 15713646 | 15713635 | 15713636 | Frame_Shift_Ins | - | A | p.V271fs |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_47999 | 15573049 | 15573150 | 15573081 | 15573081 | Nonsense_Mutation | G | A | p.Q984* |
| ESCA | TCGA-LN-A4A1-01 | exon_skip_47999 | 15573049 | 15573150 | 15573108 | 15573108 | Nonsense_Mutation | C | A | p.E975* |
| ESCA | TCGA-LN-A4A1-01 | exon_skip_47999 | 15573049 | 15573150 | 15573108 | 15573108 | Nonsense_Mutation | C | A | p.E975X |
| SKCM | TCGA-W3-AA1R-06 | exon_skip_48000 | 15590454 | 15590567 | 15590507 | 15590507 | Nonsense_Mutation | C | A | p.E943* |
| LUAD | TCGA-75-6214-01 | exon_skip_48003 | 15617488 | 15617593 | 15617523 | 15617523 | Nonsense_Mutation | C | A | p.E815* |
| SKCM | TCGA-EE-A2GC-06 | exon_skip_48008 | 15639206 | 15639298 | 15639292 | 15639292 | Nonsense_Mutation | G | A | p.R709* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_48010 | 15646207 | 15646354 | 15646290 | 15646290 | Nonsense_Mutation | C | A | p.E679* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_48010 | 15646207 | 15646354 | 15646290 | 15646290 | Nonsense_Mutation | C | A | p.E679X |
| LUSC | TCGA-22-4599-01 | exon_skip_47999 | 15573049 | 15573150 | 15573047 | 15573047 | Splice_Site | A | T | p.V994_splice |
| BRCA | TCGA-AR-A0U1-01 | exon_skip_47999 | 15573049 | 15573150 | 15573048 | 15573048 | Splice_Site | C | A | e28+1 |
| CESC | TCGA-IR-A3LA-01 | exon_skip_48003 | 15617488 | 15617593 | 15617594 | 15617594 | Splice_Site | C | T | e24-1 |
| LUAD | TCGA-95-7039-01 | exon_skip_48003 | 15617488 | 15617593 | 15617595 | 15617595 | Splice_Site | T | A | p.G791_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 |
| NCC021_KIDNEY | 15573049 | 15573150 | 15573056 | 15573056 | Missense_Mutation | C | T | p.S992N |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15573049 | 15573150 | 15573113 | 15573113 | Missense_Mutation | G | T | p.S973Y |
| M14_SKIN | 15590454 | 15590567 | 15590468 | 15590468 | Missense_Mutation | G | A | p.H956Y |
| NCIH2135_LUNG | 15590454 | 15590567 | 15590528 | 15590528 | Missense_Mutation | C | T | p.V936M |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15590454 | 15590567 | 15590537 | 15590537 | Missense_Mutation | A | T | p.S933T |
| HCC2450_LUNG | 15590454 | 15590567 | 15590552 | 15590552 | Missense_Mutation | C | G | p.E928Q |
| JHUEM7_ENDOMETRIUM | 15590454 | 15590567 | 15590556 | 15590556 | Missense_Mutation | A | C | p.N926K |
| 2313287_STOMACH | 15590454 | 15590567 | 15590561 | 15590561 | Missense_Mutation | T | C | p.T925A |
| NCIH2085_LUNG | 15590454 | 15590567 | 15590563 | 15590563 | Missense_Mutation | C | A | p.C924F |
| MEWO_SKIN | 15614210 | 15614368 | 15614218 | 15614218 | Missense_Mutation | C | T | p.D877N |
| KYSE220_OESOPHAGUS | 15614210 | 15614368 | 15614235 | 15614235 | Missense_Mutation | G | A | p.P871L |
| NCIH661_LUNG | 15614210 | 15614368 | 15614257 | 15614257 | Missense_Mutation | G | T | p.P864T |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15614210 | 15614368 | 15614302 | 15614302 | Missense_Mutation | G | C | p.R849G |
| TCYIK_CERVIX | 15614210 | 15614368 | 15614302 | 15614302 | Missense_Mutation | G | C | p.R849G |
| CA922_UPPER_AERODIGESTIVE_TRACT | 15617488 | 15617593 | 15617539 | 15617539 | Missense_Mutation | C | A | p.E809D |
| NCIH2342_LUNG | 15617488 | 15617593 | 15617583 | 15617583 | Missense_Mutation | G | T | p.P795T |
| HEC108_ENDOMETRIUM | 15628583 | 15628663 | 15628611 | 15628611 | Missense_Mutation | T | C | p.T782A |
| NCIH720_LUNG | 15634224 | 15634303 | 15634240 | 15634240 | Missense_Mutation | C | A | p.D759Y |
| VMRCRCW_KIDNEY | 15634224 | 15634303 | 15634251 | 15634251 | Missense_Mutation | C | T | p.S755N |
| KYSE30_OESOPHAGUS | 15639206 | 15639298 | 15639210 | 15639210 | Missense_Mutation | G | C | p.T736R |
| LS411N_LARGE_INTESTINE | 15639206 | 15639298 | 15639211 | 15639211 | Missense_Mutation | T | G | p.T736P |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15639206 | 15639298 | 15639238 | 15639238 | Missense_Mutation | C | T | p.D727N |
| MFE319_ENDOMETRIUM | 15646207 | 15646354 | 15646283 | 15646283 | Missense_Mutation | T | C | p.E681G |
| UMC11_LUNG | 15646207 | 15646354 | 15646287 | 15646287 | Missense_Mutation | C | A | p.G680W |
| EGI1_BILIARY_TRACT | 15702878 | 15702921 | 15702886 | 15702886 | Missense_Mutation | A | C | p.F295V |
| TE9_OESOPHAGUS | 15702878 | 15702921 | 15702890 | 15702890 | Missense_Mutation | C | G | p.Q293H |
| NCIH513_PLEURA | 15702878 | 15702921 | 15702916 | 15702916 | Missense_Mutation | C | A | p.V285F |
| LNCAPCLONEFGC_PROSTATE | 15713602 | 15713646 | 15713623 | 15713623 | Missense_Mutation | A | G | p.F276L |
| HCC2998_LARGE_INTESTINE | 15634224 | 15634303 | 15634301 | 15634301 | Nonsense_Mutation | A | C | p.Y738* |
| SW1271_LUNG | 15702878 | 15702921 | 15702910 | 15702911 | Nonsense_Mutation | CA | AG | p.G287* |
| SW1271_LUNG | 15702878 | 15702921 | 15702910 | 15702910 | Nonsense_Mutation | C | A | p.G287* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGA8 |
| 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 ITGA8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGA8 |
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RelatedDrugs for ITGA8 |
| 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 ITGA8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ITGA8 | C0036341 | Schizophrenia | 1 | PSYGENET |
| ITGA8 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| ITGA8 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| ITGA8 | C1619700 | RENAL ADYSPLASIA | 1 | HPO;UNIPROT |
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