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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 ITGA6 |
Gene summary |
| Gene information | Gene symbol | ITGA6 | Gene ID | 3655 |
| Gene name | integrin subunit alpha 6 | |
| Synonyms | CD49f|ITGA6B|VLA-6 | |
| Cytomap | 2q31.1 | |
| Type of gene | protein-coding | |
| Description | integrin alpha-6CD49 antigen-like family member Fintegrin alpha6Bintegrin, alpha 6 | |
| Modification date | 20180522 | |
| UniProtAcc | P23229 | |
| Context | PubMed: ITGA6 [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 ITGA6 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 ITGA6 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ITGA6 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_331160 | 2 | 173330266:173330391:173332208:173332288:173333852:173334108 | 173332208:173332288 | ENSG00000091409.10 | ENST00000375221.2,ENST00000412899.1,ENST00000409532.1,ENST00000442250.1,ENST00000264107.7,ENST00000264106.6,ENST00000458358.1,ENST00000343713.4,ENST00000409080.1 |
| exon_skip_331168 | 2 | 173332208:173332288:173333852:173334108:173335701:173335833 | 173333852:173334108 | ENSG00000091409.10 | ENST00000375221.2,ENST00000412899.1,ENST00000442250.1,ENST00000264107.7,ENST00000264106.6,ENST00000409080.1 |
| exon_skip_331171 | 2 | 173333852:173334108:173335701:173335833:173337501:173337618 | 173335701:173335833 | ENSG00000091409.10 | ENST00000375221.2,ENST00000442250.1,ENST00000264106.6 |
| exon_skip_331172 | 2 | 173333852:173334108:173335701:173335833:173338782:173338840 | 173335701:173335833 | ENSG00000091409.10 | ENST00000412899.1,ENST00000497107.1,ENST00000264107.7,ENST00000409080.1 |
| exon_skip_331173 | 2 | 173333852:173334108:173337501:173337618:173338782:173338840 | 173337501:173337618 | ENSG00000091409.10 | ENST00000409532.1,ENST00000458358.1,ENST00000343713.4 |
| exon_skip_331174 | 2 | 173335701:173335833:173337501:173337618:173338782:173338840 | 173337501:173337618 | ENSG00000091409.10 | ENST00000375221.2,ENST00000442250.1,ENST00000264106.6 |
| exon_skip_331175 | 2 | 173344368:173344467:173344717:173344779:173349509:173349670 | 173344717:173344779 | ENSG00000091409.10 | ENST00000375221.2,ENST00000409532.1,ENST00000442250.1,ENST00000264107.7,ENST00000264106.6,ENST00000458358.1,ENST00000343713.4,ENST00000409080.1 |
| exon_skip_331178 | 2 | 173351750:173351866:173351991:173352181:173352274:173352358 | 173351991:173352181 | ENSG00000091409.10 | ENST00000375221.2,ENST00000409532.1,ENST00000442250.1,ENST00000264107.7,ENST00000264106.6,ENST00000458358.1,ENST00000343713.4,ENST00000409080.1 |
| exon_skip_331180 | 2 | 173352853:173352956:173354212:173354386:173355751:173355850 | 173354212:173354386 | ENSG00000091409.10 | ENST00000375221.2,ENST00000409532.1,ENST00000442250.1,ENST00000264107.7,ENST00000264106.6,ENST00000458358.1,ENST00000343713.4,ENST00000409080.1 |
| exon_skip_331181 | 2 | 173362702:173362828:173366499:173366629:173368818:173368977 | 173366499:173366629 | ENSG00000091409.10 | ENST00000375221.2,ENST00000409532.1,ENST00000264107.7,ENST00000343713.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITGA6 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_331160 | 2 | 173330266:173330391:173332208:173332288:173333852:173334108 | 173332208:173332288 | ENSG00000091409.10 | ENST00000412899.1,ENST00000409532.1,ENST00000264107.7,ENST00000264106.6,ENST00000375221.2,ENST00000343713.4,ENST00000442250.1,ENST00000458358.1,ENST00000409080.1 |
| exon_skip_331168 | 2 | 173332208:173332288:173333852:173334108:173335701:173335833 | 173333852:173334108 | ENSG00000091409.10 | ENST00000412899.1,ENST00000264107.7,ENST00000264106.6,ENST00000375221.2,ENST00000442250.1,ENST00000409080.1 |
| exon_skip_331171 | 2 | 173333852:173334108:173335701:173335833:173337501:173337618 | 173335701:173335833 | ENSG00000091409.10 | ENST00000264106.6,ENST00000375221.2,ENST00000442250.1 |
| exon_skip_331172 | 2 | 173333852:173334108:173335701:173335833:173338782:173338840 | 173335701:173335833 | ENSG00000091409.10 | ENST00000412899.1,ENST00000264107.7,ENST00000409080.1,ENST00000497107.1 |
| exon_skip_331173 | 2 | 173333852:173334108:173337501:173337618:173338782:173338840 | 173337501:173337618 | ENSG00000091409.10 | ENST00000409532.1,ENST00000343713.4,ENST00000458358.1 |
| exon_skip_331174 | 2 | 173335701:173335833:173337501:173337618:173338782:173338840 | 173337501:173337618 | ENSG00000091409.10 | ENST00000264106.6,ENST00000375221.2,ENST00000442250.1 |
| exon_skip_331175 | 2 | 173344368:173344467:173344717:173344779:173349509:173349670 | 173344717:173344779 | ENSG00000091409.10 | ENST00000409532.1,ENST00000264107.7,ENST00000264106.6,ENST00000375221.2,ENST00000343713.4,ENST00000442250.1,ENST00000458358.1,ENST00000409080.1 |
| exon_skip_331178 | 2 | 173351750:173351866:173351991:173352181:173352274:173352358 | 173351991:173352181 | ENSG00000091409.10 | ENST00000409532.1,ENST00000264107.7,ENST00000264106.6,ENST00000375221.2,ENST00000343713.4,ENST00000442250.1,ENST00000458358.1,ENST00000409080.1 |
| exon_skip_331180 | 2 | 173352853:173352956:173354212:173354386:173355751:173355850 | 173354212:173354386 | ENSG00000091409.10 | ENST00000409532.1,ENST00000264107.7,ENST00000264106.6,ENST00000375221.2,ENST00000343713.4,ENST00000442250.1,ENST00000458358.1,ENST00000409080.1 |
| exon_skip_331181 | 2 | 173362702:173362828:173366499:173366629:173368818:173368977 | 173366499:173366629 | ENSG00000091409.10 | ENST00000409532.1,ENST00000264107.7,ENST00000375221.2,ENST00000343713.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ITGA6 |
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 ITGA6 |
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 ITGA6 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_331171 exon_skip_331172 | 173335702 | 173335833 | 173335733 | 173335733 | Frame_Shift_Del | T | - | p.T225fs |
| STAD | TCGA-CG-5723-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335733 | 173335733 | Frame_Shift_Del | T | - | p.T225fs |
| STAD | TCGA-HU-8602-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335733 | 173335733 | Frame_Shift_Del | T | - | p.T225fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_331173 exon_skip_331174 | 173337502 | 173337618 | 173337510 | 173337510 | Frame_Shift_Del | T | - | p.F262fs |
| BLCA | TCGA-DK-A3IU-01 | exon_skip_331173 exon_skip_331174 | 173337502 | 173337618 | 173337614 | 173337614 | Frame_Shift_Del | C | - | p.Y296fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335732 | 173335733 | Frame_Shift_Ins | - | T | p.D228fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335732 | 173335733 | Frame_Shift_Ins | - | T | p.I225fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335732 | 173335733 | Frame_Shift_Ins | - | T | p.T225fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335732 | 173335733 | Frame_Shift_Ins | - | T | p.T225fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335733 | 173335734 | Frame_Shift_Ins | - | T | p.T225fs |
| SKCM | TCGA-EE-A2GU-06 | exon_skip_331168 | 173333853 | 173334108 | 173334104 | 173334104 | Nonsense_Mutation | G | A | p.W213* |
| LGG | TCGA-DU-6407-02 | exon_skip_331171 exon_skip_331172 | 173335702 | 173335833 | 173335719 | 173335719 | Nonsense_Mutation | C | T | p.Q221* |
| SKCM | TCGA-FR-A726-01 | exon_skip_331175 | 173344718 | 173344779 | 173344722 | 173344722 | Nonsense_Mutation | C | T | p.Q537* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_331180 | 173354213 | 173354386 | 173354279 | 173354279 | Nonsense_Mutation | G | T | p.E858* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_331180 | 173354213 | 173354386 | 173354279 | 173354279 | Nonsense_Mutation | G | T | p.E858* |
- 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 |
| SKUT1_SOFT_TISSUE | 173335702 | 173335833 | 173335733 | 173335733 | Frame_Shift_Del | T | - | p.T225fs |
| NCIH513_PLEURA | 173354213 | 173354386 | 173354275 | 173354275 | Frame_Shift_Del | A | - | p.P895fs |
| CW2_LARGE_INTESTINE | 173335702 | 173335833 | 173335732 | 173335733 | Frame_Shift_Ins | - | T | p.TF225fs |
| MDAPCA2B_PROSTATE | 173332209 | 173332288 | 173332256 | 173332256 | Missense_Mutation | G | A | p.V119I |
| VMCUB1_URINARY_TRACT | 173333853 | 173334108 | 173333922 | 173333922 | Missense_Mutation | C | T | p.R153W |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 173333853 | 173334108 | 173333939 | 173333939 | Missense_Mutation | T | G | p.S158R |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173333853 | 173334108 | 173333950 | 173333950 | Missense_Mutation | G | T | p.R162M |
| NCIH748_LUNG | 173333853 | 173334108 | 173333962 | 173333962 | Missense_Mutation | A | G | p.D166G |
| IGROV1_OVARY | 173333853 | 173334108 | 173333969 | 173333969 | Missense_Mutation | T | G | p.D168E |
| HCC1954_BREAST | 173333853 | 173334108 | 173333988 | 173333988 | Missense_Mutation | T | G | p.C175G |
| NCIH1573_LUNG | 173333853 | 173334108 | 173333991 | 173333991 | Missense_Mutation | G | T | p.D176Y |
| OVK18_OVARY | 173333853 | 173334108 | 173334067 | 173334067 | Missense_Mutation | A | G | p.H201R |
| WM278_SKIN | 173335702 | 173335833 | 173335711 | 173335711 | Missense_Mutation | G | A | p.R218H |
| SH10TC_STOMACH | 173335702 | 173335833 | 173335757 | 173335757 | Missense_Mutation | A | C | p.E233D |
| OVK18_OVARY | 173335702 | 173335833 | 173335762 | 173335762 | Missense_Mutation | G | A | p.G235E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173335702 | 173335833 | 173335790 | 173335790 | Missense_Mutation | G | T | p.E244D |
| EN_ENDOMETRIUM | 173337502 | 173337618 | 173337528 | 173337528 | Missense_Mutation | T | C | p.Y268H |
| MDAMB361_BREAST | 173337502 | 173337618 | 173337540 | 173337540 | Missense_Mutation | G | A | p.D272N |
| EFM19_BREAST | 173337502 | 173337618 | 173337594 | 173337594 | Missense_Mutation | G | A | p.D290N |
| TE441T_SOFT_TISSUE | 173351992 | 173352181 | 173352023 | 173352023 | Missense_Mutation | G | T | p.D707Y |
| SNU1040_LARGE_INTESTINE | 173351992 | 173352181 | 173352104 | 173352104 | Missense_Mutation | G | A | p.A734T |
| UMUC6_URINARY_TRACT | 173351992 | 173352181 | 173352162 | 173352162 | Missense_Mutation | G | C | p.R753T |
| HCC1569_BREAST | 173354213 | 173354386 | 173354217 | 173354217 | Missense_Mutation | T | C | p.I876T |
| WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173354213 | 173354386 | 173354247 | 173354247 | Missense_Mutation | G | T | p.G886V |
| HCT116_LARGE_INTESTINE | 173333853 | 173334108 | 173333907 | 173333907 | Nonsense_Mutation | C | T | p.R148* |
| NCIH292_LUNG | 173337502 | 173337618 | 173337543 | 173337543 | Nonsense_Mutation | C | T | p.Q273* |
| MEWO_SKIN | 173354213 | 173354386 | 173354267 | 173354267 | Nonsense_Mutation | C | T | p.Q893* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGA6 |
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 ITGA6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGA6 |
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RelatedDrugs for ITGA6 |
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 ITGA6 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ITGA6 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |