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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 ITGB8 |
 Gene summary |
| Gene information | Gene symbol | ITGB8 | Gene ID | 3696 |
| Gene name | integrin subunit beta 8 | |
| Synonyms | - | |
| Cytomap | 7p21.1 | |
| Type of gene | protein-coding | |
| Description | integrin beta-8 | |
| Modification date | 20180523 | |
| UniProtAcc | P26012 | |
| Context | PubMed: ITGB8 [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 ITGB8 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 ITGB8 |
| 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 ITGB8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464634 | 7 | 20403262:20403345:20406634:20406809:20418673:20418916 | 20406634:20406809 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1,ENST00000478974.1 |
| exon_skip_464640 | 7 | 20406634:20406809:20418673:20418920:20420288:20420454 | 20418673:20418920 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1,ENST00000478974.1 |
| exon_skip_464644 | 7 | 20420288:20420454:20421349:20421508:20431025:20431121 | 20421349:20421508 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1,ENST00000478974.1 |
| exon_skip_464645 | 7 | 20434540:20434608:20438482:20438617:20441343:20441749 | 20438482:20438617 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1 |
| exon_skip_464655 | 7 | 20438482:20438617:20441343:20441749:20444250:20444476 | 20441343:20441749 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1 |
| exon_skip_464657 | 7 | 20444250:20444476:20445684:20445794:20449237:20449401 | 20445684:20445794 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1 |
| exon_skip_464659 | 7 | 20445684:20445794:20449237:20449401:20449497:20449607 | 20449237:20449401 | ENSG00000105855.5 | ENST00000222573.4,ENST00000537992.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITGB8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464634 | 7 | 20403262:20403345:20406634:20406809:20418673:20418916 | 20406634:20406809 | ENSG00000105855.5 | ENST00000537992.1,ENST00000478974.1,ENST00000222573.4 |
| exon_skip_464640 | 7 | 20406634:20406809:20418673:20418920:20420288:20420454 | 20418673:20418920 | ENSG00000105855.5 | ENST00000537992.1,ENST00000478974.1,ENST00000222573.4 |
| exon_skip_464644 | 7 | 20420288:20420454:20421349:20421508:20431025:20431121 | 20421349:20421508 | ENSG00000105855.5 | ENST00000537992.1,ENST00000478974.1,ENST00000222573.4 |
| exon_skip_464645 | 7 | 20434540:20434608:20438482:20438617:20441343:20441749 | 20438482:20438617 | ENSG00000105855.5 | ENST00000537992.1,ENST00000222573.4 |
| exon_skip_464655 | 7 | 20438482:20438617:20441343:20441749:20444250:20444476 | 20441343:20441749 | ENSG00000105855.5 | ENST00000537992.1,ENST00000222573.4 |
| exon_skip_464657 | 7 | 20444250:20444476:20445684:20445794:20449237:20449401 | 20445684:20445794 | ENSG00000105855.5 | ENST00000537992.1,ENST00000222573.4 |
| exon_skip_464659 | 7 | 20445684:20445794:20449237:20449401:20449497:20449607 | 20449237:20449401 | ENSG00000105855.5 | ENST00000537992.1,ENST00000222573.4 |
| 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 ITGB8 |
| 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 |
| ENST00000222573 | 20406634 | 20406809 | Frame-shift |
| ENST00000222573 | 20418673 | 20418920 | Frame-shift |
| ENST00000222573 | 20441343 | 20441749 | Frame-shift |
| ENST00000222573 | 20445684 | 20445794 | Frame-shift |
| ENST00000222573 | 20449237 | 20449401 | Frame-shift |
| ENST00000222573 | 20421349 | 20421508 | In-frame |
| ENST00000222573 | 20438482 | 20438617 | 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 |
| ENST00000222573 | 20406634 | 20406809 | Frame-shift |
| ENST00000222573 | 20418673 | 20418920 | Frame-shift |
| ENST00000222573 | 20441343 | 20441749 | Frame-shift |
| ENST00000222573 | 20445684 | 20445794 | Frame-shift |
| ENST00000222573 | 20449237 | 20449401 | Frame-shift |
| ENST00000222573 | 20421349 | 20421508 | In-frame |
| ENST00000222573 | 20438482 | 20438617 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITGB8 |
| 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 |
| ENST00000222573 | 8768 | 769 | 20421349 | 20421508 | 1486 | 1644 | 267 | 320 |
| ENST00000222573 | 8768 | 769 | 20438482 | 20438617 | 1831 | 1965 | 382 | 427 |
| 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 |
| ENST00000222573 | 8768 | 769 | 20421349 | 20421508 | 1486 | 1644 | 267 | 320 |
| ENST00000222573 | 8768 | 769 | 20438482 | 20438617 | 1831 | 1965 | 382 | 427 |
| 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 |
| P26012 | 267 | 320 | 43 | 769 | Chain | ID=PRO_0000016354;Note=Integrin beta-8 |
| P26012 | 267 | 320 | 47 | 469 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 267 | 320 | 266 | 307 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 267 | 320 | 146 | 384 | Domain | Note=VWFA |
| P26012 | 267 | 320 | 43 | 684 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26012 | 382 | 427 | 43 | 769 | Chain | ID=PRO_0000016354;Note=Integrin beta-8 |
| P26012 | 382 | 427 | 47 | 469 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 382 | 427 | 407 | 419 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 382 | 427 | 146 | 384 | Domain | Note=VWFA |
| P26012 | 382 | 427 | 402 | 402 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26012 | 382 | 427 | 421 | 421 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26012 | 382 | 427 | 43 | 684 | 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 |
| P26012 | 267 | 320 | 43 | 769 | Chain | ID=PRO_0000016354;Note=Integrin beta-8 |
| P26012 | 267 | 320 | 47 | 469 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 267 | 320 | 266 | 307 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 267 | 320 | 146 | 384 | Domain | Note=VWFA |
| P26012 | 267 | 320 | 43 | 684 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26012 | 382 | 427 | 43 | 769 | Chain | ID=PRO_0000016354;Note=Integrin beta-8 |
| P26012 | 382 | 427 | 47 | 469 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 382 | 427 | 407 | 419 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PIRSR:PIRSR002512-1 |
| P26012 | 382 | 427 | 146 | 384 | Domain | Note=VWFA |
| P26012 | 382 | 427 | 402 | 402 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26012 | 382 | 427 | 421 | 421 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26012 | 382 | 427 | 43 | 684 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ITGB8 |
| - 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 |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_464645 | 20438483 | 20438617 | 20438491 | 20438504 | Frame_Shift_Del | TTCAGAAGTGAAAG | - | p.SEVKV386fs |
| LUAD | TCGA-MP-A4T4-01 | exon_skip_464645 | 20438483 | 20438617 | 20438512 | 20438512 | Frame_Shift_Del | G | - | p.V392fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_464645 | 20438483 | 20438617 | 20438514 | 20438514 | Frame_Shift_Del | A | - | p.E393fs |
| STAD | TCGA-BR-6452-01 | exon_skip_464655 | 20441344 | 20441749 | 20441551 | 20441554 | Frame_Shift_Del | AATA | - | p.496_497del |
| STAD | TCGA-BR-6452-01 | exon_skip_464655 | 20441344 | 20441749 | 20441551 | 20441554 | Frame_Shift_Del | AATA | - | p.E496fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_464655 | 20441344 | 20441749 | 20441665 | 20441665 | Frame_Shift_Del | A | - | p.K535fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_464657 | 20445685 | 20445794 | 20445743 | 20445743 | Frame_Shift_Del | A | - | p.K658fs |
| STAD | TCGA-CG-4442-01 | exon_skip_464659 | 20449238 | 20449401 | 20449395 | 20449395 | Frame_Shift_Del | A | - | p.S727fs |
| STAD | TCGA-CG-4442-01 | exon_skip_464659 | 20449238 | 20449401 | 20449395 | 20449395 | Frame_Shift_Del | A | - | p.S727X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_464644 | 20421350 | 20421508 | 20421365 | 20421365 | Nonsense_Mutation | C | T | p.R273* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_464644 | 20421350 | 20421508 | 20421365 | 20421365 | Nonsense_Mutation | C | T | p.R273X |
| SKCM | TCGA-EE-A2GD-06 | exon_skip_464644 | 20421350 | 20421508 | 20421377 | 20421377 | Nonsense_Mutation | A | T | p.K277* |
| SKCM | TCGA-EE-A2GD-06 | exon_skip_464644 | 20421350 | 20421508 | 20421377 | 20421377 | Nonsense_Mutation | A | T | p.K277X |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_464645 | 20438483 | 20438617 | 20438493 | 20438493 | Nonsense_Mutation | C | A | p.S386* |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_464645 | 20438483 | 20438617 | 20438493 | 20438493 | Nonsense_Mutation | C | A | p.S386X |
| LUAD | TCGA-50-5932-01 | exon_skip_464640 | 20418674 | 20418920 | 20418673 | 20418673 | Splice_Site | G | T | p.G130_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 |
| NCIH630_LARGE_INTESTINE | 20449238 | 20449401 | 20449395 | 20449395 | Frame_Shift_Del | A | - | p.S727fs |
| LS411N_LARGE_INTESTINE | 20438483 | 20438617 | 20438535 | 20438536 | Frame_Shift_Ins | - | T | p.YF400fs |
| HEC1_ENDOMETRIUM | 20406635 | 20406809 | 20406803 | 20406803 | Missense_Mutation | C | T | p.R128C |
| HUH6_LIVER | 20418674 | 20418920 | 20418712 | 20418712 | Missense_Mutation | A | G | p.K143E |
| KNS62_LUNG | 20418674 | 20418920 | 20418712 | 20418712 | Missense_Mutation | A | G | p.K143E |
| HUH6CLONE5_LIVER | 20418674 | 20418920 | 20418712 | 20418712 | Missense_Mutation | A | G | p.K143E |
| LS411N_LARGE_INTESTINE | 20418674 | 20418920 | 20418790 | 20418790 | Missense_Mutation | G | A | p.V169I |
| GCT_SOFT_TISSUE | 20418674 | 20418920 | 20418799 | 20418799 | Missense_Mutation | G | A | p.D172N |
| COLO783_SKIN | 20418674 | 20418920 | 20418820 | 20418820 | Missense_Mutation | T | C | p.F179L |
| OMC1_CERVIX | 20418674 | 20418920 | 20418854 | 20418854 | Missense_Mutation | C | T | p.S190L |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 20421350 | 20421508 | 20421447 | 20421447 | Missense_Mutation | T | C | p.V300A |
| IALM_LUNG | 20438483 | 20438617 | 20438548 | 20438549 | Missense_Mutation | CG | GT | p.A405S |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20438483 | 20438617 | 20438595 | 20438595 | Missense_Mutation | G | A | p.R420K |
| AGS_STOMACH | 20438483 | 20438617 | 20438604 | 20438604 | Missense_Mutation | C | T | p.T423M |
| NEC8_TESTIS | 20441344 | 20441749 | 20441369 | 20441369 | Missense_Mutation | T | C | p.M436T |
| BHY_UPPER_AERODIGESTIVE_TRACT | 20441344 | 20441749 | 20441484 | 20441484 | Missense_Mutation | C | A | p.N474K |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 20441344 | 20441749 | 20441515 | 20441515 | Missense_Mutation | A | G | p.T485A |
| NCIH630_LARGE_INTESTINE | 20441344 | 20441749 | 20441683 | 20441683 | Missense_Mutation | G | C | p.V541L |
| LS180_LARGE_INTESTINE | 20449238 | 20449401 | 20449269 | 20449269 | Missense_Mutation | A | G | p.I685M |
| HT115_LARGE_INTESTINE | 20449238 | 20449401 | 20449270 | 20449270 | Missense_Mutation | T | G | p.F686V |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20449238 | 20449401 | 20449345 | 20449345 | Missense_Mutation | T | C | p.W711R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGB8 |
| 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 ITGB8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGB8 |
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RelatedDrugs for ITGB8 |
| 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 ITGB8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ITGB8 | C0014175 | Endometriosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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