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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 ITGA2 |
 Gene summary |
| Gene information | Gene symbol | ITGA2 | Gene ID | 3673 |
| Gene name | integrin subunit alpha 2 | |
| Synonyms | BR|CD49B|GPIa|HPA-5|VLA-2|VLAA2 | |
| Cytomap | 5q11.2 | |
| Type of gene | protein-coding | |
| Description | integrin alpha-2CD49 antigen-like family member Balpha 2 subunit of VLA-2 receptorcollagen receptorhuman platelet alloantigen system 5integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)platelet antigen Brplatelet glycoprotein GPIaplatelet | |
| Modification date | 20180527 | |
| UniProtAcc | P17301 | |
| Context | PubMed: ITGA2 [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 ITGA2 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 ITGA2 |
| 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 ITGA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434731 | 5 | 52285269:52285362:52322577:52322698:52337941:52338051 | 52322577:52322698 | ENSG00000164171.6 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000509814.1 |
| exon_skip_434733 | 5 | 52344192:52344307:52344472:52344600:52347240:52347389 | 52344472:52344600 | ENSG00000164171.6 | ENST00000510722.1,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 |
| exon_skip_434734 | 5 | 52351367:52351518:52351813:52351979:52353854:52353931 | 52351813:52351979 | ENSG00000164171.6 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 |
| exon_skip_434735 | 5 | 52368442:52368525:52368947:52369089:52370214:52370307 | 52368947:52369089 | ENSG00000164171.6 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000513685.1,ENST00000296585.5 |
| exon_skip_434736 | 5 | 52370214:52370307:52370890:52370967:52371050:52371134 | 52370890:52370967 | ENSG00000164171.6 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 |
| exon_skip_434737 | 5 | 52371050:52371134:52374601:52374704:52376340:52376451 | 52374601:52374704 | ENSG00000164171.6 | ENST00000503810.2,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 |
| exon_skip_434739 | 5 | 52374601:52374704:52376340:52376451:52377421:52377526 | 52376340:52376451 | ENSG00000164171.6 | ENST00000503810.2,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 |
| exon_skip_434740 | 5 | 52379169:52379283:52382781:52382871:52385775:52385892 | 52382781:52382871 | ENSG00000164171.6 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITGA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434731 | 5 | 52285269:52285362:52322577:52322698:52337941:52338051 | 52322577:52322698 | ENSG00000164171.6 | ENST00000503810.2,ENST00000509814.1,ENST00000509960.1,ENST00000510722.1 |
| exon_skip_434732 | 5 | 52340830:52340922:52344192:52344307:52347240:52347389 | 52344192:52344307 | ENSG00000164171.6 | ENST00000503810.2 |
| exon_skip_434733 | 5 | 52344192:52344307:52344472:52344600:52347240:52347389 | 52344472:52344600 | ENSG00000164171.6 | ENST00000296585.5,ENST00000513685.1,ENST00000509814.1,ENST00000509960.1,ENST00000510722.1 |
| exon_skip_434734 | 5 | 52351367:52351518:52351813:52351979:52353854:52353931 | 52351813:52351979 | ENSG00000164171.6 | ENST00000296585.5,ENST00000503810.2,ENST00000513685.1,ENST00000509814.1,ENST00000509960.1,ENST00000510722.1 |
| exon_skip_434735 | 5 | 52368442:52368525:52368947:52369089:52370214:52370307 | 52368947:52369089 | ENSG00000164171.6 | ENST00000296585.5,ENST00000503810.2,ENST00000513685.1,ENST00000509960.1,ENST00000510722.1 |
| exon_skip_434736 | 5 | 52370214:52370307:52370890:52370967:52371050:52371134 | 52370890:52370967 | ENSG00000164171.6 | ENST00000296585.5,ENST00000503810.2,ENST00000513685.1,ENST00000509814.1,ENST00000509960.1,ENST00000510722.1 |
| exon_skip_434737 | 5 | 52371050:52371134:52374601:52374704:52376340:52376451 | 52374601:52374704 | ENSG00000164171.6 | ENST00000296585.5,ENST00000503810.2,ENST00000513685.1,ENST00000509814.1,ENST00000509960.1 |
| exon_skip_434739 | 5 | 52374601:52374704:52376340:52376451:52377421:52377526 | 52376340:52376451 | ENSG00000164171.6 | ENST00000296585.5,ENST00000503810.2,ENST00000513685.1,ENST00000509814.1,ENST00000509960.1 |
| exon_skip_434740 | 5 | 52379169:52379283:52382781:52382871:52385775:52385892 | 52382781:52382871 | ENSG00000164171.6 | ENST00000296585.5,ENST00000503810.2,ENST00000513685.1,ENST00000509814.1,ENST00000509960.1,ENST00000510722.1 |
| 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 ITGA2 |
| 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 |
| ENST00000296585 | 52344472 | 52344600 | Frame-shift |
| ENST00000296585 | 52351813 | 52351979 | Frame-shift |
| ENST00000296585 | 52368947 | 52369089 | Frame-shift |
| ENST00000296585 | 52370890 | 52370967 | Frame-shift |
| ENST00000296585 | 52374601 | 52374704 | Frame-shift |
| ENST00000296585 | 52376340 | 52376451 | In-frame |
| ENST00000296585 | 52382781 | 52382871 | 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 |
| ENST00000296585 | 52344472 | 52344600 | Frame-shift |
| ENST00000296585 | 52351813 | 52351979 | Frame-shift |
| ENST00000296585 | 52368947 | 52369089 | Frame-shift |
| ENST00000296585 | 52370890 | 52370967 | Frame-shift |
| ENST00000296585 | 52374601 | 52374704 | Frame-shift |
| ENST00000296585 | 52376340 | 52376451 | In-frame |
| ENST00000296585 | 52382781 | 52382871 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITGA2 |
| 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 |
| ENST00000296585 | 7886 | 1181 | 52376340 | 52376451 | 3072 | 3182 | 976 | 1013 |
| ENST00000296585 | 7886 | 1181 | 52382781 | 52382871 | 3402 | 3491 | 1086 | 1116 |
| 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 |
| ENST00000296585 | 7886 | 1181 | 52376340 | 52376451 | 3072 | 3182 | 976 | 1013 |
| ENST00000296585 | 7886 | 1181 | 52382781 | 52382871 | 3402 | 3491 | 1086 | 1116 |
| 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 |
| P17301 | 976 | 1013 | 30 | 1181 | Chain | ID=PRO_0000016233;Note=Integrin alpha-2 |
| P17301 | 976 | 1013 | 30 | 1132 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P17301 | 1086 | 1116 | 30 | 1181 | Chain | ID=PRO_0000016233;Note=Integrin alpha-2 |
| P17301 | 1086 | 1116 | 30 | 1132 | 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 |
| P17301 | 976 | 1013 | 30 | 1181 | Chain | ID=PRO_0000016233;Note=Integrin alpha-2 |
| P17301 | 976 | 1013 | 30 | 1132 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P17301 | 1086 | 1116 | 30 | 1181 | Chain | ID=PRO_0000016233;Note=Integrin alpha-2 |
| P17301 | 1086 | 1116 | 30 | 1132 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ITGA2 |
| - 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. |
ITGA2_HNSC_exon_skip_434739_psi_boxplot.png |
ITGA2_LGG_exon_skip_434739_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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434731 | 52322578 | 52322698 | 52322624 | 52322624 | Frame_Shift_Del | A | - | p.A37fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_434733 | 52344473 | 52344600 | 52344549 | 52344549 | Frame_Shift_Del | T | - | p.N193fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434734 | 52351814 | 52351979 | 52351839 | 52351839 | Frame_Shift_Del | C | - | p.A319fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434735 | 52368948 | 52369089 | 52369050 | 52369050 | Frame_Shift_Del | T | - | p.D844fs |
| KICH | TCGA-KO-8410-01 | exon_skip_434739 | 52376341 | 52376451 | 52376390 | 52376393 | Frame_Shift_Del | TCCC | - | p.993_994del |
| KICH | TCGA-KO-8410-01 | exon_skip_434739 | 52376341 | 52376451 | 52376390 | 52376393 | Frame_Shift_Del | TCCC | - | p.I993fs |
| LGG | TCGA-DU-6392-01 | exon_skip_434739 | 52376341 | 52376451 | 52376441 | 52376441 | Frame_Shift_Del | A | - | p.Q1010fs |
| STAD | TCGA-BR-4201-01 | exon_skip_434735 | 52368948 | 52369089 | 52369065 | 52369066 | Frame_Shift_Ins | - | T | p.L849fs |
| STAD | TCGA-BR-4201-01 | exon_skip_434735 | 52368948 | 52369089 | 52369066 | 52369067 | Frame_Shift_Ins | - | T | p.L849fs |
| LIHC | TCGA-G3-AAV0-01 | exon_skip_434739 | 52376341 | 52376451 | 52376395 | 52376395 | Nonsense_Mutation | C | T | p.Q995X |
| UCEC | TCGA-AP-A051-01 | exon_skip_434733 | 52344473 | 52344600 | 52344601 | 52344601 | Splice_Site | G | T | e6+1 |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_434734 | 52351814 | 52351979 | 52351981 | 52351982 | Splice_Site | - | A | . |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_434734 | 52351814 | 52351979 | 52351981 | 52351982 | Splice_Site | - | A | e9+2 |
| UCEC | TCGA-BG-A0MG-01 | exon_skip_434735 | 52368948 | 52369089 | 52369090 | 52369090 | Splice_Site | G | T | p.P857_splice |
| UCEC | TCGA-BG-A0MU-01 | exon_skip_434735 | 52368948 | 52369089 | 52369090 | 52369090 | Splice_Site | G | T | p.P857_splice |
| HNSC | TCGA-CR-7390-01 | exon_skip_434739 | 52376341 | 52376451 | 52376453 | 52376453 | Splice_Site | T | C | p.K1013_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CR-7390-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_434739 | |
| Skipped exon start: 52376341 | |
| Skipped exon end: 52376451 | |
| Mutation start: 52376453 | |
| Mutation end: 52376453 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: p.K1013_splice | |
exon_skip_11029_HNSC_TCGA-CR-7390-01.png | |
exon_skip_14564_HNSC_TCGA-CR-7390-01.png | |
exon_skip_434739_HNSC_TCGA-CR-7390-01.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 |
| HEC59_ENDOMETRIUM | 52344473 | 52344600 | 52344549 | 52344549 | Frame_Shift_Del | T | - | p.N193fs |
| EN_ENDOMETRIUM | 52344473 | 52344600 | 52344548 | 52344549 | Frame_Shift_Ins | - | T | p.NF193fs |
| BICR22_UPPER_AERODIGESTIVE_TRACT | 52351814 | 52351979 | 52351903 | 52351904 | Frame_Shift_Ins | - | T | p.F341fs |
| OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52322578 | 52322698 | 52322617 | 52322617 | Missense_Mutation | C | A | p.P35Q |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52322578 | 52322698 | 52322662 | 52322662 | Missense_Mutation | A | G | p.Y50C |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52344473 | 52344600 | 52344500 | 52344500 | Missense_Mutation | T | G | p.V177G |
| 639V_URINARY_TRACT | 52344473 | 52344600 | 52344536 | 52344536 | Missense_Mutation | A | G | p.D189G |
| NCIH513_PLEURA | 52351814 | 52351979 | 52351833 | 52351833 | Missense_Mutation | G | A | p.R317K |
| LNCAPCLONEFGC_PROSTATE | 52368948 | 52369089 | 52368973 | 52368973 | Missense_Mutation | C | A | p.Q819K |
| UWB1289_OVARY | 52368948 | 52369089 | 52369010 | 52369010 | Missense_Mutation | A | G | p.N831S |
| DMS79_LUNG | 52368948 | 52369089 | 52369027 | 52369027 | Missense_Mutation | T | C | p.Y837H |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52374602 | 52374704 | 52374697 | 52374697 | Missense_Mutation | C | T | p.S974F |
| SNU1040_LARGE_INTESTINE | 52376341 | 52376451 | 52376371 | 52376371 | Missense_Mutation | G | A | p.A987T |
| HEC108_ENDOMETRIUM | 52376341 | 52376451 | 52376416 | 52376416 | Missense_Mutation | C | A | p.P1002T |
| JHUEM7_ENDOMETRIUM | 52322578 | 52322698 | 52322619 | 52322619 | Nonsense_Mutation | G | T | p.E36* |
| SW48_LARGE_INTESTINE | 52351814 | 52351979 | 52351961 | 52351961 | Nonsense_Mutation | C | T | p.Q360* |
| JHOS3_OVARY | 52368948 | 52369089 | 52369089 | 52369089 | Splice_Site | G | A | p.P857P |
| SNU878_LIVER | 52374602 | 52374704 | 52374602 | 52374602 | Splice_Site | A | C | p.R942S |
| DMS454_LUNG | 52376341 | 52376451 | 52376451 | 52376451 | Splice_Site | G | T | p.K1013N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGA2 |
| 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 |
| exon_skip_434734 | 5 | 52351367:52351518:52351813:52351979:52353854:52353931 | 52351813:52351979 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000509814.1,ENST00000513685.1,ENST00000296585.5 | ESCA | rs3212523 | chr5:52351876 | A/G | 6.13e-05 |
| exon_skip_434735 | 5 | 52368442:52368525:52368947:52369089:52370214:52370307 | 52368947:52369089 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000513685.1,ENST00000296585.5 | ESCA | rs3212327 | chr5:52369002 | G/A | 1.01e-03 |
| exon_skip_434735 | 5 | 52368442:52368525:52368947:52369089:52370214:52370307 | 52368947:52369089 | ENST00000510722.1,ENST00000503810.2,ENST00000509960.1,ENST00000513685.1,ENST00000296585.5 | LUSC | rs3212327 | chr5:52369002 | G/A | 2.87e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGA2 |
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RelatedDrugs for ITGA2 |
| 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 ITGA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ITGA2 | C0014175 | Endometriosis | 1 | CTD_human |
| ITGA2 | C0017639 | Gliosis | 1 | CTD_human |
| ITGA2 | C0020429 | Hyperalgesia | 1 | CTD_human |
| ITGA2 | C0035328 | Retinal Vein Occlusion | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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