|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ITGAV |
Gene summary |
Gene information | Gene symbol | ITGAV | Gene ID | 3685 |
Gene name | integrin subunit alpha V | |
Synonyms | CD51|MSK8|VNRA|VTNR | |
Cytomap | 2q32.1 | |
Type of gene | protein-coding | |
Description | integrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ITGAV | GO:0007155 | cell adhesion | 10218736 |
ITGAV | GO:0008284 | positive regulation of cell proliferation | 19578119 |
ITGAV | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
ITGAV | GO:0034446 | substrate adhesion-dependent cell spreading | 24658351 |
ITGAV | GO:0045785 | positive regulation of cell adhesion | 10708943 |
ITGAV | GO:0050764 | regulation of phagocytosis | 10570297 |
ITGAV | GO:0070588 | calcium ion transmembrane transport | 18395422 |
ITGAV | GO:1901388 | regulation of transforming growth factor beta activation | 22278742 |
ITGAV | GO:2000536 | negative regulation of entry of bacterium into host cell | 10570297 |
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Gene structures and expression levels for ITGAV |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000460641.1 | ITGAV-205:retained_intron:ITGAV | 1.692145e+00 | 1.393836e+00 | 2.280465e-05 | 2.115341e-04 |
CB | UP | ENST00000496477.1 | ITGAV-207:retained_intron:ITGAV | 2.445022e+00 | 1.242241e+00 | 7.356188e-04 | 3.991425e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ITGAV |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_12480 | chr2 | 186666704:186666783:186667150:186667230:186667671:186667776 | 186667150:186667230 |
exon_skip_133438 | chr2 | 186590080:186590523:186602021:186602151:186622339:186622430 | 186602021:186602151 |
exon_skip_178961 | chr2 | 186664494:186664641:186665126:186665218:186666704:186666783 | 186665126:186665218 |
exon_skip_188128 | chr2 | 186625473:186625587:186630797:186630858:186633329:186633374 | 186630797:186630858 |
exon_skip_202464 | chr2 | 186649840:186649885:186651982:186652089:186654650:186654708 | 186651982:186652089 |
exon_skip_22330 | chr2 | 186669701:186669814:186675604:186675717:186675820:186675927 | 186675604:186675717 |
exon_skip_231342 | chr2 | 186656247:186656401:186659038:186659175:186663768:186663835 | 186659038:186659175 |
exon_skip_265657 | chr2 | 186675820:186675927:186676813:186676935:186677197:186677441 | 186676813:186676935 |
exon_skip_57930 | chr2 | 186622339:186622430:186625473:186625587:186636082:186636207 | 186625473:186625587 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ITGAV |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000261023 | 186630797 | 186630858 | Frame-shift |
ENST00000261023 | 186675604 | 186675717 | In-frame |
ENST00000261023 | 186676813 | 186676935 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000261023 | 186630797 | 186630858 | Frame-shift |
ENST00000261023 | 186667150 | 186667230 | In-frame |
ENST00000261023 | 186675604 | 186675717 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000261023 | 186630797 | 186630858 | Frame-shift |
ENST00000261023 | 186651982 | 186652089 | In-frame |
ENST00000261023 | 186659038 | 186659175 | In-frame |
ENST00000261023 | 186665126 | 186665218 | In-frame |
ENST00000261023 | 186667150 | 186667230 | In-frame |
ENST00000261023 | 186675604 | 186675717 | In-frame |
ENST00000261023 | 186676813 | 186676935 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITGAV |
p-ENSG00000138448_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000261023 | 7047 | 1048 | 186675604 | 186675717 | 2982 | 3094 | 902 | 940 |
ENST00000261023 | 7047 | 1048 | 186676813 | 186676935 | 3204 | 3325 | 976 | 1017 |
Loci of skipped exons in MSBB 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 |
ENST00000261023 | 7047 | 1048 | 186667150 | 186667230 | 2522 | 2601 | 749 | 775 |
ENST00000261023 | 7047 | 1048 | 186675604 | 186675717 | 2982 | 3094 | 902 | 940 |
Loci of skipped exons in Mayo 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 |
ENST00000261023 | 7047 | 1048 | 186651982 | 186652089 | 1673 | 1779 | 466 | 501 |
ENST00000261023 | 7047 | 1048 | 186659038 | 186659175 | 1995 | 2131 | 573 | 619 |
ENST00000261023 | 7047 | 1048 | 186665126 | 186665218 | 2349 | 2440 | 691 | 722 |
ENST00000261023 | 7047 | 1048 | 186667150 | 186667230 | 2522 | 2601 | 749 | 775 |
ENST00000261023 | 7047 | 1048 | 186675604 | 186675717 | 2982 | 3094 | 902 | 940 |
ENST00000261023 | 7047 | 1048 | 186676813 | 186676935 | 3204 | 3325 | 976 | 1017 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
P06756 | 902 | 940 | 900 | 902 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 907 | 916 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 923 | 933 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 902 | 940 | 891 | 1048 | Chain | ID=PRO_0000016303;Note=Integrin alpha-V light chain |
P06756 | 902 | 940 | 852 | 914 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 902 | 940 | 904 | 909 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 902 | 940 | 935 | 938 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 902 | 940 | 904 | 906 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 976 | 1017 | 971 | 982 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 976 | 1017 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 976 | 1017 | 891 | 1048 | Chain | ID=PRO_0000016303;Note=Integrin alpha-V light chain |
P06756 | 976 | 1017 | 980 | 980 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 976 | 1017 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 976 | 1017 | 1017 | 1048 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 976 | 1017 | 993 | 1016 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
P06756 | 749 | 775 | 752 | 754 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 749 | 775 | 760 | 767 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 749 | 775 | 772 | 786 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 749 | 775 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 749 | 775 | 31 | 889 | Chain | ID=PRO_0000016302;Note=Integrin alpha-V heavy chain |
P06756 | 749 | 775 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 902 | 940 | 900 | 902 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 907 | 916 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 923 | 933 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 902 | 940 | 891 | 1048 | Chain | ID=PRO_0000016303;Note=Integrin alpha-V light chain |
P06756 | 902 | 940 | 852 | 914 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 902 | 940 | 904 | 909 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 902 | 940 | 935 | 938 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 902 | 940 | 904 | 906 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
P06756 | 466 | 501 | 470 | 485 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG |
P06756 | 466 | 501 | 494 | 499 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 466 | 501 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 466 | 501 | 31 | 889 | Chain | ID=PRO_0000016302;Note=Integrin alpha-V heavy chain |
P06756 | 466 | 501 | 491 | 502 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 466 | 501 | 488 | 488 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
P06756 | 466 | 501 | 419 | 482 | Repeat | Note=FG-GAP 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00803 |
P06756 | 466 | 501 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 573 | 619 | 585 | 593 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG |
P06756 | 573 | 619 | 601 | 603 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4G1E |
P06756 | 573 | 619 | 610 | 612 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG |
P06756 | 573 | 619 | 614 | 623 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG |
P06756 | 573 | 619 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 573 | 619 | 31 | 889 | Chain | ID=PRO_0000016302;Note=Integrin alpha-V heavy chain |
P06756 | 573 | 619 | 615 | 615 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:28117447;Dbxref=PMID:12754519,PMID:19159218,PMID:28117447 |
P06756 | 573 | 619 | 575 | 577 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG |
P06756 | 573 | 619 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 573 | 619 | 595 | 597 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4UM9 |
P06756 | 691 | 722 | 691 | 693 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4G1E |
P06756 | 691 | 722 | 697 | 701 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 691 | 722 | 703 | 705 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 691 | 722 | 708 | 712 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 691 | 722 | 715 | 717 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 691 | 722 | 722 | 731 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 691 | 722 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 691 | 722 | 31 | 889 | Chain | ID=PRO_0000016302;Note=Integrin alpha-V heavy chain |
P06756 | 691 | 722 | 698 | 711 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 691 | 722 | 704 | 704 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P06756 | 691 | 722 | 700 | 700 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P06756 | 691 | 722 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 749 | 775 | 752 | 754 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 749 | 775 | 760 | 767 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 749 | 775 | 772 | 786 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 749 | 775 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 749 | 775 | 31 | 889 | Chain | ID=PRO_0000016302;Note=Integrin alpha-V heavy chain |
P06756 | 749 | 775 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 902 | 940 | 900 | 902 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 907 | 916 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 923 | 933 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 902 | 940 | 891 | 1048 | Chain | ID=PRO_0000016303;Note=Integrin alpha-V light chain |
P06756 | 902 | 940 | 852 | 914 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 902 | 940 | 904 | 909 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
P06756 | 902 | 940 | 935 | 938 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 902 | 940 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 902 | 940 | 904 | 906 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 976 | 1017 | 971 | 982 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE |
P06756 | 976 | 1017 | 31 | 1048 | Chain | ID=PRO_0000016301;Note=Integrin alpha-V |
P06756 | 976 | 1017 | 891 | 1048 | Chain | ID=PRO_0000016303;Note=Integrin alpha-V light chain |
P06756 | 976 | 1017 | 980 | 980 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 976 | 1017 | 31 | 992 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 976 | 1017 | 1017 | 1048 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P06756 | 976 | 1017 | 993 | 1016 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ITGAV |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ITGAV |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for ITGAV |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGAV |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ITGAV |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ITGAV |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
P06756 | approved | DB00098 | Antithymocyte immunoglobulin (rabbit) | biotech | P06756 |
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RelatedDiseases for ITGAV |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |