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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 ITGA3 |
 Gene summary |
| Gene information | Gene symbol | ITGA3 | Gene ID | 3675 |
| Gene name | integrin subunit alpha 3 | |
| Synonyms | CD49C|FRP-2|GAP-B3|GAPB3|ILNEB|MSK18|VCA-2|VL3A|VLA3a | |
| Cytomap | 17q21.33 | |
| Type of gene | protein-coding | |
| Description | integrin alpha-3CD49 antigen-like family member Calpha 3 subunit of VLA-3 receptorantigen CD49Cantigen identified by monoclonal antibody J143galactoprotein B3integrin alpha 3integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)testi | |
| Modification date | 20180522 | |
| UniProtAcc | P26006 | |
| Context | PubMed: ITGA3 [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 |
| ITGA3 | GO:1903078 | positive regulation of protein localization to plasma membrane | 10455171 |
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Exon skipping events across known transcript of Ensembl for ITGA3 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 ITGA3 |
| 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 ITGA3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153902 | 17 | 48133338:48133380:48133801:48134009:48141440:48141541 | 48133801:48134009 | ENSG00000005884.13 | ENST00000544892.1 |
| exon_skip_153904 | 17 | 48141891:48141971:48145419:48145669:48148207:48148294 | 48145419:48145669 | ENSG00000005884.13 | ENST00000320031.8,ENST00000007722.7,ENST00000505306.1 |
| exon_skip_153911 | 17 | 48148236:48148294:48148674:48148882:48149349:48149546 | 48148674:48148882 | ENSG00000005884.13 | ENST00000544892.1,ENST00000506401.2,ENST00000320031.8,ENST00000007722.7,ENST00000505306.1 |
| exon_skip_153922 | 17 | 48148674:48148882:48149349:48149546:48151279:48151368 | 48149349:48149546 | ENSG00000005884.13 | ENST00000544892.1,ENST00000506401.2,ENST00000320031.8,ENST00000007722.7,ENST00000505306.1 |
| exon_skip_153925 | 17 | 48149523:48149546:48151279:48151368:48151507:48151575 | 48151279:48151368 | ENSG00000005884.13 | ENST00000544892.1,ENST00000506401.2,ENST00000505552.1,ENST00000510809.1,ENST00000320031.8,ENST00000007722.7,ENST00000505306.1 |
| exon_skip_153935 | 17 | 48153988:48154045:48154337:48154485:48154742:48154811 | 48154337:48154485 | ENSG00000005884.13 | ENST00000320031.8,ENST00000007722.7,ENST00000506827.1 |
| exon_skip_153940 | 17 | 48154763:48154811:48155409:48155489:48155570:48155648 | 48155409:48155489 | ENSG00000005884.13 | ENST00000320031.8,ENST00000007722.7,ENST00000507771.1,ENST00000506827.1,ENST00000505306.1 |
| exon_skip_153943 | 17 | 48156187:48156290:48156439:48156622:48156798:48156847 | 48156439:48156622 | ENSG00000005884.13 | ENST00000320031.8,ENST00000515147.1,ENST00000007722.7,ENST00000505306.1 |
| exon_skip_153944 | 17 | 48157680:48157739:48158460:48158557:48158673:48158744 | 48158460:48158557 | ENSG00000005884.13 | ENST00000504417.1 |
| exon_skip_153952 | 17 | 48165107:48165233:48165588:48165730:48166473:48167093 | 48165588:48165730 | ENSG00000005884.13 | ENST00000320031.8,ENST00000506437.1,ENST00000505306.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITGA3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153902 | 17 | 48133338:48133380:48133801:48134009:48141440:48141541 | 48133801:48134009 | ENSG00000005884.13 | ENST00000544892.1 |
| exon_skip_153904 | 17 | 48141891:48141971:48145419:48145669:48148207:48148294 | 48145419:48145669 | ENSG00000005884.13 | ENST00000505306.1,ENST00000320031.8,ENST00000007722.7 |
| exon_skip_153911 | 17 | 48148236:48148294:48148674:48148882:48149349:48149546 | 48148674:48148882 | ENSG00000005884.13 | ENST00000506401.2,ENST00000544892.1,ENST00000505306.1,ENST00000320031.8,ENST00000007722.7 |
| exon_skip_153922 | 17 | 48148674:48148882:48149349:48149546:48151279:48151368 | 48149349:48149546 | ENSG00000005884.13 | ENST00000506401.2,ENST00000544892.1,ENST00000505306.1,ENST00000320031.8,ENST00000007722.7 |
| exon_skip_153925 | 17 | 48149523:48149546:48151279:48151368:48151507:48151575 | 48151279:48151368 | ENSG00000005884.13 | ENST00000506401.2,ENST00000544892.1,ENST00000505306.1,ENST00000320031.8,ENST00000007722.7,ENST00000505552.1,ENST00000510809.1 |
| exon_skip_153935 | 17 | 48153988:48154045:48154337:48154485:48154742:48154811 | 48154337:48154485 | ENSG00000005884.13 | ENST00000320031.8,ENST00000007722.7,ENST00000506827.1 |
| exon_skip_153940 | 17 | 48154763:48154811:48155409:48155489:48155570:48155648 | 48155409:48155489 | ENSG00000005884.13 | ENST00000505306.1,ENST00000320031.8,ENST00000007722.7,ENST00000506827.1,ENST00000507771.1 |
| exon_skip_153943 | 17 | 48156187:48156290:48156439:48156622:48156798:48156847 | 48156439:48156622 | ENSG00000005884.13 | ENST00000505306.1,ENST00000320031.8,ENST00000007722.7,ENST00000515147.1 |
| exon_skip_153944 | 17 | 48157680:48157739:48158460:48158557:48158673:48158744 | 48158460:48158557 | ENSG00000005884.13 | ENST00000504417.1 |
| exon_skip_153952 | 17 | 48165107:48165233:48165588:48165730:48166473:48167093 | 48165588:48165730 | ENSG00000005884.13 | ENST00000505306.1,ENST00000320031.8,ENST00000506437.1 |
| 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 ITGA3 |
| 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 |
| ENST00000007722 | 48145419 | 48145669 | Frame-shift |
| ENST00000007722 | 48148674 | 48148882 | Frame-shift |
| ENST00000007722 | 48149349 | 48149546 | Frame-shift |
| ENST00000007722 | 48151279 | 48151368 | Frame-shift |
| ENST00000007722 | 48154337 | 48154485 | Frame-shift |
| ENST00000007722 | 48155409 | 48155489 | Frame-shift |
| ENST00000007722 | 48156439 | 48156622 | 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 |
| ENST00000007722 | 48145419 | 48145669 | Frame-shift |
| ENST00000007722 | 48148674 | 48148882 | Frame-shift |
| ENST00000007722 | 48149349 | 48149546 | Frame-shift |
| ENST00000007722 | 48151279 | 48151368 | Frame-shift |
| ENST00000007722 | 48154337 | 48154485 | Frame-shift |
| ENST00000007722 | 48155409 | 48155489 | Frame-shift |
| ENST00000007722 | 48156439 | 48156622 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITGA3 |
| 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 |
| ENST00000007722 | 3682 | 1051 | 48156439 | 48156622 | 2401 | 2583 | 800 | 861 |
| 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 |
| ENST00000007722 | 3682 | 1051 | 48156439 | 48156622 | 2401 | 2583 | 800 | 861 |
| 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 |
| P26006 | 800 | 861 | 33 | 1051 | Chain | ID=PRO_0000016238;Note=Integrin alpha-3 |
| P26006 | 800 | 861 | 33 | 872 | Chain | ID=PRO_0000016239;Note=Integrin alpha-3 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26006 | 800 | 861 | 846 | 904 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
| P26006 | 800 | 861 | 841 | 841 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26006 | 800 | 861 | 857 | 857 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26006 | 800 | 861 | 840 | 840 | Natural variant | ID=VAR_055969;Note=G->S;Dbxref=dbSNP:rs2301626 |
| P26006 | 800 | 861 | 33 | 991 | 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 |
| P26006 | 800 | 861 | 33 | 1051 | Chain | ID=PRO_0000016238;Note=Integrin alpha-3 |
| P26006 | 800 | 861 | 33 | 872 | Chain | ID=PRO_0000016239;Note=Integrin alpha-3 heavy chain;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26006 | 800 | 861 | 846 | 904 | Disulfide bond | Note=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610 |
| P26006 | 800 | 861 | 841 | 841 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26006 | 800 | 861 | 857 | 857 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26006 | 800 | 861 | 840 | 840 | Natural variant | ID=VAR_055969;Note=G->S;Dbxref=dbSNP:rs2301626 |
| P26006 | 800 | 861 | 33 | 991 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ITGA3 |
| - 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-A39Y-01 | exon_skip_153911 | 48148675 | 48148882 | 48148738 | 48148738 | Frame_Shift_Del | C | - | p.A272fs |
| COAD | TCGA-CK-5916-01 | exon_skip_153922 | 48149350 | 48149546 | 48149405 | 48149405 | Frame_Shift_Del | G | - | p.V338fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_153922 | 48149350 | 48149546 | 48149479 | 48149479 | Frame_Shift_Del | C | - | p.G363fs |
| PCPG | TCGA-WB-A821-01 | exon_skip_153952 | 48165589 | 48165730 | 48165686 | 48165686 | Frame_Shift_Del | C | - | p.T1048fs |
| LUAD | TCGA-05-4418-01 | exon_skip_153911 | 48148675 | 48148882 | 48148712 | 48148713 | Frame_Shift_Ins | - | A | p.P263fs |
| LUAD | TCGA-05-4418-01 | exon_skip_153911 | 48148675 | 48148882 | 48148712 | 48148713 | Frame_Shift_Ins | - | A | p.PK263fs |
| STAD | TCGA-BR-4184-01 | exon_skip_153904 | 48145420 | 48145669 | 48145498 | 48145498 | Nonsense_Mutation | C | T | p.R165* |
| STAD | TCGA-BR-4184-01 | exon_skip_153904 | 48145420 | 48145669 | 48145498 | 48145498 | Nonsense_Mutation | C | T | p.R165X |
| LIHC | TCGA-CC-A5UE-01 | exon_skip_153922 | 48149350 | 48149546 | 48149396 | 48149396 | Nonsense_Mutation | G | T | p.E336* |
| LIHC | TCGA-CC-A5UE-01 | exon_skip_153922 | 48149350 | 48149546 | 48149396 | 48149396 | Nonsense_Mutation | G | T | p.E336X |
| READ | TCGA-DY-A0XA-01 | exon_skip_153940 | 48155410 | 48155489 | 48155479 | 48155479 | Nonsense_Mutation | C | T | p.Q737X |
| BLCA | TCGA-DK-A2I4-01 | exon_skip_153940 | 48155410 | 48155489 | 48155409 | 48155409 | Splice_Site | G | A | p.M714_splice |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_153940 | 48155410 | 48155489 | 48155490 | 48155490 | Splice_Site | G | A | p.T740_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 |
| HEC108_ENDOMETRIUM | 48149350 | 48149546 | 48149373 | 48149373 | Frame_Shift_Del | C | - | p.A328fs |
| NCIH2009_LUNG | 48133802 | 48134009 | 48133831 | 48133831 | Missense_Mutation | C | G | p.R10G |
| OE21_OESOPHAGUS | 48133802 | 48134009 | 48133885 | 48133885 | Missense_Mutation | T | C | p.C28R |
| 639V_URINARY_TRACT | 48133802 | 48134009 | 48133954 | 48133954 | Missense_Mutation | C | T | p.L51F |
| SNU1040_LARGE_INTESTINE | 48133802 | 48134009 | 48133967 | 48133967 | Missense_Mutation | C | T | p.S55L |
| SNGM_ENDOMETRIUM | 48145420 | 48145669 | 48145429 | 48145429 | Missense_Mutation | C | T | p.H142Y |
| SNU1040_LARGE_INTESTINE | 48145420 | 48145669 | 48145433 | 48145433 | Missense_Mutation | G | A | p.R143H |
| HEC1_ENDOMETRIUM | 48145420 | 48145669 | 48145474 | 48145474 | Missense_Mutation | C | T | p.R157C |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48145420 | 48145669 | 48145495 | 48145495 | Missense_Mutation | G | A | p.V164M |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48145420 | 48145669 | 48145548 | 48145548 | Missense_Mutation | C | A | p.H181Q |
| YH13_CENTRAL_NERVOUS_SYSTEM | 48145420 | 48145669 | 48145628 | 48145628 | Missense_Mutation | A | G | p.N208S |
| HUH1_LIVER | 48148675 | 48148882 | 48148685 | 48148685 | Missense_Mutation | G | A | p.M254I |
| SLR25_KIDNEY | 48148675 | 48148882 | 48148719 | 48148719 | Missense_Mutation | A | T | p.I266F |
| SNU407_LARGE_INTESTINE | 48148675 | 48148882 | 48148761 | 48148761 | Missense_Mutation | G | A | p.A280T |
| NCIH1963_LUNG | 48148675 | 48148882 | 48148842 | 48148842 | Missense_Mutation | T | A | p.F307I |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48149350 | 48149546 | 48149357 | 48149357 | Missense_Mutation | G | A | p.D323N |
| TC71_BONE | 48149350 | 48149546 | 48149372 | 48149372 | Missense_Mutation | G | A | p.A328T |
| MDAPCA2B_PROSTATE | 48151280 | 48151368 | 48151322 | 48151322 | Missense_Mutation | A | G | p.Y400C |
| MDAMB361_BREAST | 48151280 | 48151368 | 48151340 | 48151340 | Missense_Mutation | C | G | p.S406C |
| SNU175_LARGE_INTESTINE | 48151280 | 48151368 | 48151344 | 48151344 | Missense_Mutation | G | T | p.K407N |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48154338 | 48154485 | 48154369 | 48154369 | Missense_Mutation | C | T | p.L652F |
| CW2_LARGE_INTESTINE | 48154338 | 48154485 | 48154388 | 48154388 | Missense_Mutation | C | T | p.T658M |
| ECC10_STOMACH | 48154338 | 48154485 | 48154429 | 48154429 | Missense_Mutation | G | A | p.E672K |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48154338 | 48154485 | 48154459 | 48154459 | Missense_Mutation | G | A | p.A682T |
| SNU387_LIVER | 48156440 | 48156622 | 48156522 | 48156522 | Missense_Mutation | A | C | p.K828T |
| NCIH810_LUNG | 48156440 | 48156622 | 48156530 | 48156530 | Missense_Mutation | C | G | p.L831V |
| BT474_BREAST | 48165589 | 48165730 | 48165616 | 48165616 | Missense_Mutation | C | T | p.R1025C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48165589 | 48165730 | 48165646 | 48165646 | Missense_Mutation | G | A | p.A1035T |
| SNU1040_LARGE_INTESTINE | 48165589 | 48165730 | 48165647 | 48165647 | Missense_Mutation | C | T | p.A1035V |
| KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48165589 | 48165730 | 48165691 | 48165691 | Missense_Mutation | G | A | p.D1050N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGA3 |
| 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_153922 | 17 | 48148674:48148882:48149349:48149546:48151279:48151368 | 48149349:48149546 | ENST00000544892.1,ENST00000506401.2,ENST00000320031.8,ENST00000007722.7,ENST00000505306.1 | KIRC | rs2269772 | chr17:48149386 | A/G | 2.75e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGA3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGA3 |
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RelatedDrugs for ITGA3 |
| 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 ITGA3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ITGA3 | C3553636 | INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL | 2 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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