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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 GIT1 |
Gene summary |
Gene information | Gene symbol | GIT1 | Gene ID | 28964 |
Gene name | GIT ArfGAP 1 | |
Synonyms | - | |
Cytomap | 17q11.2 | |
Type of gene | protein-coding | |
Description | ARF GTPase-activating protein GIT1ARF GAP GIT1CAT-1CAT1G protein-coupled receptor kinase interacting ArfGAP 1G protein-coupled receptor kinase-interactor 1GRK-interacting protein 1cool-associated and tyrosine-phosphorylated protein 1 | |
Modification date | 20200327 | |
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 |
GIT1 | GO:0032465 | regulation of cytokinesis | 23108400 |
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Gene structures and expression levels for GIT1 |
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 |
PG | UP | ENST00000225394.7 | GIT1-201:protein_coding:GIT1 | 2.042995e+02 | 8.323376e-01 | 1.959336e-03 | 2.351886e-02 |
PG | UP | ENST00000586574.5 | GIT1-215:retained_intron:GIT1 | 8.955260e+00 | 1.240768e+00 | 5.102529e-03 | 4.632226e-02 |
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 GIT1 |
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_114597 | chr17 | 29582925:29583037:29583483:29583591:29589327:29589431 | 29583483:29583591 |
exon_skip_120839 | chr17 | 29575288:29575470:29575630:29575703:29575812:29575829 | 29575630:29575703 |
exon_skip_132336 | chr17 | 29575630:29575703:29575812:29575898:29576078:29576131 | 29575812:29575898 |
exon_skip_136354 | chr17 | 29578299:29578371:29578731:29578779:29581338:29581380 | 29578731:29578779 |
exon_skip_157287 | chr17 | 29582925:29583037:29583483:29583591:29589327:29589596 | 29583483:29583591 |
exon_skip_161506 | chr17 | 29575630:29575703:29575812:29575898:29576078:29576128 | 29575812:29575898 |
exon_skip_168437 | chr17 | 29575630:29575703:29575812:29575829:29576078:29576128 | 29575812:29575829 |
exon_skip_17434 | chr17 | 29575815:29575898:29576078:29576131:29576220:29576434 | 29576078:29576131 |
exon_skip_197409 | chr17 | 29575630:29575703:29575812:29575829:29576078:29576131 | 29575812:29575829 |
exon_skip_242120 | chr17 | 29575288:29575470:29576078:29576131:29576220:29576434 | 29576078:29576131 |
exon_skip_24821 | chr17 | 29576888:29576996:29577136:29577247:29577645:29577742 | 29577136:29577247 |
exon_skip_254694 | chr17 | 29578734:29578779:29578962:29578988:29581338:29581380 | 29578962:29578988 |
exon_skip_260694 | chr17 | 29574513:29574914:29575079:29575142:29575288:29575470 | 29575079:29575142 |
exon_skip_261387 | chr17 | 29582760:29582803:29582925:29583037:29583483:29583591 | 29582925:29583037 |
exon_skip_282131 | chr17 | 29581338:29581380:29581742:29581836:29581927:29582144 | 29581742:29581836 |
exon_skip_32143 | chr17 | 29578732:29578779:29578962:29578988:29581338:29581380 | 29578962:29578988 |
exon_skip_46266 | chr17 | 29576888:29576996:29577184:29577247:29577645:29577742 | 29577184:29577247 |
exon_skip_72702 | chr17 | 29578731:29578779:29578962:29578988:29581338:29581380 | 29578962:29578988 |
exon_skip_89524 | chr17 | 29582925:29583037:29583483:29583616:29589327:29589431 | 29583483:29583616 |
exon_skip_92781 | chr17 | 29575344:29575470:29575630:29575703:29575812:29575829 | 29575630:29575703 |
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 |
exon_skip_72702 | MSBB_PG | 6.992593e-01 | 8.225455e-01 | -1.232862e-01 | 3.221043e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for GIT1 |
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 |
ENST00000225394 | 29575079 | 29575142 | Frame-shift |
ENST00000225394 | 29575630 | 29575703 | Frame-shift |
ENST00000225394 | 29577136 | 29577247 | Frame-shift |
ENST00000225394 | 29575812 | 29575898 | In-frame |
ENST00000225394 | 29576078 | 29576131 | 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 |
ENST00000225394 | 29576078 | 29576131 | 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 |
ENST00000225394 | 29575079 | 29575142 | Frame-shift |
ENST00000225394 | 29575630 | 29575703 | Frame-shift |
ENST00000225394 | 29577136 | 29577247 | Frame-shift |
ENST00000225394 | 29578731 | 29578779 | Frame-shift |
ENST00000225394 | 29581742 | 29581836 | Frame-shift |
ENST00000225394 | 29582925 | 29583037 | Frame-shift |
ENST00000225394 | 29575812 | 29575898 | In-frame |
ENST00000225394 | 29576078 | 29576131 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GIT1 |
p-ENSG00000108262_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 |
ENST00000225394 | 3785 | 761 | 29576078 | 29576131 | 1861 | 1913 | 537 | 554 |
ENST00000225394 | 3785 | 761 | 29575812 | 29575898 | 1915 | 2000 | 555 | 583 |
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 |
ENST00000225394 | 3785 | 761 | 29576078 | 29576131 | 1861 | 1913 | 537 | 554 |
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 |
ENST00000225394 | 3785 | 761 | 29576078 | 29576131 | 1861 | 1913 | 537 | 554 |
ENST00000225394 | 3785 | 761 | 29575812 | 29575898 | 1915 | 2000 | 555 | 583 |
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 |
Q9Y2X7 | 537 | 554 | 177 | 761 | Alternative sequence | ID=VSP_009667;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9Y2X7 | 537 | 554 | 1 | 761 | Chain | ID=PRO_0000074200;Note=ARF GTPase-activating protein GIT1 |
Q9Y2X7 | 537 | 554 | 537 | 537 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FF6 |
Q9Y2X7 | 537 | 554 | 545 | 545 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
Q9Y2X7 | 537 | 554 | 554 | 554 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
Q9Y2X7 | 555 | 583 | 177 | 761 | Alternative sequence | ID=VSP_009667;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9Y2X7 | 555 | 583 | 1 | 761 | Chain | ID=PRO_0000074200;Note=ARF GTPase-activating protein GIT1 |
Q9Y2X7 | 555 | 583 | 561 | 561 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FF6 |
Q9Y2X7 | 555 | 583 | 571 | 571 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z272 |
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 |
Q9Y2X7 | 537 | 554 | 177 | 761 | Alternative sequence | ID=VSP_009667;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9Y2X7 | 537 | 554 | 1 | 761 | Chain | ID=PRO_0000074200;Note=ARF GTPase-activating protein GIT1 |
Q9Y2X7 | 537 | 554 | 537 | 537 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FF6 |
Q9Y2X7 | 537 | 554 | 545 | 545 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
Q9Y2X7 | 537 | 554 | 554 | 554 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
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 |
Q9Y2X7 | 537 | 554 | 177 | 761 | Alternative sequence | ID=VSP_009667;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9Y2X7 | 537 | 554 | 1 | 761 | Chain | ID=PRO_0000074200;Note=ARF GTPase-activating protein GIT1 |
Q9Y2X7 | 537 | 554 | 537 | 537 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FF6 |
Q9Y2X7 | 537 | 554 | 545 | 545 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
Q9Y2X7 | 537 | 554 | 554 | 554 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
Q9Y2X7 | 555 | 583 | 177 | 761 | Alternative sequence | ID=VSP_009667;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9Y2X7 | 555 | 583 | 1 | 761 | Chain | ID=PRO_0000074200;Note=ARF GTPase-activating protein GIT1 |
Q9Y2X7 | 555 | 583 | 561 | 561 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FF6 |
Q9Y2X7 | 555 | 583 | 571 | 571 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z272 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GIT1 |
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 GIT1 |
- 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 GIT1 |
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 GIT1 |
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 GIT1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBFOX2 | exon_skip_72702 | 4.190276e-01 | 3.859594e-08 |
DLPFC | RBFOX2 | exon_skip_72702 | 7.997973e-01 | 3.911910e-77 |
FL | RBFOX2 | exon_skip_72702 | 5.552329e-01 | 3.028239e-17 |
HCC | RBFOX2 | exon_skip_254694 | 5.705440e-01 | 5.633813e-25 |
HCC | MSI1 | exon_skip_254694 | -6.796777e-01 | 2.377364e-38 |
IFG | RBFOX2 | exon_skip_72702 | 5.369965e-01 | 3.214856e-03 |
PCC | RBFOX2 | exon_skip_72702 | 6.549652e-01 | 1.004130e-27 |
PCC | MSI1 | exon_skip_72702 | -4.708268e-01 | 2.924319e-13 |
PG | RBFOX2 | exon_skip_72702 | 6.943043e-01 | 1.155326e-28 |
PG | MSI1 | exon_skip_72702 | -4.530776e-01 | 5.246074e-11 |
STG | RBFOX2 | exon_skip_72702 | 5.514278e-01 | 1.473363e-08 |
STG | MSI1 | exon_skip_72702 | -4.979140e-01 | 5.119265e-07 |
TC | RBFOX2 | exon_skip_32143 | 8.243198e-01 | 6.992496e-41 |
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RelatedDrugs for GIT1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GIT1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |