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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for GIGYF1 |
 Gene summary |
| Gene information | Gene symbol | GIGYF1 | Gene ID | 64599 |
| Gene name | GRB10 interacting GYF protein 1 | |
| Synonyms | GYF1|PERQ1 | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | GRB10-interacting GYF protein 1PERQ amino acid-rich with GYF domain-containing protein 1postmeiotic segregation increased 2-like 12 | |
| Modification date | 20200313 | |
| UniProtAcc | A2VDH9, | |
| Context |
| 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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Gene structures and expression levels for GIGYF1 |
| 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. |
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ENSG00000146830
| 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 |
| 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 GIGYF1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_115790 | chr7 | 100683308:100683444:100683550:100683632:100683818:100683916 | 100683550:100683632 |
| exon_skip_136563 | chr7 | 100679507:100681771:100681864:100681993:100682072:100682235 | 100681864:100681993 |
| exon_skip_137676 | chr7 | 100688598:100688718:100689302:100689555:100693937:100694037 | 100689302:100689555 |
| exon_skip_250255 | chr7 | 100683304:100683444:100683550:100683632:100683818:100683918 | 100683550:100683632 |
| exon_skip_256537 | chr7 | 100684838:100684894:100685049:100685146:100685344:100685481 | 100685049:100685146 |
| exon_skip_263599 | chr7 | 100683308:100683444:100683550:100683632:100683818:100683918 | 100683550:100683632 |
| exon_skip_27036 | chr7 | 100688451:100688515:100688592:100688718:100689302:100689555 | 100688592:100688718 |
| exon_skip_276977 | chr7 | 100688598:100688718:100689302:100689555:100693937:100693968 | 100689302:100689555 |
| exon_skip_293057 | chr7 | 100687359:100687406:100687505:100687616:100687788:100687883 | 100687505:100687616 |
| exon_skip_54383 | chr7 | 100682322:100682482:100682590:100682777:100683012:100683230 | 100682590:100682777 |
| exon_skip_75641 | chr7 | 100688204:100688307:100688451:100688515:100688592:100688718 | 100688451:100688515 |
| exon_skip_76874 | chr7 | 100686649:100686819:100687006:100687046:100687298:100687406 | 100687006:100687046 |
| exon_skip_87106 | chr7 | 100683550:100683632:100683818:100683918:100684020:100684157 | 100683818:100683918 |
| exon_skip_9878 | chr7 | 100679507:100681771:100681864:100681993:100682072:100682220 | 100681864:100681993 |
| 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 GIGYF1 |
| 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 |
| ENST00000646601 | 100688451 | 100688515 | 3UTR-3UTR |
| ENST00000646601 | 100688592 | 100688718 | 3UTR-3UTR |
| ENST00000646601 | 100689302 | 100689555 | 3UTR-3UTR |
| ENST00000275732 | 100681864 | 100681993 | Frame-shift |
| ENST00000646601 | 100681864 | 100681993 | Frame-shift |
| ENST00000275732 | 100682590 | 100682777 | Frame-shift |
| ENST00000646601 | 100682590 | 100682777 | Frame-shift |
| ENST00000275732 | 100683550 | 100683632 | Frame-shift |
| ENST00000646601 | 100683550 | 100683632 | Frame-shift |
| ENST00000275732 | 100683818 | 100683918 | Frame-shift |
| ENST00000646601 | 100683818 | 100683918 | Frame-shift |
| 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 |
| ENST00000646601 | 100688592 | 100688718 | 3UTR-3UTR |
| 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 |
| ENST00000646601 | 100688592 | 100688718 | 3UTR-3UTR |
| ENST00000646601 | 100689302 | 100689555 | 3UTR-3UTR |
| ENST00000275732 | 100681864 | 100681993 | Frame-shift |
| ENST00000646601 | 100681864 | 100681993 | Frame-shift |
| ENST00000275732 | 100683550 | 100683632 | Frame-shift |
| ENST00000646601 | 100683550 | 100683632 | Frame-shift |
| ENST00000275732 | 100683818 | 100683918 | Frame-shift |
| ENST00000646601 | 100683818 | 100683918 | Frame-shift |
| ENST00000275732 | 100685049 | 100685146 | Frame-shift |
| ENST00000646601 | 100685049 | 100685146 | Frame-shift |
| ENST00000275732 | 100687006 | 100687046 | Frame-shift |
| ENST00000646601 | 100687006 | 100687046 | Frame-shift |
| ENST00000275732 | 100687505 | 100687616 | Frame-shift |
| ENST00000646601 | 100687505 | 100687616 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GIGYF1 |
p-ENSG00000146830_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GIGYF1 |
| 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 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-6859-5p | chr7:100689384-100689391 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-6726-5p | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-4254 | chr7:100689539-100689546 | 8mer-1a | chr7:100689524-100689546 | 142.00 | -15.20 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-3916 | chr7:100689384-100689391 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-3085-5p | chr7:100689320-100689327 | 8mer-1a | chr7:100689314-100689335 | 146.00 | -21.85 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-4300 | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-920 | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| Mayo | ENST00000646601 | 100688592 | 100688718 | hsa-miR-493-3p | chr7:100688696-100688703 | 8mer-1a | chr7:100688680-100688703 | 143.00 | -24.14 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-668-5p | chr7:100689419-100689426 | 8mer-1a | chr7:100689405-100689428 | 156.00 | -27.83 |
| Mayo | ENST00000646601 | 100688592 | 100688718 | hsa-miR-1225-5p | chr7:100688648-100688655 | 8mer-1a | chr7:100688643-100688663 | 146.00 | -18.29 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-6887-3p | chr7:100689401-100689408 | 8mer-1a | chr7:100689387-100689408 | 163.00 | -31.24 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-3125 | chr7:100689384-100689391 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-7976 | chr7:100689344-100689351 | 8mer-1a | chr7:100689339-100689361 | 146.00 | -32.08 |
| Mayo | ENST00000646601 | 100688592 | 100688718 | hsa-miR-1248 | chr7:100688610-100688617 | 8mer-1a | chr7:100688604-100688627 | 179.00 | -35.79 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-5591-5p | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-874-3p | chr7:100689345-100689352 | 8mer-1a | chr7:100689339-100689361 | 146.00 | -32.08 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-877-5p | chr7:100689385-100689392 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| Mayo | ENST00000646601 | 100689302 | 100689555 | hsa-miR-661 | chr7:100689437-100689444 | 8mer-1a | chr7:100689420-100689444 | 169.00 | -35.03 |
| Mayo | ENST00000646601 | 100688592 | 100688718 | hsa-miR-4290 | chr7:100688615-100688622 | 8mer-1a | chr7:100688604-100688627 | 179.00 | -35.79 |
| MSBB | ENST00000646601 | 100688592 | 100688718 | hsa-miR-493-3p | chr7:100688696-100688703 | 8mer-1a | chr7:100688680-100688703 | 143.00 | -24.14 |
| MSBB | ENST00000646601 | 100688592 | 100688718 | hsa-miR-1225-5p | chr7:100688648-100688655 | 8mer-1a | chr7:100688643-100688663 | 146.00 | -18.29 |
| MSBB | ENST00000646601 | 100688592 | 100688718 | hsa-miR-1248 | chr7:100688610-100688617 | 8mer-1a | chr7:100688604-100688627 | 179.00 | -35.79 |
| MSBB | ENST00000646601 | 100688592 | 100688718 | hsa-miR-4290 | chr7:100688615-100688622 | 8mer-1a | chr7:100688604-100688627 | 179.00 | -35.79 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-6859-5p | chr7:100689384-100689391 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-6726-5p | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378f | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-4254 | chr7:100689539-100689546 | 8mer-1a | chr7:100689524-100689546 | 142.00 | -15.20 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-3916 | chr7:100689384-100689391 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-3085-5p | chr7:100689320-100689327 | 8mer-1a | chr7:100689314-100689335 | 146.00 | -21.85 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378c | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-326 | chr7:100688487-100688494 | 8mer-1a | chr7:100688469-100688494 | 142.00 | -24.32 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-4300 | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-920 | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-6861-5p | chr7:100688485-100688492 | 8mer-1a | chr7:100688469-100688494 | 142.00 | -24.32 |
| ROSMAP | ENST00000646601 | 100688592 | 100688718 | hsa-miR-493-3p | chr7:100688696-100688703 | 8mer-1a | chr7:100688680-100688703 | 143.00 | -24.14 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-668-5p | chr7:100689419-100689426 | 8mer-1a | chr7:100689405-100689428 | 156.00 | -27.83 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-422a | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100688592 | 100688718 | hsa-miR-1225-5p | chr7:100688648-100688655 | 8mer-1a | chr7:100688643-100688663 | 146.00 | -18.29 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-6887-3p | chr7:100689401-100689408 | 8mer-1a | chr7:100689387-100689408 | 163.00 | -31.24 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-330-5p | chr7:100688487-100688494 | 8mer-1a | chr7:100688469-100688494 | 142.00 | -24.32 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-3125 | chr7:100689384-100689391 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378i | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378b | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-7976 | chr7:100689344-100689351 | 8mer-1a | chr7:100689339-100689361 | 146.00 | -32.08 |
| ROSMAP | ENST00000646601 | 100688592 | 100688718 | hsa-miR-1248 | chr7:100688610-100688617 | 8mer-1a | chr7:100688604-100688627 | 179.00 | -35.79 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378d | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-5591-5p | chr7:100689527-100689534 | 8mer-1a | chr7:100689515-100689534 | 162.00 | -22.52 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-874-3p | chr7:100689345-100689352 | 8mer-1a | chr7:100689339-100689361 | 146.00 | -32.08 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378a-3p | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378h | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100688451 | 100688515 | hsa-miR-378e | chr7:100688497-100688504 | 8mer-1a | chr7:100688483-100688504 | 146.00 | -18.42 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-877-5p | chr7:100689385-100689392 | 8mer-1a | chr7:100689380-100689398 | 156.00 | -22.11 |
| ROSMAP | ENST00000646601 | 100689302 | 100689555 | hsa-miR-661 | chr7:100689437-100689444 | 8mer-1a | chr7:100689420-100689444 | 169.00 | -35.03 |
| ROSMAP | ENST00000646601 | 100688592 | 100688718 | hsa-miR-4290 | chr7:100688615-100688622 | 8mer-1a | chr7:100688604-100688627 | 179.00 | -35.79 |
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SNVs in the skipped exons for GIGYF1 |
| - 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 GIGYF1 |
| 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 GIGYF1 |
| 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 GIGYF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4B | exon_skip_245022 | -4.223757e-01 | 3.968072e-08 |
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RelatedDrugs for GIGYF1 |
| 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 GIGYF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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