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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 GDI1 |
 Gene summary |
| Gene information | Gene symbol | GDI1 | Gene ID | 2664 |
| Gene name | GDP dissociation inhibitor 1 | |
| Synonyms | 1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4 | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | rab GDP dissociation inhibitor alphaGDI-1guanosine diphosphate dissociation inhibitor 1mental retardation, X-linked 48oligophrenin-2protein XAP-4rab GDI alpharab GDP-dissociation inhibitor, alphatestis secretory sperm-binding protein Li 208a | |
| Modification date | 20180519 | |
| UniProtAcc | P31150 | |
| Context | PubMed: GDI1 [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 GDI1 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 GDI1 |
| 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 GDI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513260 | X | 153665534:153665645:153666561:153666732:153666868:153666976 | 153666561:153666732 | ENSG00000203879.7 | ENST00000415109.1 |
| exon_skip_513262 | X | 153665534:153665645:153666821:153666976:153667110:153667210 | 153666821:153666976 | ENSG00000203879.7 | ENST00000445564.1 |
| exon_skip_513264 | X | 153665534:153665645:153666868:153666976:153667110:153667210 | 153666868:153666976 | ENSG00000203879.7 | ENST00000434049.1,ENST00000475976.1,ENST00000481304.1 |
| exon_skip_513267 | X | 153666868:153666976:153667110:153667210:153667351:153667398 | 153667110:153667210 | ENSG00000203879.7 | ENST00000434049.1,ENST00000485143.1,ENST00000475976.1,ENST00000445564.1,ENST00000481304.1,ENST00000447750.2,ENST00000415109.1,ENST00000491154.1 |
| exon_skip_513269 | X | 153667110:153667210:153667351:153667486:153668287:153668319 | 153667351:153667486 | ENSG00000203879.7 | ENST00000445564.1,ENST00000481304.1,ENST00000447750.2,ENST00000491154.1 |
| exon_skip_513273 | X | 153667351:153667486:153668056:153668144:153668287:153668319 | 153668056:153668144 | ENSG00000203879.7 | ENST00000434049.1 |
| exon_skip_513275 | X | 153668287:153668486:153668721:153668853:153669442:153669542 | 153668721:153668853 | ENSG00000203879.7 | ENST00000447750.2 |
| exon_skip_513278 | X | 153668721:153668853:153669442:153669542:153669969:153670141 | 153669442:153669542 | ENSG00000203879.7 | ENST00000489589.1,ENST00000447750.2 |
| exon_skip_513281 | X | 153670004:153670141:153670457:153670602:153670720:153670775 | 153670457:153670602 | ENSG00000203879.7 | ENST00000447750.2,ENST00000468483.1 |
| exon_skip_513286 | X | 153670457:153670602:153670720:153670775:153670866:153671075 | 153670720:153670775 | ENSG00000203879.7 | ENST00000447750.2,ENST00000465640.1,ENST00000468483.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GDI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513260 | X | 153665534:153665645:153666561:153666732:153666868:153666976 | 153666561:153666732 | ENSG00000203879.7 | ENST00000415109.1 |
| exon_skip_513262 | X | 153665534:153665645:153666821:153666976:153667110:153667210 | 153666821:153666976 | ENSG00000203879.7 | ENST00000445564.1 |
| exon_skip_513264 | X | 153665534:153665645:153666868:153666976:153667110:153667210 | 153666868:153666976 | ENSG00000203879.7 | ENST00000475976.1,ENST00000434049.1,ENST00000481304.1 |
| exon_skip_513267 | X | 153666868:153666976:153667110:153667210:153667351:153667398 | 153667110:153667210 | ENSG00000203879.7 | ENST00000447750.2,ENST00000475976.1,ENST00000445564.1,ENST00000434049.1,ENST00000415109.1,ENST00000481304.1,ENST00000485143.1,ENST00000491154.1 |
| exon_skip_513269 | X | 153667110:153667210:153667351:153667486:153668287:153668319 | 153667351:153667486 | ENSG00000203879.7 | ENST00000447750.2,ENST00000445564.1,ENST00000481304.1,ENST00000491154.1 |
| exon_skip_513273 | X | 153667351:153667486:153668056:153668144:153668287:153668319 | 153668056:153668144 | ENSG00000203879.7 | ENST00000434049.1 |
| exon_skip_513275 | X | 153668287:153668486:153668721:153668853:153669442:153669542 | 153668721:153668853 | ENSG00000203879.7 | ENST00000447750.2 |
| exon_skip_513278 | X | 153668721:153668853:153669442:153669542:153669969:153670141 | 153669442:153669542 | ENSG00000203879.7 | ENST00000447750.2,ENST00000489589.1 |
| exon_skip_513281 | X | 153670004:153670141:153670457:153670602:153670720:153670775 | 153670457:153670602 | ENSG00000203879.7 | ENST00000447750.2,ENST00000468483.1 |
| exon_skip_513286 | X | 153670457:153670602:153670720:153670775:153670866:153671075 | 153670720:153670775 | ENSG00000203879.7 | ENST00000447750.2,ENST00000468483.1,ENST00000465640.1 |
| 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 GDI1 |
| 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 |
| ENST00000447750 | 153667110 | 153667210 | Frame-shift |
| ENST00000447750 | 153669442 | 153669542 | Frame-shift |
| ENST00000447750 | 153670457 | 153670602 | Frame-shift |
| ENST00000447750 | 153670720 | 153670775 | Frame-shift |
| ENST00000447750 | 153667351 | 153667486 | In-frame |
| ENST00000447750 | 153668721 | 153668853 | 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 |
| ENST00000447750 | 153667110 | 153667210 | Frame-shift |
| ENST00000447750 | 153669442 | 153669542 | Frame-shift |
| ENST00000447750 | 153670457 | 153670602 | Frame-shift |
| ENST00000447750 | 153670720 | 153670775 | Frame-shift |
| ENST00000447750 | 153667351 | 153667486 | In-frame |
| ENST00000447750 | 153668721 | 153668853 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GDI1 |
| 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 |
| ENST00000447750 | 2491 | 447 | 153667351 | 153667486 | 589 | 723 | 84 | 129 |
| ENST00000447750 | 2491 | 447 | 153668721 | 153668853 | 923 | 1054 | 196 | 239 |
| 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 |
| ENST00000447750 | 2491 | 447 | 153667351 | 153667486 | 589 | 723 | 84 | 129 |
| ENST00000447750 | 2491 | 447 | 153668721 | 153668853 | 923 | 1054 | 196 | 239 |
| 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 |
| P31150 | 84 | 129 | 1 | 447 | Chain | ID=PRO_0000056671;Note=Rab GDP dissociation inhibitor alpha |
| P31150 | 84 | 129 | 92 | 92 | Natural variant | ID=VAR_008130;Note=In MRX41%3B causes reduced binding and recycling of RAB3A. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9620768;Dbxref=dbSNP:rs121434607,PMID:9620768 |
| P31150 | 196 | 239 | 1 | 447 | Chain | ID=PRO_0000056671;Note=Rab GDP dissociation inhibitor alpha |
| 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 |
| P31150 | 84 | 129 | 1 | 447 | Chain | ID=PRO_0000056671;Note=Rab GDP dissociation inhibitor alpha |
| P31150 | 84 | 129 | 92 | 92 | Natural variant | ID=VAR_008130;Note=In MRX41%3B causes reduced binding and recycling of RAB3A. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9620768;Dbxref=dbSNP:rs121434607,PMID:9620768 |
| P31150 | 196 | 239 | 1 | 447 | Chain | ID=PRO_0000056671;Note=Rab GDP dissociation inhibitor alpha |
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SNVs in the skipped exons for GDI1 |
| - 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 |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_513267 | 153667111 | 153667210 | 153667141 | 153667141 | Frame_Shift_Del | C | - | p.P62fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_513267 | 153667111 | 153667210 | 153667189 | 153667189 | Frame_Shift_Del | C | - | p.P78fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_513269 | 153667352 | 153667486 | 153667434 | 153667434 | Frame_Shift_Del | G | - | p.K112fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_513269 | 153667352 | 153667486 | 153667441 | 153667441 | Frame_Shift_Del | A | - | p.K115fs |
| LUSC | TCGA-46-3768-01 | exon_skip_513267 | 153667111 | 153667210 | 153667172 | 153667172 | Nonsense_Mutation | G | A | p.W72* |
| - 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 |
| EN_ENDOMETRIUM | 153669443 | 153669542 | 153669458 | 153669459 | Frame_Shift_Ins | - | G | p.G246fs |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153666869 | 153666976 | 153666941 | 153666941 | Missense_Mutation | G | A | p.G40R |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153666822 | 153666976 | 153666941 | 153666941 | Missense_Mutation | G | A | p.G40R |
| SW962_VULVA | 153667111 | 153667210 | 153667171 | 153667171 | Missense_Mutation | T | A | p.W72R |
| HSC39_STOMACH | 153667352 | 153667486 | 153667412 | 153667412 | Missense_Mutation | T | C | p.V105A |
| NCIH1793_LUNG | 153667352 | 153667486 | 153667417 | 153667417 | Missense_Mutation | G | T | p.G107C |
| NCIH2110_LUNG | 153667352 | 153667486 | 153667417 | 153667417 | Missense_Mutation | G | T | p.G107C |
| NCIH1793_LUNG | 153667352 | 153667486 | 153667417 | 153667418 | Missense_Mutation | GG | TT | p.G107F |
| NCIH1793_LUNG | 153667352 | 153667486 | 153667418 | 153667418 | Missense_Mutation | G | T | p.G107V |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153668722 | 153668853 | 153668756 | 153668756 | Missense_Mutation | C | A | p.R208S |
| SNU1040_LARGE_INTESTINE | 153668722 | 153668853 | 153668757 | 153668757 | Missense_Mutation | G | A | p.R208H |
| NCIH1155_LUNG | 153668722 | 153668853 | 153668772 | 153668772 | Missense_Mutation | G | A | p.S213N |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 153668722 | 153668853 | 153668835 | 153668835 | Missense_Mutation | T | G | p.L234R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153670458 | 153670602 | 153670470 | 153670470 | Missense_Mutation | G | A | p.C335Y |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153670458 | 153670602 | 153670497 | 153670497 | Missense_Mutation | C | T | p.A344V |
| OV56_OVARY | 153670458 | 153670602 | 153670503 | 153670503 | Missense_Mutation | A | G | p.Q346R |
| TE125T_FIBROBLAST | 153670458 | 153670602 | 153670545 | 153670545 | Missense_Mutation | C | T | p.T360M |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153670721 | 153670775 | 153670746 | 153670746 | Missense_Mutation | G | A | p.E388K |
| SNU175_LARGE_INTESTINE | 153667111 | 153667210 | 153667210 | 153667210 | Splice_Site | G | A | p.G85R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GDI1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GDI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GDI1 |
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RelatedDrugs for GDI1 |
| 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 GDI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GDI1 | C1136249 | Mental Retardation, X-Linked | 2 | CTD_human |
| GDI1 | C3887939 | MENTAL RETARDATION, X-LINKED 41 | 2 | UNIPROT |
| GDI1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
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