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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 GLCCI1 |
 Gene summary |
| Gene information | Gene symbol | GLCCI1 | Gene ID | 113263 |
| Gene name | glucocorticoid induced 1 | |
| Synonyms | FAM117C|GCTR|GIG18|TSSN1 | |
| Cytomap | 7p21.3 | |
| Type of gene | protein-coding | |
| Description | glucocorticoid-induced transcript 1 proteinglucocorticoid induced transcript 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86VQ1 | |
| Context | PubMed: GLCCI1 [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 GLCCI1 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 GLCCI1 |
| 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 GLCCI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464453 | 7 | 8043537:8043689:8062112:8062199:8095065:8095179 | 8062112:8062199 | ENSG00000106415.8 | ENST00000489405.1,ENST00000470583.1 |
| exon_skip_464454 | 7 | 8062112:8062199:8064344:8064444:8095062:8095179 | 8064344:8064444 | ENSG00000106415.8 | ENST00000474269.1 |
| exon_skip_464456 | 7 | 8062112:8062199:8095062:8095179:8099725:8099739 | 8095062:8095179 | ENSG00000106415.8 | ENST00000430798.1,ENST00000223145.5 |
| exon_skip_464457 | 7 | 8062112:8062199:8095065:8095179:8099725:8099739 | 8095065:8095179 | ENSG00000106415.8 | ENST00000489405.1,ENST00000470583.1 |
| exon_skip_464458 | 7 | 8095136:8095179:8099725:8099739:8110550:8110578 | 8099725:8099739 | ENSG00000106415.8 | ENST00000430798.1 |
| exon_skip_464459 | 7 | 8095136:8095179:8099725:8099878:8110550:8110578 | 8099725:8099878 | ENSG00000106415.8 | ENST00000489405.1,ENST00000438949.1,ENST00000414914.1,ENST00000223145.5,ENST00000474269.1 |
| exon_skip_464460 | 7 | 8099725:8099878:8110550:8110761:8124526:8124647 | 8110550:8110761 | ENSG00000106415.8 | ENST00000438949.1,ENST00000223145.5 |
| exon_skip_464463 | 7 | 8110712:8110761:8124526:8124647:8125822:8125870 | 8124526:8124647 | ENSG00000106415.8 | ENST00000223145.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GLCCI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464453 | 7 | 8043537:8043689:8062112:8062199:8095065:8095179 | 8062112:8062199 | ENSG00000106415.8 | ENST00000470583.1,ENST00000489405.1 |
| exon_skip_464454 | 7 | 8062112:8062199:8064344:8064444:8095062:8095179 | 8064344:8064444 | ENSG00000106415.8 | ENST00000474269.1 |
| exon_skip_464456 | 7 | 8062112:8062199:8095062:8095179:8099725:8099739 | 8095062:8095179 | ENSG00000106415.8 | ENST00000223145.5,ENST00000430798.1 |
| exon_skip_464457 | 7 | 8062112:8062199:8095065:8095179:8099725:8099739 | 8095065:8095179 | ENSG00000106415.8 | ENST00000470583.1,ENST00000489405.1 |
| exon_skip_464458 | 7 | 8095136:8095179:8099725:8099739:8110550:8110578 | 8099725:8099739 | ENSG00000106415.8 | ENST00000430798.1 |
| exon_skip_464459 | 7 | 8095136:8095179:8099725:8099878:8110550:8110578 | 8099725:8099878 | ENSG00000106415.8 | ENST00000223145.5,ENST00000414914.1,ENST00000474269.1,ENST00000489405.1,ENST00000438949.1 |
| exon_skip_464460 | 7 | 8099725:8099878:8110550:8110761:8124526:8124647 | 8110550:8110761 | ENSG00000106415.8 | ENST00000223145.5,ENST00000438949.1 |
| exon_skip_464463 | 7 | 8110712:8110761:8124526:8124647:8125822:8125870 | 8124526:8124647 | ENSG00000106415.8 | ENST00000223145.5 |
| 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 GLCCI1 |
| 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 |
| ENST00000223145 | 8110550 | 8110761 | Frame-shift |
| ENST00000223145 | 8124526 | 8124647 | Frame-shift |
| ENST00000223145 | 8095062 | 8095179 | In-frame |
| ENST00000223145 | 8099725 | 8099878 | 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 |
| ENST00000223145 | 8110550 | 8110761 | Frame-shift |
| ENST00000223145 | 8124526 | 8124647 | Frame-shift |
| ENST00000223145 | 8095062 | 8095179 | In-frame |
| ENST00000223145 | 8099725 | 8099878 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GLCCI1 |
| 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 |
| ENST00000223145 | 4760 | 547 | 8095062 | 8095179 | 1254 | 1370 | 232 | 271 |
| ENST00000223145 | 4760 | 547 | 8099725 | 8099878 | 1371 | 1523 | 271 | 322 |
| 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 |
| ENST00000223145 | 4760 | 547 | 8095062 | 8095179 | 1254 | 1370 | 232 | 271 |
| ENST00000223145 | 4760 | 547 | 8099725 | 8099878 | 1371 | 1523 | 271 | 322 |
| 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 |
| Q86VQ1 | 232 | 271 | 1 | 547 | Chain | ID=PRO_0000256128;Note=Glucocorticoid-induced transcript 1 protein |
| Q86VQ1 | 232 | 271 | 225 | 254 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86VQ1 | 232 | 271 | 258 | 258 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 |
| Q86VQ1 | 232 | 271 | 266 | 266 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q86VQ1 | 271 | 322 | 1 | 547 | Chain | ID=PRO_0000256128;Note=Glucocorticoid-induced transcript 1 protein |
| Q86VQ1 | 271 | 322 | 303 | 303 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:23186163;Dbxref=PMID:18691976,PMID:23186163 |
| 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 |
| Q86VQ1 | 232 | 271 | 1 | 547 | Chain | ID=PRO_0000256128;Note=Glucocorticoid-induced transcript 1 protein |
| Q86VQ1 | 232 | 271 | 225 | 254 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86VQ1 | 232 | 271 | 258 | 258 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 |
| Q86VQ1 | 232 | 271 | 266 | 266 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q86VQ1 | 271 | 322 | 1 | 547 | Chain | ID=PRO_0000256128;Note=Glucocorticoid-induced transcript 1 protein |
| Q86VQ1 | 271 | 322 | 303 | 303 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:23186163;Dbxref=PMID:18691976,PMID:23186163 |
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SNVs in the skipped exons for GLCCI1 |
| - 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. |
GLCCI1_BRCA_exon_skip_464459_psi_boxplot.png |
| - 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 |
| BRCA | TCGA-BH-A209-01 | exon_skip_464459 | 8099726 | 8099878 | 8099783 | 8099784 | Frame_Shift_Del | TC | - | p.S291fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_464460 | 8110551 | 8110761 | 8110595 | 8110595 | Frame_Shift_Del | T | - | p.H337fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_464460 | 8110551 | 8110761 | 8110691 | 8110691 | Frame_Shift_Del | T | - | p.P369fs |
| BLCA | TCGA-K4-A54R-01 | exon_skip_464453 | 8062113 | 8062199 | 8062158 | 8062158 | Nonsense_Mutation | C | T | p.Q219* |
| UCEC | TCGA-AP-A051-01 | exon_skip_464453 | 8062113 | 8062199 | 8062188 | 8062188 | Nonsense_Mutation | C | T | p.Q229* |
| UCEC | TCGA-B5-A11O-01 | exon_skip_464463 | 8124527 | 8124647 | 8124613 | 8124613 | Nonsense_Mutation | G | T | p.G422* |
| COAD | TCGA-A6-2678-01 | exon_skip_464463 | 8124527 | 8124647 | 8124622 | 8124622 | Nonsense_Mutation | C | T | p.R425X |
| LUAD | TCGA-55-6712-01 | exon_skip_464453 | 8062113 | 8062199 | 8062112 | 8062112 | Splice_Site | G | A | p.T204_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BH-A209-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_464459 | |
| Skipped exon start: 8099726 | |
| Skipped exon end: 8099878 | |
| Mutation start: 8099783 | |
| Mutation end: 8099784 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TC | |
| Mutation seq: - | |
| AAchange: p.S291fs | |
exon_skip_25860_BRCA_TCGA-BH-A209-01.png | |
exon_skip_25867_BRCA_TCGA-BH-A209-01.png | |
exon_skip_464459_BRCA_TCGA-BH-A209-01.png | |
| - 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 |
| NCIH889_LUNG | 8099726 | 8099739 | 8099731 | 8099731 | Frame_Shift_Del | T | - | p.T273fs |
| NCIH889_LUNG | 8099726 | 8099878 | 8099731 | 8099731 | Frame_Shift_Del | T | - | p.T273fs |
| UBLC1_URINARY_TRACT | 8124527 | 8124647 | 8124564 | 8124564 | Frame_Shift_Del | A | - | p.S406fs |
| HCT116_LARGE_INTESTINE | 8062113 | 8062199 | 8062162 | 8062163 | Frame_Shift_Ins | - | T | p.S221fs |
| TE15_OESOPHAGUS | 8095063 | 8095179 | 8095070 | 8095070 | Missense_Mutation | C | G | p.A235G |
| TE15_OESOPHAGUS | 8095066 | 8095179 | 8095070 | 8095070 | Missense_Mutation | C | G | p.A235G |
| HCC2108_LUNG | 8095063 | 8095179 | 8095104 | 8095104 | Missense_Mutation | G | T | p.Q246H |
| HCC2108_LUNG | 8095066 | 8095179 | 8095104 | 8095104 | Missense_Mutation | G | T | p.Q246H |
| MORCPR_LUNG | 8095063 | 8095179 | 8095104 | 8095104 | Missense_Mutation | G | T | p.Q246H |
| MORCPR_LUNG | 8095066 | 8095179 | 8095104 | 8095104 | Missense_Mutation | G | T | p.Q246H |
| HCC1569_BREAST | 8095063 | 8095179 | 8095138 | 8095138 | Missense_Mutation | T | C | p.S258P |
| HCC1569_BREAST | 8095066 | 8095179 | 8095138 | 8095138 | Missense_Mutation | T | C | p.S258P |
| COLO741_SKIN | 8099726 | 8099878 | 8099781 | 8099781 | Missense_Mutation | C | T | p.S290L |
| HT115_LARGE_INTESTINE | 8099726 | 8099878 | 8099787 | 8099787 | Missense_Mutation | T | G | p.V292G |
| MEWO_SKIN | 8099726 | 8099878 | 8099790 | 8099790 | Missense_Mutation | C | T | p.S293L |
| STS0421_SOFT_TISSUE | 8110551 | 8110761 | 8110645 | 8110645 | Missense_Mutation | A | G | p.Q354R |
| EFO27_OVARY | 8110551 | 8110761 | 8110710 | 8110710 | Missense_Mutation | C | G | p.Q376E |
| IGR39_SKIN | 8110551 | 8110761 | 8110747 | 8110747 | Missense_Mutation | A | G | p.Y388C |
| IGR37_SKIN | 8110551 | 8110761 | 8110747 | 8110747 | Missense_Mutation | A | G | p.Y388C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8124527 | 8124647 | 8124549 | 8124549 | Missense_Mutation | A | T | p.L400F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8124527 | 8124647 | 8124599 | 8124599 | Missense_Mutation | G | A | p.R417Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLCCI1 |
| 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 GLCCI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLCCI1 |
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RelatedDrugs for GLCCI1 |
| 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 GLCCI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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