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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 GNB5 |
 Gene summary |
| Gene information | Gene symbol | GNB5 | Gene ID | 10681 |
| Gene name | G protein subunit beta 5 | |
| Synonyms | GB5|IDDCA|LADCI | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | guanine nucleotide-binding protein subunit beta-5G protein, beta subunit 5Lgbeta5guanine nucleotide binding protein (G protein), beta 5guanine nucleotide-binding protein, beta subunit 5Ltransducin beta chain 5 | |
| Modification date | 20180519 | |
| UniProtAcc | O14775 | |
| Context | PubMed: GNB5 [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 |
| GNB5 | GO:0007212 | dopamine receptor signaling pathway | 27677260 |
| GNB5 | GO:0043547 | positive regulation of GTPase activity | 10521509 |
| GNB5 | GO:1901386 | negative regulation of voltage-gated calcium channel activity | 11007869|12606627 |
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Exon skipping events across known transcript of Ensembl for GNB5 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 GNB5 |
| 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 GNB5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_127161 | 15 | 52414405:52414965:52416669:52416836:52418144:52418241 | 52416669:52416836 | ENSG00000069966.14 | ENST00000396335.4,ENST00000559348.1,ENST00000557936.1,ENST00000358784.7,ENST00000261837.7 |
| exon_skip_127162 | 15 | 52416669:52416836:52418144:52418241:52420392:52420441 | 52418144:52418241 | ENSG00000069966.14 | ENST00000396335.4,ENST00000559348.1,ENST00000558519.1,ENST00000557936.1,ENST00000358784.7,ENST00000261837.7 |
| exon_skip_127163 | 15 | 52418144:52418241:52420392:52420441:52425574:52425666 | 52420392:52420441 | ENSG00000069966.14 | ENST00000396335.4,ENST00000559348.1,ENST00000358784.7,ENST00000559541.1,ENST00000261837.7 |
| exon_skip_127166 | 15 | 52420392:52420441:52420840:52420892:52425574:52425666 | 52420840:52420892 | ENSG00000069966.14 | ENST00000558519.1 |
| exon_skip_127167 | 15 | 52425574:52425666:52427809:52427953:52433336:52433408 | 52427809:52427953 | ENSG00000069966.14 | ENST00000558519.1,ENST00000358784.7,ENST00000261837.7 |
| exon_skip_127169 | 15 | 52433402:52433469:52439655:52439732:52442080:52442122 | 52439655:52439732 | ENSG00000069966.14 | ENST00000358784.7,ENST00000261837.7 |
| exon_skip_127170 | 15 | 52439655:52439732:52442080:52442122:52446136:52446273 | 52442080:52442122 | ENSG00000069966.14 | ENST00000358784.7,ENST00000261837.7,ENST00000560075.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GNB5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_127161 | 15 | 52414405:52414965:52416669:52416836:52418144:52418241 | 52416669:52416836 | ENSG00000069966.14 | ENST00000261837.7,ENST00000396335.4,ENST00000557936.1,ENST00000358784.7,ENST00000559348.1 |
| exon_skip_127162 | 15 | 52416669:52416836:52418144:52418241:52420392:52420441 | 52418144:52418241 | ENSG00000069966.14 | ENST00000261837.7,ENST00000396335.4,ENST00000557936.1,ENST00000358784.7,ENST00000559348.1,ENST00000558519.1 |
| exon_skip_127163 | 15 | 52418144:52418241:52420392:52420441:52425574:52425666 | 52420392:52420441 | ENSG00000069966.14 | ENST00000261837.7,ENST00000396335.4,ENST00000358784.7,ENST00000559348.1,ENST00000559541.1 |
| exon_skip_127166 | 15 | 52420392:52420441:52420840:52420892:52425574:52425666 | 52420840:52420892 | ENSG00000069966.14 | ENST00000558519.1 |
| exon_skip_127167 | 15 | 52425574:52425666:52427809:52427953:52433336:52433408 | 52427809:52427953 | ENSG00000069966.14 | ENST00000261837.7,ENST00000358784.7,ENST00000558519.1 |
| exon_skip_127168 | 15 | 52427809:52427953:52433336:52433469:52442080:52442122 | 52433336:52433469 | ENSG00000069966.14 | ENST00000561313.1 |
| exon_skip_127169 | 15 | 52433402:52433469:52439655:52439732:52442080:52442122 | 52439655:52439732 | ENSG00000069966.14 | ENST00000261837.7,ENST00000358784.7 |
| exon_skip_127170 | 15 | 52439655:52439732:52442080:52442122:52446136:52446273 | 52442080:52442122 | ENSG00000069966.14 | ENST00000261837.7,ENST00000358784.7,ENST00000560075.1 |
| 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 GNB5 |
| 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 |
| ENST00000261837 | 52416669 | 52416836 | Frame-shift |
| ENST00000261837 | 52418144 | 52418241 | Frame-shift |
| ENST00000261837 | 52420392 | 52420441 | Frame-shift |
| ENST00000261837 | 52439655 | 52439732 | Frame-shift |
| ENST00000261837 | 52427809 | 52427953 | In-frame |
| ENST00000261837 | 52442080 | 52442122 | 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 |
| ENST00000261837 | 52416669 | 52416836 | Frame-shift |
| ENST00000261837 | 52418144 | 52418241 | Frame-shift |
| ENST00000261837 | 52420392 | 52420441 | Frame-shift |
| ENST00000261837 | 52439655 | 52439732 | Frame-shift |
| ENST00000261837 | 52427809 | 52427953 | In-frame |
| ENST00000261837 | 52442080 | 52442122 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GNB5 |
| 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 |
| ENST00000261837 | 3108 | 395 | 52442080 | 52442122 | 442 | 483 | 125 | 139 |
| ENST00000261837 | 3108 | 395 | 52427809 | 52427953 | 694 | 837 | 209 | 257 |
| 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 |
| ENST00000261837 | 3108 | 395 | 52442080 | 52442122 | 442 | 483 | 125 | 139 |
| ENST00000261837 | 3108 | 395 | 52427809 | 52427953 | 694 | 837 | 209 | 257 |
| 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 |
| O14775 | 125 | 139 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 125 | 139 | 103 | 142 | Repeat | Note=WD 1 |
| O14775 | 209 | 257 | 140 | 209 | Alternative sequence | ID=VSP_039101;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| O14775 | 209 | 257 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 209 | 257 | 213 | 213 | Natural variant | ID=VAR_049270;Note=A->V;Dbxref=dbSNP:rs34637551 |
| O14775 | 209 | 257 | 193 | 234 | Repeat | Note=WD 3 |
| O14775 | 209 | 257 | 236 | 278 | Repeat | Note=WD 4 |
| O14775 | 209 | 257 | 223 | 223 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| O14775 | 125 | 139 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 125 | 139 | 103 | 142 | Repeat | Note=WD 1 |
| O14775 | 209 | 257 | 140 | 209 | Alternative sequence | ID=VSP_039101;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| O14775 | 209 | 257 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 209 | 257 | 213 | 213 | Natural variant | ID=VAR_049270;Note=A->V;Dbxref=dbSNP:rs34637551 |
| O14775 | 209 | 257 | 193 | 234 | Repeat | Note=WD 3 |
| O14775 | 209 | 257 | 236 | 278 | Repeat | Note=WD 4 |
| O14775 | 209 | 257 | 223 | 223 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for GNB5 |
| - 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. |
GNB5_LUAD_exon_skip_127162_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_127162 | 52418145 | 52418241 | 52418187 | 52418187 | Frame_Shift_Del | T | - | p.S323fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_127169 | 52439656 | 52439732 | 52439674 | 52439674 | Frame_Shift_Del | C | - | p.G159fs |
| UCS | TCGA-N9-A4Q7-01 | exon_skip_127161 | 52416670 | 52416836 | 52416726 | 52416726 | Nonsense_Mutation | G | A | p.R374* |
| LUAD | TCGA-05-4389-01 | exon_skip_127162 | 52418145 | 52418241 | 52418243 | 52418243 | Splice_Site | T | C | p.C305_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-05-4389-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_127162 | |
| Skipped exon start: 52418145 | |
| Skipped exon end: 52418241 | |
| Mutation start: 52418243 | |
| Mutation end: 52418243 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: p.C305_splice | |
exon_skip_127162_LUAD_TCGA-05-4389-01.png | |
exon_skip_425876_LUAD_TCGA-05-4389-01.png | |
exon_skip_52425_LUAD_TCGA-05-4389-01.png | |
exon_skip_52428_LUAD_TCGA-05-4389-01.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 |
| NB1_AUTONOMIC_GANGLIA | 52416670 | 52416836 | 52416752 | 52416752 | Missense_Mutation | C | A | p.G365V |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52416670 | 52416836 | 52416773 | 52416773 | Missense_Mutation | G | C | p.S358C |
| SLR20_KIDNEY | 52416670 | 52416836 | 52416801 | 52416801 | Missense_Mutation | T | A | p.I349F |
| COLO741_SKIN | 52418145 | 52418241 | 52418172 | 52418172 | Missense_Mutation | C | G | p.A328P |
| SLR23_KIDNEY | 52418145 | 52418241 | 52418187 | 52418187 | Missense_Mutation | T | C | p.S323G |
| KM12_LARGE_INTESTINE | 52427810 | 52427953 | 52427830 | 52427830 | Missense_Mutation | C | T | p.G251R |
| NCIH835_LUNG | 52427810 | 52427953 | 52427860 | 52427860 | Missense_Mutation | G | A | p.L241F |
| JHU028_LUNG | 52427810 | 52427953 | 52427899 | 52427899 | Missense_Mutation | G | T | p.Q228K |
| LS123_LARGE_INTESTINE | 52416670 | 52416836 | 52416726 | 52416726 | Nonsense_Mutation | G | A | p.R374* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GNB5 |
| 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 GNB5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GNB5 |
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RelatedDrugs for GNB5 |
| 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 GNB5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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