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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 SHBG |
Gene summary |
| Gene information | Gene symbol | SHBG | Gene ID | 6462 |
| Gene name | sex hormone binding globulin | |
| Synonyms | ABP|SBP|TEBG | |
| Cytomap | 17p13.1 | |
| Type of gene | protein-coding | |
| Description | sex hormone-binding globulinsex steroid-binding proteintestis-specific androgen-binding proteintestosterone-binding beta-globulintestosterone-estradiol-binding globulintestosterone-estrogen-binding globulin | |
| Modification date | 20180519 | |
| UniProtAcc | P04278 | |
| Context | PubMed: SHBG [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 SHBG 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 SHBG |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SHBG |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148860 | 17 | 7533997:7534187:7534517:7534679:7534906:7535066 | 7534517:7534679 | ENSG00000129214.10 | ENST00000574539.1,ENST00000576830.1,ENST00000416273.3,ENST00000575314.1,ENST00000441599.2,ENST00000380450.4,ENST00000570527.1,ENST00000570547.1,ENST00000340624.5 |
| exon_skip_148861 | 17 | 7533997:7534187:7534906:7535066:7536521:7536672 | 7534906:7535066 | ENSG00000129214.10 | ENST00000576152.1,ENST00000576478.1 |
| exon_skip_148862 | 17 | 7534960:7535066:7535196:7535333:7536069:7536277 | 7535196:7535333 | ENSG00000129214.10 | ENST00000572262.1,ENST00000575314.1,ENST00000380450.4,ENST00000570527.1,ENST00000575903.1,ENST00000570353.1 |
| exon_skip_148865 | 17 | 7534960:7535066:7535196:7535333:7536521:7536635 | 7535196:7535333 | ENSG00000129214.10 | ENST00000574539.1,ENST00000571153.1,ENST00000416273.3,ENST00000576728.1,ENST00000340624.5 |
| exon_skip_148869 | 17 | 7535196:7535333:7536069:7536277:7536521:7536635 | 7536069:7536277 | ENSG00000129214.10 | ENST00000572262.1,ENST00000575314.1,ENST00000380450.4,ENST00000570527.1,ENST00000575903.1,ENST00000570353.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SHBG |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148860 | 17 | 7533997:7534187:7534517:7534679:7534906:7535066 | 7534517:7534679 | ENSG00000129214.10 | ENST00000574539.1,ENST00000575314.1,ENST00000570547.1,ENST00000340624.5,ENST00000441599.2,ENST00000380450.4,ENST00000570527.1,ENST00000416273.3,ENST00000576830.1 |
| exon_skip_148862 | 17 | 7534960:7535066:7535196:7535333:7536069:7536277 | 7535196:7535333 | ENSG00000129214.10 | ENST00000575314.1,ENST00000572262.1,ENST00000380450.4,ENST00000570527.1,ENST00000570353.1,ENST00000575903.1 |
| exon_skip_148865 | 17 | 7534960:7535066:7535196:7535333:7536521:7536635 | 7535196:7535333 | ENSG00000129214.10 | ENST00000574539.1,ENST00000576728.1,ENST00000340624.5,ENST00000416273.3,ENST00000571153.1 |
| exon_skip_148869 | 17 | 7535196:7535333:7536069:7536277:7536521:7536635 | 7536069:7536277 | ENSG00000129214.10 | ENST00000575314.1,ENST00000572262.1,ENST00000380450.4,ENST00000570527.1,ENST00000570353.1,ENST00000575903.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SHBG |
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 |
| ENST00000380450 | 7535196 | 7535333 | Frame-shift |
| ENST00000380450 | 7536069 | 7536277 | Frame-shift |
| ENST00000380450 | 7534517 | 7534679 | 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 |
| ENST00000380450 | 7535196 | 7535333 | Frame-shift |
| ENST00000380450 | 7536069 | 7536277 | Frame-shift |
| ENST00000380450 | 7534517 | 7534679 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SHBG |
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 |
| ENST00000380450 | 1282 | 402 | 7534517 | 7534679 | 425 | 586 | 131 | 185 |
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 |
| ENST00000380450 | 1282 | 402 | 7534517 | 7534679 | 425 | 586 | 131 | 185 |
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 |
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 |
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SNVs in the skipped exons for SHBG |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| COAD | TCGA-A6-5665-01 | exon_skip_148860 | 7534518 | 7534679 | 7534640 | 7534641 | Frame_Shift_Ins | - | G | p.L172fs |
| THYM | TCGA-XU-A92T-01 | exon_skip_148869 | 7536070 | 7536277 | 7536099 | 7536100 | Frame_Shift_Ins | - | G | p.P294fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_148861 | 7534907 | 7535066 | 7535063 | 7535063 | Nonsense_Mutation | C | T | p.R238* |
| BLCA | TCGA-FD-A6TC-01 | exon_skip_148869 | 7536070 | 7536277 | 7536092 | 7536092 | Nonsense_Mutation | C | A | p.S292* |
- 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 |
| 2313287_STOMACH | 7534518 | 7534679 | 7534641 | 7534641 | Frame_Shift_Del | G | - | p.G174fs |
| CL34_LARGE_INTESTINE | 7534518 | 7534679 | 7534640 | 7534641 | Frame_Shift_Ins | - | G | p.G173fs |
| NCIH1944_LUNG | 7534518 | 7534679 | 7534579 | 7534579 | Missense_Mutation | G | A | p.R152H |
| 2313287_STOMACH | 7534518 | 7534679 | 7534600 | 7534600 | Missense_Mutation | C | T | p.P159L |
| CCLFPEDS0008T_SOFT_TISSUE | 7534518 | 7534679 | 7534644 | 7534644 | Missense_Mutation | G | A | p.G174R |
| DU145_PROSTATE | 7534907 | 7535066 | 7534914 | 7534914 | Missense_Mutation | C | T | p.P188L |
| TE4_OESOPHAGUS | 7534907 | 7535066 | 7534938 | 7534938 | Missense_Mutation | G | A | p.R196Q |
| CORL321_PLEURA | 7534907 | 7535066 | 7534964 | 7534964 | Missense_Mutation | G | A | p.E205K |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7534907 | 7535066 | 7534983 | 7534983 | Missense_Mutation | C | A | p.P211H |
| EFO27_OVARY | 7535197 | 7535333 | 7535292 | 7535292 | Missense_Mutation | C | T | p.P271S |
| JHUEM1_ENDOMETRIUM | 7536070 | 7536277 | 7536232 | 7536232 | Missense_Mutation | C | A | p.L339I |
| COLO792_SKIN | 7535197 | 7535333 | 7535331 | 7535331 | Nonsense_Mutation | C | T | p.Q284* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SHBG |
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 SHBG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SHBG |
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RelatedDrugs for SHBG |
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 |
| P04278 | DB00421 | Spironolactone | Sex hormone-binding globulin | small molecule | approved | |
| P04278 | DB00655 | Estrone | Sex hormone-binding globulin | small molecule | approved | |
| P04278 | DB00675 | Tamoxifen | Sex hormone-binding globulin | small molecule | approved | |
| P04278 | DB00977 | Ethinylestradiol | Sex hormone-binding globulin | small molecule | approved | |
| P04278 | DB09371 | Norethynodrel | Sex hormone-binding globulin | small molecule | approved | |
| P04278 | DB11619 | Gestrinone | Sex hormone-binding globulin | small molecule | approved | |
| P04278 | DB00179 | Masoprocol | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB00255 | Diethylstilbestrol | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB00367 | Levonorgestrel | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB00539 | Toremifene | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB00882 | Clomifene | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB00890 | Dienestrol | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB01593 | Zinc | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB14487 | Zinc acetate | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB14533 | Zinc chloride | Sex hormone-binding globulin | small molecule | approved|investigational | |
| P04278 | DB04573 | Estriol | Sex hormone-binding globulin | small molecule | approved|investigational|vet_approved | |
| P04278 | DB00396 | Progesterone | Sex hormone-binding globulin | small molecule | approved|vet_approved | |
| P04278 | DB04824 | Phenolphthalein | Sex hormone-binding globulin | small molecule | approved|withdrawn |
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RelatedDiseases for SHBG |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SHBG | C0001973 | Alcoholic Intoxication, Chronic | 2 | CTD_human;PSYGENET |
| SHBG | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| SHBG | C0524620 | Metabolic Syndrome X | 2 | CTD_human |
| SHBG | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| SHBG | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
| SHBG | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| SHBG | C0242350 | Erectile dysfunction | 1 | CTD_human |