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Gene: ENSG00000165474 |
Summary for GJB2 |
 Gene summary |
| Gene information | Ensembl ID | ENSG00000165474 | Gene symbol | GJB2 |
| Gene name | gap junction protein beta 2 | |
| HGNC | 4284 | |
| Entrez ID | 2706 | |
| Gene type | protein_coding | |
| Synonyms | GJB2|CX26|NSRD1 | |
| UniProtAcc | P29033 |
| Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| Cancer therapeutic drugs associated with this gene(NCI). |
| Gene ID | Gene Name | Drug ID | Drug Name | Drug Type | Cancer |
Top |
Structure and expression level for GJB2 |
| AS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure. ∗For more information on exon skipping events please check the ExonskipDB database. ∗For more information on exon skipping events please check the CAeditome database. |
 |
| Landscape of gene expressions across multiple cancer types. |
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| Differentially expressed gene analysis between tumor male and tumor female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor male and normal male samples. |
 |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| GJB2 | 1.37e+04 | 3.74e+00 | 6.53e-01 | 5.72e+00 | 1.04e-08 | 1.33e-07 | BLCA |
| GJB2 | 3.46e+04 | 3.76e+00 | 7.34e-01 | 5.12e+00 | 3.10e-07 | 9.03e-06 | ESCA |
| GJB2 | 9.75e+02 | -2.58e+00 | 5.48e-01 | -4.70e+00 | 2.58e-06 | 1.70e-05 | CHOL |
| Differentially expressed gene analysis between tumor female and normal female samples. |
 |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| GJB2 | 1.79e+03 | -1.17e+00 | 2.91e-01 | -4.01e+00 | 5.95e-05 | 2.02e-04 | LIHC |
| GJB2 | 2.49e+03 | 4.26e+00 | 1.56e-01 | 2.73e+01 | 3.89e-164 | 5.94e-162 | BRCA |
Top |
Sex-biased somatic mutation for GJB2 |
| ∗For more information on exon skipping events please check the ExonskipDB database. |
| Gene ID | Cancer Type | Hugo Symbol | Male | Female | pval | or | ci.up | ci.low | adjPval |
Top |
DNA methylation with beta values for GJB2 |
| Landscape of DNA methylation across multiple cancer types. |
 |
| Differentially expressed CpG sites between male tumor and female tumor patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BRCA | cg09790502 | chr13:20192927 | CGI:chr13:20192069-20193770 | promoter | 5.19e-02 | 2.10e-01 | -2.36e+00 | 1.83e-02 | 3.38e-02 | -1.58e-01 |
| BRCA | cg09640682 | chr13:20192877 | CGI:chr13:20192069-20193770 | UTR,promoter,exon,gene body | 8.88e-02 | 2.35e-01 | -2.35e+00 | 1.85e-02 | 3.40e-02 | -1.46e-01 |
| BRCA | cg02861781 | chr13:20193359 | CGI:chr13:20192069-20193770 | promoter | 1.93e-01 | 3.48e-01 | -2.55e+00 | 1.09e-02 | 2.76e-02 | -1.55e-01 |
| BRCA | cg23486142 | chr13:20193468 | CGI:chr13:20192069-20193770 | promoter | 2.33e-01 | 4.20e-01 | -2.02e+00 | 4.33e-02 | 4.73e-02 | -1.87e-01 |
| BRCA | cg27326226 | chr13:20193639 | CGI:chr13:20192069-20193770 | promoter | 2.09e-01 | 3.67e-01 | -2.43e+00 | 1.51e-02 | 3.13e-02 | -1.57e-01 |
| BRCA | cg09195389 | chr13:20193829 | CGI:chr13:20192069-20193770 | promoter | 4.76e-01 | 6.22e-01 | -1.99e+00 | 4.69e-02 | 4.88e-02 | -1.46e-01 |
| GBM | cg09195389 | chr13:20193829 | CGI:chr13:20192069-20193770 | promoter | 3.32e-01 | 4.56e-01 | -2.24e+00 | 2.53e-02 | 3.92e-02 | -1.23e-01 |
| ACC | cg11054936 | chr13:20192031 | CGI:chr13:20192069-20193770 | promoter,gene body | 5.73e-01 | 4.21e-01 | 2.32e+00 | 2.04e-02 | 3.58e-02 | 1.52e-01 |
| DLBC | cg10939579 | chr13:20194170 | CGI:chr13:20192069-20193770 | promoter | 2.78e-01 | 4.39e-01 | 2.83e+00 | 4.59e-03 | 1.27e-02 | -1.61e-01 |
| CHOL | cg10939579 | chr13:20194170 | CGI:chr13:20192069-20193770 | promoter | 7.26e-01 | 5.51e-01 | 3.06e+00 | 2.24e-03 | 6.92e-03 | 1.76e-01 |
| Differentially expressed CpG sites between male tumor and male normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| KIRC | cg09195389 | chr13:20193829 | CGI:chr13:20192069-20193770 | promoter | 4.38e-01 | 3.05e-01 | 3.75e+00 | 1.75e-04 | 3.34e-04 | 1.33e-01 |
| KIRC | cg13528344 | chr13:20193999 | CGI:chr13:20192069-20193770 | promoter | 3.73e-01 | 2.25e-01 | 3.70e+00 | 2.12e-04 | 3.95e-04 | 1.49e-01 |
| KIRC | cg10939579 | chr13:20194170 | CGI:chr13:20192069-20193770 | promoter | 5.95e-01 | 2.77e-01 | 3.40e+00 | 6.78e-04 | 1.10e-03 | 3.18e-01 |
| LUAD | cg10939579 | chr13:20194170 | CGI:chr13:20192069-20193770 | promoter | 5.36e-01 | 2.55e-01 | 3.53e+00 | 4.09e-04 | 9.16e-04 | 2.81e-01 |
| LIHC | cg05850327 | chr13:20194097 | CGI:chr13:20192069-20193770 | promoter | 6.97e-01 | 5.90e-01 | 3.80e+00 | 1.47e-04 | 2.90e-04 | 1.07e-01 |
| LIHC | cg27326226 | chr13:20193639 | CGI:chr13:20192069-20193770 | promoter | 2.73e-01 | 1.44e-01 | 3.69e+00 | 2.24e-04 | 4.21e-04 | 1.28e-01 |
| LIHC | cg09195389 | chr13:20193829 | CGI:chr13:20192069-20193770 | promoter | 6.20e-01 | 4.78e-01 | 4.33e+00 | 1.48e-05 | 3.85e-05 | 1.42e-01 |
| LIHC | cg13528344 | chr13:20193999 | CGI:chr13:20192069-20193770 | promoter | 5.94e-01 | 4.32e-01 | 4.53e+00 | 6.03e-06 | 1.76e-05 | 1.62e-01 |
| LIHC | cg26883974 | chr13:20194384 | CGI:chr13:20192069-20193770 | promoter | 6.17e-01 | 4.69e-01 | 4.16e+00 | 3.15e-05 | 7.46e-05 | 1.49e-01 |
| KIRP | cg11054936 | chr13:20192031 | CGI:chr13:20192069-20193770 | promoter,gene body | 2.05e-01 | 3.05e-01 | -4.60e+00 | 4.19e-06 | 1.80e-05 | -1.00e-01 |
| Differentially expressed CpG sites between female tumor and female normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BRCA | cg05850327 | chr13:20194097 | CGI:chr13:20192069-20193770 | promoter | 5.25e-01 | 3.26e-01 | 7.27e+00 | 3.66e-13 | 1.16e-12 | 1.99e-01 |
| BRCA | cg02861781 | chr13:20193359 | CGI:chr13:20192069-20193770 | promoter | 1.93e-01 | 6.89e-02 | 9.27e+00 | 1.82e-20 | 1.02e-19 | 1.24e-01 |
| BRCA | cg23486142 | chr13:20193468 | CGI:chr13:20192069-20193770 | promoter | 2.33e-01 | 7.60e-02 | 7.31e+00 | 2.64e-13 | 8.47e-13 | 1.57e-01 |
| BRCA | cg27326226 | chr13:20193639 | CGI:chr13:20192069-20193770 | promoter | 2.09e-01 | 1.01e-01 | 5.30e+00 | 1.18e-07 | 2.39e-07 | 1.08e-01 |
| BRCA | cg09195389 | chr13:20193829 | CGI:chr13:20192069-20193770 | promoter | 4.76e-01 | 3.62e-01 | 6.09e+00 | 1.16e-09 | 2.80e-09 | 1.15e-01 |
| BRCA | cg10939579 | chr13:20194170 | CGI:chr13:20192069-20193770 | promoter | 4.91e-01 | 2.58e-01 | 3.77e+00 | 1.62e-04 | 2.36e-04 | 2.33e-01 |
| BRCA | cg26883974 | chr13:20194384 | CGI:chr13:20192069-20193770 | promoter | 5.25e-01 | 3.52e-01 | 8.31e+00 | 9.19e-17 | 3.83e-16 | 1.74e-01 |
| BRCA | cg07921371 | chr13:20194397 | CGI:chr13:20192069-20193770 | promoter | 5.01e-01 | 3.96e-01 | 5.14e+00 | 2.79e-07 | 5.47e-07 | 1.06e-01 |
| LUAD | cg07921371 | chr13:20194397 | CGI:chr13:20192069-20193770 | promoter | 4.32e-01 | 3.06e-01 | 2.37e+00 | 1.77e-02 | 2.37e-02 | 1.26e-01 |
| THCA | cg07921371 | chr13:20194397 | CGI:chr13:20192069-20193770 | promoter | 6.41e-01 | 5.28e-01 | 3.71e+00 | 2.09e-04 | 5.91e-04 | 1.13e-01 |
| HNSC | cg05850327 | chr13:20194097 | CGI:chr13:20192069-20193770 | promoter | 1.12e-01 | 2.48e-01 | -2.45e+00 | 1.41e-02 | 2.25e-02 | -1.36e-01 |
| LIHC | cg19037327 | chr13:20193541 | CGI:chr13:20192069-20193770 | promoter | 1.71e-01 | 4.78e-02 | 1.99e+00 | 4.67e-02 | 4.73e-02 | 1.24e-01 |
| LIHC | cg02861781 | chr13:20193359 | CGI:chr13:20192069-20193770 | promoter | 1.84e-01 | 5.68e-02 | 4.36e+00 | 1.30e-05 | 8.33e-05 | 1.27e-01 |
Top |
Exon skipping events with PSI in TCGA for GJB2 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
| Differentially expressed exon skipping events between male tumor and female tumor patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between male tumor and male normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between female tumor and female normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
Top |
RNA A-to-I editing events in TCGA for GJB2 |
| ∗Please access CAeditome for RNA editing annotation. |
| Differentially expressed RNA editing events between male tumor and female tumor patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between male tumor and male normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between female tumor and female normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Protein coding RNA editing(s). |
| Editing Position | Variant Type | Gene Symbol | Transcript ID | NTchange | AAchange |
Top |
Sex-biased TF-Gene network for GJB2 |
| TFs related to GJB2. ∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
 |
| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| BRCA | KLF3 | GJB2 | 3.20e+00 | 8.79e-03 | 4.45e+00 | 9.80e-01 | Female-biased |
| BRCA | ZNF141 | GJB2 | 3.31e+00 | 7.06e-03 | 4.64e+00 | 9.85e-01 | Female-biased |
| BRCA | ZNF28 | GJB2 | 3.22e+00 | 7.87e-03 | 4.51e+00 | 9.82e-01 | Female-biased |
| BRCA | ZNF891 | GJB2 | 3.09e+00 | 7.06e-03 | 4.41e+00 | 9.81e-01 | Female-biased |
| LAML | NR1H4 | GJB2 | 4.34e+00 | 9.80e-01 | 3.38e+00 | 8.29e-03 | Male-biased |
| LAML | ZNF28 | GJB2 | 4.48e+00 | 9.83e-01 | 3.49e+00 | 7.48e-03 | Male-biased |
| THYM | ZNF418 | GJB2 | 4.02e+00 | 9.81e-01 | 3.07e+00 | 3.09e-03 | Male-biased |
| GJB2 related gene. ∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
Top |
Sex-biased RBP-ES network for GJB2 |
| RBPs related to ES in GJB2. ∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
| Cancer Type | RBP | Target ES | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| GJB2 related ES. ∗Only the gene encode RBP might with this result. ∗For more information please check Sex-biased RBP-ES network in cancer. |
Top |
Sex-biased CeRNA regulation of gene |
| Sex-biased CeRNA regulation of gene. |
| Gene ID | ceRNA(lncRNA-miRNA-mRNA) | Group | Cancer Type |
| ENSG00000165474 | LINC00839,hsa-mir-330,GJB2 | Female-specific ceRNA | TCGA-LIHC |
| ENSG00000165474 | LINC01094,hsa-mir-330,GJB2 | Female-specific ceRNA | TCGA-LIHC |
| ENSG00000165474 | FAM225B,hsa-mir-485,GJB2 | Female-specific ceRNA | TCGA-LIHC |
| ENSG00000165474 | AL138720.1,hsa-mir-485,GJB2 | Female-specific ceRNA | TCGA-LIHC |
Top |
Sex-biased eQTL regulation of gene |
| Sex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| eQTL | Description |
| Male-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs202206256 | chr13:19095425:A:C | - | 0.451389156039661 | 0.0101502637529305 | GBM | Female-baised eQTL |
| rs73155729 | chr13:19122637:G:A | - | 0.295633044198074 | 0.0320520101216769 | GBM | Female-baised eQTL |
| rs35231942 | chr13:29169926:A:T | - | 0.121937918635216 | 0.00175949756282996 | SARC | Female-baised eQTL |
| rs17352099 | chr13:24071870:C:G | - | 0.169028269927592 | 0.00311534422728479 | KIRP | Female-baised eQTL |
| rs9512654 | chr13:27367337:G:A | - | 0.147474226886874 | 0.00928336921320651 | KIRP | Female-baised eQTL |
| rs9512657 | chr13:27369815:T:C | - | 0.147474226886874 | 0.00928336921320651 | KIRP | Female-baised eQTL |
| rs79593868 | chr13:27371013:C:T | - | 0.147474226886874 | 0.00928336921320651 | KIRP | Female-baised eQTL |
| rs17806464 | chr13:27375569:A:C | - | 0.147474226886874 | 0.00928336921320651 | KIRP | Female-baised eQTL |
| rs9512592 | chr13:27271411:C:G | - | 0.142870077408662 | 0.0101044894957322 | KIRP | Female-baised eQTL |
| rs80130407 | chr13:27274370:T:C | - | 0.142870077408662 | 0.0101044894957322 | KIRP | Female-baised eQTL |
| rs74833627 | chr13:27276241:C:T | - | 0.142870077408662 | 0.0101044894957322 | KIRP | Female-baised eQTL |
| rs9512594 | chr13:27278528:G:C | - | 0.142870077408662 | 0.0101044894957322 | KIRP | Female-baised eQTL |
| rs9512596 | chr13:27279412:A:G | - | 0.142870077408662 | 0.0101044894957322 | KIRP | Female-baised eQTL |
| rs9512597 | chr13:27280062:T:C | - | 0.142701485655893 | 0.0101825888792101 | KIRP | Female-baised eQTL |
| rs9512598 | chr13:27281228:T:G | - | 0.142701485655893 | 0.0101825888792101 | KIRP | Female-baised eQTL |
| rs9507868 | chr13:27281463:C:T | - | 0.142701485655893 | 0.0101825888792101 | KIRP | Female-baised eQTL |
| rs9512599 | chr13:27283405:G:A | - | 0.142701485655893 | 0.0101825888792101 | KIRP | Female-baised eQTL |
| rs12874295 | chr13:20365892:C:T | - | 0.142886384040607 | 0.0160877840771917 | KIRP | Female-baised eQTL |
| rs9511407 | chr13:24666681:G:A | - | 0.145654347848965 | 0.0185064866176526 | KIRP | Female-baised eQTL |
| rs74615458 | chr13:27285109:C:T | - | 0.133667514474472 | 0.0202444651565689 | KIRP | Female-baised eQTL |
| rs59055917 | chr13:28473831:A:G | - | 0.140336976753484 | 0.0216755263147781 | KIRP | Female-baised eQTL |
| rs9551716 | chr13:19568452:T:C | - | 0.13961489669124 | 0.0245666369290005 | KIRP | Female-baised eQTL |
| rs4769794 | chr13:29986355:A:C | - | -0.13527898185646 | 0.025218361537773 | KIRP | Female-baised eQTL |
| rs78845408 | chr13:28454223:A:T | - | 0.125738026392232 | 0.0499979909947305 | KIRP | Female-baised eQTL |
| rs9552887 | chr13:23238049:A:C | - | 0.167511224656624 | 0.0469965955218736 | LIHC | Female-baised eQTL |
| rs7323053 | chr13:23238428:G:A | - | 0.167511224656624 | 0.0469965955218736 | LIHC | Female-baised eQTL |
| rs9552883 | chr13:23231759:T:C | - | 0.166625120922581 | 0.0495922827191209 | LIHC | Female-baised eQTL |
| rs9509733 | chr13:21456563:T:C | - | 0.136081224778475 | 7.64372324872806e-05 | STAD | Female-baised eQTL |
| rs35851634 | chr13:21475080:T:C | - | 0.132768545558906 | 0.000162295577708851 | STAD | Female-baised eQTL |
| rs9509732 | chr13:21454731:A:G | - | 0.127557087544252 | 0.000265592576661671 | STAD | Female-baised eQTL |
| rs74890016 | chr13:21454613:T:C | - | 0.12720629469121 | 0.000278448169216063 | STAD | Female-baised eQTL |
| rs371616415 | chr13:20651429:T:A | - | 0.101350743922253 | 0.00252074720876877 | STAD | Female-baised eQTL |
| rs374571729 | chr13:20651430:G:A | - | 0.101350743922253 | 0.00252074720876877 | STAD | Female-baised eQTL |
| rs377377889 | chr13:20651431:T:C | - | 0.101350743922253 | 0.00252074720876877 | STAD | Female-baised eQTL |
| rs370858898 | chr13:20651432:T:A | - | 0.101350743922253 | 0.00252074720876877 | STAD | Female-baised eQTL |
| rs2314236 | chr13:20658253:T:C | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs8002232 | chr13:20661549:A:G | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs8002138 | chr13:20661845:C:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs17055251 | chr13:20663274:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs7323832 | chr13:20667868:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs74036419 | chr13:20668201:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs59623988 | chr13:20679854:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs57770960 | chr13:20680053:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs2094698 | chr13:20681550:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs7333812 | chr13:20685198:A:G | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs7333838 | chr13:20685229:A:T | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs7333306 | chr13:20685325:C:T | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs7139641 | chr13:20685573:T:C | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs7332493 | chr13:20685583:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs73433397 | chr13:20685710:A:G | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs10507293 | chr13:20687128:T:C | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs17056099 | chr13:20689842:G:A | - | 0.0993880663038687 | 0.00302381192162101 | STAD | Female-baised eQTL |
| rs2480432 | chr13:20594354:G:C | - | 0.0993160427677881 | 0.00307244847572286 | STAD | Female-baised eQTL |
| rs2497480 | chr13:20621987:T:A | - | 0.0993806800539618 | 0.00310361881725923 | STAD | Female-baised eQTL |
| rs2480425 | chr13:20635572:G:T | - | 0.0993806800539618 | 0.00310361881725923 | STAD | Female-baised eQTL |
| rs67852946 | chr13:20656030:C:T | - | 0.0993806800539618 | 0.00310361881725923 | STAD | Female-baised eQTL |
| rs2497496 | chr13:20644456:G:A | - | 0.0992995673195796 | 0.00323319788348316 | STAD | Female-baised eQTL |
| rs2497497 | chr13:20646743:C:T | - | 0.0992995673195796 | 0.00323319788348316 | STAD | Female-baised eQTL |
| rs7318542 | chr13:20673995:C:G | - | 0.0960721831937253 | 0.00343057719502931 | STAD | Female-baised eQTL |
| rs928354 | chr13:29581370:T:C | - | 0.126235518126525 | 0.00398697955318696 | STAD | Female-baised eQTL |
| rs9509289 | chr13:20582860:G:A | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs4268596 | chr13:20583632:G:A | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs4558260 | chr13:20583776:G:C | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs7998003 | chr13:20584971:C:T | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs7995035 | chr13:20586564:A:G | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs6490597 | chr13:20587340:G:C | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2987989 | chr13:20587877:G:A | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2149771 | chr13:20588370:G:C | - | -0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs7322752 | chr13:20592748:G:A | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2497474 | chr13:20595556:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2480431 | chr13:20598273:G:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2497475 | chr13:20599687:G:A | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs3002168 | chr13:20603230:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2987987 | chr13:20608677:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs3002171 | chr13:20609642:G:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2497486 | chr13:20626121:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2497487 | chr13:20626132:C:G | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2442446 | chr13:20627131:A:G | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2442447 | chr13:20629968:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2442450 | chr13:20633133:T:C | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2497490 | chr13:20633875:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs2480424 | chr13:20635892:A:C | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs7319149 | chr13:20674342:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs7325875 | chr13:20675132:A:C | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs7319891 | chr13:20675934:C:T | - | 0.097340453316731 | 0.00404021791838201 | STAD | Female-baised eQTL |
| rs17055401 | chr13:20669312:C:T | - | 0.0973160931106733 | 0.00416393086518804 | STAD | Female-baised eQTL |
| rs2480423 | chr13:20637759:C:A | - | 0.0972603663886373 | 0.00421148309904343 | STAD | Female-baised eQTL |
| rs2497492 | chr13:20638896:C:T | - | 0.0972603663886373 | 0.00421148309904343 | STAD | Female-baised eQTL |
| rs2497493 | chr13:20639614:A:T | - | 0.0972603663886373 | 0.00421148309904343 | STAD | Female-baised eQTL |
| rs2442451 | chr13:20637727:T:A | - | 0.0951283252418031 | 0.00561850854604173 | STAD | Female-baised eQTL |
| rs7326219 | chr13:21601554:A:G | - | 0.119935106010412 | 0.0143183692542069 | STAD | Female-baised eQTL |
| rs139874280 | chr13:21597713:C:T | - | 0.114371177982685 | 0.0229269544781595 | STAD | Female-baised eQTL |
| rs7328926 | chr13:21598486:C:T | - | 0.114393925167955 | 0.0230327708757099 | STAD | Female-baised eQTL |
| rs9509798 | chr13:21569564:T:G | - | 0.112378311631619 | 0.0286535889275728 | STAD | Female-baised eQTL |
| rs2003941 | chr13:21596510:G:A | - | 0.10932346137697 | 0.0348204172703658 | STAD | Female-baised eQTL |
| rs9509785 | chr13:21538400:G:A | - | 0.106783013188105 | 0.0385630748323283 | STAD | Female-baised eQTL |
| rs9509805 | chr13:21586722:A:G | - | 0.106333230393598 | 0.0404436249451242 | STAD | Female-baised eQTL |
| rs78229199 | chr13:21589764:T:C | - | 0.106333230393598 | 0.0404436249451242 | STAD | Female-baised eQTL |
| rs2031274 | chr13:21599587:A:G | - | -0.103575892143685 | 0.0483757803186666 | STAD | Female-baised eQTL |
| rs9551770 | chr13:29899831:G:A | - | 0.141713237571335 | 0.0120323813378473 | LGG | Female-baised eQTL |
| rs9551769 | chr13:29899544:A:C | - | 0.141606025180361 | 0.0120715865829561 | LGG | Female-baised eQTL |
| rs9550509 | chr13:29901195:G:A | - | 0.126837304812921 | 0.0349143713417803 | LGG | Female-baised eQTL |
| rs9551771 | chr13:29901404:C:T | - | 0.126837304812921 | 0.0349143713417803 | LGG | Female-baised eQTL |
| rs12428272 | chr13:29902207:A:G | - | 0.11728401264102 | 0.0390944873143093 | LGG | Female-baised eQTL |
| rs9551772 | chr13:29902499:C:T | - | 0.11728401264102 | 0.0390944873143093 | LGG | Female-baised eQTL |
| rs1325369 | chr13:29902577:G:A | - | 0.11728401264102 | 0.0390944873143093 | LGG | Female-baised eQTL |
| rs4063936 | chr13:20698908:A:T | - | 0.031078422165255 | 0.0274991783842485 | LUAD | Female-baised eQTL |
| rs9509300 | chr13:20611162:C:A | - | 0.031444743538661 | 0.0289339866579898 | LUAD | Female-baised eQTL |
| rs9506529 | chr13:20628711:G:A | - | 0.0306429090285124 | 0.0327622535457719 | LUAD | Female-baised eQTL |
| rs9509313 | chr13:20645214:C:T | - | 0.0307792431496683 | 0.0335065320670295 | LUAD | Female-baised eQTL |
| rs9509303 | chr13:20620809:G:A | - | 0.0310238242070264 | 0.034160367038523 | LUAD | Female-baised eQTL |
| rs9509311 | chr13:20635498:A:G | - | 0.0305841354427862 | 0.0344632987049847 | LUAD | Female-baised eQTL |
| rs9506530 | chr13:20653518:G:A | - | 0.0307795845660582 | 0.0345631686174299 | LUAD | Female-baised eQTL |
| rs12873775 | chr13:20627068:G:A | - | 0.0304670129930382 | 0.0347526854720527 | LUAD | Female-baised eQTL |
| rs9506532 | chr13:20660614:G:A | - | 0.0306854760584452 | 0.0356558351420071 | LUAD | Female-baised eQTL |
| rs12865114 | chr13:20602230:A:G | - | 0.0302578910820678 | 0.035977687861558 | LUAD | Female-baised eQTL |
| rs9509292 | chr13:20595209:A:G | - | 0.0305869459435678 | 0.035996367552478 | LUAD | Female-baised eQTL |
| rs9509302 | chr13:20618189:G:A | - | 0.03024552055198 | 0.0372352877990546 | LUAD | Female-baised eQTL |
| rs9581743 | chr13:26797578:G:A | - | 0.0609962281307397 | 0.0376850009363029 | LUAD | Female-baised eQTL |
| rs9509298 | chr13:20609315:A:G | - | 0.0297804558332482 | 0.0395123258936599 | LUAD | Female-baised eQTL |
| rs9315735 | chr13:20588801:C:G | - | 0.030407832123569 | 0.0402564396028357 | LUAD | Female-baised eQTL |
| rs9506534 | chr13:20673026:C:T | - | 0.0296849703751905 | 0.0421144562976797 | LUAD | Female-baised eQTL |
| rs9509320 | chr13:20658245:C:T | - | 0.0301489844393998 | 0.0423972053863316 | LUAD | Female-baised eQTL |
| rs7991142 | chr13:20619822:C:T | - | 0.0306130223334124 | 0.0439918720647352 | LUAD | Female-baised eQTL |
| rs9509294 | chr13:20600506:T:A | - | 0.0303222127969525 | 0.0451051750330744 | LUAD | Female-baised eQTL |
| rs9509301 | chr13:20617739:G:A | - | 0.0293568089892047 | 0.045556161916148 | LUAD | Female-baised eQTL |
| rs9506533 | chr13:20671329:C:T | - | 0.0296230972289012 | 0.0470397483421743 | LUAD | Female-baised eQTL |
| rs9506528 | chr13:20614200:G:A | - | 0.029809314533387 | 0.0495566108502121 | LUAD | Female-baised eQTL |
| Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs9509988 | chr13:22068887:C:T | - | -0.0792980719938746 | 0.0313514520326865 | KIRP | Male-baised eQTL |
| rs9582013 | chr13:28192607:C:G | - | 0.0796304624528546 | 0.000648622081712581 | LIHC | Male-baised eQTL |
| rs9582014 | chr13:28192930:T:C | - | 0.0733811689373982 | 0.000837979560063824 | LIHC | Male-baised eQTL |
| rs8000925 | chr13:28197484:A:G | - | 0.0724557940057582 | 0.00210573501845695 | LIHC | Male-baised eQTL |
| rs8000679 | chr13:28191181:T:C | - | 0.0685936546695112 | 0.00259196347181136 | LIHC | Male-baised eQTL |
| rs6491267 | chr13:28207113:T:C | - | 0.0694412311496263 | 0.00341140048914578 | LIHC | Male-baised eQTL |
| rs73163526 | chr13:27371488:T:G | - | 0.108038432802448 | 0.00547933894663533 | STAD | Male-baised eQTL |
| rs11842111 | chr13:29931663:G:A | - | 0.0375917245742311 | 0.00227010784766769 | KIRC | Male-baised eQTL |
| rs17074065 | chr13:29936977:T:A | - | 0.0494641907040269 | 0.00479895617959986 | KIRC | Male-baised eQTL |
| rs661331 | chr13:29933975:A:T | - | 0.0346879976213168 | 0.00606493388389328 | KIRC | Male-baised eQTL |
| rs11842394 | chr13:29937710:G:A | - | 0.0464921128545195 | 0.00855102229837372 | KIRC | Male-baised eQTL |
| rs73450347 | chr13:29937555:A:G | - | 0.0457937352083771 | 0.00917712102849444 | KIRC | Male-baised eQTL |
| rs73450349 | chr13:29937563:G:A | - | 0.0457937352083771 | 0.00917712102849444 | KIRC | Male-baised eQTL |
| rs73450344 | chr13:29937159:C:A | - | 0.0444821276619674 | 0.0121557863389812 | KIRC | Male-baised eQTL |
| rs11838968 | chr13:29952894:G:A | - | 0.0319413909052266 | 0.0137795915866104 | KIRC | Male-baised eQTL |
| rs17074067 | chr13:29937230:T:C | - | 0.0388158263430959 | 0.0320414644244146 | KIRC | Male-baised eQTL |
| rs17074100 | chr13:29942677:T:A | - | 0.0264824450938104 | 0.037789861899205 | KIRC | Male-baised eQTL |
| rs7988422 | chr13:29950742:C:G | - | 0.0261307459835114 | 0.0464357701115481 | KIRC | Male-baised eQTL |
| rs1325368 | chr13:29923477:A:T | - | 0.0257698993740705 | 0.0485149370657031 | KIRC | Male-baised eQTL |
| rs11148681 | chr13:23140333:C:T | - | 0.0839309183251021 | 0.0350654413309726 | LUAD | Male-baised eQTL |
| rs10507326 | chr13:23144605:A:C | - | 0.0822251092034554 | 0.0361530404796793 | LUAD | Male-baised eQTL |
| rs17289548 | chr13:23144355:A:T | - | 0.082141926985095 | 0.0366478450437109 | LUAD | Male-baised eQTL |
| rs78911666 | chr13:23142927:G:A | - | 0.0821068795928935 | 0.036906082088344 | LUAD | Male-baised eQTL |
| rs77474678 | chr13:23143032:A:G | - | 0.0821068795928935 | 0.036906082088344 | LUAD | Male-baised eQTL |
| rs56043027 | chr13:23143390:T:G | - | 0.0821068795928935 | 0.036906082088344 | LUAD | Male-baised eQTL |
| rs17289422 | chr13:23143500:C:T | - | 0.0821068795928935 | 0.036906082088344 | LUAD | Male-baised eQTL |
| rs56203415 | chr13:23143650:C:G | - | 0.0821068795928935 | 0.036906082088344 | LUAD | Male-baised eQTL |
| rs74559950 | chr13:23140121:G:A | - | 0.0820097210042419 | 0.037665513433834 | LUAD | Male-baised eQTL |
| rs12430926 | chr13:23149987:C:T | - | 0.0793460535173199 | 0.0440854851339402 | LUAD | Male-baised eQTL |
| rs75611814 | chr13:23150340:T:C | - | 0.0793460535173199 | 0.0440854851339402 | LUAD | Male-baised eQTL |
| Opposite sex-biased eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Sex-biased Gene in Cancer | Cancer Type |
Top |
Sex-biased eQTM regulation of gene |
| Sex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table). |
| eQTM | Description |
 | Gene ID: ENSG00000165474 |
| CpG Site: cg17967059 | |
| Position to Gene: gene,exon,CDS | |
| Male Effect: - | |
| Female Effect: -0.489291699416944 | |
 | Gene ID: ENSG00000165474 |
| CpG Site: cg24425972 | |
| Position to Gene: gene | |
| Male Effect: -0.222965321756319 | |
| Female Effect: - | |
 | Gene ID: ENSG00000165474 |
| CpG Site: cg17967059 | |
| Position to Gene: gene,exon,CDS | |
| Male Effect: -0.0732575367325909 | |
| Female Effect: - | |
 | Gene ID: ENSG00000165474 |
| CpG Site: cg17967059 | |
| Position to Gene: gene,exon,CDS | |
| Male Effect: -0.494140412675684 | |
| Female Effect: - | |
 | Gene ID: ENSG00000165474 |
| CpG Site: cg07569385 | |
| Position to Gene: gene,promoter | |
| Male Effect: -0.494140412675684 | |
| Female Effect: - | |
 | Gene ID: ENSG00000165474 |
| CpG Site: cg07921371 | |
| Position to Gene: promoter | |
| Male Effect: -0.162899545439223 | |
| Female Effect: - |
| Male-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg24425972 | chr13:20190720 | gene | -0.222965321756319 | 3.3897709417274e-08 | -0.41989531564121063 | 6.154901256811263e-11 | LUAD |
| cg17967059 | chr13:20189318 | gene,exon,CDS | -0.0732575367325909 | 1.29622024308553e-05 | -0.3583138026273459 | 3.700939683468388e-08 | LUAD |
| cg17967059 | chr13:20189318 | gene,exon,CDS | -0.494140412675684 | 5.71527158408059e-114 | -0.9202923577308026 | 5.456117997563562e-119 | LGG |
| cg07569385 | chr13:20192087 | gene,promoter | -0.494140412675684 | 5.71527158408059e-114 | -0.9202923577308026 | 5.456117997563562e-119 | LGG |
| cg07921371 | chr13:20194397 | promoter | -0.162899545439223 | 6.94076632854436e-19 | -0.5199972299946175 | 2.021032668557902e-21 | LGG |
| Female-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg17967059 | chr13:20189318 | gene,exon,CDS | -0.489291699416944 | 7.33763590310436e-45 | -0.9783036062778369 | 2.780989035206693e-50 | KIRP |
| Opposite sex-biased eQTM regulation. |
| CpG Site | CpG Postion | CpG Island | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Male Cor | Male P-value | Female Cor | Female P-value | Sex-biased Coding Gene | Cancer Type |
Top |
Sex-biased sQTL regulation of gene |
| Sex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTL | Description |
| Male-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| Female-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| Opposite sex-biased sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Male Effect | Male FDR | Female Effect | Female FDR | Cancer Type |
Top |
Sex-biased sQTM regulation of gene |
| Sex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTM | Description |
| Male-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Female-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Opposite sex-biased sQTM regulation. |
| EX ID | EX Info | Skipped Exon | CPG Site | CPG Position | CPG Island | Position to EX Events | Male Effect | Male FDR | Female Effect | Female FDR | Male Correlation | Male P-value | Female Correlation | Female P-value | ORF_anno | Cancer Type |
Top |
Related disease information of GJB2 |
| Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000165474 | GJB2 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0007642 | Cellulitis | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0011052 | Prelingual Deafness | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0011053 | Deafness | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0020757 | Ichthyoses | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0022568 | Keratitis | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0025221 | Meleda Disease | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0030246 | Pustulosis of Palms and Soles | 2 | CTD_human |
| ENSG00000165474 | GJB2 | C0031557 | Phlegmon | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0033860 | Psoriasis | 2 | CTD_human |
| ENSG00000165474 | GJB2 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0043345 | Xeroderma | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0086395 | Hearing Loss, Extreme | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0162836 | Hidradenitis Suppurativa | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0265336 | Senter syndrome | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0265964 | Mutilating keratoderma | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0266004 | Knuckle pads, leuconychia and sensorineural deafness | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0581883 | Complete Hearing Loss | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C0751068 | Deafness, Acquired | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C1691779 | Sensory hearing loss | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C1835672 | Palmoplantar Keratoderma with Deafness | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C1844678 | Progressive hearing loss stapes fixation | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C1865234 | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C2673759 | DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C2673760 | DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C2673761 | DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C2675750 | DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C3665473 | Bilateral Deafness | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C4082305 | Deaf Mutism | 1 | CTD_human |
| ENSG00000165474 | GJB2 | C4551675 | Keratoderma, Palmoplantar | 1 | CTD_human |
