| Cancer | Chr | Position | Mutation Type | dbSNP | Protein-change | Allele Freq | RBD |
|---|---|---|---|---|---|---|---|
| BLCA | |||||||
| BLCA | |||||||
| BLCA | |||||||
| BRCA | |||||||
| BRCA | |||||||
| BRCA | |||||||
| BRCA | |||||||
| CESC | |||||||
| CESC | |||||||
| CESC | |||||||
| CESC | |||||||
| CESC | |||||||
| COAD | |||||||
| COAD | |||||||
| COAD | |||||||
| COAD | |||||||
| COAD | |||||||
| GBM | |||||||
| GBM | |||||||
| HNSC | |||||||
| HNSC | |||||||
| KIRC | |||||||
| KIRP | |||||||
| KIRP | |||||||
| LAML | |||||||
| LGG | |||||||
| LIHC | |||||||
| LUAD | |||||||
| LUAD | |||||||
| LUAD | |||||||
| LUAD | |||||||
| LUAD | |||||||
| LUAD | |||||||
| LUSC | |||||||
| OV | |||||||
| PAAD | |||||||
| PRAD | |||||||
| SARC | |||||||
| SARC | |||||||
| SKCM | |||||||
| SKCM | |||||||
| SKCM | |||||||
| SKCM | |||||||
| SKCM | |||||||
| SKCM | |||||||
| SKCM | |||||||
| SKCM | |||||||
| STAD | |||||||
| STAD | |||||||
| STAD | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC | |||||||
| UCEC |
| Cancer | Type | Freq | Q-value |
|---|---|---|---|
| BRCA | |||
| ESCA | |||
| TGCT |
| Cancer | P-value | Q-value |
|---|---|---|
| KIRC | ||
| STAD | ||
| SKCM | ||
| BRCA | ||
| ESCA | ||
| KIRP | ||
| PAAD | ||
| UCEC | ||
| LGG | ||
| LUAD | ||
| UVM |
| Protein ID | Domain | Pfam ID | E-value | Domain number | Total number |
|---|---|---|---|---|---|
| ENSP00000434220 | zf-C2H2 | PF00096.26 | 1.2e-13 | 1 | 3 |
| ENSP00000434220 | zf-C2H2 | PF00096.26 | 1.2e-13 | 2 | 3 |
| ENSP00000434220 | zf-C2H2 | PF00096.26 | 1.2e-13 | 3 | 3 |
| ENSP00000337862 | zf-C2H2 | PF00096.26 | 3.7e-13 | 1 | 3 |
| ENSP00000337862 | zf-C2H2 | PF00096.26 | 3.7e-13 | 2 | 3 |
| ENSP00000337862 | zf-C2H2 | PF00096.26 | 3.7e-13 | 3 | 3 |
| ENSP00000434220 | zf-met | PF12874.7 | 0.0005 | 1 | 2 |
| ENSP00000434220 | zf-met | PF12874.7 | 0.0005 | 2 | 2 |
| ENSP00000337862 | zf-met | PF12874.7 | 0.0015 | 1 | 2 |
| ENSP00000337862 | zf-met | PF12874.7 | 0.0015 | 2 | 2 |
| Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
|---|---|---|---|---|---|---|---|
| ENST00000532448 | OVOL1-203 | 1774 | XM_005274018 | ENSP00000434220 | 205 (aa) | XP_005274075 | G3V1B0 |
| ENST00000531907 | OVOL1-202 | 558 | - | - | - (aa) | - | - |
| ENST00000335987 | OVOL1-201 | 3034 | - | ENSP00000337862 | 267 (aa) | - | O14753 |
| ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
|---|---|---|---|---|---|---|---|---|---|
| ENSG00000172818 | rs10896045 | 11 | 65788053 | G | Blood protein levels | 29875488 | [0.12-0.24] unit decrease | 0.18 | EFO_0007937 |
| ENSG00000172818 | rs642803 | 11 | 65793149 | T | Urate levels | 23263486 | [0.026-0.045] mg/dl decrease | 0.036 | EFO_0004531 |
| ENSG00000172818 | rs642803 | 11 | 65793149 | T | Educational attainment (MTAG) | 30038396 | [0.0049-0.0099] unit increase | 0.0074 | EFO_0004784 |
| ENSG00000172818 | rs642803 | 11 | 65793149 | T | Highest math class taken (MTAG) | 30038396 | [0.0058-0.0124] unit increase | 0.0091 | EFO_0004875 |
| ENSG00000172818 | rs56019505 | 11 | 65794334 | G | Blond vs. brown/black hair color | 30531825 | NR | 1.087 | EFO_0003924 |
| ENSG00000172818 | rs12797706 | 11 | 65793898 | ? | Hair color | 30595370 | EFO_0007822 | ||
| ENSG00000172818 | rs10791824 | 11 | 65791795 | ? | Eczema | 30595370 | HP_0000964 | ||
| ENSG00000172818 | rs11227302 | 11 | 65787031 | A | Systemic lupus erythematosus | 28714469 | [1.08-1.21] | 1.15 | EFO_0002690 |
| ENSG00000172818 | rs644740 | 11 | 65793997 | T | Age of smoking initiation (MTAG) | 30643251 | [0.0059-0.0117] unit increase | 0.00881013 | EFO_0005670 |
| ENSG00000172818 | rs644740 | 11 | 65793997 | T | Smoking initiation (ever regular vs never regular) (MTAG) | 30643251 | [0.0051-0.0093] unit decrease | 0.00719881 | EFO_0006527 |
| ENSG00000172818 | rs644740 | 11 | 65793997 | T | Smoking initiation (ever regular vs never regular) | 30643251 | [0.0091-0.0191] unit decrease | 0.014078517 | EFO_0006527 |
| Ensembl ID | Gene Symbol | Coverage | Identiy | Ortholog | Gene Symbol | Coverage | Identiy | Species |
|---|---|---|---|---|---|---|---|---|
| ENSG00000172818 | OVOL1 | 100 | 94.634 | ENSCLAG00000016426 | OVOL1 | 79 | 94.068 | Chinchilla_lanigera |
| ENSG00000172818 | OVOL1 | 100 | 71.220 | ENSCPBG00000023411 | OVOL1 | 100 | 71.161 | Chrysemys_picta_bellii |
| ENSG00000172818 | OVOL1 | 100 | 90.732 | ENSDNOG00000024062 | OVOL1 | 98 | 89.496 | Dasypus_novemcinctus |
| ENSG00000172818 | OVOL1 | 100 | 95.131 | ENSDORG00000028510 | Ovol1 | 100 | 95.131 | Dipodomys_ordii |
| ENSG00000172818 | OVOL1 | 77 | 97.452 | ENSEEUG00000010161 | OVOL1 | 99 | 96.835 | Erinaceus_europaeus |
| ENSG00000172818 | OVOL1 | 80 | 68.902 | ENSGALG00000049996 | OVOL1 | 73 | 67.429 | Gallus_gallus |
| ENSG00000172818 | OVOL1 | 100 | 72.195 | ENSGAGG00000008199 | OVOL1 | 100 | 71.536 | Gopherus_agassizii |
| ENSG00000172818 | OVOL1 | 100 | 94.757 | ENSJJAG00000024400 | Ovol1 | 100 | 94.757 | Jaculus_jaculus |
| ENSG00000172818 | OVOL1 | 100 | 95.506 | MGP_CAROLIEiJ_G0022558 | Ovol1 | 100 | 95.506 | Mus_caroli |
| ENSG00000172818 | OVOL1 | 100 | 95.506 | ENSMUSG00000024922 | Ovol1 | 100 | 95.506 | Mus_musculus |
| ENSG00000172818 | OVOL1 | 100 | 94.757 | MGP_PahariEiJ_G0014055 | Ovol1 | 100 | 94.757 | Mus_pahari |
| ENSG00000172818 | OVOL1 | 100 | 95.880 | MGP_SPRETEiJ_G0023472 | Ovol1 | 100 | 95.880 | Mus_spretus |
| ENSG00000172818 | OVOL1 | 100 | 96.255 | ENSOGAG00000016496 | OVOL1 | 100 | 96.255 | Otolemur_garnettii |
| ENSG00000172818 | OVOL1 | 95 | 70.769 | ENSPSIG00000002913 | OVOL1 | 100 | 64.748 | Pelodiscus_sinensis |
| ENSG00000172818 | OVOL1 | 100 | 94.382 | ENSRNOG00000020669 | Ovol1 | 100 | 94.382 | Rattus_norvegicus |
| Go ID | Go_term | PubmedID | Evidence | Category |
|---|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | - | IEA | Process |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | - | IEA | Function |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | - | ISA | Function |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | 21873635. | IBA | Function |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | 21873635. | IBA | Function |
| GO:0001822 | kidney development | - | IEA | Process |
| GO:0005634 | nucleus | 21873635. | IBA | Component |
| GO:0007283 | spermatogenesis | - | IEA | Process |
| GO:0007498 | mesoderm development | - | IEA | Process |
| GO:0009913 | epidermal cell differentiation | 21873635. | IBA | Process |
| GO:0043565 | sequence-specific DNA binding | 21873635. | IBA | Function |
| GO:0043588 | skin development | - | IEA | Process |
| GO:0045892 | negative regulation of transcription, DNA-templated | 21873635. | IBA | Process |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | - | IEA | Process |
| GO:0046872 | metal ion binding | - | IEA | Function |
| GO:0051729 | germline cell cycle switching, mitotic to meiotic cell cycle | - | IEA | Process |
| GO:1901994 | negative regulation of meiotic cell cycle phase transition | - | IEA | Process |
| GO:2000647 | negative regulation of stem cell proliferation | - | IEA | Process |