TF name: | VDR |
TF family: | THR-like |
Ensembl gene ID: | ENSG00000111424 |
Ensembl protein ID: | ENSP00000229022, ENSP00000449074, ENSP00000449573, ENSP00000447173, ENSP00000448659, ENSP00000450105, ENSP00000378734, ENSP00000449561 |
Entrez gene ID: | 7421 |
Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_236 | Cell line | Colon | V206 | 0.19875776397516 |
Sample_02_237 | Cell line | Colon | V389 | 0.4701638137309 |
Sample_02_241 | Cell line | Colon | V456 | 1 |
Sample_02_358 | Cell line | Colon | LS180 | 0.40916271721959 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_241 | Colon | Cell line | V456 |
Sample_02_358 | Colon | Cell line | LS180 |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr12 | 48240500 | 48240500 | C | G | exonic | VDR | nonsynonymous | SKCM|1|368|0.00272 |
rs776080166 | chr12 | 48251326 | 48251326 | C | T | exonic | VDR | synonymous | SKCM|1|368|0.00272 |
- | chr12 | 48251385 | 48251385 | G | A | exonic | VDR | nonsynonymous | PRAD|1|499|0.00200 |
- | chr12 | 48258873 | 48258873 | G | A | exonic | VDR | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr12 | 48238538 | 48238538 | C | T | exonic | VDR | synonymous | HNSC|1|512|0.00195 |
- | chr12 | 48251312 | 48251312 | G | A | exonic | VDR | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr12 | 48272869 | 48272869 | G | A | exonic | VDR | synonymous | STAD|2|395|0.00506,STES|2|395|0.00506 |
- | chr12 | 48250947 | 48250947 | G | A | exonic | VDR | nonsynonymous | SKCM|1|368|0.00272 |
- | chr12 | 48258951 | 48258951 | C | T | exonic | VDR | nonsynonymous | LUAD|1|543|0.00184 |
- | chr12 | 48240119 | 48240119 | T | A | exonic | VDR | synonymous | LUAD|1|543|0.00184 |
- | chr12 | 48240466 | 48240466 | T | A | exonic | VDR | nonsynonymous | LUAD|1|543|0.00184 |
- | chr12 | 48251014 | 48251014 | C | T | exonic | VDR | nonsynonymous | LUSC|1|178|0.00562 |
- | chr12 | 48238712 | 48238712 | G | A | exonic | VDR | synonymous | PAAD|1|185|0.00541 |
- | chr12 | 48251023 | 48251023 | G | A | exonic | VDR | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189,SKCM|1|368|0.00272,UCEC|2|248|0.00806 |
- | chr12 | 48272780 | 48272780 | C | G | exonic | VDR | nonsynonymous | LUAD|1|543|0.00184 |
- | chr12 | 48238574 | 48238574 | C | T | exonic | VDR | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr12 | 48238710 | 48238710 | C | T | exonic | VDR | nonsynonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr12 | 48251368 | 48251368 | C | T | exonic | VDR | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr12 | 48251431 | 48251431 | C | T | exonic | VDR | nonsynonymous | CESC|1|194|0.00515 |
rs121909790 | chr12 | 48272799 | 48272799 | C | T | exonic | VDR | nonsynonymous | UCEC|1|248|0.00403 |
rs190607107 | chr12 | 48240460 | 48240460 | C | T | exonic | VDR | nonsynonymous | BLCA|1|396|0.00253 |
rs371655308 | chr12 | 48251360 | 48251360 | C | T | exonic | VDR | nonsynonymous | UCEC|1|248|0.00403 |
- | chr12 | 48272773 | 48272773 | C | T | exonic | VDR | nonsynonymous | SKCM|1|368|0.00272 |
rs144628070 | chr12 | 48251338 | 48251338 | G | A | exonic | VDR | synonymous | LUAD|1|543|0.00184 |
rs368961482 | chr12 | 48238691 | 48238691 | C | T | exonic | VDR | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr12 | 48238661 | 48238661 | G | A | exonic | VDR | synonymous | LUAD|1|543|0.00184 |
- | chr12 | 48249477 | 48249477 | C | T | exonic | VDR | nonsynonymous | ACC|1|90|0.01111 |
rs752590757 | chr12 | 48251388 | 48251388 | G | A | exonic | VDR | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr12 | 48240547 | 48240547 | G | A | exonic | VDR | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr12 | 48240513 | 48240513 | G | A | exonic | VDR | synonymous | SKCM|2|368|0.00543 |
rs141329158 | chr12 | 48240127 | 48240127 | C | T | exonic | VDR | nonsynonymous | UCEC|1|248|0.00403 |
- | chr12 | 48272841 | 48272841 | T | C | exonic | VDR | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr12 | 48272749 | 48272749 | A | G | splicing | VDR | splicing | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr12 | 48258886 | 48258886 | C | T | exonic | VDR | nonsynonymous | UCEC|2|248|0.00806 |
- | chr12 | 48240510 | 48240510 | G | A | exonic | VDR | synonymous | SKCM|2|368|0.00543 |
rs4987032 | chr12 | 48238763 | 48238763 | C | T | exonic | VDR | synonymous | LUSC|1|178|0.00562 |
- | chr12 | 48272843 | 48272843 | C | G | exonic | VDR | synonymous | BLCA|1|396|0.00253 |
rs757881350 | chr12 | 48240527 | 48240527 | G | A | exonic | VDR | nonsynonymous | THCA|1|504|0.00198 |
- | chr12 | 48238559 | 48238559 | C | A | exonic | VDR | synonymous | LUAD|4|543|0.00737 |
- | chr12 | 48258928 | 48258928 | C | T | exonic | VDR | nonsynonymous | PRAD|1|499|0.00200 |
rs565845200 | chr12 | 48249571 | 48249571 | C | T | exonic | VDR | synonymous | LUSC|1|178|0.00562 |
- | chr12 | 48258890 | 48258890 | G | A | exonic | VDR | stopgain | SKCM|1|368|0.00272 |
- | chr12 | 48249476 | 48249476 | G | A | exonic | VDR | nonsynonymous | SKCM|1|368|0.00272 |
rs746128447 | chr12 | 48240450 | 48240450 | G | A | exonic | VDR | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr12 | 48272866 | 48272866 | G | A | exonic | VDR | nonsynonymous | SKCM|1|368|0.00272 |
- | chr12 | 48238609 | 48238609 | G | C | exonic | VDR | nonsynonymous | ESCA|1|185|0.00541 |
rs140864473 | chr12 | 48251320 | 48251320 | G | A | exonic | VDR | synonymous | PRAD|1|499|0.00200 |
- | chr12 | 48251018 | 48251018 | C | G | exonic | VDR | synonymous | LUSC|1|178|0.00562 |
- | chr12 | 48240573 | 48240573 | G | T | exonic | VDR | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204,ESCA|1|185|0.00541 |
- | chr12 | 48238555 | 48238555 | C | T | exonic | VDR | nonsynonymous | UCEC|1|248|0.00403 |
- | chr12 | 48240170 | 48240170 | G | T | exonic | VDR | nonsynonymous | TGCT|1|155|0.00645 |
rs377423996 | chr12 | 48238785 | 48238785 | C | T | exonic | VDR | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr12 | 48238538 | 48238538 | C | A | exonic | VDR | nonsynonymous | HNSC|1|512|0.00195 |
- | chr12 | 48272814 | 48272814 | C | G | exonic | VDR | nonsynonymous | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
rs147496897 | chr12 | 48272845 | 48272845 | G | A | exonic | VDR | nonsynonymous | KICH|1|66|0.01515,KIPAN|1|799|0.00125 |
- | chr12 | 48272874 | 48272874 | G | A | exonic | VDR | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189,LUSC|1|178|0.00562 |
- | chr12 | 48249545 | 48249545 | C | A | exonic | VDR | nonsynonymous | LUSC|1|178|0.00562 |
rs749838232 | chr12 | 48238764 | 48238764 | G | A | exonic | VDR | nonsynonymous | OV|1|469|0.00213 |
rs543098804 | chr12 | 48251311 | 48251311 | G | C | exonic | VDR | synonymous | OV|1|469|0.00213 |
- | chr12 | 48238570 | 48238570 | T | C | exonic | VDR | nonsynonymous | HNSC|1|512|0.00195 |
- | chr12 | 48240182 | 48240182 | C | T | exonic | VDR | synonymous | BRCA|1|982|0.00102 |
- | chr12 | 48250914 | 48250914 | G | C | exonic | VDR | stopgain | BLCA|1|396|0.00253 |
- | chr12 | 48238617 | 48238617 | T | A | exonic | VDR | nonsynonymous | LUSC|1|178|0.00562 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
VDR | Osteoporosis, Age-Related | C05;C18 | Disease or Syndrome | CTD_human |
VDR | Alopecia | C17;C23 | Disease or Syndrome | CTD_human |
VDR | Bipolar Disorder | F03 | Mental or Behavioral Dysfunction | PSYGENET |
VDR | Malignant neoplasm of breast | C04;C17 | Neoplastic Process | CTD_human |
VDR | Malignant Neoplasms | C04 | Neoplastic Process | CTD_human |
VDR | Carcinoma, Transitional Cell | C04 | Neoplastic Process | CTD_human |
VDR | Cerebral Infarction | C10;C14 | Disease or Syndrome | CTD_human |
VDR | Epilepsy, Temporal Lobe | C10 | Disease or Syndrome | CTD_human |
VDR | Uncinate Epilepsy | C10 | Disease or Syndrome | CTD_human |
VDR | Hereditary Diseases | C16 | Disease or Syndrome | CTD_human |
VDR | Hypertensive disease | C14 | Disease or Syndrome | CTD_human |
VDR | Lead Poisoning | C25 | Injury or Poisoning | CTD_human |
VDR | Chronic Lymphocytic Leukemia | C04;C15;C20 | Neoplastic Process | CTD_human |
VDR | Multiple Sclerosis | C10;C20 | Disease or Syndrome | CTD_human |
VDR | Neoplasms | C04 | Neoplastic Process | CTD_human |
VDR | Osteogenesis Imperfecta | C05;C16;C17 | Congenital Abnormality; Disease or Syndrome | GENOMICS_ENGLAND |
VDR | Osteoporosis | C05;C18 | Disease or Syndrome | CTD_human |
VDR | Osteoporosis, Senile | C05;C18 | Disease or Syndrome | CTD_human |
VDR | Prostatic Neoplasms | C04;C12 | Neoplastic Process | CTD_human |
VDR | Rickets | C05;C18 | Disease or Syndrome | CTD_human |
VDR | Schizophrenia | F03 | Mental or Behavioral Dysfunction | PSYGENET |
VDR | Single-Gene Defects | C16 | Disease or Syndrome | CTD_human |
VDR | Uremia | C12;C13 | Disease or Syndrome | CTD_human |
VDR | Vitamin D Deficiency | C18 | Disease or Syndrome | CTD_human |
VDR | Depressive Symptoms | F01 | Sign or Symptom | PSYGENET |
VDR | Benign Neoplasm | C04 | Neoplastic Process | CTD_human |
VDR | Pseudopelade | C17;C23 | Disease or Syndrome | CTD_human |
VDR | Androgenetic Alopecia | C17;C23 | Disease or Syndrome | CTD_human |
VDR | Female pattern alopecia (disorder) | C17;C23 | Disease or Syndrome | CTD_human |
VDR | Vitamin D-Dependent Rickets, Type 2A | C05;C12;C13;C16;C18 | Disease or Syndrome | CTD_human;UNIPROT |
VDR | Malignant neoplasm of prostate | C04;C12 | Neoplastic Process | CTD_human |
VDR | Epilepsy, Benign Psychomotor, Childhood | C10 | Disease or Syndrome | CTD_human |
VDR | Epilepsy, Lateral Temporal | C10 | Disease or Syndrome | CTD_human |
VDR | Breast Carcinoma | C04;C17 | Neoplastic Process | CTD_human |
VDR | Cerebral Infarction, Left Hemisphere | C10;C14 | Disease or Syndrome | CTD_human |
VDR | Cerebral Infarction, Right Hemisphere | C10;C14 | Disease or Syndrome | CTD_human |
VDR | Anterior Choroidal Artery Infarction | C10;C14 | Disease or Syndrome | CTD_human |
VDR | Subcortical Infarction | C10;C14 | Disease or Syndrome | CTD_human |
VDR | Multiple Sclerosis, Acute Fulminating | C10;C20 | Disease or Syndrome | CTD_human |
VDR | Post-Traumatic Osteoporosis | C05;C18 | Disease or Syndrome | CTD_human |
VDR | Posterior Choroidal Artery Infarction | C10;C14 | Disease or Syndrome | CTD_human |
VDR | Genetic Diseases, Inborn | C16 | Disease or Syndrome | CTD_human |
VDR | Mammary Neoplasms, Human | C04;C17 | Neoplastic Process | CTD_human |
VDR | Mammary Neoplasms | C04;C17 | Neoplastic Process | CTD_human |
VDR | Familial Hypophosphatemic Rickets | C05;C12;C13;C16;C18 | Disease or Syndrome | ORPHANET;UNIPROT |
VDR | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
VDR | Alopecia, Male Pattern | C17;C23 | Disease or Syndrome | CTD_human |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0001883 | Retinoic acid receptors-mediated signaling | pid | 30 | 235 |
pathway0001947 | RXR and RAR heterodimerization with other nuclear receptor | pid | 26 | 164 |
pathway0002393 | Validated transcriptional targets of deltaNp63 isoforms | pid | 47 | 101 |
pathway0002431 | Vitamin D metabolism and pathway | panther | 6 | 6 |
pathway0002685 | Hs_Drug_Induction_of_Bile_Acid_Pathway_WP2289_88593 | wikipathways | 9 | 12 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION | BP | VDR |
GO_DIGESTION | BP | VDR |
GO_MAMMARY_GLAND_MORPHOGENESIS | BP | VDR |
GO_POSITIVE_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION | BP | VDR |
GO_CELLULAR_RESPONSE_TO_LIPID | BP | VDR |
GO_MAMMARY_GLAND_EPITHELIUM_DEVELOPMENT | BP | VDR |
GO_POSITIVE_REGULATION_OF_EPIDERMAL_CELL_DIFFERENTIATION | BP | VDR |
GO_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY | BP | VDR |
GO_REGULATION_OF_VITAMIN_METABOLIC_PROCESS | BP | VDR |
GO_DECIDUALIZATION | BP | VDR |
GO_REGULATION_OF_LIPID_METABOLIC_PROCESS | BP | VDR |
GO_REGULATION_OF_KERATINOCYTE_PROLIFERATION | BP | VDR |
GO_POSITIVE_REGULATION_OF_EPIDERMIS_DEVELOPMENT | BP | VDR |
GO_MAMMARY_GLAND_DEVELOPMENT | BP | VDR |
GO_POSITIVE_REGULATION_OF_TISSUE_REMODELING | BP | VDR |
GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER | BP | VDR |
GO_DIGESTIVE_SYSTEM_PROCESS | BP | VDR |
GO_CELLULAR_RESPONSE_TO_NUTRIENT | BP | VDR |
GO_REGULATION_OF_EPIDERMAL_CELL_DIFFERENTIATION | BP | VDR |
GO_RESPONSE_TO_VITAMIN_D | BP | VDR |
GO_POSITIVE_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY | BP | VDR |
GO_MATERNAL_PROCESS_INVOLVED_IN_FEMALE_PREGNANCY | BP | VDR |
GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY | BP | VDR |
GO_RESPONSE_TO_VITAMIN | BP | VDR |
GO_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION | BP | VDR |
GO_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS | BP | VDR |
GO_REGULATION_OF_STEROID_METABOLIC_PROCESS | BP | VDR |
GO_TUBE_MORPHOGENESIS | BP | VDR |
GO_CELLULAR_RESPONSE_TO_VITAMIN | BP | VDR |
GO_CELLULAR_RESPONSE_TO_VITAMIN_D | BP | VDR |
GO_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS | BP | VDR |
GO_MATERNAL_PLACENTA_DEVELOPMENT | BP | VDR |
GO_RESPONSE_TO_ALCOHOL | BP | VDR |
GO_MAMMARY_GLAND_DUCT_MORPHOGENESIS | BP | VDR |
GO_BRANCHING_INVOLVED_IN_MAMMARY_GLAND_DUCT_MORPHOGENESIS | BP | VDR |
GO_INTESTINAL_ABSORPTION | BP | VDR |
GO_NEGATIVE_REGULATION_OF_KERATINOCYTE_PROLIFERATION | BP | VDR |
GO_LACTATION | BP | VDR |
GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_COMPLEX | CC | VDR |
GO_TRANSCRIPTION_FACTOR_ACTIVITY_DIRECT_LIGAND_REGULATED_SEQUENCE_SPECIFIC_DNA_BINDING | MF | VDR |
GO_ALCOHOL_BINDING | MF | VDR |
GO_RETINOIC_ACID_RECEPTOR_BINDING | MF | VDR |
GO_TRANSCRIPTION_FACTOR_BINDING | MF | VDR |
GO_RETINOID_X_RECEPTOR_BINDING | MF | VDR |