Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_069 | Cell line | Brain | SF268 | 0.053435114503817 |
Sample_02_205 | Tissue | Stomach | Gastric_Primary_Sample_T | 0.12592592592593 |
Sample_02_219 | Cell line | Mammary Gland | MDA-MB-231 | 0.26470588235294 |
Sample_02_280 | Cell line | Mammary Gland | SUM159_DMSO_24h | 0.066666666666667 |
Sample_02_317 | Cell line | Neuroblastoma | GICAN | 0.067567567567568 |
Sample_02_361 | Cell line | Colon | HT29_DMSO | 0.1858407079646 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr11 | 46341910 | 46341910 | G | A | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46333948 | 46333948 | C | A | exonic | CREB3L1 | nonsynonymous | PRAD|1|499|0.00200 |
- | chr11 | 46332681 | 46332681 | A | G | exonic | CREB3L1 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr11 | 46332690 | 46332690 | G | C | exonic | CREB3L1 | nonsynonymous | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
rs745959450 | chr11 | 46342045 | 46342045 | G | A | exonic | CREB3L1 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr11 | 46341928 | 46341928 | C | T | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46334219 | 46334219 | G | C | exonic | CREB3L1 | nonsynonymous | BRCA|2|982|0.00204 |
rs774678396 | chr11 | 46341871 | 46341871 | C | T | exonic | CREB3L1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 46332593 | 46332593 | G | A | exonic | CREB3L1 | synonymous | PAAD|1|185|0.00541 |
- | chr11 | 46342294 | 46342294 | T | C | exonic | CREB3L1 | stoploss | UCEC|1|248|0.00403 |
- | chr11 | 46338915 | 46338915 | G | A | exonic | CREB3L1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs181804070 | chr11 | 46321515 | 46321515 | G | A | exonic | CREB3L1 | synonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr11 | 46339028 | 46339028 | G | A | exonic | CREB3L1 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 46329438 | 46329438 | G | C | exonic | CREB3L1 | nonsynonymous | CESC|1|194|0.00515 |
- | chr11 | 46333924 | 46333924 | C | T | exonic | CREB3L1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 46332687 | 46332687 | A | G | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46341923 | 46341923 | G | T | exonic | CREB3L1 | nonsynonymous | LUAD|1|543|0.00184 |
rs766233746 | chr11 | 46329488 | 46329488 | C | T | exonic | CREB3L1 | synonymous | BLCA|1|396|0.00253 |
- | chr11 | 46331554 | 46331554 | G | C | exonic | CREB3L1 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr11 | 46338971 | 46338971 | C | A | exonic | CREB3L1 | nonsynonymous | UCEC|1|248|0.00403 |
rs376081099 | chr11 | 46332639 | 46332639 | G | A | exonic | CREB3L1 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr11 | 46321507 | 46321507 | C | T | exonic | CREB3L1 | nonsynonymous | ACC|1|90|0.01111 |
- | chr11 | 46299676 | 46299676 | T | C | exonic | CREB3L1 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr11 | 46342074 | 46342074 | C | A | exonic | CREB3L1 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr11 | 46332668 | 46332668 | C | A | exonic | CREB3L1 | synonymous | UCEC|1|248|0.00403 |
- | chr11 | 46321557 | 46321557 | C | A | exonic | CREB3L1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs368441030 | chr11 | 46342033 | 46342033 | G | A | exonic | CREB3L1 | nonsynonymous | LUAD|1|543|0.00184 |
rs559259997 | chr11 | 46339020 | 46339020 | G | A | exonic | CREB3L1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr11 | 46329400 | 46329400 | A | T | exonic | CREB3L1 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr11 | 46333875 | 46333875 | G | T | splicing | CREB3L1 | splicing | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 46333926 | 46333926 | G | A | exonic | CREB3L1 | synonymous | SARC|1|247|0.00405 |
- | chr11 | 46334007 | 46334007 | G | A | exonic | CREB3L1 | synonymous | SKCM|2|368|0.00543 |
- | chr11 | 46342292 | 46342292 | C | T | exonic | CREB3L1 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr11 | 46333971 | 46333971 | C | A | exonic | CREB3L1 | synonymous | BLCA|1|396|0.00253 |
- | chr11 | 46334468 | 46334468 | C | A | exonic | CREB3L1 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr11 | 46339005 | 46339005 | C | A | exonic | CREB3L1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs748283344 | chr11 | 46334184 | 46334184 | C | T | exonic | CREB3L1 | nonsynonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr11 | 46334010 | 46334010 | G | A | exonic | CREB3L1 | synonymous | SKCM|2|368|0.00543 |
- | chr11 | 46332654 | 46332654 | C | A | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46342259 | 46342259 | A | G | splicing | CREB3L1 | splicing | COAD|1|367|0.00272,COADREAD|1|489|0.00204,KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr11 | 46321584 | 46321584 | G | C | exonic | CREB3L1 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr11 | 46329480 | 46329480 | - | C | exonic | CREB3L1 | frameshift | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr11 | 46341859 | 46341859 | T | C | exonic | CREB3L1 | nonsynonymous | GBM|1|290|0.00345,GBMLGG|1|820|0.00122 |
rs771754544 | chr11 | 46332655 | 46332655 | G | A | exonic | CREB3L1 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr11 | 46341984 | 46341984 | C | T | exonic | CREB3L1 | synonymous | PAAD|1|185|0.00541 |
- | chr11 | 46321504 | 46321504 | G | T | exonic | CREB3L1 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr11 | 46329501 | 46329501 | A | G | exonic | CREB3L1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr11 | 46321636 | 46321636 | G | A | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46321678 | 46321678 | C | A | exonic | CREB3L1 | nonsynonymous | CHOL|1|35|0.02857 |
- | chr11 | 46341932 | 46341932 | C | T | exonic | CREB3L1 | nonsynonymous | BRCA|1|982|0.00102 |
- | chr11 | 46341831 | 46341831 | C | G | exonic | CREB3L1 | synonymous | HNSC|1|512|0.00195 |
rs545047399 | chr11 | 46332692 | 46332692 | G | A | exonic | CREB3L1 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204,OV|1|469|0.00213 |
- | chr11 | 46337937 | 46337937 | G | T | splicing | CREB3L1 | splicing | OV|1|469|0.00213 |
rs776390325 | chr11 | 46332608 | 46332608 | - | C | exonic | CREB3L1 | frameshift | BRCA|1|982|0.00102 |
- | chr11 | 46341862 | 46341862 | G | A | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
rs201046043 | chr11 | 46337910 | 46337910 | G | A | exonic | CREB3L1 | nonsynonymous | HNSC|1|512|0.00195 |
rs201288428 | chr11 | 46331546 | 46331546 | G | A | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46341875 | 46341875 | G | A | exonic | CREB3L1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 46321549 | 46321549 | A | G | exonic | CREB3L1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs777788054 | chr11 | 46334005 | 46334005 | C | T | exonic | CREB3L1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs755740355 | chr11 | 46321656 | 46321656 | C | T | exonic | CREB3L1 | synonymous | GBM|1|290|0.00345,GBMLGG|1|820|0.00122 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
CREB3L1 | Osteogenesis Imperfecta | C05;C16;C17 | Congenital Abnormality; Disease or Syndrome | GENOMICS_ENGLAND |
CREB3L1 | Osteogenesis imperfecta type III (disorder) | C05;C16;C17 | Disease or Syndrome | ORPHANET |
CREB3L1 | Fibromyxosarcoma | Neoplastic Process | ORPHANET |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0001005 | Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway | panther | 126 | 1529 |
pathway0002297 | Transcription regulation by bZIP transcription factor | panther | 42 | 653 |
pathway0002633 | Vasopressin-regulated water reabsorption | kegg | 35 | 126 |
pathway0002797 | Hs_Lung_fibrosis_WP3624_91475 | wikipathways | 23 | 45 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS | BP | CREB3L1 |
GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY | BP | CREB3L1 |
GO_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY | BP | CREB3L1 |
GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_IN_RESPONSE_TO_STRESS | BP | CREB3L1 |
GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY | BP | CREB3L1 |
GO_NEGATIVE_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY | BP | CREB3L1 |
GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY | BP | CREB3L1 |
GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_IN_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS | BP | CREB3L1 |
GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY | BP | CREB3L1 |
GO_CAMP_RESPONSE_ELEMENT_BINDING | MF | CREB3L1 |