TF name: | SHOX2 |
TF family: | Homeobox |
Ensembl gene ID: | ENSG00000168779 |
Ensembl protein ID: | ENSP00000419362, ENSP00000398704, ENSP00000397099, ENSP00000374240, ENSP00000479329 |
Entrez gene ID: | 6474 |
Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_220 | Cell line | Brain | BE2C_1 | 0.1025641025641 |
Sample_02_312 | Cell line | Neuroblastoma | SK-N-BE_2-C | 0.031914893617021 |
Sample_02_319 | Cell line | Neuroblastoma | NB-EBc1 | 0.11560693641618 |
Sample_02_338 | Cell line | Neuroblastoma | BE2 | 0.11764705882353 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr3 | 157820636 | 157820636 | C | G | exonic | SHOX2 | nonsynonymous | OV|1|469|0.00213 |
- | chr3 | 157820574 | 157820574 | C | A | exonic | SHOX2 | stopgain | LUAD|1|543|0.00184 |
- | chr3 | 157823714 | 157823714 | G | T | exonic | SHOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 157820570 | 157820570 | T | G | exonic | SHOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 157823481 | 157823481 | C | T | exonic | SHOX2 | synonymous | BRCA|1|982|0.00102 |
- | chr3 | 157820598 | 157820598 | G | A | exonic | SHOX2 | stopgain | UCEC|1|248|0.00403 |
- | chr3 | 157823800 | 157823800 | G | A | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 157820483 | 157820483 | G | A | exonic | SHOX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157816015 | 157816015 | G | A | exonic | SHOX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr3 | 157820536 | 157820536 | G | T | exonic | SHOX2 | synonymous | LUAD|4|543|0.00737 |
- | chr3 | 157815852 | 157815852 | C | G | exonic | SHOX2 | synonymous | CESC|1|194|0.00515 |
- | chr3 | 157818099 | 157818099 | A | G | exonic | SHOX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr3 | 157820671 | 157820671 | G | A | exonic | SHOX2 | synonymous | LUSC|1|178|0.00562 |
rs147753879 | chr3 | 157817678 | 157817678 | C | A | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 157823550 | 157823550 | T | C | exonic | SHOX2 | synonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr3 | 157818074 | 157818074 | T | A | exonic | SHOX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr3 | 157815867 | 157815867 | G | A | exonic | SHOX2 | synonymous | HNSC|1|512|0.00195 |
- | chr3 | 157815836 | 157815836 | C | T | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 157823754 | 157823754 | C | A | exonic | SHOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 157818062 | 157818062 | T | G | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 157815938 | 157815938 | C | T | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 157820521 | 157820521 | G | A | exonic | SHOX2 | synonymous | SARC|1|247|0.00405 |
- | chr3 | 157823590 | 157823590 | C | A | exonic | SHOX2 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr3 | 157817685 | 157817685 | A | G | exonic | SHOX2 | synonymous | LUAD|1|543|0.00184 |
- | chr3 | 157815991 | 157815991 | T | C | exonic | SHOX2 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr3 | 157818085 | 157818085 | G | A | exonic | SHOX2 | stopgain | UCEC|1|248|0.00403 |
- | chr3 | 157817719 | 157817719 | G | T | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
rs760931470 | chr3 | 157815958 | 157815958 | G | C | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 157816014 | 157816014 | C | T | exonic | SHOX2 | synonymous | SARC|1|247|0.00405 |
- | chr3 | 157815997 | 157815997 | G | A | exonic | SHOX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157817680 | 157817680 | T | C | exonic | SHOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 157820615 | 157820615 | G | A | exonic | SHOX2 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr3 | 157820489 | 157820489 | C | - | exonic | SHOX2 | frameshift | UCEC|1|248|0.00403 |
- | chr3 | 157820662 | 157820662 | C | G | exonic | SHOX2 | synonymous | HNSC|1|512|0.00195 |
- | chr3 | 157815841 | 157815841 | T | - | exonic | SHOX2 | frameshift | GBMLGG|1|820|0.00122,LGG|1|530|0.00189,SKCM|1|368|0.00272 |
- | chr3 | 157823666 | 157823666 | C | T | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 157820591 | 157820591 | C | T | exonic | SHOX2 | nonsynonymous | LIHC|2|373|0.00536 |
- | chr3 | 157817736 | 157817736 | A | C | exonic | SHOX2 | synonymous | UCEC|1|248|0.00403 |
- | chr3 | 157820574 | 157820574 | C | T | exonic | SHOX2 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr3 | 157816011 | 157816011 | G | A | exonic | SHOX2 | synonymous | PAAD|1|185|0.00541 |
- | chr3 | 157815934 | 157815934 | G | A | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
rs763913879 | chr3 | 157820669 | 157820669 | G | A | exonic | SHOX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157820545 | 157820545 | A | - | exonic | SHOX2 | frameshift | LIHC|1|373|0.00268 |
- | chr3 | 157823581 | 157823581 | - | ACCTCCTC | exonic | SHOX2 | frameshift | ACC|3|90|0.03333 |
rs376757024 | chr3 | 157823772 | 157823772 | C | G | exonic | SHOX2 | nonsynonymous | TGCT|1|155|0.00645 |
- | chr3 | 157817718 | 157817718 | G | A | exonic | SHOX2 | synonymous | LUAD|1|543|0.00184 |
rs747319392 | chr3 | 157820642 | 157820642 | G | A | exonic | SHOX2 | nonsynonymous | OV|1|469|0.00213 |
rs763184179 | chr3 | 157820578 | 157820578 | G | A | exonic | SHOX2 | synonymous | UCEC|1|248|0.00403 |
- | chr3 | 157815966 | 157815966 | G | A | exonic | SHOX2 | synonymous | UCEC|1|248|0.00403 |
- | chr3 | 157815975 | 157815975 | T | G | exonic | SHOX2 | synonymous | BLCA|1|396|0.00253 |
- | chr3 | 157823829 | 157823829 | G | T | UTR5 | SHOX2 | unknown | LUAD|1|543|0.00184 |
- | chr3 | 157823674 | 157823674 | C | T | exonic | SHOX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157820658 | 157820658 | C | T | exonic | SHOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 157820524 | 157820524 | G | A | exonic | SHOX2 | synonymous | PRAD|1|499|0.00200 |
- | chr3 | 157823777 | 157823777 | C | T | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 157815885 | 157815885 | G | C | exonic | SHOX2 | synonymous | LUAD|1|543|0.00184 |
- | chr3 | 157818058 | 157818058 | T | G | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 157820503 | 157820503 | C | T | exonic | SHOX2 | synonymous | HNSC|1|512|0.00195 |
- | chr3 | 157820545 | 157820545 | A | G | exonic | SHOX2 | synonymous | SKCM|1|368|0.00272 |
- | chr3 | 157820646 | 157820646 | C | A | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 157823782 | 157823782 | G | T | exonic | SHOX2 | nonsynonymous | HNSC|2|512|0.00391 |
- | chr3 | 157823778 | 157823778 | A | G | exonic | SHOX2 | synonymous | LUAD|2|543|0.00368 |
- | chr3 | 157820623 | 157820623 | T | C | exonic | SHOX2 | synonymous | SKCM|1|368|0.00272 |
- | chr3 | 157823784 | 157823784 | C | A | exonic | SHOX2 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr3 | 157816076 | 157816076 | G | A | exonic | SHOX2 | stopgain | BLCA|1|396|0.00253 |
- | chr3 | 157817725 | 157817725 | C | T | exonic | SHOX2 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr3 | 157820526 | 157820526 | C | T | exonic | SHOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 157820469 | 157820469 | G | A | exonic | SHOX2 | stopgain | LUAD|1|543|0.00184 |
- | chr3 | 157823897 | 157823897 | C | - | UTR5 | SHOX2 | unknown | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157820513 | 157820513 | C | T | exonic | SHOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 157823865 | 157823865 | T | - | UTR5 | SHOX2 | unknown | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157820514 | 157820514 | G | A | exonic | SHOX2 | stopgain | HNSC|2|512|0.00391 |
rs139394762 | chr3 | 157816030 | 157816030 | T | C | exonic | SHOX2 | nonsynonymous | SKCM|1|368|0.00272 |
rs145675724 | chr3 | 157816033 | 157816033 | G | T | exonic | SHOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 157815817 | 157815817 | C | T | exonic | SHOX2 | synonymous | HNSC|2|512|0.00391 |
- | chr3 | 157823797 | 157823797 | G | T | exonic | SHOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 157823740 | 157823740 | T | C | exonic | SHOX2 | nonsynonymous | LUAD|2|543|0.00368 |
- | chr3 | 157820590 | 157820590 | C | G | exonic | SHOX2 | synonymous | LIHC|1|373|0.00268 |
rs142921456 | chr3 | 157816016 | 157816016 | G | A | exonic | SHOX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr3 | 157818055 | 157818055 | G | C | exonic | SHOX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 157815970 | 157815970 | G | T | exonic | SHOX2 | nonsynonymous | LUAD|2|543|0.00368 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
SHOX2 | Bipolar Disorder | F03 | Mental or Behavioral Dysfunction | PSYGENET |
SHOX2 | Osteogenesis Imperfecta | C05;C16;C17 | Congenital Abnormality; Disease or Syndrome | GENOMICS_ENGLAND |
SHOX2 | Psychotic Disorders | F03 | Mental or Behavioral Dysfunction | PSYGENET |
SHOX2 | Schizophrenia | F03 | Mental or Behavioral Dysfunction | PSYGENET |
SHOX2 | Nonorganic psychosis | Mental or Behavioral Dysfunction | PSYGENET |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_POSITIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION | BP | SHOX2 |
GO_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT | BP | SHOX2 |
GO_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT | BP | SHOX2 |
GO_CARDIAC_CHAMBER_MORPHOGENESIS | BP | SHOX2 |
GO_REGULATION_OF_CARTILAGE_DEVELOPMENT | BP | SHOX2 |
GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT | BP | SHOX2 |
GO_FORELIMB_MORPHOGENESIS | BP | SHOX2 |
GO_CHONDROCYTE_DEVELOPMENT | BP | SHOX2 |
GO_EMBRYONIC_DIGESTIVE_TRACT_MORPHOGENESIS | BP | SHOX2 |
GO_CARDIAC_ATRIUM_DEVELOPMENT | BP | SHOX2 |
GO_REGULATION_OF_MESENCHYMAL_CELL_PROLIFERATION | BP | SHOX2 |
GO_EMBRYONIC_FORELIMB_MORPHOGENESIS | BP | SHOX2 |
GO_EMBRYONIC_DIGESTIVE_TRACT_DEVELOPMENT | BP | SHOX2 |
GO_CHONDROCYTE_DIFFERENTIATION | BP | SHOX2 |
GO_DIGESTIVE_TRACT_MORPHOGENESIS | BP | SHOX2 |
GO_APPENDAGE_DEVELOPMENT | BP | SHOX2 |
GO_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION | BP | SHOX2 |
GO_MUSCLE_ORGAN_MORPHOGENESIS | BP | SHOX2 |
GO_EMBRYONIC_SKELETAL_JOINT_DEVELOPMENT | BP | SHOX2 |
GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY | BP | SHOX2 |
GO_OSSIFICATION | BP | SHOX2 |
GO_CARTILAGE_DEVELOPMENT_INVOLVED_IN_ENDOCHONDRAL_BONE_MORPHOGENESIS | BP | SHOX2 |
GO_HEART_VALVE_DEVELOPMENT | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_MESENCHYMAL_CELL_PROLIFERATION | BP | SHOX2 |
GO_BONE_MORPHOGENESIS | BP | SHOX2 |
GO_ENDOCHONDRAL_BONE_MORPHOGENESIS | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_STEM_CELL_PROLIFERATION | BP | SHOX2 |
GO_REGULATION_OF_CELL_DEVELOPMENT | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION | BP | SHOX2 |
GO_POSITIVE_REGULATION_OF_AXONOGENESIS | BP | SHOX2 |
GO_REGULATION_OF_CELL_MORPHOGENESIS | BP | SHOX2 |