I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| endothelial cell of lymphatic vessel | 21 studies | 42% ± 15% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| endothelial cell of lymphatic vessel | 21 studies | 42% ± 15% |
Insufficient scRNA-seq data for expression of TBX1 at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| prostate | 97% | 616.28 | 237 / 245 | 85% | 19.78 | 427 / 502 |
| lung | 96% | 488.87 | 552 / 578 | 59% | 9.11 | 676 / 1155 |
| breast | 92% | 954.13 | 422 / 459 | 61% | 9.25 | 678 / 1118 |
| bladder | 86% | 272.43 | 18 / 21 | 52% | 19.58 | 264 / 504 |
| uterus | 85% | 377.81 | 145 / 170 | 34% | 7.76 | 156 / 459 |
| esophagus | 72% | 233.51 | 1037 / 1445 | 47% | 11.45 | 86 / 183 |
| thymus | 99% | 1328.42 | 647 / 653 | 16% | 11.11 | 95 / 605 |
| muscle | 100% | 2601.24 | 803 / 803 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 18.48 | 1 / 1 |
| skin | 83% | 714.05 | 1509 / 1809 | 10% | 1.65 | 46 / 472 |
| adipose | 81% | 404.95 | 977 / 1204 | 0% | 0 | 0 / 0 |
| ovary | 51% | 228.71 | 91 / 180 | 22% | 3.73 | 94 / 430 |
| intestine | 63% | 201.03 | 604 / 966 | 4% | 0.69 | 19 / 527 |
| blood vessel | 56% | 216.70 | 746 / 1335 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 42% | 4.45 | 19 / 45 |
| stomach | 26% | 67.14 | 92 / 359 | 9% | 1.47 | 25 / 286 |
| adrenal gland | 12% | 30.22 | 32 / 258 | 4% | 0.51 | 9 / 230 |
| kidney | 9% | 22.25 | 8 / 89 | 2% | 0.34 | 18 / 901 |
| pancreas | 1% | 1.07 | 2 / 328 | 10% | 1.44 | 18 / 178 |
| lymph node | 0% | 0 | 0 / 0 | 10% | 0.48 | 3 / 29 |
| spleen | 9% | 16.82 | 21 / 241 | 0% | 0 | 0 / 0 |
| brain | 2% | 3.08 | 40 / 2642 | 6% | 0.93 | 40 / 705 |
| liver | 3% | 5.98 | 6 / 226 | 3% | 0.21 | 14 / 406 |
| heart | 3% | 6.62 | 25 / 861 | 0% | 0 | 0 / 0 |
| peripheral blood | 2% | 8.67 | 21 / 929 | 0% | 0 | 0 / 0 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 80 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| GO_0042473 | Biological process | outer ear morphogenesis |
| GO_0042475 | Biological process | odontogenesis of dentin-containing tooth |
| GO_0060037 | Biological process | pharyngeal system development |
| GO_0071300 | Biological process | cellular response to retinoic acid |
| GO_0007498 | Biological process | mesoderm development |
| GO_0007605 | Biological process | sensory perception of sound |
| GO_0001525 | Biological process | angiogenesis |
| GO_0048844 | Biological process | artery morphogenesis |
| GO_0003151 | Biological process | outflow tract morphogenesis |
| GO_0003148 | Biological process | outflow tract septum morphogenesis |
| GO_0001708 | Biological process | cell fate specification |
| GO_0008283 | Biological process | cell population proliferation |
| GO_0060415 | Biological process | muscle tissue morphogenesis |
| GO_0001755 | Biological process | neural crest cell migration |
| GO_0030855 | Biological process | epithelial cell differentiation |
| GO_0007507 | Biological process | heart development |
| GO_0007368 | Biological process | determination of left/right symmetry |
| GO_0021644 | Biological process | vagus nerve morphogenesis |
| GO_0006357 | Biological process | regulation of transcription by RNA polymerase II |
| GO_0060017 | Biological process | parathyroid gland development |
| GO_0030878 | Biological process | thyroid gland development |
| GO_0001934 | Biological process | positive regulation of protein phosphorylation |
| GO_2000027 | Biological process | regulation of animal organ morphogenesis |
| GO_0043410 | Biological process | positive regulation of MAPK cascade |
| GO_0090103 | Biological process | cochlea morphogenesis |
| GO_0097152 | Biological process | mesenchymal cell apoptotic process |
| GO_0060023 | Biological process | soft palate development |
| GO_0042693 | Biological process | muscle cell fate commitment |
| GO_0002053 | Biological process | positive regulation of mesenchymal cell proliferation |
| GO_0050679 | Biological process | positive regulation of epithelial cell proliferation |
| GO_0048703 | Biological process | embryonic viscerocranium morphogenesis |
| GO_0048752 | Biological process | semicircular canal morphogenesis |
| GO_0045893 | Biological process | positive regulation of DNA-templated transcription |
| GO_0007389 | Biological process | pattern specification process |
| GO_0048538 | Biological process | thymus development |
| GO_0035909 | Biological process | aorta morphogenesis |
| GO_0048644 | Biological process | muscle organ morphogenesis |
| GO_0007517 | Biological process | muscle organ development |
| GO_0001568 | Biological process | blood vessel development |
| GO_0009952 | Biological process | anterior/posterior pattern specification |
| GO_0060982 | Biological process | coronary artery morphogenesis |
| GO_0042472 | Biological process | inner ear morphogenesis |
| GO_0048701 | Biological process | embryonic cranial skeleton morphogenesis |
| GO_0045596 | Biological process | negative regulation of cell differentiation |
| GO_0008284 | Biological process | positive regulation of cell population proliferation |
| GO_0070166 | Biological process | enamel mineralization |
| GO_0048514 | Biological process | blood vessel morphogenesis |
| GO_0042474 | Biological process | middle ear morphogenesis |
| GO_0042471 | Biological process | ear morphogenesis |
| GO_0048384 | Biological process | retinoic acid receptor signaling pathway |
| GO_0001945 | Biological process | lymph vessel development |
| GO_2001054 | Biological process | negative regulation of mesenchymal cell apoptotic process |
| GO_0035176 | Biological process | social behavior |
| GO_0060325 | Biological process | face morphogenesis |
| GO_0044344 | Biological process | cellular response to fibroblast growth factor stimulus |
| GO_0003007 | Biological process | heart morphogenesis |
| GO_0043587 | Biological process | tongue morphogenesis |
| GO_2001037 | Biological process | positive regulation of tongue muscle cell differentiation |
| GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
| GO_0035019 | Biological process | somatic stem cell population maintenance |
| GO_0000785 | Cellular component | chromatin |
| GO_0005634 | Cellular component | nucleus |
| GO_0042803 | Molecular function | protein homodimerization activity |
| GO_0000978 | Molecular function | RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| GO_0000981 | Molecular function | DNA-binding transcription factor activity, RNA polymerase II-specific |
| GO_0043565 | Molecular function | sequence-specific DNA binding |
| GO_1990837 | Molecular function | sequence-specific double-stranded DNA binding |
| GO_0003700 | Molecular function | DNA-binding transcription factor activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | TBX1 |
| Protein name | T-box transcription factor 1 T-box 1 T-box 1 (T-box transcription factor TBX1 2) T-box transcription factor TBX1 (T-box protein 1) (Testis-specific T-box protein) |
| Synonyms | hCG_17892 |
| Description | FUNCTION: Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence . . |
| Accessions | ENST00000680333.1 ENST00000649276.2 ENST00000332710.8 [O43435-3] ENST00000329705.11 [O43435-1] ENST00000700274.1 Q152R5 A0A8V8TR38 D9ZGG0 O43435 ENST00000359500.7 [O43435-2] A0A3B3IS18 A0A7P0Z4A3 |
