Name | Number of supported studies | Average coverage | |
---|---|---|---|
peripheral blood | 10 studies | 23% ± 11% | |
brain | 7 studies | 24% ± 4% | |
lung | 6 studies | 30% ± 10% | |
intestine | 5 studies | 26% ± 12% | |
lymph node | 5 studies | 23% ± 6% | |
kidney | 4 studies | 21% ± 7% | |
eye | 4 studies | 26% ± 11% | |
placenta | 3 studies | 20% ± 2% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 2690.18 | 1444 / 1445 | 100% | 15.36 | 183 / 183 |
brain | 100% | 3152.94 | 2638 / 2642 | 100% | 23.92 | 705 / 705 |
uterus | 100% | 3680.16 | 170 / 170 | 100% | 22.26 | 458 / 459 |
ovary | 100% | 4633.74 | 180 / 180 | 100% | 18.58 | 429 / 430 |
thymus | 100% | 3436.14 | 653 / 653 | 100% | 20.55 | 603 / 605 |
stomach | 100% | 2371.54 | 359 / 359 | 100% | 15.78 | 285 / 286 |
prostate | 100% | 2987.77 | 245 / 245 | 100% | 17.22 | 500 / 502 |
skin | 100% | 3854.99 | 1809 / 1809 | 100% | 21.43 | 470 / 472 |
intestine | 100% | 3029.67 | 966 / 966 | 99% | 17.65 | 524 / 527 |
lung | 100% | 2563.92 | 576 / 578 | 100% | 18.98 | 1151 / 1155 |
bladder | 100% | 2801.14 | 21 / 21 | 99% | 19.50 | 500 / 504 |
breast | 100% | 3192.12 | 459 / 459 | 99% | 17.00 | 1106 / 1118 |
kidney | 100% | 3212.51 | 89 / 89 | 99% | 13.58 | 889 / 901 |
pancreas | 100% | 1860.35 | 327 / 328 | 99% | 15.34 | 176 / 178 |
adrenal gland | 100% | 3409.75 | 258 / 258 | 96% | 11.85 | 221 / 230 |
liver | 100% | 1505.83 | 226 / 226 | 91% | 9.46 | 369 / 406 |
adipose | 100% | 2698.76 | 1204 / 1204 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 100% | 19.60 | 80 / 80 |
lymph node | 0% | 0 | 0 / 0 | 100% | 42.26 | 29 / 29 |
spleen | 100% | 3900.11 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 20.66 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 9.19 | 1 / 1 |
blood vessel | 100% | 2420.19 | 1333 / 1335 | 0% | 0 | 0 / 0 |
muscle | 100% | 2060.81 | 801 / 803 | 0% | 0 | 0 / 0 |
heart | 98% | 2097.66 | 840 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 96% | 3116.17 | 890 / 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 |
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_0008285 | Biological process | negative regulation of cell population proliferation |
GO_0030071 | Biological process | regulation of mitotic metaphase/anaphase transition |
GO_0001835 | Biological process | blastocyst hatching |
GO_0051091 | Biological process | positive regulation of DNA-binding transcription factor activity |
GO_0045582 | Biological process | positive regulation of T cell differentiation |
GO_0015074 | Biological process | DNA integration |
GO_0006357 | Biological process | regulation of transcription by RNA polymerase II |
GO_2000045 | Biological process | regulation of G1/S transition of mitotic cell cycle |
GO_0045663 | Biological process | positive regulation of myoblast differentiation |
GO_0006338 | Biological process | chromatin remodeling |
GO_0070316 | Biological process | regulation of G0 to G1 transition |
GO_1902459 | Biological process | positive regulation of stem cell population maintenance |
GO_0045597 | Biological process | positive regulation of cell differentiation |
GO_0043923 | Biological process | positive regulation by host of viral transcription |
GO_2000819 | Biological process | regulation of nucleotide-excision repair |
GO_0001188 | Biological process | RNA polymerase I preinitiation complex assembly |
GO_1901838 | Biological process | positive regulation of transcription of nucleolar large rRNA by RNA polymerase I |
GO_0007399 | Biological process | nervous system development |
GO_0006337 | Biological process | nucleosome disassembly |
GO_0070365 | Biological process | hepatocyte differentiation |
GO_0039692 | Biological process | single stranded viral RNA replication via double stranded DNA intermediate |
GO_1902661 | Biological process | positive regulation of glucose mediated signaling pathway |
GO_2000781 | Biological process | positive regulation of double-strand break repair |
GO_0045815 | Biological process | transcription initiation-coupled chromatin remodeling |
GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
GO_0005730 | Cellular component | nucleolus |
GO_0071565 | Cellular component | nBAF complex |
GO_0043073 | Cellular component | germ cell nucleus |
GO_0000228 | Cellular component | nuclear chromosome |
GO_0071564 | Cellular component | npBAF complex |
GO_0000776 | Cellular component | kinetochore |
GO_0032991 | Cellular component | protein-containing complex |
GO_0016514 | Cellular component | SWI/SNF complex |
GO_0005654 | Cellular component | nucleoplasm |
GO_0001650 | Cellular component | fibrillar center |
GO_0016363 | Cellular component | nuclear matrix |
GO_0016586 | Cellular component | RSC-type complex |
GO_0035060 | Cellular component | brahma complex |
GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
GO_0000785 | Cellular component | chromatin |
GO_0001741 | Cellular component | XY body |
GO_0140092 | Cellular component | bBAF complex |
GO_0005634 | Cellular component | nucleus |
GO_0003677 | Molecular function | DNA binding |
GO_0030957 | Molecular function | Tat protein binding |
GO_0031492 | Molecular function | nucleosomal DNA binding |
GO_0042802 | Molecular function | identical protein binding |
GO_0002039 | Molecular function | p53 binding |
GO_0001164 | Molecular function | RNA polymerase I core promoter sequence-specific DNA binding |
GO_0003713 | Molecular function | transcription coactivator activity |
GO_0005515 | Molecular function | protein binding |
Gene name | SMARCB1 |
Protein name | Integrase interactor 1 protein isoform D Integrase interactor 1 protein isoform F SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 SWI/SNF-related matrix-associated protein SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1) Integrase interactor 1 protein isoform E SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (BRG1-associated factor 47) (BAF47) (Integrase interactor 1 protein) (SNF5 homolog) (hSNF5) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Synonyms | BAF47 INI1 SNF5L1 hCG_41099 |
Description | FUNCTION: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. . |
Accessions | ENST00000644036.2 [Q12824-1] A0A2R8Y5N5 ENST00000629690.2 ENST00000630853.1 ENST00000642727.1 ENST00000407082.4 Q86WI7 ENST00000417137.6 A0A2R8YDN6 ENST00000344921.11 ENST00000263121.12 Q12824 Q6Q321 ENST00000635578.1 ENST00000618915.3 [Q12824-1] ENST00000407422.8 [Q12824-2] A0A0U1RRB8 A0A0U1RQQ2 ENST00000631333.2 [Q12824-2] Q86WI8 Q86WI6 C9JTA6 A0A2R8Y5Z2 B5MCL5 ENST00000644619.1 A0A0G2JRV3 ENST00000634926.1 G5E975 ENST00000647057.1 A0A2R8YEE8 ENST00000644462.1 ENST00000629656.2 A0A0G2JSE9 |