Name | Number of supported studies | Average coverage | |
---|---|---|---|
peripheral blood | 19 studies | 39% ± 14% | |
brain | 17 studies | 38% ± 21% | |
lung | 13 studies | 29% ± 11% | |
eye | 8 studies | 33% ± 18% | |
intestine | 6 studies | 21% ± 4% | |
heart | 5 studies | 29% ± 9% | |
liver | 5 studies | 37% ± 10% | |
bone marrow | 4 studies | 32% ± 12% | |
kidney | 4 studies | 27% ± 5% | |
breast | 4 studies | 21% ± 1% | |
lymph node | 4 studies | 34% ± 12% | |
adipose | 4 studies | 36% ± 8% | |
uterus | 3 studies | 25% ± 7% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 4415.28 | 1445 / 1445 | 100% | 28.93 | 183 / 183 |
lung | 100% | 7684.03 | 578 / 578 | 100% | 18.97 | 1154 / 1155 |
prostate | 100% | 5249.51 | 245 / 245 | 100% | 18.29 | 500 / 502 |
ovary | 100% | 5987.79 | 180 / 180 | 100% | 11.08 | 428 / 430 |
breast | 100% | 5175.19 | 459 / 459 | 99% | 21.46 | 1112 / 1118 |
uterus | 100% | 6954.90 | 170 / 170 | 99% | 18.20 | 454 / 459 |
pancreas | 100% | 3428.71 | 328 / 328 | 99% | 15.71 | 176 / 178 |
thymus | 100% | 4188.70 | 652 / 653 | 99% | 13.69 | 596 / 605 |
stomach | 100% | 3853.73 | 359 / 359 | 98% | 16.78 | 279 / 286 |
bladder | 100% | 6166.52 | 21 / 21 | 97% | 15.88 | 491 / 504 |
brain | 97% | 2590.14 | 2556 / 2642 | 100% | 18.85 | 705 / 705 |
intestine | 100% | 6408.80 | 966 / 966 | 96% | 13.61 | 507 / 527 |
skin | 100% | 4260.05 | 1808 / 1809 | 95% | 17.95 | 447 / 472 |
kidney | 100% | 2511.20 | 89 / 89 | 93% | 10.72 | 834 / 901 |
adrenal gland | 100% | 2526.95 | 258 / 258 | 90% | 8.88 | 208 / 230 |
liver | 99% | 1774.89 | 223 / 226 | 77% | 5.81 | 313 / 406 |
blood vessel | 100% | 5393.35 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 22.95 | 29 / 29 |
spleen | 100% | 10773.44 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 20.48 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 5.47 | 1 / 1 |
adipose | 100% | 5475.32 | 1203 / 1204 | 0% | 0 | 0 / 0 |
muscle | 100% | 2769.83 | 801 / 803 | 0% | 0 | 0 / 0 |
peripheral blood | 99% | 11713.20 | 921 / 929 | 0% | 0 | 0 / 0 |
heart | 97% | 2634.79 | 835 / 861 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 69% | 6.70 | 55 / 80 |
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_0009048 | Biological process | dosage compensation by inactivation of X chromosome |
GO_2001034 | Biological process | positive regulation of double-strand break repair via nonhomologous end joining |
GO_0051276 | Biological process | chromosome organization |
GO_2000042 | Biological process | negative regulation of double-strand break repair via homologous recombination |
GO_0045739 | Biological process | positive regulation of DNA repair |
GO_0006302 | Biological process | double-strand break repair |
GO_0043584 | Biological process | nose development |
GO_0001740 | Cellular component | Barr body |
GO_0000781 | Cellular component | chromosome, telomeric region |
GO_0035861 | Cellular component | site of double-strand break |
GO_0003677 | Molecular function | DNA binding |
GO_0042803 | Molecular function | protein homodimerization activity |
GO_0005515 | Molecular function | protein binding |
GO_0016887 | Molecular function | ATP hydrolysis activity |
GO_0005524 | Molecular function | ATP binding |
Gene name | SMCHD1 |
Protein name | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-) Structural maintenance of chromosomes flexible hinge domain containing 1 Alternative protein SMCHD1 |
Synonyms | KIAA0650 |
Description | FUNCTION: Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin . Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus . Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation . Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks . Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair . . |
Accessions | A0A8I5KQZ7 J3QSH1 A0A2R8YCU7 ENST00000584897.5 ENST00000577880.5 ENST00000645355.1 ENST00000686864.1 A0A2R8YE92 L0R6P7 ENST00000688342.1 A0A8I5KRS9 J3KRK8 ENST00000320876.11 [A6NHR9-1] A0A8I5KW02 A6NHR9 ENST00000642953.1 ENST00000585229.1 J3KTL8 ENST00000686763.1 |