Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 18 studies | 50% ± 21% | |
lung | 15 studies | 29% ± 13% | |
peripheral blood | 15 studies | 27% ± 9% | |
eye | 8 studies | 45% ± 23% | |
heart | 5 studies | 37% ± 11% | |
kidney | 5 studies | 31% ± 9% | |
liver | 5 studies | 35% ± 17% | |
bone marrow | 4 studies | 29% ± 11% | |
lymph node | 4 studies | 20% ± 2% | |
intestine | 4 studies | 22% ± 7% | |
adipose | 4 studies | 40% ± 12% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 4698.17 | 1445 / 1445 | 100% | 36.77 | 183 / 183 |
uterus | 100% | 6060.45 | 170 / 170 | 100% | 24.75 | 459 / 459 |
breast | 100% | 5458.97 | 459 / 459 | 100% | 33.28 | 1116 / 1118 |
prostate | 100% | 4745.42 | 245 / 245 | 100% | 20.35 | 501 / 502 |
ovary | 100% | 6369.29 | 180 / 180 | 100% | 16.44 | 429 / 430 |
lung | 100% | 5512.28 | 578 / 578 | 100% | 27.40 | 1152 / 1155 |
thymus | 100% | 5765.14 | 653 / 653 | 100% | 24.11 | 602 / 605 |
brain | 100% | 2707.38 | 2631 / 2642 | 100% | 21.49 | 702 / 705 |
pancreas | 100% | 2598.58 | 327 / 328 | 99% | 20.73 | 177 / 178 |
bladder | 100% | 4971.86 | 21 / 21 | 99% | 20.94 | 498 / 504 |
adrenal gland | 100% | 3631.82 | 258 / 258 | 99% | 14.13 | 227 / 230 |
intestine | 100% | 5099.86 | 966 / 966 | 98% | 18.86 | 519 / 527 |
stomach | 100% | 3703.80 | 359 / 359 | 98% | 22.34 | 281 / 286 |
kidney | 100% | 3202.70 | 89 / 89 | 97% | 17.48 | 873 / 901 |
skin | 100% | 6003.81 | 1809 / 1809 | 94% | 19.85 | 444 / 472 |
liver | 100% | 1938.00 | 226 / 226 | 92% | 10.49 | 373 / 406 |
adipose | 100% | 5223.02 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 4946.00 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 18.37 | 29 / 29 |
muscle | 100% | 3421.18 | 803 / 803 | 0% | 0 | 0 / 0 |
spleen | 100% | 5261.66 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 26.90 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 6.05 | 1 / 1 |
heart | 99% | 2627.39 | 849 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 96% | 3926.16 | 896 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 75% | 8.52 | 60 / 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_0061780 | Biological process | mitotic cohesin loading |
GO_0048592 | Biological process | eye morphogenesis |
GO_0007605 | Biological process | sensory perception of sound |
GO_1990414 | Biological process | replication-born double-strand break repair via sister chromatid exchange |
GO_0003151 | Biological process | outflow tract morphogenesis |
GO_0045995 | Biological process | regulation of embryonic development |
GO_0035261 | Biological process | external genitalia morphogenesis |
GO_0035136 | Biological process | forelimb morphogenesis |
GO_0000070 | Biological process | mitotic sister chromatid segregation |
GO_0007064 | Biological process | mitotic sister chromatid cohesion |
GO_0061010 | Biological process | gallbladder development |
GO_0001656 | Biological process | metanephros development |
GO_0071169 | Biological process | establishment of protein localization to chromatin |
GO_2001224 | Biological process | positive regulation of neuron migration |
GO_0006974 | Biological process | DNA damage response |
GO_0061038 | Biological process | uterus morphogenesis |
GO_0034087 | Biological process | establishment of mitotic sister chromatid cohesion |
GO_0000122 | Biological process | negative regulation of transcription by RNA polymerase II |
GO_0006338 | Biological process | chromatin remodeling |
GO_0035115 | Biological process | embryonic forelimb morphogenesis |
GO_0048703 | Biological process | embryonic viscerocranium morphogenesis |
GO_0034088 | Biological process | maintenance of mitotic sister chromatid cohesion |
GO_0071481 | Biological process | cellular response to X-ray |
GO_0048638 | Biological process | regulation of developmental growth |
GO_0048557 | Biological process | embryonic digestive tract morphogenesis |
GO_0042634 | Biological process | regulation of hair cycle |
GO_0048565 | Biological process | digestive tract development |
GO_0007420 | Biological process | brain development |
GO_0050890 | Biological process | cognition |
GO_0048589 | Biological process | developmental growth |
GO_0008104 | Biological process | protein localization |
GO_0042471 | Biological process | ear morphogenesis |
GO_0045778 | Biological process | positive regulation of ossification |
GO_0060325 | Biological process | face morphogenesis |
GO_0003007 | Biological process | heart morphogenesis |
GO_0040018 | Biological process | positive regulation of multicellular organism growth |
GO_0045444 | Biological process | fat cell differentiation |
GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
GO_0035019 | Biological process | somatic stem cell population maintenance |
GO_0090694 | Cellular component | Scc2-Scc4 cohesin loading complex |
GO_0070062 | Cellular component | extracellular exosome |
GO_0005654 | Cellular component | nucleoplasm |
GO_0032116 | Cellular component | SMC loading complex |
GO_0005829 | Cellular component | cytosol |
GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
GO_0032039 | Cellular component | integrator complex |
GO_0000785 | Cellular component | chromatin |
GO_0005634 | Cellular component | nucleus |
GO_0061775 | Molecular function | cohesin loader activity |
GO_1990841 | Molecular function | promoter-specific chromatin binding |
GO_0003682 | Molecular function | chromatin binding |
GO_0070087 | Molecular function | chromo shadow domain binding |
GO_0003714 | Molecular function | transcription corepressor activity |
GO_0042826 | Molecular function | histone deacetylase binding |
GO_0036033 | Molecular function | mediator complex binding |
GO_0005515 | Molecular function | protein binding |
Gene name | NIPBL |
Protein name | Nipped-B protein NIPBL cohesin loading factor Nipped-B-like protein (Delangin) (SCC2 homolog) NIPBL protein |
Synonyms | SCC2 IDN3 |
Description | FUNCTION: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin . Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner . Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). . |
Accessions | A6QL62 ENST00000282516.13 [Q6KC79-1] Q6KC79 H0Y8M3 A0A590UJS4 Q6IEH8 ENST00000448238.2 [Q6KC79-2] ENST00000513819.1 A2RRA7 ENST00000652901.1 |