I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| oligodendrocyte precursor cell | 7 studies | 32% ± 14% | |
| transit amplifying cell | 3 studies | 28% ± 9% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| oligodendrocyte precursor cell | 7 studies | 32% ± 14% | |
| transit amplifying cell | 3 studies | 28% ± 9% |
Insufficient scRNA-seq data for expression of BLM at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| brain | 100% | 405.88 | 2639 / 2642 | 83% | 8.45 | 584 / 705 |
| lung | 93% | 176.03 | 535 / 578 | 83% | 5.40 | 958 / 1155 |
| skin | 82% | 262.36 | 1484 / 1809 | 89% | 6.82 | 422 / 472 |
| breast | 76% | 89.47 | 350 / 459 | 78% | 4.84 | 871 / 1118 |
| intestine | 59% | 175.07 | 573 / 966 | 88% | 5.94 | 466 / 527 |
| stomach | 57% | 105.91 | 204 / 359 | 91% | 6.11 | 260 / 286 |
| esophagus | 46% | 97.87 | 661 / 1445 | 96% | 8.33 | 175 / 183 |
| bladder | 48% | 57.38 | 10 / 21 | 87% | 5.00 | 440 / 504 |
| uterus | 26% | 24.95 | 44 / 170 | 93% | 6.71 | 426 / 459 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 11.31 | 29 / 29 |
| spleen | 100% | 659.00 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 98% | 7.62 | 44 / 45 |
| peripheral blood | 97% | 907.05 | 903 / 929 | 0% | 0 | 0 / 0 |
| heart | 94% | 506.62 | 810 / 861 | 0% | 0 | 0 / 0 |
| thymus | 66% | 73.34 | 428 / 653 | 17% | 1.39 | 105 / 605 |
| ovary | 13% | 14.90 | 24 / 180 | 68% | 3.12 | 292 / 430 |
| adipose | 80% | 115.38 | 967 / 1204 | 0% | 0 | 0 / 0 |
| adrenal gland | 41% | 38.82 | 107 / 258 | 17% | 0.67 | 39 / 230 |
| muscle | 57% | 189.93 | 454 / 803 | 0% | 0 | 0 / 0 |
| prostate | 48% | 50.07 | 118 / 245 | 6% | 0.22 | 32 / 502 |
| pancreas | 11% | 10.31 | 36 / 328 | 41% | 1.87 | 73 / 178 |
| kidney | 31% | 41.88 | 28 / 89 | 7% | 0.25 | 64 / 901 |
| liver | 14% | 17.59 | 32 / 226 | 23% | 0.80 | 93 / 406 |
| blood vessel | 20% | 22.56 | 264 / 1335 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 9% | 0.24 | 7 / 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 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0032508 | Biological process | DNA duplex unwinding |
| GO_0051260 | Biological process | protein homooligomerization |
| GO_0090656 | Biological process | t-circle formation |
| GO_0006281 | Biological process | DNA repair |
| GO_0010165 | Biological process | response to X-ray |
| GO_0071139 | Biological process | resolution of DNA recombination intermediates |
| GO_0006268 | Biological process | DNA unwinding involved in DNA replication |
| GO_0000079 | Biological process | regulation of cyclin-dependent protein serine/threonine kinase activity |
| GO_0051782 | Biological process | negative regulation of cell division |
| GO_0006974 | Biological process | DNA damage response |
| GO_0072711 | Biological process | cellular response to hydroxyurea |
| GO_0072757 | Biological process | cellular response to camptothecin |
| GO_0006260 | Biological process | DNA replication |
| GO_0000724 | Biological process | double-strand break repair via homologous recombination |
| GO_0007095 | Biological process | mitotic G2 DNA damage checkpoint signaling |
| GO_0051259 | Biological process | protein complex oligomerization |
| GO_0000729 | Biological process | DNA double-strand break processing |
| GO_0031297 | Biological process | replication fork processing |
| GO_0044806 | Biological process | G-quadruplex DNA unwinding |
| GO_0045893 | Biological process | positive regulation of DNA-templated transcription |
| GO_0032201 | Biological process | telomere maintenance via semi-conservative replication |
| GO_0000723 | Biological process | telomere maintenance |
| GO_0090329 | Biological process | regulation of DNA-templated DNA replication |
| GO_0061820 | Biological process | telomeric D-loop disassembly |
| GO_0006310 | Biological process | DNA recombination |
| GO_0071479 | Biological process | cellular response to ionizing radiation |
| GO_0045910 | Biological process | negative regulation of DNA recombination |
| GO_0005730 | Cellular component | nucleolus |
| GO_0031422 | Cellular component | RecQ family helicase-topoisomerase III complex |
| GO_0000228 | Cellular component | nuclear chromosome |
| GO_0005657 | Cellular component | replication fork |
| GO_0032991 | Cellular component | protein-containing complex |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0016363 | Cellular component | nuclear matrix |
| GO_0005829 | Cellular component | cytosol |
| GO_0016605 | Cellular component | PML body |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0000800 | Cellular component | lateral element |
| GO_0005694 | Cellular component | chromosome |
| GO_0000781 | Cellular component | chromosome, telomeric region |
| GO_0005634 | Cellular component | nucleus |
| GO_0003677 | Molecular function | DNA binding |
| GO_0042803 | Molecular function | protein homodimerization activity |
| GO_0061821 | Molecular function | telomeric D-loop binding |
| GO_0004386 | Molecular function | helicase activity |
| GO_0140677 | Molecular function | molecular function activator activity |
| GO_1905773 | Molecular function | 8-hydroxy-2'-deoxyguanosine DNA binding |
| GO_1990814 | Molecular function | DNA/DNA annealing activity |
| GO_0003697 | Molecular function | single-stranded DNA binding |
| GO_0009378 | Molecular function | four-way junction helicase activity |
| GO_0061849 | Molecular function | telomeric G-quadruplex DNA binding |
| GO_0042802 | Molecular function | identical protein binding |
| GO_0000405 | Molecular function | bubble DNA binding |
| GO_0000400 | Molecular function | four-way junction DNA binding |
| GO_0051880 | Molecular function | G-quadruplex DNA binding |
| GO_0003678 | Molecular function | DNA helicase activity |
| GO_0008270 | Molecular function | zinc ion binding |
| GO_0002039 | Molecular function | p53 binding |
| GO_0005524 | Molecular function | ATP binding |
| GO_0061749 | Molecular function | forked DNA-dependent helicase activity |
| GO_0016853 | Molecular function | isomerase activity |
| GO_0008094 | Molecular function | ATP-dependent activity, acting on DNA |
| GO_0000403 | Molecular function | Y-form DNA binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0016887 | Molecular function | ATP hydrolysis activity |
| GO_0043138 | Molecular function | 3'-5' DNA helicase activity |
| Gene name | BLM |
| Protein name | BLM protein RecQ-like DNA helicase BLM (EC 5.6.2.4) (Bloom syndrome protein) (DNA 3'-5' helicase BLM) (DNA helicase, RecQ-like type 2) (RecQ2) (RecQ protein-like 3) BLM RecQ like helicase DNA helicase (EC 3.6.4.12) |
| Synonyms | RECQ2 RECQL3 |
| Description | FUNCTION: ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction . Participates in DNA replication and repair . Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA . Negatively regulates sister chromatid exchange (SCE) . Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution . Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction . Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity). .; FUNCTION: (Microbial infection) Eliminates nuclear HIV-1 cDNA, thereby suppressing immune sensing and proviral hyper-integration. . |
| Accessions | ENST00000355112.8 P54132 B7ZKN7 ENST00000648453.1 ENST00000559724.5 A0A7P0TBM9 ENST00000680772.1 ENST00000560509.5 H0YLV8 Q3B7X0 ENST00000681142.1 H0YNU5 A0A3B3IT82 |
