Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| endothelial cell | 4 studies | 21% ± 4% | |
| astrocyte | 4 studies | 27% ± 6% | |
| oligodendrocyte | 4 studies | 25% ± 4% | |
| epithelial cell | 3 studies | 22% ± 4% | |
| GABAergic neuron | 3 studies | 37% ± 4% | |
| glutamatergic neuron | 3 studies | 43% ± 7% | |
| oligodendrocyte precursor cell | 3 studies | 28% ± 8% | |
| dendritic cell | 3 studies | 19% ± 1% | |
| transit amplifying cell | 3 studies | 22% ± 4% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| ovary | 100% | 1777.82 | 180 / 180 | 100% | 10.23 | 430 / 430 |
| breast | 100% | 1978.72 | 459 / 459 | 100% | 19.71 | 1116 / 1118 |
| prostate | 100% | 2070.80 | 245 / 245 | 100% | 17.92 | 501 / 502 |
| brain | 100% | 1482.85 | 2636 / 2642 | 100% | 19.47 | 705 / 705 |
| thymus | 100% | 2159.60 | 653 / 653 | 99% | 18.00 | 601 / 605 |
| skin | 100% | 1980.67 | 1809 / 1809 | 99% | 18.62 | 468 / 472 |
| pancreas | 100% | 1085.17 | 327 / 328 | 99% | 12.26 | 177 / 178 |
| kidney | 100% | 1473.20 | 89 / 89 | 99% | 11.23 | 890 / 901 |
| esophagus | 100% | 1748.63 | 1445 / 1445 | 98% | 11.46 | 180 / 183 |
| liver | 100% | 1179.95 | 226 / 226 | 98% | 9.28 | 399 / 406 |
| uterus | 100% | 2077.62 | 170 / 170 | 98% | 16.22 | 450 / 459 |
| lung | 100% | 1986.45 | 578 / 578 | 98% | 12.82 | 1129 / 1155 |
| bladder | 100% | 2095.38 | 21 / 21 | 98% | 14.15 | 492 / 504 |
| adrenal gland | 100% | 2036.11 | 258 / 258 | 96% | 13.13 | 221 / 230 |
| stomach | 100% | 1484.07 | 359 / 359 | 92% | 10.72 | 264 / 286 |
| intestine | 100% | 1835.42 | 966 / 966 | 91% | 10.84 | 479 / 527 |
| adipose | 100% | 1893.06 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 24.99 | 29 / 29 |
| muscle | 100% | 2759.65 | 803 / 803 | 0% | 0 | 0 / 0 |
| spleen | 100% | 2203.53 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 17.10 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 6.69 | 1 / 1 |
| blood vessel | 100% | 2067.87 | 1334 / 1335 | 0% | 0 | 0 / 0 |
| heart | 98% | 2377.34 | 848 / 861 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 94% | 9.19 | 75 / 80 |
| peripheral blood | 93% | 1566.37 | 863 / 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_0048298 | Biological process | positive regulation of isotype switching to IgA isotypes |
| GO_0006303 | Biological process | double-strand break repair via nonhomologous end joining |
| GO_0007283 | Biological process | spermatogenesis |
| GO_0043060 | Biological process | meiotic metaphase I homologous chromosome alignment |
| GO_0007129 | Biological process | homologous chromosome pairing at meiosis |
| GO_0009617 | Biological process | response to bacterium |
| GO_0045141 | Biological process | meiotic telomere clustering |
| GO_0016321 | Biological process | female meiosis chromosome segregation |
| GO_0048304 | Biological process | positive regulation of isotype switching to IgG isotypes |
| GO_0008630 | Biological process | intrinsic apoptotic signaling pathway in response to DNA damage |
| GO_0000289 | Biological process | nuclear-transcribed mRNA poly(A) tail shortening |
| GO_0000712 | Biological process | resolution of meiotic recombination intermediates |
| GO_0051257 | Biological process | meiotic spindle midzone assembly |
| GO_0045190 | Biological process | isotype switching |
| GO_0016446 | Biological process | somatic hypermutation of immunoglobulin genes |
| GO_0006298 | Biological process | mismatch repair |
| GO_0007060 | Biological process | male meiosis chromosome segregation |
| GO_0045950 | Biological process | negative regulation of mitotic recombination |
| GO_0048477 | Biological process | oogenesis |
| GO_0000795 | Cellular component | synaptonemal complex |
| GO_0005715 | Cellular component | late recombination nodule |
| GO_0016020 | Cellular component | membrane |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0005712 | Cellular component | chiasma |
| GO_0032389 | Cellular component | MutLalpha complex |
| GO_0005694 | Cellular component | chromosome |
| GO_0001673 | Cellular component | male germ cell nucleus |
| GO_0005634 | Cellular component | nucleus |
| GO_0019899 | Molecular function | enzyme binding |
| GO_0032407 | Molecular function | MutSalpha complex binding |
| GO_0003682 | Molecular function | chromatin binding |
| GO_0003697 | Molecular function | single-stranded DNA binding |
| GO_0140664 | Molecular function | ATP-dependent DNA damage sensor activity |
| GO_0032137 | Molecular function | guanine/thymine mispair binding |
| GO_0005524 | Molecular function | ATP binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0016887 | Molecular function | ATP hydrolysis activity |
| Gene name | MLH1 |
| Protein name | MLH1-Ex10 isoform MutL-like 1 protein DNA mismatch repair protein Mlh1 (MutL protein homolog 1) MLH1+ins1a isoform MLH1 Truncated mismatch repair protein MLH1 MLH1-Ex(9-10) isoform MutL homolog 1 protein Mismatch repair protein MutL homolog 1 MLH1-Ex6 isoform MLH1-Ex(15-18) isoform Mutant mismatch repair protein Alternative protein MLH1 MLH1-Ex(14-18) isoform |
| Synonyms | COCA2 |
| Description | FUNCTION: Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis. . |
| Accessions | ENST00000429117.6 [P40692-3] H0Y793 A8W2I7 ENST00000492474.6 [P40692-2] ENST00000457004.5 L8E8C0 A8W2J0 A8W2K8 A0A087WX20 ENST00000539477.6 [P40692-2] F2Z298 ENST00000435176.5 [P40692-3] Q0ZAJ6 ENST00000673673.2 A8W2J6 A8W2K2 A8W2M1 E9PF25 ENST00000673947.1 A0A669KBB4 A0A669KBK2 ENST00000536378.5 [P40692-2] ENST00000673715.1 H0Y5U4 A8W2L2 Q0ZAJ7 ENST00000231790.8 [P40692-1] Q64FK0 ENST00000432299.6 A8W2K5 P40692 ENST00000616768.6 ENST00000458009.6 ENST00000674111.1 ENST00000447829.6 ENST00000673897.1 A0A669KB03 ENST00000441265.6 ENST00000450420.6 Q0ZAJ8 E7EUC9 ENST00000674019.1 [P40692-2] A5JTV0 Q0ZAJ4 A8W2L5 ENST00000429117.5 ENST00000673899.1 A0A669KAW3 H0Y818 A8W2L8 ENST00000455445.6 [P40692-2] A1YR10 H0Y4N0 H0Y806 Q0ZAJ3 ENST00000413740.2 Q0ZAJ5 ENST00000458205.6 [P40692-2] ENST00000673972.1 Q6VBB8 ENST00000456676.7 A8W2J9 ENST00000454028.5 A5JTV1 H0Y5L7 C4PFY8 ENST00000413212.2 A8W2J3 C9JZ54 |
