Name | Number of supported studies | Average coverage | |
---|---|---|---|
B cell | 6 studies | 31% ± 6% | |
plasma cell | 5 studies | 30% ± 8% | |
epithelial cell | 4 studies | 28% ± 9% | |
precursor B cell | 4 studies | 45% ± 7% | |
basal cell | 4 studies | 23% ± 4% | |
germinal center B cell | 4 studies | 37% ± 11% | |
brush cell | 4 studies | 39% ± 19% | |
effector memory CD8-positive, alpha-beta T cell | 3 studies | 17% ± 1% | |
plasmablast | 3 studies | 38% ± 7% | |
immature B cell | 3 studies | 32% ± 12% | |
pro-B cell | 3 studies | 47% ± 7% | |
endothelial cell | 3 studies | 19% ± 2% | |
ciliated cell | 3 studies | 19% ± 0% | |
GABAergic neuron | 3 studies | 27% ± 8% | |
glutamatergic neuron | 3 studies | 32% ± 10% | |
transit amplifying cell | 3 studies | 24% ± 5% |
Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 3 studies | 22% ± 7% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 2801.97 | 1445 / 1445 | 100% | 68.60 | 183 / 183 |
liver | 100% | 2055.91 | 226 / 226 | 100% | 56.23 | 406 / 406 |
ovary | 100% | 2566.78 | 180 / 180 | 100% | 53.37 | 430 / 430 |
skin | 100% | 2916.18 | 1809 / 1809 | 100% | 75.69 | 472 / 472 |
uterus | 100% | 2382.16 | 170 / 170 | 100% | 130.64 | 459 / 459 |
brain | 100% | 2991.42 | 2640 / 2642 | 100% | 65.28 | 705 / 705 |
lung | 100% | 2464.68 | 578 / 578 | 100% | 86.47 | 1153 / 1155 |
thymus | 100% | 2219.97 | 652 / 653 | 100% | 86.49 | 604 / 605 |
bladder | 100% | 2416.57 | 21 / 21 | 100% | 84.97 | 502 / 504 |
intestine | 100% | 2655.65 | 966 / 966 | 99% | 65.06 | 524 / 527 |
prostate | 100% | 2477.91 | 245 / 245 | 99% | 62.85 | 499 / 502 |
kidney | 100% | 2087.72 | 89 / 89 | 99% | 48.43 | 895 / 901 |
stomach | 100% | 1850.39 | 359 / 359 | 99% | 57.51 | 284 / 286 |
breast | 100% | 3230.45 | 459 / 459 | 99% | 80.20 | 1110 / 1118 |
adrenal gland | 100% | 1907.92 | 258 / 258 | 98% | 43.26 | 225 / 230 |
pancreas | 94% | 809.28 | 307 / 328 | 99% | 68.25 | 177 / 178 |
adipose | 100% | 3194.04 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 2640.01 | 1335 / 1335 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 100% | 36.85 | 80 / 80 |
spleen | 100% | 2705.51 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 151.95 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 53.51 | 1 / 1 |
muscle | 100% | 2918.89 | 802 / 803 | 0% | 0 | 0 / 0 |
heart | 99% | 2389.71 | 856 / 861 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 97% | 254.09 | 28 / 29 |
peripheral blood | 95% | 1898.16 | 884 / 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_0006974 | Biological process | DNA damage response |
GO_0016446 | Biological process | somatic hypermutation of immunoglobulin genes |
GO_0097681 | Biological process | double-strand break repair via alternative nonhomologous end joining |
GO_0036297 | Biological process | interstrand cross-link repair |
GO_0006508 | Biological process | proteolysis |
GO_0106300 | Biological process | protein-DNA covalent cross-linking repair |
GO_0045830 | Biological process | positive regulation of isotype switching |
GO_0005657 | Cellular component | replication fork |
GO_0003906 | Molecular function | DNA-(apurinic or apyrimidinic site) endonuclease activity |
GO_0008233 | Molecular function | peptidase activity |
GO_0160129 | Molecular function | protein-DNA covalent cross-linking activity |
GO_0140431 | Molecular function | DNA-(abasic site) binding |
GO_0005515 | Molecular function | protein binding |
GO_0003697 | Molecular function | single-stranded DNA binding |
Gene name | HMCES |
Protein name | Abasic site processing protein HMCES (EC 4.-.-.-) (Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein) (ES cell-specific 5hmC-binding protein) (Peptidase HMCES) (EC 3.4.-.-) (SRAP domain-containing protein 1) Abasic site processing protein HMCES (ES cell-specific 5hmC-binding protein) (EC 3.4.-.-) (Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein) (Peptidase HMCES) (SRAP domain-containing protein 1) |
Synonyms | C3orf37 SRAPD1 DC12 |
Description | FUNCTION: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites . Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue . Promotes error-free repair by protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks . The HMCES DNA-protein cross-link is then either reversed or degraded . HMCES is able to catalyze the reversal of its thiazolidine cross-link and cycle between a cross-link and a non-cross-linked state depending on DNA context: mediates self-reversal of the thiazolidine cross-link in double stranded DNA, allowing APEX1 to initiate downstream repair of abasic sites . The HMCES DNA-protein cross-link can also be degraded by the SPRTN metalloprotease following unfolding by the BRIP1/FANCJ helicase . Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction . Plays a protective role during somatic hypermutation of immunoglobulin genes in B-cells: acts via its ability to form covalent cross-links with abasic sites, thereby limiting the accumulation of deletions in somatic hypermutation target regions . Also involved in class switch recombination (CSR) in B-cells independently of the formation of a DNA-protein cross-link: acts by binding and protecting ssDNA overhangs to promote DNA double-strand break repair through the microhomology-mediated alternative-end-joining (Alt-EJ) pathway (By similarity). Acts as a protease: mediates autocatalytic processing of its N-terminal methionine in order to expose the catalytic cysteine (By similarity). . FUNCTION: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue. The HMCES DNA-protein cross-link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks. Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction. . FUNCTION: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue. The HMCES DNA-protein cross-link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks. Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction. . FUNCTION: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue. The HMCES DNA-protein cross-link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks. Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction. . FUNCTION: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue. The HMCES DNA-protein cross-link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks. Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction. . FUNCTION: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue. The HMCES DNA-protein cross-link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks. Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction. . |
Accessions | E7EMP6 Q96FZ2 ENST00000509551.5 D6RAI0 ENST00000389735.7 ENST00000511665.1 D6R9T3 ENST00000509042.5 ENST00000510314.5 D6RAZ3 D6RGK7 ENST00000417226.6 ENST00000383463.9 ENST00000502878.6 |