ESCO1
gene geneOn this page
Also known as ESO1EFO1KIAA1911
Summary
ESCO1 (establishment of sister chromatid cohesion N-acetyltransferase 1, HGNC:24645) is a protein-coding gene on chromosome 18q11.2, encoding N-acetyltransferase ESCO1 (Q5FWF5). Acetyltransferase required for the establishment of sister chromatid cohesion.
Enables identical protein binding activity; protein-lysine-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin.
Source: NCBI Gene 114799 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 126 total — 1 pathogenic
- MANE Select transcript:
NM_052911
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24645 |
| Approved symbol | ESCO1 |
| Name | establishment of sister chromatid cohesion N-acetyltransferase 1 |
| Location | 18q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ESO1, EFO1, KIAA1911 |
| Ensembl gene | ENSG00000141446 |
| Ensembl biotype | protein_coding |
| OMIM | 609674 |
| Entrez | 114799 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000269214, ENST00000383276, ENST00000580101, ENST00000622333, ENST00000892204, ENST00000892205, ENST00000923541, ENST00000923542, ENST00000923543, ENST00000923544, ENST00000923545, ENST00000923546, ENST00000923547, ENST00000923548, ENST00000963036
RefSeq mRNA: 1 — MANE Select: NM_052911
NM_052911
CCDS: CCDS32800
Canonical transcript exons
ENST00000269214 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000948585 | 21567980 | 21568094 |
| ENSE00000948586 | 21564203 | 21564317 |
| ENSE00000948587 | 21560859 | 21560990 |
| ENSE00001037663 | 21566146 | 21566206 |
| ENSE00001324551 | 21573314 | 21575430 |
| ENSE00001349284 | 21575672 | 21575777 |
| ENSE00001349700 | 21584310 | 21584440 |
| ENSE00001663862 | 21529284 | 21530490 |
| ENSE00002702615 | 21600623 | 21600704 |
| ENSE00003567216 | 21539920 | 21540009 |
| ENSE00003598306 | 21536042 | 21536185 |
| ENSE00003671195 | 21532473 | 21532660 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 95.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9073 / max 380.5549, expressed in 1758 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171309 | 13.9862 | 1704 |
| 171310 | 1.9661 | 1103 |
| 171313 | 0.3038 | 109 |
| 171312 | 0.2679 | 119 |
| 171311 | 0.2325 | 78 |
| 171314 | 0.1509 | 61 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oviduct epithelium | UBERON:0004804 | 95.85 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.66 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.96 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.26 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.40 | gold quality |
| secondary oocyte | CL:0000655 | 90.74 | gold quality |
| tendon | UBERON:0000043 | 90.70 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.31 | gold quality |
| deltoid | UBERON:0001476 | 90.27 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.53 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.32 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.22 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.59 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.87 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.80 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.71 | gold quality |
| eye | UBERON:0000970 | 87.68 | gold quality |
| medial globus pallidus | UBERON:0002477 | 87.61 | gold quality |
| thymus | UBERON:0002370 | 87.60 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 87.47 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.41 | gold quality |
| testis | UBERON:0000473 | 87.23 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.19 | gold quality |
| oocyte | CL:0000023 | 86.90 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.33 | gold quality |
| right testis | UBERON:0004534 | 86.31 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 86.27 | silver quality |
| left testis | UBERON:0004533 | 86.25 | gold quality |
| endothelial cell | CL:0000115 | 86.18 | gold quality |
| bone marrow | UBERON:0002371 | 86.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting ESCO1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
Literature-anchored findings (GeneRIF, showing 14)
- identification of the first full-length human ortholog of yeast Ctf7p and characterization of its enzymatic activity, localization and novel genetic composition (PMID:14576321)
- EFO1 and EFO2 are targeted to different chromosome structures to help establish or maintain sister-chromatid cohesion (PMID:15958495)
- This study identified a molecular target for the acetyltransferase Eco1 and revealed that Smc3 acetylation is a conserved mechanism in regulating sister chromatid cohesion. (PMID:18614053)
- Variants in ESCO1 is associated with predisposition for TMPRSS2-ERG fusion in prostate cancer. (PMID:19861517)
- this is the first evidence that Eco1 represses transcription by interacting with histone demethylase, LSD1 to convert chromatin to inactive state. (PMID:20331966)
- This is the first report of somatic mutations within ESCO1 and CHTF18 in endometrial tumors and of MRE11A mutations in microsatellite-stable endometrial tumors. (PMID:23755103)
- By interacting with a unique domain of Esco1, Pds5 recruits Esco1 to chromatin-bound cohesin complexes to form cohesion. (PMID:26051894)
- Data show that acetyltransferase Esco1 colocalizes with cohesin throughout the cell cycle and down-regulates expression of neighboring genes. (PMID:26305936)
- our findings indicated that ESCO1 may play an important role in human bladder cancer, and ESCO1 might serve as a novel target and prognosis factor for human bladder cancer. (PMID:26547586)
- these studies reveal the molecular basis for SMC3 acetylation by ESCO1 and have broader implications for understanding the structure/function of non-histone acetyltransferases. (PMID:27803161)
- Data indicate that Esco1 and Esco2 contribute to distinct and separable activities of cohesin in vertebrate cells. (PMID:28847955)
- DDX11, ESCO1 and ESCO2 control different fractions of cohesin that are spatially and mechanistically separated. (PMID:31935221)
- ESCO1 and CTCF enable formation of long chromatin loops by protecting cohesin(STAG1) from WAPL. (PMID:32065581)
- Alternative catalytic residues in the active site of Esco acetyltransferases. (PMID:32555289)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | esco1 | ENSDARG00000077057 |
| mus_musculus | Esco1 | ENSMUSG00000024293 |
| rattus_norvegicus | Esco1 | ENSRNOG00000014031 |
Paralogs (5): POLI (ENSG00000101751), POLK (ENSG00000122008), REV1 (ENSG00000135945), POLH (ENSG00000170734), ESCO2 (ENSG00000171320)
Protein
Protein identifiers
N-acetyltransferase ESCO1 — Q5FWF5 (reviewed: Q5FWF5)
Alternative names: CTF7 homolog 1, Establishment factor-like protein 1, Establishment of cohesion 1 homolog 1
All UniProt accessions (2): A0A0C4DH04, Q5FWF5
UniProt curated annotations — full annotation on UniProt →
Function. Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3.
Subunit / interactions. The subunit structure is controversial. Monomer. Homodimer.
Subcellular location. Nucleus. Chromosome.
Tissue specificity. Widely expressed. Expressed in heart, brain, liver, placenta, lung, kidney and pancreas. Highly expressed in muscle.
Post-translational modifications. Phosphorylated during mitosis, when associated with chromosomes.
Domain organisation. The N-terminal region seems to be responsible for association with chromosomes, thus excluding any involvement of the Zn finger in this process.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the acetyltransferase family. ECO subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5FWF5-1 | 1 | yes |
| Q5FWF5-2 | 2 |
RefSeq proteins (1): NP_443143* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028005 | AcTrfase_ESCO_Znf_dom | Domain |
| IPR028009 | ESCO_Acetyltransf_dom | Domain |
Pfam: PF13878, PF13880
Catalyzed reactions (Rhea), 1 shown:
- L-lysyl-[protein] + acetyl-CoA = N(6)-acetyl-L-lysyl-[protein] + CoA + H(+) (RHEA:45948)
UniProt features (70 total): mutagenesis site 22, compositionally biased region 11, strand 10, helix 6, region of interest 5, binding site 3, sequence conflict 3, modified residue 2, splice variant 2, sequence variant 2, chain 1, zinc finger region 1, cross-link 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4MXE | X-RAY DIFFRACTION | 2.6 |
| 5T53 | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5FWF5-F1 | 52.74 | 0.21 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 772–774; 780–785; 812–814
Post-translational modifications (3): 200, 412, 332
Mutagenesis-validated functional residues (22):
| Position | Phenotype |
|---|---|
| 622 | no effect on association with chromosomes. |
| 640 | strongly decreased enzyme activity. |
| 643 | strongly decreased enzyme activity. |
| 644 | strongly decreased enzyme activity. |
| 690 | strongly decreased enzyme activity. |
| 725 | strongly decreased enzyme activity. |
| 732 | strongly decreased enzyme activity. |
| 735 | strongly decreased enzyme activity. |
| 736 | strongly decreased enzyme activity. |
| 756 | strongly decreased enzyme activity. |
| 768 | loss of autoacetylation. |
| 770 | strongly decreased enzyme activity. |
| 771 | strongly decreased enzyme activity. |
| 773 | decreased thermal stability. strongly decreased enzyme activity. |
| 779–780 | significant reduction in autoacetylation. |
| 780 | nearly abolishes autoacetylation. |
| 782–783 | significant reduction in autoacetylation. |
| 786 | decreased thermal stability. strongly decreased enzyme activity. |
| 789 | reduced autoacetylation. |
| 803 | strongly reduced autoacetylation. |
| 809 | strongly decreased enzyme activity. |
| 815 | strongly decreased enzyme activity. no effect on thermal stability. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2468052 | Establishment of Sister Chromatid Cohesion |
MSigDB gene sets: 132 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, MYOGENIN_Q6, GCAAGGA_MIR502, ATGCAGT_MIR217, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_PROTEIN_ACETYLATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_SISTER_CHROMATID_COHESION, CAATGCA_MIR33, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, CUI_TCF21_TARGETS_2_DN, GOBP_PROTEIN_ACYLATION
GO Biological Process (5): regulation of DNA replication (GO:0006275), sister chromatid cohesion (GO:0007062), mitotic sister chromatid cohesion (GO:0007064), peptidyl-lysine acetylation (GO:0018394), post-translational protein acetylation (GO:0034421)
GO Molecular Function (8): N-acetyltransferase activity (GO:0008080), zinc ion binding (GO:0008270), acetyltransferase activity (GO:0016407), identical protein binding (GO:0042802), protein-lysine-acetyltransferase activity (GO:0061733), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), metal ion binding (GO:0046872)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| S Phase | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein acetylation | 2 |
| cellular anatomical structure | 2 |
| DNA replication | 1 |
| regulation of DNA metabolic process | 1 |
| cell cycle process | 1 |
| chromosome organization | 1 |
| sister chromatid cohesion | 1 |
| peptidyl-lysine modification | 1 |
| post-translational protein modification | 1 |
| acetyltransferase activity | 1 |
| transition metal ion binding | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| protein binding | 1 |
| protein N-acetyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2376 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ESCO1 | PDS5A | Q29RF7 | 981 |
| ESCO1 | SMC3 | Q9UQE7 | 976 |
| ESCO1 | WAPL | Q7Z5K2 | 967 |
| ESCO1 | CHTF18 | Q8WVB6 | 947 |
| ESCO1 | STAG1 | Q8WVM7 | 895 |
| ESCO1 | RAD21 | O60216 | 886 |
| ESCO1 | CHTF8 | P0CG13 | 878 |
| ESCO1 | GLYATL1 | Q969I3 | 872 |
| ESCO1 | MAU2 | Q9Y6X3 | 868 |
| ESCO1 | DSCC1 | Q9BVC3 | 858 |
| ESCO1 | NAT10 | Q9H0A0 | 850 |
| ESCO1 | ESPL1 | Q14674 | 850 |
| ESCO1 | RFC2 | P32846 | 804 |
| ESCO1 | HGSNAT | Q68CP4 | 803 |
| ESCO1 | NAA10 | P41227 | 794 |
| ESCO1 | NIPBL | Q6KC79 | 794 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ESCO1 | PDIA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Esco1 | ESCO1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CALM1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM2 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (44): ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-MS), ESCO1 (Affinity Capture-RNA), ESCO1 (Affinity Capture-RNA)
ESM2 similar proteins: A0A1L8GR68, A2CG63, A2VE56, D3ZHS6, E6ZGB4, F7AQ22, O75376, O88974, P0C6S7, P57768, P57769, Q15047, Q2YDJ8, Q2YDW7, Q4KKX4, Q4LE39, Q52L14, Q5F3F2, Q5F3N6, Q5FWF5, Q5R6Q7, Q5VVJ2, Q60974, Q66JB6, Q68FE8, Q69Z61, Q69Z66, Q69Z69, Q6N043, Q6NXK2, Q7Z6G8, Q86YI8, Q8BIZ1, Q8C080, Q8K2W6, Q8QFX1, Q92560, Q96N64, Q98925, Q99PU7
Diamond homologs: A1JNY3, A1RMZ5, A1S8M3, A3D147, A3N148, A4TPK8, A5F5Y1, A6WRW5, A7FLI9, A7MEN4, A9L0T3, B0BPX9, B8F542, C3LQ59, O42917, Q086K1, Q12Q05, Q1C4D9, Q1CLD4, Q487H6, Q56NI9, Q5FWF5, Q5SPR8, Q65TG8, Q66DZ7, Q69Z69, Q6C668, Q6D1H8, Q7MID6, Q87MB4, Q8CIB9, Q8DBI7, Q8ZBZ9, Q9JJN0, Q9KPS5, Q9Y253, A7UL74, Q9VS50
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDC7 | down-regulates | ESCO1 | phosphorylation |
| CDK1 | down-regulates | ESCO1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
126 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 108 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2445432 | GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1 | Pathogenic |
SpliceAI
2482 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:21532472:C:G | donor_loss | 1.0000 |
| 18:21532656:TAGCC:T | acceptor_gain | 1.0000 |
| 18:21532657:AGCC:A | acceptor_gain | 1.0000 |
| 18:21532658:GCC:G | acceptor_gain | 1.0000 |
| 18:21532659:CC:C | acceptor_gain | 1.0000 |
| 18:21532659:CCC:C | acceptor_gain | 1.0000 |
| 18:21532660:CC:C | acceptor_gain | 1.0000 |
| 18:21532660:CCTAC:C | acceptor_loss | 1.0000 |
| 18:21532661:C:CC | acceptor_gain | 1.0000 |
| 18:21532661:C:CG | acceptor_loss | 1.0000 |
| 18:21532671:C:CT | acceptor_gain | 1.0000 |
| 18:21532672:A:T | acceptor_gain | 1.0000 |
| 18:21532676:A:AC | acceptor_gain | 1.0000 |
| 18:21532676:A:C | acceptor_gain | 1.0000 |
| 18:21536036:ACTT:A | donor_loss | 1.0000 |
| 18:21536037:CTTA:C | donor_loss | 1.0000 |
| 18:21536038:TTA:T | donor_loss | 1.0000 |
| 18:21536039:TACCC:T | donor_loss | 1.0000 |
| 18:21536040:A:AC | donor_gain | 1.0000 |
| 18:21536040:A:AG | donor_loss | 1.0000 |
| 18:21536040:AC:A | donor_gain | 1.0000 |
| 18:21536041:C:CC | donor_gain | 1.0000 |
| 18:21536041:CC:C | donor_gain | 1.0000 |
| 18:21536041:CCCA:C | donor_gain | 1.0000 |
| 18:21538651:T:A | donor_gain | 1.0000 |
| 18:21540635:A:AC | donor_gain | 1.0000 |
| 18:21540636:C:CC | donor_gain | 1.0000 |
| 18:21540639:A:AC | donor_gain | 1.0000 |
| 18:21540640:A:C | donor_gain | 1.0000 |
| 18:21560852:CACTT:C | donor_loss | 1.0000 |
AlphaMissense
5594 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:21530382:A:C | F828L | 1.000 |
| 18:21530382:A:T | F828L | 1.000 |
| 18:21530383:A:G | F828S | 1.000 |
| 18:21530384:A:G | F828L | 1.000 |
| 18:21530410:G:T | A819E | 1.000 |
| 18:21530413:A:G | F818S | 1.000 |
| 18:21530422:C:A | G815V | 1.000 |
| 18:21530422:C:T | G815E | 1.000 |
| 18:21530423:C:G | G815R | 1.000 |
| 18:21530423:C:T | G815R | 1.000 |
| 18:21530434:G:T | P811H | 1.000 |
| 18:21530443:A:G | F808S | 1.000 |
| 18:21530446:G:T | A807D | 1.000 |
| 18:21532476:A:G | L791P | 1.000 |
| 18:21532497:G:T | A784D | 1.000 |
| 18:21532513:G:T | R779S | 1.000 |
| 18:21532529:C:A | W773C | 1.000 |
| 18:21532529:C:G | W773C | 1.000 |
| 18:21532531:A:G | W773R | 1.000 |
| 18:21532531:A:T | W773R | 1.000 |
| 18:21532533:A:T | I772K | 1.000 |
| 18:21532536:C:G | R771P | 1.000 |
| 18:21532545:C:T | G768E | 1.000 |
| 18:21532546:C:A | G768W | 1.000 |
| 18:21532546:C:G | G768R | 1.000 |
| 18:21532546:C:T | G768R | 1.000 |
| 18:21532547:G:C | C767W | 1.000 |
| 18:21532549:A:G | C767R | 1.000 |
| 18:21532582:A:G | W756R | 1.000 |
| 18:21532582:A:T | W756R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000034781 (18:21575110 G>C,T), RS1000108002 (18:21575421 G>A), RS1000148418 (18:21541355 C>G,T), RS1000197900 (18:21561331 T>C), RS1000226234 (18:21529631 T>C), RS1000262727 (18:21567705 C>T), RS1000270737 (18:21575370 C>G), RS1000315671 (18:21581554 T>C), RS1000466727 (18:21569331 C>T), RS1000515575 (18:21593462 C>A,T), RS1000550390 (18:21545003 G>T), RS1000560980 (18:21600320 C>G), RS1000610653 (18:21544704 A>C,T), RS1000620482 (18:21595928 C>T), RS1000633996 (18:21529283 C>T)
Disease associations
OMIM: gene MIM:609674 | disease phenotypes: MIM:601076
GenCC curated gene-disease
Mondo (1): Mayer-Rokitansky-Küster-Hauser syndrome type 2 (MONDO:0010989)
Orphanet (2): Mayer-Rokitansky-Küster-Hauser syndrome type 2 (Orphanet:2578), Mayer-Rokitansky-Küster-Hauser syndrome (Orphanet:3109)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_44 | Brain morphology (MOSTest) | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| chromium hexavalent ion | increases expression, increases abundance | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Clorgyline | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1WF | HAP1 ESCO1 (-) 1 | Cancer cell line | Male |
| CVCL_E1WG | HAP1 ESCO1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Mayer-Rokitansky-Küster-Hauser syndrome type 2