DCLRE1A
gene geneOn this page
Also known as SNM1PSO2KIAA0086hSNM1
Summary
DCLRE1A (DNA cross-link repair 1A, HGNC:17660) is a protein-coding gene on chromosome 10q25.3, encoding DNA cross-link repair 1A protein (Q6PJP8). May be required for DNA interstrand cross-link repair.
This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9937 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 159 total
- Druggable target: yes
- MANE Select transcript:
NM_014881
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17660 |
| Approved symbol | DCLRE1A |
| Name | DNA cross-link repair 1A |
| Location | 10q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SNM1, PSO2, KIAA0086, hSNM1 |
| Ensembl gene | ENSG00000198924 |
| Ensembl biotype | protein_coding |
| OMIM | 609682 |
| Entrez | 9937 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000361384, ENST00000369305, ENST00000476112, ENST00000852021
RefSeq mRNA: 2 — MANE Select: NM_014881
NM_001271816, NM_014881
CCDS: CCDS7584
Canonical transcript exons
ENST00000361384 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000986810 | 113848980 | 113850644 |
| ENSE00000986812 | 113847202 | 113847335 |
| ENSE00000986813 | 113845685 | 113845803 |
| ENSE00000986814 | 113844104 | 113844244 |
| ENSE00000986815 | 113842343 | 113842488 |
| ENSE00000986816 | 113841406 | 113841560 |
| ENSE00000986817 | 113837062 | 113837203 |
| ENSE00001123928 | 113852723 | 113854082 |
| ENSE00003751580 | 113834725 | 113835312 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 99.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.1754 / max 84.5843, expressed in 1015 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111462 | 2.0405 | 986 |
| 111461 | 0.1349 | 51 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.12 | gold quality |
| oocyte | CL:0000023 | 97.98 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.33 | gold quality |
| ventricular zone | UBERON:0003053 | 83.29 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.20 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 82.11 | silver quality |
| hair follicle | UBERON:0002073 | 81.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.19 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 80.19 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 79.41 | silver quality |
| cortical plate | UBERON:0005343 | 79.31 | gold quality |
| embryo | UBERON:0000922 | 78.07 | gold quality |
| pancreas | UBERON:0001264 | 76.72 | gold quality |
| mononuclear cell | CL:0000842 | 76.53 | gold quality |
| monocyte | CL:0000576 | 76.52 | gold quality |
| leukocyte | CL:0000738 | 76.36 | gold quality |
| rectum | UBERON:0001052 | 76.26 | gold quality |
| body of pancreas | UBERON:0001150 | 76.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.25 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 74.87 | gold quality |
| right adrenal gland | UBERON:0001233 | 74.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 73.88 | gold quality |
| right lobe of liver | UBERON:0001114 | 73.76 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 73.75 | gold quality |
| adrenal tissue | UBERON:0018303 | 73.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 73.62 | gold quality |
| tendon | UBERON:0000043 | 73.48 | gold quality |
| gastrocnemius | UBERON:0001388 | 73.22 | gold quality |
| bone marrow cell | CL:0002092 | 73.10 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 49.03 |
| E-ANND-3 | no | 2.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting DCLRE1A, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-642A-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-642B-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-500A-5P | 98.76 | 69.13 | 1241 |
| HSA-MIR-606 | 98.72 | 67.34 | 960 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-3977 | 98.00 | 68.17 | 1500 |
| HSA-MIR-362-5P | 95.87 | 66.02 | 554 |
| HSA-MIR-500B-5P | 95.87 | 66.04 | 557 |
| HSA-MIR-598-3P | 89.25 | 67.61 | 112 |
Literature-anchored findings (GeneRIF, showing 15)
- Results suggest that 53BP1 and Snm1 may cooperate in the cellular response to genotoxic damage. (PMID:12446782)
- Snm1 and 53BP1 are components of a mitotic stress checkpoint that negatively targets the APC prior to chromosome condensation (PMID:15542852)
- The SNM1 enzyme utilizes either DNA or RNA substrates, requires a 5’-phosphate moiety, shows very little activity on double-strand substrates, and functions at a size consistent with a monomer. (PMID:17804464)
- Human SNM1A suppresses the DNA repair defects of yeast pso2 mutants. (PMID:18006388)
- hSNM1 appears to represent a second pathway for genome stability (PMID:18180189)
- These findings suggest that SNM1A acts with ATM to promote the G1 cell cycle checkpoint. (PMID:18848520)
- RAD18-dependent recruitment of SNM1A to DNA repair complexes by a ubiquitin-binding zinc finger (PMID:20385554)
- collaboration between hSNM1A and XPF-ERCC1 is necessary to initiate interstrand cross-link repair in replicating human cells (PMID:21896658)
- differences in the substrate selectivities of SNM1A and SNM1B are likely to be relevant to their in vivo roles (PMID:22692201)
- Different charge distributions along the DNA binding groove may account for the drastic difference in processivity and DNA digestion efficiency, including that of damaged substrates, between SNM1A and SNM1B. (PMID:26582912)
- Strikingly, the addition of the single-stranded DNA (ssDNA)-binding replication protein A (RPA) selectively restores XPF-ERCC1 endonuclease activity on this structure. The 5’-3’ exonuclease SNM1A can load from the XPF-ERCC1-RPA-induced incisions and digest past the crosslink to quantitatively complete the unhooking reaction. (PMID:28607004)
- Structure-specific endonuclease activity of SNM1A enables processing of a DNA interstrand crosslink. (PMID:30165656)
- The SNM1A DNA repair nuclease. (PMID:32866775)
- Structural and mechanistic insights into the Artemis endonuclease and strategies for its inhibition. (PMID:34387696)
- SNM1A is crucial for efficient repair of complex DNA breaks in human cells. (PMID:38918391)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dclre1a | ENSDARG00000091768 |
| mus_musculus | Dclre1a | ENSMUSG00000025077 |
| rattus_norvegicus | Dclre1a | ENSRNOG00000026204 |
| drosophila_melanogaster | Snm1 | FBGN0037338 |
Paralogs (2): DCLRE1B (ENSG00000118655), DCLRE1C (ENSG00000152457)
Protein
Protein identifiers
DNA cross-link repair 1A protein — Q6PJP8 (reviewed: Q6PJP8)
Alternative names: Beta-lactamase DCLRE1A, SNM1 homolog A
All UniProt accessions (1): Q6PJP8
UniProt curated annotations — full annotation on UniProt →
Function. May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons. Possesses beta-lactamase activity, catalyzing the hydrolysis of penicillin G and nitrocefin. Exhibits no activity towards other beta-lactam antibiotic classes including cephalosporins (cefotaxime) and carbapenems (imipenem).
Subunit / interactions. Binds constitutively to TP53BP1. Binds CDC27, which is itself a component of the anaphase promoting complex (APC). Binds PIAS1.
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain, heart, kidney, liver, pancreas, placenta and skeletal muscle.
Activity regulation. Beta-lactamase activity is inhibited by sulbactam.
Induction. During mitosis. The mRNA encoding this protein contains an internal ribosome entry site (IRES) in its 5’-UTR. This 5’-UTR generally suppresses translation while specifically promoting expression during mitosis, when cap-dependent translation may be impaired.
Similarity. Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
RefSeq proteins (2): NP_001258745, NP_055696* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006642 | Rad18_UBZ4 | Domain |
| IPR011084 | DRMBL | Domain |
| IPR036866 | RibonucZ/Hydroxyglut_hydro | Homologous_superfamily |
Pfam: PF07522
Catalyzed reactions (Rhea), 1 shown:
- a beta-lactam + H2O = a substituted beta-amino acid (RHEA:20401)
UniProt features (75 total): strand 19, helix 16, cross-link 14, sequence variant 7, region of interest 5, binding site 4, turn 4, mutagenesis site 2, chain 1, zinc finger region 1, modified residue 1, compositionally biased region 1
Structure
Experimental structures (PDB)
318 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5Q22 | X-RAY DIFFRACTION | 1.18 |
| 5Q7C | X-RAY DIFFRACTION | 1.2 |
| 5Q82 | X-RAY DIFFRACTION | 1.2 |
| 5Q74 | X-RAY DIFFRACTION | 1.21 |
| 5Q8D | X-RAY DIFFRACTION | 1.23 |
| 5Q8X | X-RAY DIFFRACTION | 1.23 |
| 5Q1O | X-RAY DIFFRACTION | 1.25 |
| 5Q78 | X-RAY DIFFRACTION | 1.25 |
| 5Q7B | X-RAY DIFFRACTION | 1.25 |
| 5Q7I | X-RAY DIFFRACTION | 1.26 |
| 5Q7M | X-RAY DIFFRACTION | 1.26 |
| 5Q7W | X-RAY DIFFRACTION | 1.27 |
| 5Q2M | X-RAY DIFFRACTION | 1.28 |
| 5Q76 | X-RAY DIFFRACTION | 1.28 |
| 5Q83 | X-RAY DIFFRACTION | 1.28 |
| 5Q9F | X-RAY DIFFRACTION | 1.28 |
| 5Q3G | X-RAY DIFFRACTION | 1.29 |
| 5Q6V | X-RAY DIFFRACTION | 1.29 |
| 5Q2J | X-RAY DIFFRACTION | 1.3 |
| 5Q54 | X-RAY DIFFRACTION | 1.3 |
| 5Q9M | X-RAY DIFFRACTION | 1.3 |
| 5Q70 | X-RAY DIFFRACTION | 1.31 |
| 5Q72 | X-RAY DIFFRACTION | 1.31 |
| 5Q7S | X-RAY DIFFRACTION | 1.31 |
| 5Q86 | X-RAY DIFFRACTION | 1.31 |
| 5Q99 | X-RAY DIFFRACTION | 1.31 |
| 5Q23 | X-RAY DIFFRACTION | 1.32 |
| 5Q7D | X-RAY DIFFRACTION | 1.32 |
| 5Q7O | X-RAY DIFFRACTION | 1.32 |
| 5Q8V | X-RAY DIFFRACTION | 1.32 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PJP8-F1 | 58.30 | 0.34 |
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 (4): 140; 144; 122; 125
Post-translational modifications (15): 590, 202, 236, 269, 353, 361, 429, 488, 508, 517, 533, 536, 668, 670, 674
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 838 | impaired nuclear focus formation, reduced interaction with pias and increased sensitivity to cisplatin. |
| 994 | impaired nuclear focus formation, reduced interaction with pias and increased sensitivity to cisplatin. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6783310 | Fanconi Anemia Pathway |
MSigDB gene sets: 167 (showing top):
E2F_Q4_01, FISCHER_G1_S_CELL_CYCLE, GOMF_NUCLEASE_ACTIVITY, KAUFFMANN_DNA_REPAIR_GENES, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, WTGAAAT_UNKNOWN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, SCHLOSSER_SERUM_RESPONSE_DN, FISCHER_DREAM_TARGETS, REACTOME_FANCONI_ANEMIA_PATHWAY, REACTOME_DNA_REPAIR, GOMF_EXONUCLEASE_ACTIVITY, E2F_Q6_01
GO Biological Process (5): double-strand break repair via nonhomologous end joining (GO:0006303), interstrand cross-link repair (GO:0036297), cell division (GO:0051301), DNA repair (GO:0006281), DNA damage response (GO:0006974)
GO Molecular Function (7): damaged DNA binding (GO:0003684), zinc ion binding (GO:0008270), beta-lactamase activity (GO:0008800), 5’-3’ DNA exonuclease activity (GO:0035312), DNA binding (GO:0003677), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (3): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| DNA Repair | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| double-strand break repair | 1 |
| DNA repair | 1 |
| cellular process | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| DNA binding | 1 |
| transition metal ion binding | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides | 1 |
| 5’-3’ exonuclease activity | 1 |
| DNA exonuclease activity, producing 5’-phosphomonoesters | 1 |
| nucleic acid binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
1469 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCLRE1A | CPSF3 | Q9UKF6 | 940 |
| DCLRE1A | CPSF2 | Q9P2I0 | 900 |
| DCLRE1A | ELAC2 | Q9BQ52 | 822 |
| DCLRE1A | MRE11 | P49959 | 737 |
| DCLRE1A | TFAP4 | Q01664 | 718 |
| DCLRE1A | FANCD2 | Q9BXW9 | 701 |
| DCLRE1A | SLX4 | Q8IY92 | 699 |
| DCLRE1A | FANCI | Q9NVI1 | 691 |
| DCLRE1A | MUS81 | Q96NY9 | 687 |
| DCLRE1A | RAD51 | Q06609 | 687 |
| DCLRE1A | SLX1A | Q9BQ83 | 684 |
| DCLRE1A | FANCM | Q8IYD8 | 674 |
| DCLRE1A | RAD18 | Q9NS91 | 666 |
| DCLRE1A | REV3L | O60673 | 659 |
| DCLRE1A | ERCC1 | P07992 | 641 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | FAM83G | psi-mi:“MI:0914”(association) | 0.710 |
| PCNA | RFC4 | psi-mi:“MI:0914”(association) | 0.530 |
| DCLRE1A | KTN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DCLRE1A | U2SURP | psi-mi:“MI:0915”(physical association) | 0.400 |
| DCLRE1A | KPNA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DCLRE1A | ADRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BRCA1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (32): DCLRE1A (Affinity Capture-MS), DCLRE1A (Affinity Capture-Western), DCLRE1A (Proximity Label-MS), TP53BP1 (Affinity Capture-Western), DCLRE1A (Affinity Capture-MS), DCLRE1A (Affinity Capture-MS), DCLRE1A (Proximity Label-MS), KTN1 (Proximity Label-MS), DCLRE1A (Proximity Label-MS), DCLRE1A (Two-hybrid), DCLRE1A (Proximity Label-MS), KPNA1 (Affinity Capture-MS), DCLRE1A (Affinity Capture-MS), DCLRE1A (Proximity Label-MS), DCLRE1A (Proximity Label-MS)
ESM2 similar proteins: A0JM98, A1L1H3, B7ZS37, D2H3M0, D3ZF42, E1BPH3, E2QTD3, F6YVB9, O75113, O88866, P62287, P62288, Q01804, Q13129, Q1L981, Q2T9I9, Q5H9M0, Q5HZN1, Q5QJC4, Q5SW75, Q5T5J6, Q5VCS6, Q5XIS7, Q5ZIX8, Q5ZKI7, Q5ZLE9, Q61194, Q63679, Q6A037, Q6DJS0, Q6GQJ2, Q6IE81, Q6IE82, Q6IFT4, Q6IVY4, Q6NRK3, Q6PCM1, Q6PJP8, Q6PUR7, Q6YI93
Diamond homologs: B0V2S2, D2H8V8, F4HPZ9, Q38961, Q4KLY6, Q55470, Q5QJC3, Q5QJC4, Q5R6Z9, Q5XIX3, Q6PJP8, Q86KS1, Q8C7W7, Q8K4J0, Q96SD1, Q9H816, Q9JIC3, P30620, Q5QJC2, Q5RGE5, A1RTK4, A1RY72, A2BJX6, A3DP49, A3MS62, A4WH24, A4YD25, A8AB20, A8MDU6, B1L3V2, B1YA52, C0QSL7, C3MJ14, C3MYD2, C3MZR1, C3N834, C3NF77, C4KIZ2, D2CJS7, O67398
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 127 |
| Likely benign | 16 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1669 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:113835310:TTC:T | acceptor_gain | 1.0000 |
| 10:113835311:TC:T | acceptor_gain | 1.0000 |
| 10:113835311:TCC:T | acceptor_loss | 1.0000 |
| 10:113835312:CC:C | acceptor_gain | 1.0000 |
| 10:113835313:C:CA | acceptor_loss | 1.0000 |
| 10:113835313:C:CC | acceptor_gain | 1.0000 |
| 10:113837078:T:A | donor_gain | 1.0000 |
| 10:113841401:CTTA:C | donor_loss | 1.0000 |
| 10:113841402:TTACC:T | donor_loss | 1.0000 |
| 10:113841403:TACC:T | donor_loss | 1.0000 |
| 10:113841404:ACC:A | donor_loss | 1.0000 |
| 10:113841405:C:CA | donor_loss | 1.0000 |
| 10:113841557:ATGG:A | acceptor_gain | 1.0000 |
| 10:113841558:TGG:T | acceptor_gain | 1.0000 |
| 10:113841561:C:CC | acceptor_gain | 1.0000 |
| 10:113842335:CAA:C | donor_gain | 1.0000 |
| 10:113842338:CTCA:C | donor_loss | 1.0000 |
| 10:113842339:TCACC:T | donor_loss | 1.0000 |
| 10:113842340:C:CA | donor_loss | 1.0000 |
| 10:113842341:ACCT:A | donor_loss | 1.0000 |
| 10:113842510:CTTA:C | acceptor_gain | 1.0000 |
| 10:113844204:C:CT | acceptor_gain | 1.0000 |
| 10:113844206:T:TC | acceptor_gain | 1.0000 |
| 10:113845676:AATAC:A | donor_loss | 1.0000 |
| 10:113845677:ATACT:A | donor_loss | 1.0000 |
| 10:113845678:TACTT:T | donor_loss | 1.0000 |
| 10:113845679:AC:A | donor_loss | 1.0000 |
| 10:113845680:CTTAC:C | donor_loss | 1.0000 |
| 10:113845681:TT:T | donor_loss | 1.0000 |
| 10:113845682:TAC:T | donor_loss | 1.0000 |
AlphaMissense
6872 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:113835175:A:G | W1034R | 0.997 |
| 10:113835175:A:T | W1034R | 0.997 |
| 10:113837148:A:G | F959S | 0.997 |
| 10:113844110:T:A | D838V | 0.997 |
| 10:113835290:G:C | S995R | 0.996 |
| 10:113835290:G:T | S995R | 0.996 |
| 10:113835292:T:G | S995R | 0.996 |
| 10:113842384:A:T | V875D | 0.996 |
| 10:113847320:A:T | V714D | 0.996 |
| 10:113835264:A:T | V1004D | 0.995 |
| 10:113837134:A:G | W964R | 0.995 |
| 10:113837134:A:T | W964R | 0.995 |
| 10:113842387:A:T | V874D | 0.995 |
| 10:113844110:T:G | D838A | 0.995 |
| 10:113837151:G:T | A958E | 0.994 |
| 10:113842360:T:A | K883I | 0.994 |
| 10:113842423:G:T | A862D | 0.993 |
| 10:113844111:C:G | D838H | 0.993 |
| 10:113847254:T:A | D736V | 0.993 |
| 10:113835173:C:A | W1034C | 0.992 |
| 10:113835173:C:G | W1034C | 0.992 |
| 10:113835255:A:G | L1007P | 0.992 |
| 10:113835299:A:C | S992R | 0.992 |
| 10:113835299:A:T | S992R | 0.992 |
| 10:113835301:T:G | S992R | 0.992 |
| 10:113842382:A:G | C876R | 0.992 |
| 10:113844109:A:C | D838E | 0.992 |
| 10:113844109:A:T | D838E | 0.992 |
| 10:113844119:A:G | L835P | 0.992 |
| 10:113844243:A:G | C794R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000090872 (10:113842887 A>G), RS1000276103 (10:113855076 G>A,T), RS1000546354 (10:113842414 G>A), RS1000567825 (10:113854625 G>A,C,T), RS1000579908 (10:113847616 A>G), RS1000686222 (10:113835806 A>G), RS1000869165 (10:113834403 G>A,C), RS1000954082 (10:113835577 G>C), RS1001147601 (10:113840653 T>C), RS1001209201 (10:113854252 A>C), RS1001308602 (10:113841868 T>A,C), RS1001352996 (10:113855467 T>G), RS1001365331 (10:113838583 C>A), RS1001866166 (10:113843022 G>GTA), RS1001880038 (10:113854170 C>T)
Disease associations
OMIM: gene MIM:609682 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105903 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | affects sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| CPG-oligonucleotide | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Naled | affects expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4027951 | Binding | Inhibition of human DCLRE1A | In Silico Fragment-Based Design Identifies Subfamily B1 Metallo-β-lactamase Inhibitors. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1VC | HAP1 DCLRE1A (-) 1 | Cancer cell line | Male |
| CVCL_E1VD | HAP1 DCLRE1A (-) 2 | Cancer cell line | Male |
| CVCL_E1VE | HAP1 DCLRE1A (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.