NUDT7
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Summary
NUDT7 (nudix hydrolase 7, HGNC:8054) is a protein-coding gene on chromosome 16q23.1, encoding Peroxisomal coenzyme A diphosphatase NUDT7 (P0C024). Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4’-phosphopantetheine and adenosine 3’,5’-bisphosphate.
The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.
Source: NCBI Gene 283927 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 59 total
- MANE Select transcript:
NM_001105663
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8054 |
| Approved symbol | NUDT7 |
| Name | nudix hydrolase 7 |
| Location | 16q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140876 |
| Ensembl biotype | protein_coding |
| OMIM | 609231 |
| Entrez | 283927 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 12 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000268533, ENST00000437314, ENST00000563839, ENST00000564031, ENST00000564085, ENST00000568787, ENST00000613075, ENST00000904198, ENST00000904199, ENST00000904200, ENST00000904201, ENST00000931007, ENST00000931008
RefSeq mRNA: 4 — MANE Select: NM_001105663
NM_001105663, NM_001243657, NM_001243660, NM_001243661
CCDS: CCDS42195, CCDS58479, CCDS58480, CCDS73916
Canonical transcript exons
ENST00000268533 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945476 | 77735828 | 77735986 |
| ENSE00001302871 | 77725431 | 77725584 |
| ENSE00001478137 | 77722514 | 77722617 |
| ENSE00002626155 | 77741582 | 77742260 |
Expression profiles
Bgee: expression breadth ubiquitous, 236 present calls, max score 93.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8913 / max 116.4647, expressed in 1540 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155071 | 5.4131 | 1501 |
| 155070 | 0.4782 | 263 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 93.93 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.82 | gold quality |
| secondary oocyte | CL:0000655 | 93.53 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.51 | gold quality |
| oocyte | CL:0000023 | 92.34 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.09 | gold quality |
| apex of heart | UBERON:0002098 | 90.98 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.61 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.56 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.39 | gold quality |
| liver | UBERON:0002107 | 90.20 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.16 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.43 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.27 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.19 | gold quality |
| heart | UBERON:0000948 | 88.85 | gold quality |
| cardiac atrium | UBERON:0002081 | 88.77 | gold quality |
| myocardium | UBERON:0002349 | 88.61 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.91 | gold quality |
| adrenal gland | UBERON:0002369 | 87.00 | gold quality |
| bronchial epithelial cell | CL:0002328 | 86.94 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 86.34 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.34 | gold quality |
| popliteal artery | UBERON:0002250 | 85.25 | gold quality |
| tibial artery | UBERON:0007610 | 85.25 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.00 | gold quality |
| bronchus | UBERON:0002185 | 84.87 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.80 | gold quality |
| rectum | UBERON:0001052 | 84.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting NUDT7, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-1228-3P | 99.00 | 66.53 | 857 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-6818-3P | 98.56 | 68.23 | 1307 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-4701-3P | 98.17 | 66.25 | 788 |
| HSA-MIR-6736-5P | 98.17 | 66.43 | 760 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-9851-5P | 97.57 | 67.49 | 1067 |
| HSA-MIR-509-3-5P | 97.21 | 67.74 | 1517 |
| HSA-MIR-509-5P | 97.21 | 67.90 | 1512 |
| HSA-MIR-4418 | 97.04 | 67.16 | 1372 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nudt7 | ENSDARG00000070387 |
| mus_musculus | Nudt7 | ENSMUSG00000031767 |
| rattus_norvegicus | Nudt7 | ENSRNOG00000011976 |
Protein
Protein identifiers
Peroxisomal coenzyme A diphosphatase NUDT7 — P0C024 (reviewed: P0C024)
Alternative names: Nucleoside diphosphate-linked moiety X motif 7
All UniProt accessions (4): P0C024, A0A087WVP7, H3BMZ7, H3BRQ8
UniProt curated annotations — full annotation on UniProt →
Function. Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4’-phosphopantetheine and adenosine 3’,5’-bisphosphate. Cleaves CoA, CoA esters and oxidized CoA with similar efficiencies. Preferentially hydrolyzes medium-chain acyl-CoAs and bile acid-CoAs. Has no activity toward NDP-sugars, CDP-alcohols, (deoxy)nucleoside 5’-triphosphates, nucleoside 5’-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5’-monophospho-p-nitrophenyl ester. May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA and acyl-CoA levels in this organelle in response to metabolic demand. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA. Exhibits decapping activity towards dpCoA-capped RNAs in vitro.
Subunit / interactions. Monomer.
Subcellular location. Peroxisome.
Tissue specificity. Expressed in liver, kidney, pancreas, pituitary, small intestine, spleen, heart and placenta. Weakly expressed in brain.
Activity regulation. Inhibited by fluoride.
Similarity. Belongs to the Nudix hydrolase family. PCD1 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P0C024-1 | 1 | yes |
| P0C024-2 | 2 | |
| P0C024-3 | 3 |
RefSeq proteins (4): NP_001099133, NP_001230586, NP_001230589, NP_001230590 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000059 | NUDIX_hydrolase_NudL_CS | Conserved_site |
| IPR000086 | NUDIX_hydrolase_dom | Domain |
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
| IPR045121 | CoAse | Family |
Pfam: PF00293
Catalyzed reactions (Rhea), 12 shown:
- butanoyl-CoA + H2O = S-butanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:49976)
- hexanoyl-CoA + H2O = hexanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:49980)
- octanoyl-CoA + H2O = S-octanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50016)
- decanoyl-CoA + H2O = decanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50020)
- dodecanoyl-CoA + H2O = S-dodecanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50024)
- tetradecanoyl-CoA + H2O = tetradecanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50028)
- choloyl-CoA + H2O = S-choloyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50036)
- 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + H2O = 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50040)
- CoA + H2O = (R)-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:64988)
- acetyl-CoA + H2O = S-acetyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:64992)
- propanoyl-CoA + H2O = propanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:67464)
- malonyl-CoA + H2O = malonyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:67468)
UniProt features (34 total): strand 11, helix 6, turn 4, splice variant 3, sequence variant 2, short sequence motif 2, binding site 2, chain 1, domain 1, site 1, modified residue 1
Structure
Experimental structures (PDB)
38 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5QHH | X-RAY DIFFRACTION | 1.52 |
| 5QGS | X-RAY DIFFRACTION | 1.55 |
| 5QH0 | X-RAY DIFFRACTION | 1.57 |
| 5QHA | X-RAY DIFFRACTION | 1.57 |
| 5QHB | X-RAY DIFFRACTION | 1.57 |
| 5QGV | X-RAY DIFFRACTION | 1.59 |
| 5QGX | X-RAY DIFFRACTION | 1.61 |
| 5QGZ | X-RAY DIFFRACTION | 1.65 |
| 5QH1 | X-RAY DIFFRACTION | 1.65 |
| 5QH3 | X-RAY DIFFRACTION | 1.65 |
| 5QH4 | X-RAY DIFFRACTION | 1.67 |
| 5QHF | X-RAY DIFFRACTION | 1.67 |
| 5QGU | X-RAY DIFFRACTION | 1.71 |
| 5QGY | X-RAY DIFFRACTION | 1.72 |
| 5QH9 | X-RAY DIFFRACTION | 1.72 |
| 5QH2 | X-RAY DIFFRACTION | 1.74 |
| 5QH7 | X-RAY DIFFRACTION | 1.74 |
| 5QHE | X-RAY DIFFRACTION | 1.74 |
| 5QH8 | X-RAY DIFFRACTION | 1.75 |
| 5QGK | X-RAY DIFFRACTION | 1.81 |
| 5QGH | X-RAY DIFFRACTION | 1.82 |
| 5QGO | X-RAY DIFFRACTION | 1.82 |
| 5QH5 | X-RAY DIFFRACTION | 1.85 |
| 5QGG | X-RAY DIFFRACTION | 1.91 |
| 5QHG | X-RAY DIFFRACTION | 1.92 |
| 5QGW | X-RAY DIFFRACTION | 1.94 |
| 5QGI | X-RAY DIFFRACTION | 1.95 |
| 5QGJ | X-RAY DIFFRACTION | 1.95 |
| 5QGN | X-RAY DIFFRACTION | 1.95 |
| 5QGQ | X-RAY DIFFRACTION | 1.95 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0C024-F1 | 94.23 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 66 (important for coenzyme a binding)
Ligand- & substrate-binding residues (2): 92; 96
Post-translational modifications (1): 20
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-390918 | Peroxisomal lipid metabolism |
| R-HSA-9033241 | Peroxisomal protein import |
MSigDB gene sets: 150 (showing top):
GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, FISCHER_G1_S_CELL_CYCLE, GOBP_COENZYME_A_METABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_CATABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_DN, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS
GO Biological Process (10): nucleoside diphosphate metabolic process (GO:0009132), coenzyme A catabolic process (GO:0015938), medium-chain fatty-acyl-CoA catabolic process (GO:0036114), butyryl-CoA catabolic process (GO:0044580), acetyl-CoA catabolic process (GO:0046356), brown fat cell differentiation (GO:0050873), succinyl-CoA catabolic process (GO:1901289), propionyl-CoA metabolic process (GO:1902858), propionyl-CoA catabolic process (GO:1902859), malonyl-CoA catabolic process (GO:2001294)
GO Molecular Function (8): magnesium ion binding (GO:0000287), coenzyme A diphosphatase activity (GO:0010945), manganese ion binding (GO:0030145), snoRNA binding (GO:0030515), RNA binding (GO:0003723), hydrolase activity (GO:0016787), hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818), metal ion binding (GO:0046872)
GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Fatty acid metabolism | 1 |
| Protein localization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sulfur compound catabolic process | 4 |
| purine-containing compound catabolic process | 4 |
| nucleoside phosphate catabolic process | 4 |
| fatty-acyl-CoA catabolic process | 3 |
| nucleoside phosphate metabolic process | 1 |
| coenzyme A metabolic process | 1 |
| medium-chain fatty-acyl-CoA metabolic process | 1 |
| fatty acid catabolic process | 1 |
| acetyl-CoA metabolic process | 1 |
| fat cell differentiation | 1 |
| succinyl-CoA metabolic process | 1 |
| fatty-acyl-CoA metabolic process | 1 |
| propionyl-CoA metabolic process | 1 |
| malonyl-CoA metabolic process | 1 |
| metal ion binding | 1 |
| pyrophosphatase activity | 1 |
| transition metal ion binding | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| catalytic activity | 1 |
| hydrolase activity, acting on acid anhydrides | 1 |
| cation binding | 1 |
| microbody | 1 |
| peroxisome | 1 |
| microbody lumen | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1139 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NUDT7 | NUDT19 | A8MXV4 | 736 |
| NUDT7 | NUDT12 | Q9BQG2 | 679 |
| NUDT7 | NUDT13 | Q86X67 | 611 |
| NUDT7 | NUDT2 | P50583 | 564 |
| NUDT7 | NUDT5 | Q9UKK9 | 557 |
| NUDT7 | NUDT22 | Q9BRQ3 | 544 |
| NUDT7 | NUDT15 | Q9NV35 | 536 |
| NUDT7 | NUDT17 | P0C025 | 506 |
| NUDT7 | NUDT4B | A0A024RBG1 | 501 |
| NUDT7 | PRADC1 | Q9BSG0 | 490 |
| NUDT7 | NUDT18 | Q6ZVK8 | 476 |
| NUDT7 | NUDT6 | P53370 | 468 |
| NUDT7 | NUDT3 | O95989 | 464 |
| NUDT7 | CCDC18 | Q5T9S5 | 464 |
| NUDT7 | PANK1 | Q8TE04 | 463 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (2): NUDT7 (Affinity Capture-MS), NUDT7 (Protein-peptide)
ESM2 similar proteins: A2WYE9, A7T395, B7PXE3, F4HX15, F4IAE9, F4JLK2, O13717, O22060, O22243, O22951, O22993, O23461, O45830, O59761, P0C024, P31928, P34305, Q02331, Q0JGK4, Q12524, Q1EHT7, Q1PCQ8, Q23236, Q43845, Q4V8V2, Q5I3B2, Q5RDX4, Q5S7T7, Q67WN8, Q6ATJ8, Q6P158, Q6QN12, Q6ZHZ1, Q8GYB1, Q8L6H7, Q8L7W2, Q8RY24, Q92813, Q944S1, Q99MY2
Diamond homologs: A1ABY1, A1JMC0, A4TKD0, A4WBH1, A6TAY4, A7FJ95, A7MKE8, A7ZMT6, A8A110, A8AFP5, A9MVU1, A9R5X2, B1J0S5, B1JP41, B1LD60, B1XH80, B2K0H0, B2U449, B4SUL8, B4TKF7, B4TXZ6, B5BHD1, B5F3R6, B5FTK8, B5R2U5, B5XQ60, B5YQV4, B6IBP0, B7L6U1, B7LPN4, B7M287, B7MBL9, B7MVU2, B7NBF9, B7NSW2, B7USI8, C0Q309, C4ZZG9, O22951, P0A2K9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
822 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:77725429:A:AG | acceptor_gain | 1.0000 |
| 16:77725430:G:GG | acceptor_gain | 1.0000 |
| 16:77735951:G:GT | donor_gain | 1.0000 |
| 16:77741580:A:AG | acceptor_gain | 1.0000 |
| 16:77741581:G:GG | acceptor_gain | 1.0000 |
| 16:77741581:GACA:G | acceptor_gain | 1.0000 |
| 16:77722613:GTCAG:G | donor_gain | 0.9900 |
| 16:77722614:TCAGG:T | donor_loss | 0.9900 |
| 16:77722615:CAGG:C | donor_loss | 0.9900 |
| 16:77722616:AGGTA:A | donor_loss | 0.9900 |
| 16:77722617:GG:G | donor_loss | 0.9900 |
| 16:77722618:G:A | donor_loss | 0.9900 |
| 16:77722619:T:A | donor_loss | 0.9900 |
| 16:77725417:T:TA | acceptor_loss | 0.9900 |
| 16:77725426:TTTA:T | acceptor_loss | 0.9900 |
| 16:77725428:TA:T | acceptor_loss | 0.9900 |
| 16:77725430:GAAAC:G | acceptor_gain | 0.9900 |
| 16:77725580:AGAAG:A | donor_loss | 0.9900 |
| 16:77725582:AAGG:A | donor_loss | 0.9900 |
| 16:77725583:AGG:A | donor_loss | 0.9900 |
| 16:77725585:G:T | donor_loss | 0.9900 |
| 16:77725586:T:G | donor_loss | 0.9900 |
| 16:77735924:G:GT | donor_gain | 0.9900 |
| 16:77735949:TGG:T | donor_gain | 0.9900 |
| 16:77741573:T:A | acceptor_gain | 0.9900 |
| 16:77741581:GA:G | acceptor_gain | 0.9900 |
| 16:77741581:GAC:G | acceptor_gain | 0.9900 |
| 16:77725428:TAGAA:T | acceptor_gain | 0.9800 |
| 16:77725429:AGAAA:A | acceptor_gain | 0.9800 |
| 16:77725430:GAAA:G | acceptor_gain | 0.9800 |
AlphaMissense
1551 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:77735914:A:C | E92D | 0.987 |
| 16:77735914:A:T | E92D | 0.987 |
| 16:77735915:G:C | A93P | 0.987 |
| 16:77741666:T:C | F145L | 0.981 |
| 16:77741668:C:A | F145L | 0.981 |
| 16:77741668:C:G | F145L | 0.981 |
| 16:77735926:A:C | E96D | 0.979 |
| 16:77735926:A:T | E96D | 0.979 |
| 16:77735854:C:G | C72W | 0.978 |
| 16:77735910:G:C | R91P | 0.977 |
| 16:77735904:C:A | A89D | 0.975 |
| 16:77741820:C:A | A196E | 0.974 |
| 16:77741688:T:C | F152S | 0.973 |
| 16:77735856:T:C | F73S | 0.972 |
| 16:77741756:T:C | F175L | 0.972 |
| 16:77741758:T:A | F175L | 0.972 |
| 16:77741758:T:G | F175L | 0.972 |
| 16:77735913:A:T | E92V | 0.968 |
| 16:77741667:T:C | F145S | 0.968 |
| 16:77735859:C:A | P74H | 0.967 |
| 16:77735852:T:C | C72R | 0.964 |
| 16:77741861:T:C | F210L | 0.963 |
| 16:77741863:T:A | F210L | 0.963 |
| 16:77741863:T:G | F210L | 0.963 |
| 16:77735853:G:A | C72Y | 0.962 |
| 16:77741610:G:A | G126D | 0.959 |
| 16:77735862:G:A | G75E | 0.958 |
| 16:77735924:G:C | E96Q | 0.958 |
| 16:77741627:T:C | F132L | 0.958 |
| 16:77741629:C:A | F132L | 0.958 |
dbSNP variants (sampled 300 via entrez): RS1000091522 (16:77731307 G>C), RS1000391549 (16:77721203 G>C), RS1000518870 (16:77720943 C>A,T), RS1000569351 (16:77726023 C>A,T), RS1000637796 (16:77725115 C>A,G), RS1000761487 (16:77723896 A>G), RS1000995692 (16:77720757 A>T), RS1001226351 (16:77737753 C>G,T), RS1001279134 (16:77742605 G>A), RS1001547922 (16:77733807 G>A), RS1001630682 (16:77740874 G>A,T), RS1001637270 (16:77728878 C>T), RS1001686160 (16:77735784 A>G), RS1001874489 (16:77729992 G>A,C), RS1001981341 (16:77734518 G>A,C)
Disease associations
OMIM: gene MIM:609231 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_826 | Obesity-related traits | 7.000000e-06 |
| GCST005170_34 | Intraocular pressure | 3.000000e-14 |
| GCST005580_124 | Intraocular pressure | 2.000000e-27 |
| GCST005580_204 | Intraocular pressure | 1.000000e-25 |
| GCST007001_10 | Cerebrospinal AB1-42 levels in normal cognition | 2.000000e-07 |
| GCST010683_4 | Graft survival time in renal transplantation (donor effect) | 2.000000e-07 |
| GCST90011770_75 | Glaucoma (primary open-angle) | 7.000000e-13 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0005199 | renal transplant outcome measurement |
| EFO:0007892 | donor genotype effect measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Hydrolases & Lipases
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| NUDT7-COV-1 | Inhibition | 5.96 | pIC50 |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 5 |
| trichostatin A | decreases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | decreases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Cisplatin | affects expression, affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| urushiol | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| sulforaphane | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| Am 580 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Calcitriol | increases 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_TB44 | HAP1 NUDT7 (-) 1 | Cancer cell line | Male |
| CVCL_TB45 | HAP1 NUDT7 (-) 2 | 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.