DUS1L
gene geneOn this page
Also known as PP3111DUS1
Summary
DUS1L (dihydrouridine synthase 1 like, HGNC:30086) is a protein-coding gene on chromosome 17q25.3, encoding tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like (Q6P1R4). Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs.
Enables tRNA-dihydrouridine16 synthase activity and tRNA-dihydrouridine17 synthase activity. Involved in tRNA dihydrouridine synthesis. Located in cytoplasm and nucleus.
Source: NCBI Gene 64118 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 95 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_022156
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30086 |
| Approved symbol | DUS1L |
| Name | dihydrouridine synthase 1 like |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PP3111, DUS1 |
| Ensembl gene | ENSG00000169718 |
| Ensembl biotype | protein_coding |
| OMIM | 621087 |
| Entrez | 64118 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 18 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay
ENST00000306796, ENST00000354321, ENST00000538833, ENST00000542088, ENST00000577574, ENST00000577907, ENST00000578176, ENST00000578264, ENST00000578428, ENST00000578846, ENST00000578907, ENST00000579854, ENST00000580731, ENST00000582407, ENST00000582529, ENST00000584871, ENST00000909424, ENST00000909425, ENST00000909426, ENST00000950985, ENST00000950986, ENST00000950987, ENST00000950988, ENST00000950989, ENST00000950990
RefSeq mRNA: 1 — MANE Select: NM_022156
NM_022156
CCDS: CCDS32775
Canonical transcript exons
ENST00000306796 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001163585 | 82060865 | 82060961 |
| ENSE00001314670 | 82061618 | 82061721 |
| ENSE00001506713 | 82060701 | 82060783 |
| ENSE00002276058 | 82064823 | 82065069 |
| ENSE00002483443 | 82064126 | 82064234 |
| ENSE00002695285 | 82065613 | 82065804 |
| ENSE00002708235 | 82057506 | 82058254 |
| ENSE00003498428 | 82058781 | 82058818 |
| ENSE00003499794 | 82063468 | 82063518 |
| ENSE00003533938 | 82062861 | 82062973 |
| ENSE00003559329 | 82061901 | 82061983 |
| ENSE00003591147 | 82058341 | 82058416 |
| ENSE00003626548 | 82061209 | 82061353 |
| ENSE00003685565 | 82059948 | 82060093 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 98.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.4167 / max 401.6199, expressed in 1815 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168900 | 27.2386 | 1814 |
| 168898 | 0.0755 | 14 |
| 168897 | 0.0631 | 15 |
| 168899 | 0.0394 | 8 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.49 | gold quality |
| body of pancreas | UBERON:0001150 | 98.22 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.03 | gold quality |
| body of stomach | UBERON:0001161 | 97.99 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.98 | gold quality |
| apex of heart | UBERON:0002098 | 97.81 | gold quality |
| granulocyte | CL:0000094 | 97.75 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.68 | gold quality |
| skin of leg | UBERON:0001511 | 97.66 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.64 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.57 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.56 | gold quality |
| transverse colon | UBERON:0001157 | 97.51 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.41 | gold quality |
| right testis | UBERON:0004534 | 97.40 | gold quality |
| left testis | UBERON:0004533 | 97.39 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 97.35 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.27 | gold quality |
| left uterine tube | UBERON:0001303 | 97.17 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.08 | gold quality |
| spleen | UBERON:0002106 | 96.93 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.88 | gold quality |
| pituitary gland | UBERON:0000007 | 96.85 | gold quality |
| right uterine tube | UBERON:0001302 | 96.83 | gold quality |
| endocervix | UBERON:0000458 | 96.80 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.80 | gold quality |
| parotid gland | UBERON:0001831 | 96.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting DUS1L, 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-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-3938 | 98.72 | 66.07 | 834 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-562 | 97.66 | 65.63 | 698 |
| HSA-MIR-4732-3P | 97.15 | 65.45 | 881 |
| HSA-MIR-6872-5P | 95.60 | 67.57 | 55 |
| HSA-MIR-6814-3P | 93.66 | 66.98 | 50 |
| HSA-MIR-1268A | 87.06 | 61.46 | 145 |
| HSA-MIR-1268B | 87.06 | 61.46 | 145 |
Literature-anchored findings (GeneRIF, showing 1)
- Human DUS1L catalyzes dihydrouridine modification at tRNA positions 16/17, and DUS1L overexpression perturbs translation. (PMID:39354220)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dus1l | ENSDARG00000089260 |
| mus_musculus | Dus1l | ENSMUSG00000025155 |
| rattus_norvegicus | Dus1l | ENSRNOG00000047905 |
| drosophila_melanogaster | Dus1 | FBGN0031238 |
| caenorhabditis_elegans | F36A2.2 | WBGENE00009452 |
Paralogs (3): DUS4L (ENSG00000105865), DUS3L (ENSG00000141994), DUS2 (ENSG00000167264)
Protein
Protein identifiers
tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like — Q6P1R4 (reviewed: Q6P1R4)
Alternative names: tRNA-dihydrouridine synthase 1-like
All UniProt accessions (9): F5H0Q0, H0YGW8, J3KSK2, J3KT57, J3QKP9, J3QLE4, J3QQL9, Q6P1R4, J3QQZ0
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Specifically modifies U16 and U17 in cytoplasmic tRNAs. Affects the level of some mature tRNA and thereby the total cellular translation.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the Dus family. Dus1 subfamily.
RefSeq proteins (1): NP_071439* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013785 | Aldolase_TIM | Homologous_superfamily |
| IPR018517 | tRNA_hU_synthase_CS | Conserved_site |
| IPR035587 | DUS-like_FMN-bd | Domain |
Pfam: PF01207
Catalyzed reactions (Rhea), 4 shown:
- 5,6-dihydrouridine(17) in tRNA + NADP(+) = uridine(17) in tRNA + NADPH + H(+) (RHEA:53368)
- 5,6-dihydrouridine(17) in tRNA + NAD(+) = uridine(17) in tRNA + NADH + H(+) (RHEA:53372)
- 5,6-dihydrouridine(16) in tRNA + NADP(+) = uridine(16) in tRNA + NADPH + H(+) (RHEA:53376)
- 5,6-dihydrouridine(16) in tRNA + NAD(+) = uridine(16) in tRNA + NADH + H(+) (RHEA:53380)
UniProt features (13 total): binding site 6, region of interest 2, compositionally biased region 2, chain 1, mutagenesis site 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P1R4-F1 | 87.95 | 0.74 |
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): 108 (proton donor)
Ligand- & substrate-binding residues (6): 208–210; 232–233; 23–25; 79; 147; 175
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 108 | abolishes cell growth. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 146 (showing top):
GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_TRNA_METABOLIC_PROCESS, GOBP_RNA_MODIFICATION, MARTINEZ_RB1_TARGETS_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_TRNA_PROCESSING, GOBP_TRNA_MODIFICATION, PARENT_MTOR_SIGNALING_UP, LIU_SOX4_TARGETS_DN, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GOMF_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING, COULOUARN_TEMPORAL_TGFB1_SIGNATURE_DN, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_11, LI_DCP2_BOUND_MRNA
GO Biological Process (2): tRNA dihydrouridine synthesis (GO:0002943), tRNA processing (GO:0008033)
GO Molecular Function (7): tRNA dihydrouridine synthase activity (GO:0017150), flavin adenine dinucleotide binding (GO:0050660), tRNA-dihydrouridine16 synthase activity (GO:0102262), tRNA-dihydrouridine17 synthase activity (GO:0102263), nucleotide binding (GO:0000166), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA dihydrouridine synthase activity | 2 |
| tRNA modification | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| tRNA dihydrouridine synthesis | 1 |
| RNA dihydrouridine synthase activity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| nucleotide binding | 1 |
| anion binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1876 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUS1L | TRMT61A | Q96FX7 | 582 |
| DUS1L | METTL1 | Q9UBP6 | 525 |
| DUS1L | TRMT10A | Q8TBZ6 | 524 |
| DUS1L | TRMT1 | Q9NXH9 | 486 |
| DUS1L | TRMT5 | Q32P41 | 464 |
| DUS1L | WDR4 | P57081 | 464 |
| DUS1L | TRMT6 | Q9UJA5 | 463 |
| DUS1L | TRMT11 | Q7Z4G4 | 444 |
| DUS1L | NSUN2 | Q08J23 | 427 |
| DUS1L | PUS7 | Q96PZ0 | 421 |
| DUS1L | CCDC90B | Q9GZT6 | 411 |
| DUS1L | DUS3L | Q96G46 | 386 |
| DUS1L | DUS2 | Q9NX74 | 384 |
| DUS1L | TRMT44 | Q8IYL2 | 377 |
| DUS1L | TRMT2B | Q96GJ1 | 376 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MEOX2 | DUS1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAMK2B | DUS1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAMK2G | DUS1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLAD1 | UBAP2 | psi-mi:“MI:0914”(association) | 0.560 |
| CCT6A | TXNDC9 | psi-mi:“MI:0914”(association) | 0.530 |
| DUS1L | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DUS1L | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ECE1 | DUS1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| HJURP | psi-mi:“MI:0914”(association) | 0.350 | |
| SSB | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXD3 | CLUH | psi-mi:“MI:0914”(association) | 0.350 |
| HRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| HRAS | IGHV1-45 | psi-mi:“MI:0914”(association) | 0.350 |
| DUS1L | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DUS1L | CAMK2B | psi-mi:“MI:0915”(physical association) | 0.000 |
| DUS1L | CAMK2G | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): DUS1L (Affinity Capture-MS), DUS1L (Affinity Capture-MS), DUS1L (Reconstituted Complex), DUS1L (Two-hybrid), DUS1L (Two-hybrid), DUS1L (Two-hybrid), DUS1L (Affinity Capture-MS), DUS1L (Reconstituted Complex), DUS1L (Affinity Capture-MS), DUS1L (Affinity Capture-MS), DUS1L (Affinity Capture-MS), DUS1L (Affinity Capture-MS), DUS1L (Affinity Capture-MS), DUS1L (Co-fractionation), THUMPD2 (Co-fractionation)
ESM2 similar proteins: A1CJ34, A2QY22, A8MPP1, B3NSW1, B4GU19, B4I0K4, B4L1Z2, B4M891, B4NDG5, B4PZB4, F1R345, O00329, O12944, P38935, P40694, P70270, Q1E5T3, Q21489, Q24087, Q29FS3, Q2U587, Q3B7N1, Q4R4T6, Q5M9G7, Q5ZKD7, Q5ZLG3, Q642T7, Q68CQ4, Q6AXC6, Q6P1R4, Q6PEH4, Q750G3, Q7QEI1, Q7SXA9, Q7ZU90, Q80Y81, Q86WJ1, Q8BTT6, Q8C2P3, Q8CGS5
Diamond homologs: A3LUK5, A5DBS1, O25427, O27281, O52532, O52533, O52536, O52539, O67533, O68273, O83945, O95620, P0A2R6, P0A2R7, P0ABT5, P0ABT6, P0ABT7, P0CN28, P0CN29, P33371, P37567, P41504, P44606, P44965, P45672, P9WNS6, P9WNS7, Q06063, Q08111, Q09504, Q1RH84, Q28BT8, Q3KRC5, Q3SWF0, Q4UNJ4, Q50049, Q54CU9, Q55724, Q68XZ3, Q6CWM0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
95 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 77 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2425655 | NC_000017.10:g.(?79891090)(80333370_?)del | Pathogenic |
| 3383376 | NM_022156.5(DUS1L):c.896del (p.Glu299fs) | Likely pathogenic |
SpliceAI
2524 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:82058819:C:CC | acceptor_gain | 1.0000 |
| 17:82059942:ACTT:A | donor_loss | 1.0000 |
| 17:82059943:CTTA:C | donor_loss | 1.0000 |
| 17:82059944:TTA:T | donor_loss | 1.0000 |
| 17:82059945:TACGC:T | donor_loss | 1.0000 |
| 17:82059946:A:AC | donor_gain | 1.0000 |
| 17:82059946:ACG:A | donor_gain | 1.0000 |
| 17:82059947:C:CA | donor_gain | 1.0000 |
| 17:82059947:CG:C | donor_gain | 1.0000 |
| 17:82059947:CGC:C | donor_gain | 1.0000 |
| 17:82059947:CGCT:C | donor_gain | 1.0000 |
| 17:82059947:CGCTT:C | donor_gain | 1.0000 |
| 17:82060876:G:C | donor_gain | 1.0000 |
| 17:82061202:AACTC:A | donor_loss | 1.0000 |
| 17:82061203:ACT:A | donor_loss | 1.0000 |
| 17:82061204:CTC:C | donor_loss | 1.0000 |
| 17:82061205:TCACG:T | donor_loss | 1.0000 |
| 17:82061206:CA:C | donor_loss | 1.0000 |
| 17:82061207:A:AC | donor_gain | 1.0000 |
| 17:82061208:C:CC | donor_gain | 1.0000 |
| 17:82061208:CG:C | donor_gain | 1.0000 |
| 17:82061208:CGT:C | donor_gain | 1.0000 |
| 17:82061208:CGTG:C | donor_gain | 1.0000 |
| 17:82061208:CGTGT:C | donor_gain | 1.0000 |
| 17:82061349:GCCCT:G | acceptor_gain | 1.0000 |
| 17:82061350:CCCT:C | acceptor_gain | 1.0000 |
| 17:82061350:CCCTC:C | acceptor_gain | 1.0000 |
| 17:82061351:CCT:C | acceptor_gain | 1.0000 |
| 17:82061351:CCTC:C | acceptor_gain | 1.0000 |
| 17:82061352:CT:C | acceptor_gain | 1.0000 |
AlphaMissense
3084 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:82058347:A:G | C426R | 1.000 |
| 17:82058392:A:G | C411R | 1.000 |
| 17:82058407:A:G | C406R | 1.000 |
| 17:82064134:G:T | A113D | 1.000 |
| 17:82058345:G:C | C426W | 0.999 |
| 17:82058346:C:G | C426S | 0.999 |
| 17:82058346:C:T | C426Y | 0.999 |
| 17:82058347:A:T | C426S | 0.999 |
| 17:82058378:G:C | C415W | 0.999 |
| 17:82058379:C:G | C415S | 0.999 |
| 17:82058379:C:T | C415Y | 0.999 |
| 17:82058380:A:G | C415R | 0.999 |
| 17:82058380:A:T | C415S | 0.999 |
| 17:82058390:G:C | C411W | 0.999 |
| 17:82058391:C:G | C411S | 0.999 |
| 17:82058391:C:T | C411Y | 0.999 |
| 17:82058392:A:T | C411S | 0.999 |
| 17:82058406:C:G | C406S | 0.999 |
| 17:82058406:C:T | C406Y | 0.999 |
| 17:82058407:A:T | C406S | 0.999 |
| 17:82058795:A:G | C398R | 0.999 |
| 17:82058803:C:G | C395S | 0.999 |
| 17:82058804:A:G | C395R | 0.999 |
| 17:82058804:A:T | C395S | 0.999 |
| 17:82061226:G:C | F275L | 0.999 |
| 17:82061226:G:T | F275L | 0.999 |
| 17:82061228:A:G | F275L | 0.999 |
| 17:82061234:G:C | H273D | 0.999 |
| 17:82061964:C:G | R177P | 0.999 |
| 17:82062930:T:A | K147N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000871419 (17:82065975 G>A), RS1000903772 (17:82065025 C>A,T), RS1001096022 (17:82065260 C>A,T), RS10013 (17:82057352 C>G), RS1001435731 (17:82059088 T>C), RS1001618553 (17:82059409 G>A), RS1002170531 (17:82060254 G>A,C), RS1002226659 (17:82065520 A>C), RS1002369018 (17:82065259 T>A), RS1002840197 (17:82062571 T>A), RS1003127682 (17:82062043 T>A,C), RS1003262731 (17:82067294 C>T), RS1003461114 (17:82061473 G>A), RS1003533498 (17:82062808 C>T), RS1003589158 (17:82061283 A>G)
Disease associations
OMIM: gene MIM:621087 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): microcephaly (MONDO:0001149)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008862_5 | Triacylglycerol 56:6 levels | 7.000000e-07 |
| GCST010002_133 | Refractive error | 2.000000e-50 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 4 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 2 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propylparaben | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| 1-Butanol | affects cotreatment, increases abundance, increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0TZ | Ubigene Hep G2 DUS1L KO | Cancer cell line | Male |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05518188 | PHASE1/PHASE2 | RECRUITING | Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) |
| NCT00001639 | Not specified | COMPLETED | Evaluation of Patients With Unresolved Chromosome Abnormalities |
| NCT01151462 | Not specified | WITHDRAWN | Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. |
| NCT01565005 | Not specified | COMPLETED | Microcephaly Genetic Deficiency in Neural Progenitors |
| NCT02510170 | Not specified | COMPLETED | Fetal and Maternal Head Circumference During Pregnancy in Israeli Population |
| NCT02741882 | Not specified | COMPLETED | Zika and Microcephaly: Case-control Study |
| NCT02943304 | Not specified | COMPLETED | Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero |
| NCT03255369 | Not specified | UNKNOWN | Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) |
| NCT03325946 | Not specified | RECRUITING | The FBRI VTC Neuromotor Research Clinic |
| NCT03330600 | Not specified | COMPLETED | Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome |
| NCT03548779 | Not specified | COMPLETED | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 |
| NCT03651687 | Not specified | COMPLETED | Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) |
| NCT03922594 | Not specified | TERMINATED | Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia |
| NCT04816175 | Not specified | COMPLETED | Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay |
| NCT05322980 | Not specified | COMPLETED | Summary of Infants Weighing 500 Grams or Less |
| NCT06019182 | Not specified | RECRUITING | MEHMO Natural History and Biomarkers |
| NCT06566066 | Not specified | RECRUITING | Register for Patients With Thyroid Hormone Resistance. |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.