TRUB1
gene geneOn this page
Also known as PUS4
Summary
TRUB1 (TruB pseudouridine synthase family member 1, HGNC:16060) is a protein-coding gene on chromosome 10q25.3, encoding Pseudouridylate synthase TRUB1 (Q8WWH5). Pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs.
Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).
Source: NCBI Gene 142940 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_139169
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16060 |
| Approved symbol | TRUB1 |
| Name | TruB pseudouridine synthase family member 1 |
| Location | 10q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PUS4 |
| Ensembl gene | ENSG00000165832 |
| Ensembl biotype | protein_coding |
| OMIM | 610726 |
| Entrez | 142940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000298746, ENST00000485065, ENST00000900221, ENST00000900222, ENST00000900223, ENST00000922143, ENST00000948779
RefSeq mRNA: 1 — MANE Select: NM_139169
NM_139169
CCDS: CCDS7591
Canonical transcript exons
ENST00000298746 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001097026 | 114959726 | 114959807 |
| ENSE00001097091 | 114970368 | 114970440 |
| ENSE00001131261 | 114974329 | 114974385 |
| ENSE00001131265 | 114972135 | 114972274 |
| ENSE00001194052 | 114975123 | 114977676 |
| ENSE00001194057 | 114938195 | 114938539 |
| ENSE00003485263 | 114942645 | 114942743 |
| ENSE00003679685 | 114951094 | 114951149 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 95.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9191 / max 172.2434, expressed in 1792 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107169 | 16.9191 | 1792 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 95.88 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.80 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.79 | silver quality |
| myocardium | UBERON:0002349 | 93.16 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 90.32 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.72 | gold quality |
| kidney epithelium | UBERON:0004819 | 89.18 | silver quality |
| calcaneal tendon | UBERON:0003701 | 89.07 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.65 | gold quality |
| ileal mucosa | UBERON:0000331 | 88.62 | gold quality |
| adrenal gland | UBERON:0002369 | 88.59 | gold quality |
| heart right ventricle | UBERON:0002080 | 88.50 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.48 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.43 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 88.22 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.00 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.96 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.73 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.66 | gold quality |
| retina | UBERON:0000966 | 87.64 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.30 | gold quality |
| cauda epididymis | UBERON:0004360 | 87.23 | gold quality |
| colonic mucosa | UBERON:0000317 | 87.21 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.99 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 86.42 | gold quality |
| oocyte | CL:0000023 | 86.41 | gold quality |
| entorhinal cortex | UBERON:0002728 | 86.38 | gold quality |
| caput epididymis | UBERON:0004358 | 86.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
166 targeting TRUB1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
Literature-anchored findings (GeneRIF, showing 6)
- TRUB1 gene encodes a 349-amino acid product, with a VFAVHKPKGPTSA box in positions 71-83 corresponding to motif I of the TruB family (PMID:12736709)
- The tRNA pseudouridine synthase TruB1 regulates the maturation of let-7 miRNA. (PMID:32926445)
- Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA. (PMID:33023933)
- Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Psi55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro. (PMID:36018806)
- Quantitative sequencing using BID-seq uncovers abundant pseudouridines in mammalian mRNA at base resolution. (PMID:36302989)
- Structural basis of pri-let-7 recognition by human pseudouridine synthase TruB1. (PMID:38776834)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trub1 | ENSDARG00000053805 |
| mus_musculus | Trub1 | ENSMUSG00000025086 |
| rattus_norvegicus | Trub1 | ENSRNOG00000017321 |
Protein
Protein identifiers
Pseudouridylate synthase TRUB1 — Q8WWH5 (reviewed: Q8WWH5)
Alternative names: TruB pseudouridine synthase homolog 1, tRNA pseudouridine 55 synthase TRUB1
All UniProt accessions (1): Q8WWH5
UniProt curated annotations — full annotation on UniProt →
Function. Pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs. Mediates pseudouridylation of mRNAs with the consensus sequence 5’-GUUCNANNC-3’, harboring a stem-loop structure. Constitutes the major pseudouridine synthase acting on mRNAs. Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs. Promotes the processing of pri-let-7 microRNAs (pri-miRNAs) independently of its RNA pseudouridylate synthase activity. Acts by binding to the stem-loop structure on pri-let-7, preventing LIN28-binding (LIN28A and/or LIN28B), thereby enhancing the interaction between pri-let-7 and the microprocessor DGCR8, which mediates miRNA maturation.
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Tissue specificity. Highly expressed in heart, skeletal muscle and liver. Expressed at lower levels in lung, small intestine, kidney and spleen.
Similarity. Belongs to the pseudouridine synthase TruB family.
RefSeq proteins (1): NP_631908* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002501 | PsdUridine_synth_N | Domain |
| IPR014780 | tRNA_psdUridine_synth_TruB | Family |
| IPR020103 | PsdUridine_synth_cat_dom_sf | Homologous_superfamily |
Pfam: PF01509
Catalyzed reactions (Rhea), 3 shown:
- uridine(55) in tRNA = pseudouridine(55) in tRNA (RHEA:42532)
- a uridine in tRNA = a pseudouridine in tRNA (RHEA:54572)
- a uridine in mRNA = a pseudouridine in mRNA (RHEA:56644)
UniProt features (11 total): mutagenesis site 3, modified residue 2, sequence variant 2, initiator methionine 1, chain 1, sequence conflict 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8JFX | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WWH5-F1 | 81.45 | 0.64 |
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): 121 (nucleophile)
Post-translational modifications (2): 2, 11
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 121 | abolished pseudouridine synthase activity without affecting ability to promote processing of let-7 mirnas; when associat |
| 147 | abolished rna-binding and ability to promote processing of let-7 mirnas. |
| 163 | abolished pseudouridine synthase activity without affecting ability to promote processing of let-7 mirnas; when associat |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 168 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_TRNA_METABOLIC_PROCESS, GGAMTNNNNNTCCY_UNKNOWN, GOBP_MRNA_MODIFICATION, GOBP_PSEUDOURIDINE_SYNTHESIS, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, SENESE_HDAC1_TARGETS_UP, GOBP_PRE_MIRNA_PROCESSING, GOBP_TRNA_PROCESSING, DURCHDEWALD_SKIN_CARCINOGENESIS_UP, GOBP_TRNA_MODIFICATION
GO Biological Process (9): mRNA processing (GO:0006397), tRNA modification (GO:0006400), tRNA pseudouridine synthesis (GO:0031119), mRNA pseudouridine synthesis (GO:1990481), positive regulation of pre-miRNA processing (GO:2000633), pseudouridine synthesis (GO:0001522), RNA processing (GO:0006396), tRNA processing (GO:0008033), RNA modification (GO:0009451)
GO Molecular Function (7): pseudouridine synthase activity (GO:0009982), pre-miRNA binding (GO:0070883), tRNA pseudouridine(55) synthase activity (GO:0160148), RNA binding (GO:0003723), protein binding (GO:0005515), isomerase activity (GO:0016853), tRNA pseudouridine synthase activity (GO:0106029)
GO Cellular Component (4): nucleus (GO:0005634), mitochondrion (GO:0005739), cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| RNA modification | 2 |
| pseudouridine synthesis | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| mRNA metabolic process | 1 |
| tRNA processing | 1 |
| tRNA modification | 1 |
| mRNA modification | 1 |
| pre-miRNA processing | 1 |
| positive regulation of miRNA processing | 1 |
| regulation of pre-miRNA processing | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| tRNA metabolic process | 1 |
| RNA metabolic process | 1 |
| macromolecule modification | 1 |
| intramolecular transferase activity | 1 |
| RNA binding | 1 |
| tRNA pseudouridine synthase activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| pseudouridine synthase activity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2624 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRUB1 | PUS1 | Q9Y606 | 876 |
| TRUB1 | PUS7 | Q96PZ0 | 873 |
| TRUB1 | PUS3 | Q9BZE2 | 838 |
| TRUB1 | PUS10 | Q3MIT2 | 833 |
| TRUB1 | RPUSD2 | Q8IZ73 | 811 |
| TRUB1 | PUS7L | Q9H0K6 | 781 |
| TRUB1 | TRMT1 | Q9NXH9 | 766 |
| TRUB1 | RPUSD3 | Q6P087 | 724 |
| TRUB1 | RPUSD4 | Q96CM3 | 716 |
| TRUB1 | TARBP1 | Q13395 | 689 |
| TRUB1 | TRMT6 | Q9UJA5 | 676 |
| TRUB1 | METTL1 | Q9UBP6 | 665 |
| TRUB1 | RPUSD1 | Q9UJJ7 | 654 |
| TRUB1 | PUSL1 | Q8N0Z8 | 648 |
| TRUB1 | WDR4 | P57081 | 645 |
| TRUB1 | NOP10 | Q9NPE3 | 645 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAF2 | HTRA2 | psi-mi:“MI:0914”(association) | 0.750 |
| SETMAR | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| TRUB1 | CAPG | psi-mi:“MI:0914”(association) | 0.500 |
| TRUB1 | CAPG | psi-mi:“MI:0915”(physical association) | 0.500 |
| TRUB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| TRUB1 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| CD72 | TRUB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRUB1 | E2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRUB1 | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| S100A9 | TRUB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A2 | APOB | psi-mi:“MI:0914”(association) | 0.350 |
| TRUB1 | USP11 | psi-mi:“MI:0914”(association) | 0.350 |
| PKM | PAWR | psi-mi:“MI:0914”(association) | 0.350 |
| SSB | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| PRPS2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A2 | CAPG | psi-mi:“MI:0914”(association) | 0.350 |
| NUDT9 | WDR5B | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| SNW1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDC5L | psi-mi:“MI:0914”(association) | 0.350 | |
| TRUB1 | E2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (47): TRUB1 (Co-fractionation), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), MTFMT (Affinity Capture-MS), USP11 (Affinity Capture-MS), TCEAL1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), TRUB1 (Affinity Capture-MS), MTFMT (Affinity Capture-MS)
ESM2 similar proteins: A2ADA5, A4PCD4, A6H611, D3ZDM7, F6PHZ6, O75344, P04053, P09838, P17256, P36195, P47823, P55345, Q01992, Q03426, Q08602, Q0V8R7, Q13144, Q1L8I0, Q3MIT2, Q4KM92, Q4QQT0, Q5CZL1, Q5E9Z1, Q5I0L3, Q5M7T9, Q5M934, Q5RFE6, Q5XGM5, Q64350, Q6GQ53, Q7L3T8, Q80W22, Q86YJ6, Q8BYL4, Q8C0D0, Q8CHW4, Q8N0Z8, Q8WWH5, Q91XW8, Q92089
Diamond homologs: A6LLV6, O59721, O95900, Q5M934, Q5XFW2, Q5XGG2, Q8C0D0, Q8WWH5, Q91WG3, A0AIC9, A0JUU8, A0Q0Q4, A0Q7W5, A1R520, A1S464, A1ST47, A1U5Z8, A3MJW6, A3N007, A3NUL2, A4IWL0, A4QEY6, A4VPN8, A4XYD8, A5FQR4, A5IIS7, A5N845, A5UBU2, A5UF28, A5W985, A6LEL7, A6VCJ9, A6VNE2, A7GG03, A7GRE0, A7NAR1, A8FDD4, B0JJJ5, B0KHX6, B0TXH9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1052 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:114938518:TTG:T | donor_gain | 1.0000 |
| 10:114938537:C:T | donor_gain | 1.0000 |
| 10:114938537:CAGG:C | donor_loss | 1.0000 |
| 10:114938539:GG:G | donor_loss | 1.0000 |
| 10:114938540:G:C | donor_loss | 1.0000 |
| 10:114938541:T:G | donor_loss | 1.0000 |
| 10:114951088:TTGTA:T | acceptor_loss | 1.0000 |
| 10:114951089:TGTA:T | acceptor_loss | 1.0000 |
| 10:114951090:GTAGT:G | acceptor_loss | 1.0000 |
| 10:114951091:TA:T | acceptor_loss | 1.0000 |
| 10:114951092:A:AG | acceptor_gain | 1.0000 |
| 10:114951092:A:G | acceptor_loss | 1.0000 |
| 10:114951092:AGTT:A | acceptor_gain | 1.0000 |
| 10:114951093:G:GG | acceptor_gain | 1.0000 |
| 10:114951093:GT:G | acceptor_gain | 1.0000 |
| 10:114951093:GTT:G | acceptor_gain | 1.0000 |
| 10:114951093:GTTG:G | acceptor_gain | 1.0000 |
| 10:114970441:G:GG | donor_gain | 1.0000 |
| 10:114972111:T:G | acceptor_gain | 1.0000 |
| 10:114972125:A:AG | acceptor_gain | 1.0000 |
| 10:114972126:T:G | acceptor_gain | 1.0000 |
| 10:114972130:A:AG | acceptor_gain | 1.0000 |
| 10:114972131:C:G | acceptor_gain | 1.0000 |
| 10:114972132:A:AG | acceptor_gain | 1.0000 |
| 10:114972133:A:G | acceptor_gain | 1.0000 |
| 10:114972272:TAGGT:T | donor_loss | 1.0000 |
| 10:114972273:AGG:A | donor_loss | 1.0000 |
| 10:114972274:GGTAA:G | donor_loss | 1.0000 |
| 10:114972275:G:GC | donor_loss | 1.0000 |
| 10:114972276:T:A | donor_loss | 1.0000 |
AlphaMissense
2228 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:114942702:G:A | G115E | 0.997 |
| 10:114942734:G:A | G126R | 0.996 |
| 10:114942734:G:C | G126R | 0.996 |
| 10:114951100:G:A | G131E | 0.996 |
| 10:114951149:G:C | K147N | 0.996 |
| 10:114951149:G:T | K147N | 0.996 |
| 10:114974339:T:G | C249W | 0.996 |
| 10:114974368:T:A | V259D | 0.996 |
| 10:114938481:G:C | K76N | 0.995 |
| 10:114938481:G:T | K76N | 0.995 |
| 10:114942704:C:G | H116D | 0.995 |
| 10:114942708:G:A | G117E | 0.995 |
| 10:114942735:G:A | G126E | 0.995 |
| 10:114959742:G:A | G153E | 0.995 |
| 10:114975153:T:C | L275P | 0.995 |
| 10:114975212:T:A | W295R | 0.995 |
| 10:114975212:T:C | W295R | 0.995 |
| 10:114942741:T:C | L128P | 0.994 |
| 10:114975138:C:A | A270D | 0.994 |
| 10:114959729:T:C | Y149H | 0.993 |
| 10:114974359:G:C | R256T | 0.993 |
| 10:114974380:G:A | G263E | 0.993 |
| 10:114938479:A:G | K76E | 0.992 |
| 10:114942721:C:A | D121E | 0.992 |
| 10:114942721:C:G | D121E | 0.992 |
| 10:114942738:T:A | V127D | 0.992 |
| 10:114951097:T:A | V130D | 0.992 |
| 10:114974337:T:C | C249R | 0.992 |
| 10:114974359:G:T | R256I | 0.992 |
| 10:114938519:T:C | L89S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000069781 (10:114943894 T>C), RS1000188759 (10:114961102 T>A,C), RS1000491323 (10:114967699 T>C), RS1000696970 (10:114961081 G>A), RS1000702805 (10:114954076 T>A,C), RS1000752470 (10:114953785 T>A,C,G), RS1000826824 (10:114972666 G>T), RS1000900460 (10:114973049 A>C), RS1000961749 (10:114948541 G>A,T), RS1001051388 (10:114960701 A>C), RS1001069800 (10:114942286 A>G), RS1001103945 (10:114942614 T>A,C), RS1001249814 (10:114955375 A>G), RS1001285459 (10:114950626 T>C), RS1001295534 (10:114950936 A>G)
Disease associations
OMIM: gene MIM:610726 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_226 | Refractive error | 2.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| 1-nitropyrene | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| corosolic acid | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Vorinostat | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Formaldehyde | increases expression | 1 |
| Gold | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | decreases 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_E0SC | Ubigene HeLa TRUB1 KO | Cancer cell line | Female |
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.