USP54
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Also known as FLJ37318bA137L10.3bA137L10.4
Summary
USP54 (ubiquitin specific peptidase 54, HGNC:23513) is a protein-coding gene on chromosome 10q22.2, encoding Ubiquitin carboxyl-terminal hydrolase 54 (Q70EL1). Deubiquitinase that specifically mediates ‘Lys-63’-linked deubiquitination of substrates with a polyubiquitin chain composed of at least 3 ubiquitins.
Enables K63-linked deubiquitinase activity and cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination and proteolysis.
Source: NCBI Gene 159195 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 177 total
- MANE Select transcript:
NM_001391956
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23513 |
| Approved symbol | USP54 |
| Name | ubiquitin specific peptidase 54 |
| Location | 10q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ37318, bA137L10.3, bA137L10.4 |
| Ensembl gene | ENSG00000166348 |
| Ensembl biotype | protein_coding |
| Entrez | 159195 |
Gene structure
Transcript identifiers
Ensembl transcripts: 54 — 44 protein_coding, 7 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000339859, ENST00000413442, ENST00000418501, ENST00000422491, ENST00000424265, ENST00000433394, ENST00000451492, ENST00000461520, ENST00000464635, ENST00000466048, ENST00000474929, ENST00000480210, ENST00000481991, ENST00000492357, ENST00000497106, ENST00000498143, ENST00000498213, ENST00000680396, ENST00000681793, ENST00000685297, ENST00000687418, ENST00000687698, ENST00000689425, ENST00000691043, ENST00000693251, ENST00000874399, ENST00000874400, ENST00000874401, ENST00000874402, ENST00000874403, ENST00000874404, ENST00000928932, ENST00000928933, ENST00000928934, ENST00000928935, ENST00000928936, ENST00000928937, ENST00000928938, ENST00000928939, ENST00000928940, ENST00000928941, ENST00000928942, ENST00000928943, ENST00000928944, ENST00000928945, ENST00000928946, ENST00000928947, ENST00000928948, ENST00000928949, ENST00000928950, ENST00000928951, ENST00000928952, ENST00000946544, ENST00000946545
RefSeq mRNA: 21 — MANE Select: NM_001391956
NM_001320437, NM_001320441, NM_001350995, NM_001378208, NM_001378209, NM_001378210, NM_001391941, NM_001391942, NM_001391945, NM_001391946, NM_001391947, NM_001391948, NM_001391949, NM_001391950, NM_001391951, NM_001391952, NM_001391953, NM_001391954, NM_001391955, NM_001391956, NM_152586
CCDS: CCDS7329, CCDS91265
Canonical transcript exons
ENST00000687698 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001648278 | 73591278 | 73591342 |
| ENSE00003463359 | 73534600 | 73534770 |
| ENSE00003473950 | 73504850 | 73504990 |
| ENSE00003483170 | 73526647 | 73526780 |
| ENSE00003493062 | 73542803 | 73542885 |
| ENSE00003511017 | 73530143 | 73530523 |
| ENSE00003514774 | 73541633 | 73541738 |
| ENSE00003537903 | 73519797 | 73519992 |
| ENSE00003541807 | 73500655 | 73500838 |
| ENSE00003578204 | 73529680 | 73529911 |
| ENSE00003584911 | 73516375 | 73517747 |
| ENSE00003595135 | 73530704 | 73530835 |
| ENSE00003602320 | 73497538 | 73499188 |
| ENSE00003609408 | 73541375 | 73541521 |
| ENSE00003619326 | 73505308 | 73505426 |
| ENSE00003623772 | 73520908 | 73521027 |
| ENSE00003649552 | 73543018 | 73543131 |
| ENSE00003652075 | 73575512 | 73575675 |
| ENSE00003656844 | 73523583 | 73523750 |
| ENSE00003659549 | 73539444 | 73539593 |
| ENSE00003663908 | 73536269 | 73536437 |
| ENSE00003667326 | 73545538 | 73545672 |
| ENSE00003790062 | 73571421 | 73571513 |
| ENSE00003931546 | 73575798 | 73576361 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 99.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6949 / max 597.0157, expressed in 1590 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 110079 | 5.3394 | 608 |
| 110083 | 4.4863 | 1401 |
| 110075 | 0.8640 | 270 |
| 110077 | 0.5584 | 254 |
| 110078 | 0.2554 | 132 |
| 110081 | 0.1093 | 55 |
| 110080 | 0.0596 | 27 |
| 110076 | 0.0224 | 8 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 99.05 | gold quality |
| corpus callosum | UBERON:0002336 | 98.88 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.39 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.68 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.63 | gold quality |
| spinal cord | UBERON:0002240 | 97.63 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.26 | gold quality |
| muscle of leg | UBERON:0001383 | 96.93 | gold quality |
| deltoid | UBERON:0001476 | 96.85 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.82 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.81 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.59 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.54 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.54 | gold quality |
| thyroid gland | UBERON:0002046 | 96.51 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 96.34 | gold quality |
| globus pallidus | UBERON:0001875 | 96.29 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.19 | gold quality |
| midbrain | UBERON:0001891 | 96.15 | gold quality |
| substantia nigra | UBERON:0002038 | 96.09 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.05 | silver quality |
| medial globus pallidus | UBERON:0002477 | 96.04 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.62 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.22 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.20 | gold quality |
| sural nerve | UBERON:0015488 | 94.98 | gold quality |
| putamen | UBERON:0001874 | 94.55 | gold quality |
| upper arm skin | UBERON:0004263 | 94.53 | gold quality |
| amygdala | UBERON:0001876 | 94.35 | gold quality |
| pons | UBERON:0000988 | 94.25 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 17.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting USP54, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
Literature-anchored findings (GeneRIF, showing 3)
- we have demonstrated that USP54 is overexpressed in colon CSCs and promotes both colon carcinoma and melanoma progression. (PMID:27769071)
- USP54 is a potential therapeutic target in castration-resistant prostate cancer. (PMID:38321455)
- Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation. (PMID:38744954)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | usp54a | ENSDARG00000077948 |
| mus_musculus | Usp54 | ENSMUSG00000034235 |
| rattus_norvegicus | Usp54 | ENSRNOG00000027012 |
Paralogs (1): USP53 (ENSG00000145390)
Protein
Protein identifiers
Ubiquitin carboxyl-terminal hydrolase 54 — Q70EL1 (reviewed: Q70EL1)
Alternative names: Ubiquitin-specific peptidase 54
All UniProt accessions (15): A0A7P0T9K1, A0A7P0T9N2, A0A804D9U3, A0A8I5KNN9, A0A8I5KRV2, A0A8I5KTP4, Q70EL1, A0A8I5KYV7, A0A8I5KYW2, H7C1E9, H7C296, R4GN32, X6RGF2, X6RH50, X6RHN7
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinase that specifically mediates ‘Lys-63’-linked deubiquitination of substrates with a polyubiquitin chain composed of at least 3 ubiquitins. Specifically recognizes ubiquitin chain in position S2 and catalyzes cleavage of polyubiquitin within ‘Lys-63’-linked chains. Not able to deubiquitinate substrates with shorter ubiquitin chains. Mediates deubiquitination of PLK4, maintaining PLK4 stability by reducing its ubiquitination-mediated degradation.
Tissue specificity. Weakly expressed in a few tissues.
Similarity. Belongs to the peptidase C19 family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q70EL1-1 | 1 | yes |
| Q70EL1-4 | 2 | |
| Q70EL1-6 | 3 | |
| Q70EL1-7 | 4 | |
| Q70EL1-8 | 5 | |
| Q70EL1-9 | 6 | |
| Q70EL1-10 | 7 |
RefSeq proteins (21): NP_001307366, NP_001307370, NP_001337924, NP_001365137, NP_001365138, NP_001365139, NP_001378870, NP_001378871, NP_001378874, NP_001378875, NP_001378876, NP_001378877, NP_001378878, NP_001378879, NP_001378880, NP_001378881, NP_001378882, NP_001378883, NP_001378884, NP_001378885, NP_689799 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001394 | Peptidase_C19_UCH | Domain |
| IPR028889 | USP | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR052398 | Ubiquitin_hydrolase_53/54 | Family |
Pfam: PF00443
UniProt features (107 total): compositionally biased region 18, strand 16, helix 12, binding site 12, region of interest 11, splice variant 8, modified residue 7, sequence conflict 7, turn 5, sequence variant 4, active site 2, mutagenesis site 2, chain 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8C61 | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q70EL1-F1 | 48.67 | 0.18 |
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 (2): 42 (nucleophile); 302 (proton acceptor)
Ligand- & substrate-binding residues (12): 67; 69; 74; 77; 133; 145; 150; 153; 166; 169; 225; 229
Post-translational modifications (7): 12, 481, 603, 632, 671, 674, 1189
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 100 | strongly decreased ability to catalyze deubiquitination. |
| 161 | reduced ability to mediate cleavage of tri- and tetra-ubiquitin chains. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 136 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GCANCTGNY_MYOD_Q6, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, CAGCTG_AP4_Q5, MYOD_01, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_DN, TGGNNNNNNKCCAR_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, AR_01, AR_Q2, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOBP_PROTEOLYSIS, GEORGES_TARGETS_OF_MIR192_AND_MIR215
GO Biological Process (2): proteolysis (GO:0006508), protein deubiquitination (GO:0016579)
GO Molecular Function (6): cysteine-type deubiquitinase activity (GO:0004843), K63-linked deubiquitinase activity (GO:0061578), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| deubiquitinase activity | 2 |
| protein metabolic process | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| cysteine-type peptidase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
Protein interactions and networks
STRING
894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USP54 | PAN2 | Q504Q3 | 660 |
| USP54 | USP50 | Q70EL3 | 633 |
| USP54 | USP39 | Q53GS9 | 578 |
| USP54 | USP43 | Q70EL4 | 575 |
| USP54 | C1orf74 | Q96LT6 | 517 |
| USP54 | USP33 | Q8TEY7 | 503 |
| USP54 | USP38 | Q8NB14 | 486 |
| USP54 | USP8 | P40818 | 478 |
| USP54 | USPL1 | Q5W0Q7 | 468 |
| USP54 | USP35 | Q9P2H5 | 454 |
| USP54 | USP49 | Q70CQ1 | 453 |
| USP54 | USP45 | Q70EL2 | 450 |
| USP54 | USP11 | P51784 | 445 |
| USP54 | USP13 | Q92995 | 439 |
| USP54 | USP48 | Q86UV5 | 433 |
IntAct
114 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IKBKG | IKBKB | psi-mi:“MI:0914”(association) | 0.980 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| USP54 | rep | psi-mi:“MI:0915”(physical association) | 0.660 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| PDCL3 | PEX7 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| EIF4E2 | USP54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NXT2 | USP54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VRK3 | USP54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP54 | DYRK1A | psi-mi:“MI:0914”(association) | 0.550 |
| rep | SBNO1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| CAPN2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| DISC1 | AP4M1 | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ATXN1 | USP54 | psi-mi:“MI:0915”(physical association) | 0.510 |
| USP54 | CHMP1A | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CHMP1B | USP54 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| USP54 | CHMP2A | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (266): USP54 (Affinity Capture-MS), USP54 (Two-hybrid), USP54 (Two-hybrid), USP54 (Affinity Capture-MS), USP54 (Affinity Capture-MS), USP54 (Affinity Capture-MS), USP54 (Affinity Capture-MS), USP54 (Affinity Capture-MS), USP54 (Affinity Capture-MS), USP54 (Affinity Capture-MS), USP54 (Proximity Label-MS), USP54 (Proximity Label-MS), USP54 (Proximity Label-MS), USP54 (Proximity Label-MS), USP54 (Proximity Label-MS)
ESM2 similar proteins: A0A2R6W1B1, A0FKI7, A2XC52, A2XTW9, A2Y0Q2, B8AMA8, B8B8I3, F4I9G2, O94972, P07106, P20067, P41135, P85828, Q5EAE9, Q5EAH9, Q5R7V3, Q5T8D3, Q5XEM9, Q5XG73, Q5XI67, Q6EPZ2, Q6GPE9, Q6IE24, Q6PCX9, Q70EL1, Q75IR6, Q76N89, Q7XUW3, Q84TV4, Q86UB2, Q8BJL1, Q8BL06, Q8CBX9, Q8H383, Q8H8C6, Q8K3A6, Q8K4P8, Q8LA16, Q8TB52, Q96S38
Diamond homologs: P15975, Q6IE24, Q70EK8, Q70EL1, Q8BL06
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 78.4× | 1e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 69.2× | 2e-10 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 69.2× | 2e-10 |
| Activation of BH3-only proteins | 7 | 51.1× | 2e-09 |
| Budding and maturation of HIV virion | 8 | 48.0× | 2e-10 |
| Pyroptosis | 7 | 43.5× | 6e-09 |
| Endosomal Sorting Complex Required For Transport (ESCRT) | 8 | 43.3× | 4e-10 |
| Late endosomal microautophagy | 8 | 38.4× | 1e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nuclear membrane reassembly | 10 | 99.1× | 9e-17 |
| late endosome to lysosome transport | 10 | 99.1× | 9e-17 |
| viral budding via host ESCRT complex | 10 | 80.2× | 1e-15 |
| multivesicular body sorting pathway | 10 | 80.2× | 1e-15 |
| midbody abscission | 10 | 73.3× | 3e-15 |
| regulation of mitotic spindle assembly | 10 | 73.3× | 3e-15 |
| regulation of centrosome duplication | 8 | 58.6× | 2e-11 |
| plasma membrane repair | 10 | 58.1× | 4e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 148 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4834 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:73500838:CCT:C | acceptor_gain | 1.0000 |
| 10:73505321:A:AC | donor_gain | 1.0000 |
| 10:73505322:C:CC | donor_gain | 1.0000 |
| 10:73505322:CTGTT:C | donor_gain | 1.0000 |
| 10:73519989:TTAG:T | acceptor_gain | 1.0000 |
| 10:73523581:A:AT | donor_loss | 1.0000 |
| 10:73523581:AC:A | donor_gain | 1.0000 |
| 10:73523582:C:CT | donor_loss | 1.0000 |
| 10:73523582:CC:C | donor_gain | 1.0000 |
| 10:73536263:GCTCA:G | donor_loss | 1.0000 |
| 10:73536264:CTCAC:C | donor_loss | 1.0000 |
| 10:73536265:TCACC:T | donor_loss | 1.0000 |
| 10:73536266:CAC:C | donor_loss | 1.0000 |
| 10:73536267:A:C | donor_loss | 1.0000 |
| 10:73536433:CCAAT:C | acceptor_gain | 1.0000 |
| 10:73536434:CAAT:C | acceptor_gain | 1.0000 |
| 10:73536434:CAATC:C | acceptor_gain | 1.0000 |
| 10:73536435:AAT:A | acceptor_gain | 1.0000 |
| 10:73536436:AT:A | acceptor_gain | 1.0000 |
| 10:73536437:TC:T | acceptor_loss | 1.0000 |
| 10:73536438:C:CC | acceptor_gain | 1.0000 |
| 10:73536438:CT:C | acceptor_loss | 1.0000 |
| 10:73536444:C:CT | acceptor_gain | 1.0000 |
| 10:73536444:C:T | acceptor_gain | 1.0000 |
| 10:73536445:A:T | acceptor_gain | 1.0000 |
| 10:73536454:C:CT | acceptor_gain | 1.0000 |
| 10:73536454:C:T | acceptor_gain | 1.0000 |
| 10:73539442:ACCT:A | donor_gain | 1.0000 |
| 10:73539443:CCTC:C | donor_gain | 1.0000 |
| 10:73539445:T:TA | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000031081 (10:73604270 C>T), RS1000034890 (10:73574555 T>C), RS1000097938 (10:73602990 G>A), RS1000106526 (10:73574334 A>G), RS1000131563 (10:73554983 G>A,C), RS1000137397 (10:73603671 C>A,T), RS1000143306 (10:73527580 T>C), RS1000174951 (10:73623752 T>C), RS1000175059 (10:73508071 G>A), RS1000190182 (10:73603308 A>C), RS1000225951 (10:73507839 A>G), RS1000328332 (10:73534101 G>A), RS1000361663 (10:73547492 A>G), RS1000362945 (10:73580921 C>T), RS1000376146 (10:73547714 C>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010396_122 | Gut microbiota (bacterial taxa, hurdle binary method) | 8.000000e-07 |
| GCST010396_93 | Gut microbiota (bacterial taxa, hurdle binary method) | 1.000000e-06 |
| GCST010463_19 | Childhood ALL/LBL (acute lymphoblastic leukemia/lymphoblastic lymphoma) treatment-related venous thromboembolism | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression, increases methylation | 4 |
| sodium arsenite | affects expression, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| bufotalin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Coumestrol | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases methylation, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Acrylamide | 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_B2KQ | Abcam HeLa USP54 KO | Cancer cell line | Female |
| CVCL_TX10 | HAP1 USP54 (-) | 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): venous thromboembolism