USP42
gene geneOn this page
Also known as FLJ12697
Summary
USP42 (ubiquitin specific peptidase 42, HGNC:20068) is a protein-coding gene on chromosome 7p22.1, encoding Ubiquitin carboxyl-terminal hydrolase 42 (Q9H9J4). Deubiquitinating enzyme which may play an important role during spermatogenesis.
Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination; regulation of apoptotic process; and regulation of protein stability. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus.
Source: NCBI Gene 84132 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 296 total
- MANE Select transcript:
NM_032172
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20068 |
| Approved symbol | USP42 |
| Name | ubiquitin specific peptidase 42 |
| Location | 7p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12697 |
| Ensembl gene | ENSG00000106346 |
| Ensembl biotype | protein_coding |
| OMIM | 620946 |
| Entrez | 84132 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron
ENST00000306177, ENST00000404008, ENST00000426246, ENST00000451154, ENST00000465073, ENST00000479544, ENST00000521713, ENST00000921020, ENST00000921021, ENST00000921022
RefSeq mRNA: 3 — MANE Select: NM_032172
NM_001365764, NM_001389650, NM_032172
CCDS: CCDS47535
Canonical transcript exons
ENST00000306177 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001877189 | 6160555 | 6161564 |
| ENSE00001904122 | 6104949 | 6105032 |
| ENSE00003467463 | 6156754 | 6157055 |
| ENSE00003472088 | 6146148 | 6146248 |
| ENSE00003472509 | 6111125 | 6111374 |
| ENSE00003506149 | 6140914 | 6140984 |
| ENSE00003561438 | 6135841 | 6135951 |
| ENSE00003568793 | 6150412 | 6150506 |
| ENSE00003572993 | 6145516 | 6145656 |
| ENSE00003622785 | 6115323 | 6115523 |
| ENSE00003625428 | 6149583 | 6150302 |
| ENSE00003631344 | 6153756 | 6155195 |
| ENSE00003646779 | 6147739 | 6147892 |
| ENSE00003649708 | 6139092 | 6139194 |
| ENSE00003651159 | 6140128 | 6140195 |
| ENSE00003656294 | 6142932 | 6143014 |
| ENSE00003670767 | 6144085 | 6144196 |
| ENSE00003681521 | 6159450 | 6159493 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 98.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3093 / max 74.3740, expressed in 1737 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 77137 | 7.3093 | 1737 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.52 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.96 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.34 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.85 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.24 | gold quality |
| oviduct epithelium | UBERON:0004804 | 86.01 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 84.94 | gold quality |
| tibialis anterior | UBERON:0001385 | 84.81 | silver quality |
| adult organism | UBERON:0007023 | 84.78 | gold quality |
| nipple | UBERON:0002030 | 84.62 | gold quality |
| cartilage tissue | UBERON:0002418 | 84.18 | gold quality |
| postcentral gyrus | UBERON:0002581 | 83.93 | gold quality |
| entorhinal cortex | UBERON:0002728 | 83.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.61 | gold quality |
| testis | UBERON:0000473 | 83.55 | gold quality |
| visceral pleura | UBERON:0002401 | 83.31 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 83.29 | gold quality |
| parietal lobe | UBERON:0001872 | 83.10 | gold quality |
| pylorus | UBERON:0001166 | 82.98 | gold quality |
| right testis | UBERON:0004534 | 82.89 | gold quality |
| thymus | UBERON:0002370 | 82.78 | gold quality |
| left testis | UBERON:0004533 | 82.69 | gold quality |
| cortical plate | UBERON:0005343 | 82.35 | gold quality |
| tibia | UBERON:0000979 | 82.31 | gold quality |
| cerebellar vermis | UBERON:0004720 | 82.25 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 82.11 | gold quality |
| retina | UBERON:0000966 | 82.10 | gold quality |
| bronchial epithelial cell | CL:0002328 | 82.05 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 82.03 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 81.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
145 targeting USP42, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
Literature-anchored findings (GeneRIF, showing 8)
- the function of USP42 is required to allow the rapid activation of p53-dependent transcription and a p53-dependent cell-cycle arrest in response to stress. (PMID:22085928)
- we report, for the first time, the identification of a RUNX1-USP42 fusion transcript detected at diagnosis in a child with AML and del(5). (PMID:24673627)
- a role for USP42 in regulating transcription by deubiquitylating histones (PMID:25336640)
- USP42 overexpression could be a potential prognostic marker for GC, regulate the survival and invasive properties of GC, and may represent a novel therapeutic molecular target for this tumor. (PMID:27030989)
- circUSP42 Is Downregulated in Triple-Negative Breast Cancer and Associated With Poor Prognosis. (PMID:32938310)
- Japanese Encephalitis Virus infection increases USP42 to stabilize TRIM21 and OAS1 for neuroinflammatory and anti-viral response in human microglia. (PMID:35779335)
- [Ubiquitin-specific protease 42 regulates osteogenic differentiation of human adipose-derived stem cells]. (PMID:38318890)
- Investigating USP42 Mutation as Underlying Cause of Familial Non-Medullary Thyroid Carcinoma. (PMID:38338801)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | usp42 | ENSDARG00000077300 |
| mus_musculus | Usp42 | ENSMUSG00000051306 |
| rattus_norvegicus | Usp42 | ENSRNOG00000001059 |
Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP43 (ENSG00000154914), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)
Protein
Protein identifiers
Ubiquitin carboxyl-terminal hydrolase 42 — Q9H9J4 (reviewed: Q9H9J4)
Alternative names: Deubiquitinating enzyme 42, Ubiquitin thioesterase 42, Ubiquitin-specific-processing protease 42
All UniProt accessions (6): Q9H9J4, B4DP25, C9JPC9, E5RJP3, E7EWZ4, F8WD92
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinating enzyme which may play an important role during spermatogenesis.
Tissue specificity. Broadly expressed.
Similarity. Belongs to the peptidase C19 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H9J4-1 | 1 | yes |
| Q9H9J4-2 | 2 |
RefSeq proteins (3): NP_001352693, NP_001376579, NP_115548* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001394 | Peptidase_C19_UCH | Domain |
| IPR018200 | USP_CS | Conserved_site |
| IPR028889 | USP | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR050164 | Peptidase_C19 | Family |
Pfam: PF00443
UniProt features (41 total): compositionally biased region 14, modified residue 9, region of interest 8, sequence conflict 4, active site 2, chain 1, domain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9J4-F1 | 49.27 | 0.22 |
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): 120 (nucleophile); 371 (proton acceptor)
Post-translational modifications (9): 75, 483, 754, 856, 1181, 1219, 1222, 1226, 1247
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689880 | Ub-specific processing proteases |
MSigDB gene sets: 195 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, AAGCCAT_MIR135A_MIR135B, GOBP_MALE_GAMETE_GENERATION, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, chr7p22, FOSTER_TOLERANT_MACROPHAGE_UP, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GROSS_HYPOXIA_VIA_HIF1A_UP, LIAO_METASTASIS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, CUI_TCF21_TARGETS_2_DN
GO Biological Process (6): proteolysis (GO:0006508), spermatogenesis (GO:0007283), protein deubiquitination (GO:0016579), cell differentiation (GO:0030154), regulation of protein stability (GO:0031647), regulation of apoptotic process (GO:0042981)
GO Molecular Function (5): cysteine-type deubiquitinase activity (GO:0004843), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| cellular developmental process | 1 |
| regulation of biological quality | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| cysteine-type peptidase activity | 1 |
| deubiquitinase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
656 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USP42 | TP53 | P04637 | 572 |
| USP42 | ZUP1 | Q96AP4 | 566 |
| USP42 | USP28 | Q96RU2 | 510 |
| USP42 | USP13 | Q92995 | 490 |
| USP42 | DHX9 | Q08211 | 481 |
| USP42 | USP5 | P45974 | 479 |
| USP42 | OTUD5 | Q96G74 | 447 |
| USP42 | OTUB1 | Q96FW1 | 439 |
| USP42 | RSPO1 | Q2MKA7 | 431 |
| USP42 | TMTC2 | Q8N394 | 419 |
| USP42 | UCHL3 | P15374 | 409 |
| USP42 | PAN2 | Q504Q3 | 406 |
| USP42 | H2BC21 | Q16778 | 404 |
| USP42 | USP25 | Q9UHP3 | 399 |
| USP42 | USP54 | Q70EL1 | 398 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAZ | LMNA | psi-mi:“MI:0914”(association) | 0.560 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| SRSF3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| Dlg4 | USP42 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| USP42 | TP53 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TP53 | USP42 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USP42 | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| ANK2 | IGKV2-40 | psi-mi:“MI:0914”(association) | 0.350 |
| ZCCHC10 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL11 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| SRSF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| AHCYL1 | TRAF5 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKRA | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| JMJD6 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| NFKBIL1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.350 |
| RNPS1 | TAF4 | psi-mi:“MI:0914”(association) | 0.350 |
| DHX8 | ISY1-RAB43 | psi-mi:“MI:0914”(association) | 0.350 |
| H1-1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| H1-6 | RIOK3 | psi-mi:“MI:0914”(association) | 0.350 |
| HMGA1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| LIN28A | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (83): HIST2H2BE (Affinity Capture-Western), USP42 (Proximity Label-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), ZEB1 (Affinity Capture-Western), USP42 (Reconstituted Complex), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS), USP42 (Affinity Capture-MS)
ESM2 similar proteins: A5PK23, A7MB40, B1AQJ2, B2RQC2, B5DEH0, D3ZEN0, D3ZQL6, D3ZU96, E1B9W9, E1BE02, F6NSX9, G5E5X0, O00257, O55187, O94966, O95402, P00519, P0C2N5, P30658, P42335, P48382, P59598, Q14781, Q3TN34, Q3U108, Q3U8K7, Q3UJD6, Q3ULZ2, Q4G0F8, Q5DTT2, Q68CZ2, Q6J1Y9, Q6ZPY7, Q76I79, Q7LBC6, Q7TN02, Q7TT28, Q86V15, Q8BLG0, Q8IY33
Diamond homologs: A4FUN7, A5PMR2, A5PN09, A6H8I0, A6NNY8, A6QNM7, A6QR55, A7Z056, A8MUK1, B1AY15, B1WBD7, B2GUZ1, B2RQC2, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D3ZU96, D6R901, D6R9N7, D6RA61, D6RBM5, D6RBQ6, D6RCP7, D6RJB6, E1B9W9, F6Z5C0, M9PD06, O22207, O60079, O75604, O94966, P0C8Z3, P35123, P39538, P40818, P50102, P51784, Q09738, Q0WX57
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | 8 | 20.0× | 4e-07 |
| mRNA Splicing | 7 | 19.7× | 2e-06 |
| Peptide chain elongation | 6 | 19.5× | 2e-05 |
| Viral mRNA Translation | 6 | 19.5× | 2e-05 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 6 | 19.3× | 2e-05 |
| Selenocysteine synthesis | 6 | 18.5× | 2e-05 |
| Eukaryotic Translation Termination | 6 | 18.5× | 2e-05 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 6 | 18.1× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 7 | 24.9× | 2e-06 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 23.5× | 2e-04 |
| RNA splicing | 10 | 17.0× | 1e-07 |
| mRNA processing | 6 | 9.1× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
296 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 250 |
| Likely benign | 23 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2975 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:6105028:GTCAG:G | donor_gain | 1.0000 |
| 7:6105033:G:GG | donor_gain | 1.0000 |
| 7:6105033:GTA:G | donor_loss | 1.0000 |
| 7:6105034:T:A | donor_loss | 1.0000 |
| 7:6115321:A:AG | acceptor_gain | 1.0000 |
| 7:6115322:G:GG | acceptor_gain | 1.0000 |
| 7:6115524:G:GG | donor_gain | 1.0000 |
| 7:6135947:GCGGC:G | donor_gain | 1.0000 |
| 7:6135948:CGGC:C | donor_gain | 1.0000 |
| 7:6135949:GGC:G | donor_gain | 1.0000 |
| 7:6135949:GGCG:G | donor_gain | 1.0000 |
| 7:6135950:GC:G | donor_gain | 1.0000 |
| 7:6135950:GCG:G | donor_gain | 1.0000 |
| 7:6135951:CG:C | donor_loss | 1.0000 |
| 7:6135952:G:GC | donor_loss | 1.0000 |
| 7:6135952:G:GG | donor_gain | 1.0000 |
| 7:6135953:TA:T | donor_loss | 1.0000 |
| 7:6135954:A:AC | donor_loss | 1.0000 |
| 7:6135955:AGTA:A | donor_loss | 1.0000 |
| 7:6139090:A:AT | acceptor_loss | 1.0000 |
| 7:6139091:GGT:G | acceptor_gain | 1.0000 |
| 7:6139091:GGTAT:G | acceptor_gain | 1.0000 |
| 7:6139191:A:AG | donor_gain | 1.0000 |
| 7:6139192:TAA:T | donor_gain | 1.0000 |
| 7:6139193:AA:A | donor_gain | 1.0000 |
| 7:6139193:AAG:A | donor_loss | 1.0000 |
| 7:6139194:AGT:A | donor_loss | 1.0000 |
| 7:6139195:G:GG | donor_gain | 1.0000 |
| 7:6139196:TAAG:T | donor_loss | 1.0000 |
| 7:6140912:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
8682 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000050211 (7:6105024 C>G,T), RS1000050769 (7:6134194 A>G), RS1000054556 (7:6129350 G>A,C,T), RS1000066276 (7:6147797 T>C), RS1000076411 (7:6147543 C>T), RS1000076434 (7:6157994 G>A), RS1000131064 (7:6159900 G>A), RS1000150357 (7:6093453 C>G,T), RS1000195226 (7:6148104 G>A,C), RS1000198019 (7:6080370 C>A,T), RS1000209564 (7:6096658 G>A), RS1000236423 (7:6117135 A>G), RS1000240513 (7:6096441 T>C), RS1000246919 (7:6080413 T>G), RS1000248429 (7:6125020 A>G)
Disease associations
OMIM: gene MIM:620946 | 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 |
|---|---|---|
| GCST006998_2 | Cerebrospinal fluid p-tau levels in mild cognitive impairment | 9.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases methylation | 6 |
| trichostatin A | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Copper Sulfate | 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_B2KP | Abcam HeLa USP42 KO | Cancer cell line | Female |
| CVCL_XU96 | HAP1 USP42 (-) | 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.