UCKL1
gene geneOn this page
Also known as FLJ20517
Summary
UCKL1 (uridine-cytidine kinase 1 like 1, HGNC:15938) is a protein-coding gene on chromosome 20q13.33, encoding Uridine-cytidine kinase-like 1 (Q9NWZ5). May contribute to UTP accumulation needed for blast transformation and proliferation.
The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 54963 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_017859
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15938 |
| Approved symbol | UCKL1 |
| Name | uridine-cytidine kinase 1 like 1 |
| Location | 20q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20517 |
| Ensembl gene | ENSG00000198276 |
| Ensembl biotype | protein_coding |
| OMIM | 610866 |
| Entrez | 54963 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 28 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000354216, ENST00000358711, ENST00000369908, ENST00000430743, ENST00000483710, ENST00000492660, ENST00000632800, ENST00000883267, ENST00000883268, ENST00000883269, ENST00000883270, ENST00000883271, ENST00000883272, ENST00000929520, ENST00000969433, ENST00000969434, ENST00000969435, ENST00000969436, ENST00000969437, ENST00000969438, ENST00000969439, ENST00000969440, ENST00000969441, ENST00000969442, ENST00000969443, ENST00000969444, ENST00000969445, ENST00000969446, ENST00000969447, ENST00000969448, ENST00000969449, ENST00000969450
RefSeq mRNA: 10 — MANE Select: NM_017859
NM_001193379, NM_001353475, NM_001353476, NM_001353477, NM_001353478, NM_001353479, NM_001353480, NM_001353481, NM_001353482, NM_017859
CCDS: CCDS13547, CCDS54479
Canonical transcript exons
ENST00000354216 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001615069 | 63945651 | 63945722 |
| ENSE00001649738 | 63945805 | 63945975 |
| ENSE00001650820 | 63941110 | 63941208 |
| ENSE00001668832 | 63940950 | 63941043 |
| ENSE00001690722 | 63944397 | 63944458 |
| ENSE00001698704 | 63946161 | 63946267 |
| ENSE00001714445 | 63939829 | 63940055 |
| ENSE00001736183 | 63944545 | 63944734 |
| ENSE00001896489 | 63956260 | 63956416 |
| ENSE00002528595 | 63943653 | 63943669 |
| ENSE00003467914 | 63940594 | 63940716 |
| ENSE00003553144 | 63946453 | 63946643 |
| ENSE00003572640 | 63940794 | 63940856 |
| ENSE00003625950 | 63940150 | 63940306 |
| ENSE00003786313 | 63940378 | 63940485 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 98.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7884 / max 208.5998, expressed in 1812 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188435 | 29.3092 | 1809 |
| 188436 | 0.9996 | 614 |
| 188427 | 0.2139 | 104 |
| 188431 | 0.1194 | 30 |
| 188432 | 0.0531 | 24 |
| 188433 | 0.0395 | 20 |
| 188430 | 0.0348 | 12 |
| 188434 | 0.0188 | 8 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.25 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.00 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.72 | gold quality |
| right uterine tube | UBERON:0001302 | 97.37 | gold quality |
| apex of heart | UBERON:0002098 | 97.34 | gold quality |
| left ovary | UBERON:0002119 | 97.32 | gold quality |
| right ovary | UBERON:0002118 | 97.15 | gold quality |
| cerebellum | UBERON:0002037 | 96.46 | gold quality |
| endocervix | UBERON:0000458 | 96.45 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.44 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.29 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.28 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.22 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.17 | gold quality |
| ectocervix | UBERON:0012249 | 96.07 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.05 | gold quality |
| body of uterus | UBERON:0009853 | 95.98 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.89 | gold quality |
| tibial nerve | UBERON:0001323 | 95.84 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.82 | gold quality |
| left uterine tube | UBERON:0001303 | 95.81 | gold quality |
| transverse colon | UBERON:0001157 | 95.71 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.62 | gold quality |
| pituitary gland | UBERON:0000007 | 95.42 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.28 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.21 | gold quality |
| lower esophagus | UBERON:0013473 | 95.15 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.15 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.13 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.86 |
| E-GEOD-110499 | no | 244.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting UCKL1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-628-3P | 99.04 | 68.37 | 814 |
| HSA-MIR-153-3P | 98.96 | 72.51 | 1644 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
Literature-anchored findings (GeneRIF, showing 3)
- These results indicate a role for UCKL-1 in tumor cell survival. (PMID:19653100)
- The presence of IL28B rs8099917 TT and rs12979860 CC SNPs, but not the intensity of UCKL-1 expression, is strongly associated with increased chances of Hepatocellular Carcinoma development in hepatitis C virus -positive cirrhotic patients. (PMID:30344298)
- Characterization of uridine-cytidine kinase like-1 nucleoside kinase activity and its role in tumor growth. (PMID:35583288)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | uckl1a | ENSDARG00000001686 |
| danio_rerio | uckl1b | ENSDARG00000078973 |
| mus_musculus | Uckl1 | ENSMUSG00000089917 |
| rattus_norvegicus | Uckl1 | ENSRNOG00000050277 |
| drosophila_melanogaster | l(2)k01209 | FBGN0022029 |
Paralogs (3): UPRT (ENSG00000094841), UCK1 (ENSG00000130717), UCK2 (ENSG00000143179)
Protein
Protein identifiers
Uridine-cytidine kinase-like 1 — Q9NWZ5 (reviewed: Q9NWZ5)
All UniProt accessions (2): Q9NWZ5, Q5JWV1
UniProt curated annotations — full annotation on UniProt →
Function. May contribute to UTP accumulation needed for blast transformation and proliferation.
Subunit / interactions. Interacts with RNF19B. (Microbial infection) Interacts with Epstein-Barr virus/EBV EBNA3.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitous.
Post-translational modifications. Ubiquitinated by RNF19B; which induces proteasomal degradation.
Pathway. Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.
Similarity. Belongs to the uridine kinase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NWZ5-1 | 1 | yes |
| Q9NWZ5-2 | 2 | |
| Q9NWZ5-3 | 3 | |
| Q9NWZ5-4 | 4 |
RefSeq proteins (10): NP_001180308, NP_001340404, NP_001340405, NP_001340406, NP_001340407, NP_001340408, NP_001340409, NP_001340410, NP_001340411, NP_060329* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000764 | Uridine_kinase-like | Family |
| IPR000836 | PRTase_dom | Domain |
| IPR006083 | PRK/URK | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR029057 | PRTase-like | Homologous_superfamily |
Pfam: PF00485, PF14681
Enzyme classification (BRENDA):
- EC 2.7.1.48 — uridine/cytidine kinase (BRENDA: 11 organisms, 140 substrates, 53 inhibitors, 88 Km, 32 kcat entries)
Substrate kinetics (BRENDA)
7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CYTIDINE | 0.023–4 | 38 |
| URIDINE | 0.04–11.5 | 31 |
| ATP | 0.062–5 | 10 |
| 5-FLUOROURIDINE | 0.03–0.069 | 2 |
| 3-DEAZAURIDINE | 0.2 | 1 |
| 5-AZACYTIDINE | 11 | 1 |
| 6-AZAURIDINE | 0.34 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- uridine + ATP = UMP + ADP + H(+) (RHEA:16825)
- cytidine + ATP = CMP + ADP + H(+) (RHEA:24674)
UniProt features (14 total): splice variant 4, modified residue 4, compositionally biased region 2, chain 1, region of interest 1, sequence conflict 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWZ5-F1 | 81.24 | 0.60 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 105–112
Post-translational modifications (4): 16, 56, 63, 539
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-73614 | Pyrimidine salvage |
MSigDB gene sets: 162 (showing top):
RNGTGGGC_UNKNOWN, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, AACWWCAANK_UNKNOWN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, EVI1_05, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS
GO Biological Process (8): pyrimidine nucleoside salvage (GO:0043097), UMP salvage (GO:0044206), CTP salvage (GO:0044211), pyrimidine-containing compound salvage (GO:0008655), CMP biosynthetic process (GO:0009224), nucleobase-containing compound biosynthetic process (GO:0034654), nucleobase-containing small molecule metabolic process (GO:0055086), carbohydrate derivative biosynthetic process (GO:1901137)
GO Molecular Function (7): uridine kinase activity (GO:0004849), ATP binding (GO:0005524), cytidine kinase activity (GO:0043771), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Nucleotide salvage | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| UMP biosynthetic process | 2 |
| pyrimidine ribonucleotide salvage | 2 |
| nucleobase-containing compound metabolic process | 2 |
| biosynthetic process | 2 |
| nucleoside kinase activity | 2 |
| cellular anatomical structure | 2 |
| pyrimidine-containing compound salvage | 1 |
| nucleoside salvage | 1 |
| pyrimidine nucleoside biosynthetic process | 1 |
| CTP biosynthetic process | 1 |
| metabolic compound salvage | 1 |
| pyrimidine-containing compound biosynthetic process | 1 |
| pyrimidine ribonucleoside monophosphate biosynthetic process | 1 |
| pyrimidine ribonucleotide biosynthetic process | 1 |
| CMP metabolic process | 1 |
| small molecule metabolic process | 1 |
| carbohydrate derivative metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| CMP biosynthetic process | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2184 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UCKL1 | RNF19B | Q6ZMZ0 | 938 |
| UCKL1 | UPP2 | O95045 | 829 |
| UCKL1 | UPP1 | Q16831 | 815 |
| UCKL1 | UMPS | P11172 | 811 |
| UCKL1 | RNF19A | Q9NV58 | 695 |
| UCKL1 | TYMS | P04818 | 626 |
| UCKL1 | TK2 | O00142 | 608 |
| UCKL1 | TYMP | P19971 | 591 |
| UCKL1 | UBE2L6 | O14933 | 582 |
| UCKL1 | DPYD | Q12882 | 571 |
| UCKL1 | CDA | P32320 | 535 |
| UCKL1 | DTYMK | P23919 | 514 |
| UCKL1 | CTPS2 | Q9NRF8 | 512 |
| UCKL1 | CMPK1 | P30085 | 506 |
| UCKL1 | CTPS1 | P17812 | 486 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| MPPED1 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| UCKL1 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.600 |
| RNF19B | UCKL1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| UCKL1 | RNF19B | psi-mi:“MI:0403”(colocalization) | 0.600 |
| EBNA3 | UCKL1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| UCKL1 | EBNA3 | psi-mi:“MI:0915”(physical association) | 0.540 |
| EBNA3 | UCKL1 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| KAT5 | YEATS4 | psi-mi:“MI:0914”(association) | 0.530 |
| UPRT | SERPINB4 | psi-mi:“MI:0914”(association) | 0.530 |
| UCK2 | IAH1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| UPRT | UCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| UCKL1 | CCR8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| METTL3 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD70 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| VWA5A | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (68): UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), BCS1L (Co-fractionation), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-MS), UCKL1 (Affinity Capture-RNA)
ESM2 similar proteins: A0A0J9UVG7, A0A250YGJ5, A0A2K5TU92, A8NWP2, A9UVV1, B0X4N8, B2RZ55, C8V3W5, E1BRE2, E2RDZ6, E9GD30, F4P804, F7DKV7, F7EZ75, J4W6X9, P16081, P17571, P22944, P27967, P27968, P27969, P36842, P38681, P43100, P49102, P59941, Q0P595, Q0UI56, Q1JQC6, Q3ZBQ0, Q4PEJ3, Q5AW69, Q5HZN8, Q5R6G3, Q5RBF1, Q5RJQ4, Q68FX9, Q6DHI5, Q7ZVK3, Q8BKJ9
Diamond homologs: A0ALM3, A2RG73, A3CPK9, A4VWM9, A5H0J4, A5IE48, A5N3J1, A5VIQ0, A5VVW9, A6UET4, A8AYQ0, A8FIC0, A9KIB0, A9MCZ3, A9WW75, B0K1G2, B0K7G1, B1AVZ0, B2G680, B2GAT5, B2SC51, B2U8Z0, B3PXN0, B3WDL1, B5XJZ7, B5YDB8, B5ZXI2, B6IW12, B7GMG3, B8DBH1, B8E009, B9DX75, B9J6V7, C0RMK4, C0Z818, C1KYV5, C3MBH2, C4Z9S1, C5D9M4, O13867
SIGNOR signaling
7 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RNF19B | “down-regulates quantity by destabilization” | UCKL1 | ubiquitination |
| UCKL1 | “down-regulates quantity” | ATP(4-) | “chemical modification” |
| UCKL1 | “up-regulates quantity” | ADP(3-) | “chemical modification” |
| UCKL1 | “down-regulates quantity” | cytidine | “chemical modification” |
| UCKL1 | “up-regulates quantity” | “cytidine 5’-monophosphate(2-)” | “chemical modification” |
| UCKL1 | “down-regulates quantity” | uridine | “chemical modification” |
| UCKL1 | “up-regulates quantity” | “uridine 5’-monophosphate(2-)” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 2 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3068 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:63940266:A:T | acceptor_gain | 1.0000 |
| 20:63940372:A:AC | donor_gain | 1.0000 |
| 20:63940373:C:CC | donor_gain | 1.0000 |
| 20:63940375:CA:C | donor_loss | 1.0000 |
| 20:63940376:A:AC | donor_gain | 1.0000 |
| 20:63940376:AC:A | donor_gain | 1.0000 |
| 20:63940377:C:CC | donor_gain | 1.0000 |
| 20:63940377:CC:C | donor_gain | 1.0000 |
| 20:63940377:CCAGG:C | donor_gain | 1.0000 |
| 20:63940481:TGGAG:T | acceptor_gain | 1.0000 |
| 20:63940482:GGAG:G | acceptor_gain | 1.0000 |
| 20:63940483:GAG:G | acceptor_gain | 1.0000 |
| 20:63940483:GAGC:G | acceptor_loss | 1.0000 |
| 20:63940484:AG:A | acceptor_gain | 1.0000 |
| 20:63940484:AGC:A | acceptor_loss | 1.0000 |
| 20:63940486:C:CC | acceptor_gain | 1.0000 |
| 20:63940486:CT:C | acceptor_loss | 1.0000 |
| 20:63940602:C:CA | donor_gain | 1.0000 |
| 20:63940603:C:A | donor_gain | 1.0000 |
| 20:63940690:G:T | acceptor_gain | 1.0000 |
| 20:63940948:ACC:A | donor_loss | 1.0000 |
| 20:63940949:C:CT | donor_loss | 1.0000 |
| 20:63941204:CAGCC:C | acceptor_gain | 1.0000 |
| 20:63941205:AGCC:A | acceptor_gain | 1.0000 |
| 20:63941206:GCC:G | acceptor_gain | 1.0000 |
| 20:63941207:CC:C | acceptor_gain | 1.0000 |
| 20:63941207:CCC:C | acceptor_gain | 1.0000 |
| 20:63941208:CC:C | acceptor_gain | 1.0000 |
| 20:63941208:CCTGG:C | acceptor_loss | 1.0000 |
| 20:63941209:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3601 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:63940033:A:C | F530L | 1.000 |
| 20:63940033:A:T | F530L | 1.000 |
| 20:63940035:A:G | F530L | 1.000 |
| 20:63940395:C:G | A465P | 1.000 |
| 20:63940484:A:G | L435P | 1.000 |
| 20:63940628:A:G | L423P | 1.000 |
| 20:63940996:A:G | L357P | 1.000 |
| 20:63941010:G:C | F352L | 1.000 |
| 20:63941010:G:T | F352L | 1.000 |
| 20:63941012:A:G | F352L | 1.000 |
| 20:63941017:A:G | F350S | 1.000 |
| 20:63941110:C:A | R341M | 1.000 |
| 20:63944431:A:G | L291P | 1.000 |
| 20:63944553:A:T | V279D | 1.000 |
| 20:63944676:A:G | L238P | 1.000 |
| 20:63945686:C:G | G207R | 1.000 |
| 20:63945872:A:G | L172P | 1.000 |
| 20:63946498:A:G | W87R | 1.000 |
| 20:63946498:A:T | W87R | 1.000 |
| 20:63940035:A:T | F530I | 0.999 |
| 20:63940038:A:C | Y529D | 0.999 |
| 20:63940040:C:G | R528P | 0.999 |
| 20:63940041:G:T | R528S | 0.999 |
| 20:63940048:A:C | F525L | 0.999 |
| 20:63940048:A:T | F525L | 0.999 |
| 20:63940050:A:G | F525L | 0.999 |
| 20:63940155:C:T | G521D | 0.999 |
| 20:63940156:C:G | G521R | 0.999 |
| 20:63940198:C:G | A507P | 0.999 |
| 20:63940223:A:C | F498L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000047260 (20:63945156 C>T), RS1000112354 (20:63954094 C>T), RS1000147204 (20:63947333 C>T), RS1000147518 (20:63943090 T>C), RS1000157374 (20:63943255 G>A,C,T), RS1000184544 (20:63955235 G>C), RS1000246414 (20:63951828 C>T), RS1000467124 (20:63954440 TGGAACGGTGGTGGA>T), RS1000485498 (20:63941717 C>G), RS1000495390 (20:63941895 A>G), RS1000528264 (20:63954268 C>T), RS1000711236 (20:63942903 G>T), RS1000771301 (20:63944035 G>A), RS1000844581 (20:63949333 C>T), RS1000988209 (20:63949664 G>C)
Disease associations
OMIM: gene MIM:610866 | 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 |
|---|---|---|
| GCST001942_22 | Prostate cancer | 4.000000e-16 |
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 |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, decreases methylation | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| obeticholic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Toluene | decreases methylation, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
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.