PNO1
gene geneOn this page
Also known as RRP20
Summary
PNO1 (partner of NOB1 homolog, HGNC:32790) is a protein-coding gene on chromosome 2p14, encoding RNA-binding protein PNO1 (Q9NRX1). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a selective cancer dependency (DepMap: 88.7% of cell lines).
Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus and nucleoplasm. Part of small-subunit processome.
Source: NCBI Gene 56902 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 48 total
- Cancer dependency (DepMap): dependent in 88.7% of screened cell lines
- MANE Select transcript:
NM_020143
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32790 |
| Approved symbol | PNO1 |
| Name | partner of NOB1 homolog |
| Location | 2p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RRP20 |
| Ensembl gene | ENSG00000115946 |
| Ensembl biotype | protein_coding |
| OMIM | 618710 |
| Entrez | 56902 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000263657, ENST00000430742, ENST00000488728, ENST00000867856
RefSeq mRNA: 3 — MANE Select: NM_020143
NM_001329916, NM_001329917, NM_020143
CCDS: CCDS1885
Canonical transcript exons
ENST00000263657 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000758770 | 68158380 | 68158529 |
| ENSE00000758774 | 68162265 | 68162325 |
| ENSE00000758776 | 68162546 | 68162663 |
| ENSE00000758778 | 68173347 | 68173417 |
| ENSE00001006437 | 68157888 | 68158141 |
| ENSE00001006439 | 68174735 | 68176238 |
| ENSE00003503153 | 68161683 | 68161766 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7228 / max 233.3963, expressed in 1820 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20669 | 27.9666 | 1819 |
| 20668 | 6.7562 | 1679 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 99.92 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.90 | silver quality |
| olfactory bulb | UBERON:0002264 | 97.13 | silver quality |
| diaphragm | UBERON:0001103 | 96.48 | gold quality |
| type B pancreatic cell | CL:0000169 | 95.30 | silver quality |
| medial globus pallidus | UBERON:0002477 | 95.08 | silver quality |
| globus pallidus | UBERON:0001875 | 93.08 | silver quality |
| mucosa of urinary bladder | UBERON:0001259 | 91.46 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.45 | gold quality |
| cartilage tissue | UBERON:0002418 | 91.13 | gold quality |
| triceps brachii | UBERON:0001509 | 90.73 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.54 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 90.10 | silver quality |
| superficial temporal artery | UBERON:0001614 | 89.61 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.24 | gold quality |
| biceps brachii | UBERON:0001507 | 89.03 | gold quality |
| tendon | UBERON:0000043 | 88.93 | gold quality |
| corpus epididymis | UBERON:0004359 | 88.77 | gold quality |
| cauda epididymis | UBERON:0004360 | 88.45 | gold quality |
| pericardium | UBERON:0002407 | 87.91 | gold quality |
| male germ cell | CL:0000015 | 87.82 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 87.59 | gold quality |
| gluteal muscle | UBERON:0002000 | 87.39 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.30 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.29 | gold quality |
| cervix epithelium | UBERON:0004801 | 87.28 | gold quality |
| oral cavity | UBERON:0000167 | 87.06 | gold quality |
| fallopian tube | UBERON:0003889 | 87.03 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.00 | gold quality |
| amniotic fluid | UBERON:0000173 | 86.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting PNO1, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-3171 | 99.49 | 69.06 | 776 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-487A-5P | 98.85 | 69.37 | 993 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 88.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 11)
- A detailed characterization of PNO1 organization and its interaction with NOB1. (PMID:30176151)
- High PNO1 expression is associated with colorectal cancer. (PMID:30862720)
- Importance of PNO1 for growth and survival of urinary bladder carcinoma: Role in core-regulatory circuitry. (PMID:31800162)
- PON1 polymorphisms can predict generalized anxiety and depressed mood in patients with multiple chemical sensitivity. (PMID:33728967)
- Knockdown of PNO1 inhibits esophageal cancer progression. (PMID:33864661)
- PNO1 regulates autophagy and apoptosis of hepatocellular carcinoma via the MAPK signaling pathway. (PMID:34050137)
- Ribosome assembly factor PNO1 is associated with progression and promotes tumorigenesis in triplenegative breast cancer. (PMID:35445733)
- PNO1 inhibits autophagy-mediated ferroptosis by GSH metabolic reprogramming in hepatocellular carcinoma. (PMID:36446769)
- Inhibition of ribosome assembly factor PNO1 by CRISPR/Cas9 technique suppresses lung adenocarcinoma and Notch pathway: Clinical application. (PMID:36625087)
- Partner of NOB1 homolog transcriptionally activated by E2F transcription factor 1 promotes the malignant progression and inhibits ferroptosis of pancreatic cancer. (PMID:37929351)
- PNO1 promotes the progression of osteosarcoma via TGF-beta and YAP/TAZ pathway. (PMID:38071381)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pno1 | ENSDARG00000008502 |
| mus_musculus | Pno1 | ENSMUSG00000020116 |
| rattus_norvegicus | Pno1 | ENSRNOG00000005524 |
| rattus_norvegicus | ENSRNOG00000066543 | |
| drosophila_melanogaster | l(1)G0004 | FBGN0027334 |
| caenorhabditis_elegans | WBGENE00013144 |
Protein
Protein identifiers
RNA-binding protein PNO1 — Q9NRX1 (reviewed: Q9NRX1)
Alternative names: Partner of NOB1
All UniProt accessions (2): Q9NRX1, F8WBJ6
UniProt curated annotations — full annotation on UniProt →
Function. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3’-end of 18S rRNA.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed in liver, lung, spleen and kidney. Weakly expressed in thymus, testis and ovary. Weakly or not expressed in heart, brain, skeletal muscle, placenta, pancreas, prostate, small intestine, colon and peripheral blood leukocytes.
Similarity. Belongs to the PNO1 family.
RefSeq proteins (3): NP_001316845, NP_001316846, NP_064528* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004087 | KH_dom | Domain |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
| IPR055211 | KH_PNO1_2nd | Domain |
| IPR055212 | KH-I_PNO1_first | Domain |
Pfam: PF22891
UniProt features (29 total): helix 12, strand 7, turn 2, compositionally biased region 2, sequence variant 2, chain 1, domain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
22 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 6ZXE | ELECTRON MICROSCOPY | 3 |
| 7WTU | ELECTRON MICROSCOPY | 3 |
| 7WTZ | ELECTRON MICROSCOPY | 3 |
| 6ZUO | ELECTRON MICROSCOPY | 3.1 |
| 7WTT | ELECTRON MICROSCOPY | 3.1 |
| 7WTX | ELECTRON MICROSCOPY | 3.1 |
| 6ZXD | ELECTRON MICROSCOPY | 3.2 |
| 7WTS | ELECTRON MICROSCOPY | 3.2 |
| 7WTW | ELECTRON MICROSCOPY | 3.2 |
| 7WU0 | ELECTRON MICROSCOPY | 3.3 |
| 6G5I | ELECTRON MICROSCOPY | 3.5 |
| 7WTV | ELECTRON MICROSCOPY | 3.5 |
| 6G18 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 8ZDD | ELECTRON MICROSCOPY | 3.7 |
| 8ZDC | ELECTRON MICROSCOPY | 3.8 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
| 6G4S | ELECTRON MICROSCOPY | 4 |
| 6G51 | ELECTRON MICROSCOPY | 4.1 |
| 6G4W | ELECTRON MICROSCOPY | 4.5 |
| 6G53 | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRX1-F1 | 77.91 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 231 (showing top):
ELVIDGE_HYPOXIA_DN, GOBP_RIBOSOME_BIOGENESIS, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, chr2p14, GOBP_MATURATION_OF_SSU_RRNA, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, SCHUHMACHER_MYC_TARGETS_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GENTILE_UV_HIGH_DOSE_DN, GENTILE_UV_RESPONSE_CLUSTER_D5, GARY_CD5_TARGETS_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP
GO Biological Process (1): ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), small-subunit processome (GO:0032040)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
2113 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PNO1 | NOB1 | Q9ULX3 | 946 |
| PNO1 | LTV1 | Q96GA3 | 916 |
| PNO1 | BYSL | Q13895 | 905 |
| PNO1 | RIOK2 | Q9BVS4 | 902 |
| PNO1 | TSR1 | Q2NL82 | 883 |
| PNO1 | RIOK1 | Q9BRS2 | 832 |
| PNO1 | RRP12 | Q5JTH9 | 822 |
| PNO1 | RCL1 | Q9Y2P8 | 764 |
| PNO1 | BMS1 | Q14692 | 738 |
| PNO1 | NOP14 | P78316 | 735 |
| PNO1 | UTP20 | O75691 | 717 |
| PNO1 | UTP14A | Q9BVJ6 | 704 |
| PNO1 | NAT10 | Q9H0A0 | 658 |
| PNO1 | RSL1D1 | O76021 | 638 |
| PNO1 | KRR1 | Q13601 | 617 |
IntAct
95 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PNO1 | NOB1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RIOK1 | PRMT5 | psi-mi:“MI:0914”(association) | 0.710 |
| PICK1 | PNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNO1 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UTP14A | DHX37 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| PNO1 | HNRNPA1L2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PNO1 | HNRNPA2B1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PNO1 | HNRNPA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CSNK1E | PNO1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PNO1 | FRZB | psi-mi:“MI:0915”(physical association) | 0.370 |
| PNO1 | PDPK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Naa50 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Gspt1 | MRPL27 | psi-mi:“MI:0914”(association) | 0.350 |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | ALYREF | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 | |
| MYC | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| NPM1 | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| Eif3e | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (175): PNO1 (Affinity Capture-MS), PNO1 (Affinity Capture-MS), PNO1 (Affinity Capture-MS), COMTD1 (Affinity Capture-MS), UTP14A (Affinity Capture-MS), UTP14C (Affinity Capture-MS), MTMR3 (Affinity Capture-MS), NOB1 (Affinity Capture-MS), PNO1 (Affinity Capture-MS), CSNK1E (Co-fractionation), LRRC47 (Co-fractionation), NOB1 (Co-fractionation), NOC3L (Co-fractionation), PNO1 (Co-fractionation), PNO1 (Co-fractionation)
ESM2 similar proteins: A3RCV9, B8ARK7, O45551, O60341, O61955, O74743, P07260, P08487, P10686, P19174, P41229, P41230, P48598, P49870, P56570, P78954, P98150, Q09305, Q10NQ9, Q21693, Q22888, Q2NKY8, Q38JA7, Q5BJI6, Q5BJS0, Q5R607, Q5XI06, Q5ZI74, Q62077, Q6DCK1, Q6YYZ1, Q6Z690, Q6ZQ88, Q75AV8, Q7L2E3, Q7M753, Q7XKC0, Q7XWV4, Q80Y84, Q8LI34
Diamond homologs: A7RP64, G0S3T2, O14044, O18216, P0CO46, P0CO47, Q0UWT7, Q1DQZ5, Q29IG6, Q2UMG1, Q4IN63, Q4PMC9, Q4WNG7, Q54K66, Q57885, Q5ACM4, Q5B0Z5, Q5F414, Q626C1, Q6BJ75, Q6C7G0, Q6CUA5, Q6DDB9, Q6FMB3, Q6VBQ6, Q6VBQ8, Q6VEU3, Q753C6, Q7YRD0, Q8AVH4, Q99216, Q9CPS7, Q9NRX1, Q9VR89, A0A0H3NM73, A0PQE7, A0QVQ5, A1AG69, A1KMC6, A2RGH2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 110 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 |
|---|---|---|---|
| SARS-CoV-1 modulates host translation machinery | 6 | 25.4× | 8e-06 |
| Eukaryotic Translation Initiation | 5 | 21.1× | 1e-04 |
| Cap-dependent Translation Initiation | 5 | 21.1× | 1e-04 |
| rRNA modification in the nucleus and cytosol | 8 | 20.5× | 4e-07 |
| rRNA processing in the nucleus and cytosol | 9 | 19.8× | 9e-08 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 23 | 19.4× | 2e-21 |
| Eukaryotic Translation Elongation | 5 | 19.1× | 2e-04 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 5 | 18.6× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 7 | 50.7× | 1e-08 |
| ribosomal small subunit biogenesis | 11 | 26.9× | 2e-10 |
| rRNA processing | 11 | 16.8× | 1e-08 |
| mRNA export from nucleus | 5 | 15.9× | 2e-03 |
| cytoplasmic translation | 7 | 13.9× | 1e-04 |
| translation | 7 | 7.7× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1170 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:68158051:A:T | donor_gain | 1.0000 |
| 2:68158085:G:GT | donor_gain | 1.0000 |
| 2:68158491:A:G | donor_gain | 1.0000 |
| 2:68158514:G:GT | donor_gain | 1.0000 |
| 2:68158515:A:T | donor_gain | 1.0000 |
| 2:68158525:TCAGG:T | donor_gain | 1.0000 |
| 2:68158528:GG:G | donor_gain | 1.0000 |
| 2:68158529:GG:G | donor_gain | 1.0000 |
| 2:68158530:G:C | donor_loss | 1.0000 |
| 2:68158530:G:GG | donor_gain | 1.0000 |
| 2:68158531:T:A | donor_loss | 1.0000 |
| 2:68161679:ACAG:A | acceptor_loss | 1.0000 |
| 2:68161680:CA:C | acceptor_loss | 1.0000 |
| 2:68161681:A:AG | acceptor_gain | 1.0000 |
| 2:68161682:G:GT | acceptor_gain | 1.0000 |
| 2:68161682:GA:G | acceptor_gain | 1.0000 |
| 2:68161682:GAC:G | acceptor_gain | 1.0000 |
| 2:68161682:GACT:G | acceptor_gain | 1.0000 |
| 2:68161682:GACTT:G | acceptor_gain | 1.0000 |
| 2:68161766:GGTG:G | donor_loss | 1.0000 |
| 2:68161767:G:GG | donor_gain | 1.0000 |
| 2:68161768:T:A | donor_loss | 1.0000 |
| 2:68162322:GATG:G | donor_gain | 1.0000 |
| 2:68162544:A:AG | acceptor_gain | 1.0000 |
| 2:68162545:G:GA | acceptor_gain | 1.0000 |
| 2:68162545:GTT:G | acceptor_gain | 1.0000 |
| 2:68162545:GTTA:G | acceptor_gain | 1.0000 |
| 2:68162545:GTTAA:G | acceptor_gain | 1.0000 |
| 2:68162659:GATGT:G | donor_gain | 1.0000 |
| 2:68162660:ATGT:A | donor_gain | 1.0000 |
AlphaMissense
1647 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:68158411:T:A | V80D | 1.000 |
| 2:68158423:G:C | R84T | 1.000 |
| 2:68158424:A:C | R84S | 1.000 |
| 2:68158424:A:T | R84S | 1.000 |
| 2:68158435:T:C | L88S | 1.000 |
| 2:68158446:T:A | W92R | 1.000 |
| 2:68158446:T:C | W92R | 1.000 |
| 2:68158448:G:C | W92C | 1.000 |
| 2:68158448:G:T | W92C | 1.000 |
| 2:68161752:G:C | G143R | 1.000 |
| 2:68161753:G:A | G143D | 1.000 |
| 2:68161753:G:T | G143V | 1.000 |
| 2:68161755:T:C | F144L | 1.000 |
| 2:68161756:T:C | F144S | 1.000 |
| 2:68161757:T:A | F144L | 1.000 |
| 2:68161757:T:G | F144L | 1.000 |
| 2:68162268:G:C | A149P | 1.000 |
| 2:68162269:C:A | A149E | 1.000 |
| 2:68162275:C:A | A151D | 1.000 |
| 2:68162284:G:T | R154M | 1.000 |
| 2:68162310:T:C | F163L | 1.000 |
| 2:68162311:T:C | F163S | 1.000 |
| 2:68162312:T:A | F163L | 1.000 |
| 2:68162312:T:G | F163L | 1.000 |
| 2:68162546:T:A | V168D | 1.000 |
| 2:68162550:A:C | K169N | 1.000 |
| 2:68162550:A:T | K169N | 1.000 |
| 2:68162576:G:C | R178T | 1.000 |
| 2:68162576:G:T | R178M | 1.000 |
| 2:68162577:G:C | R178S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000084481 (2:68165228 G>A), RS1000115082 (2:68163040 C>A), RS1000372833 (2:68157296 C>A,T), RS1001070748 (2:68170679 C>T), RS1001127133 (2:68164295 G>T), RS1001317224 (2:68158590 G>A), RS1001368711 (2:68164013 A>G), RS1001645567 (2:68155997 G>A), RS1001735574 (2:68168131 G>A), RS1001789105 (2:68161407 G>A,C), RS1001865826 (2:68159649 C>T), RS1001991512 (2:68156222 C>T), RS1002042261 (2:68164457 C>T), RS1002078467 (2:68168410 G>C), RS1002354939 (2:68167733 T>A,C)
Disease associations
OMIM: gene MIM:618710 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Air Pollutants | increases abundance, increases oxidation, increases expression, affects cotreatment | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | increases expression, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| cylindrospermopsin | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | decreases expression, increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Bexarotene | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Estrogens | decreases reaction, increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases 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.