PRR11
gene geneOn this page
Also known as FLJ11029
Summary
PRR11 (proline rich 11, HGNC:25619) is a protein-coding gene on chromosome 17q22, encoding Proline-rich protein 11 (Q96HE9). Plays a critical role in cell cycle progression.
Involved in regulation of cell cycle. Located in cytoplasm and nucleus.
Source: NCBI Gene 55771 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 64 total
- MANE Select transcript:
NM_018304
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25619 |
| Approved symbol | PRR11 |
| Name | proline rich 11 |
| Location | 17q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11029 |
| Ensembl gene | ENSG00000068489 |
| Ensembl biotype | protein_coding |
| OMIM | 615920 |
| Entrez | 55771 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000262293, ENST00000577457, ENST00000578542, ENST00000578777, ENST00000580177, ENST00000581182, ENST00000582004, ENST00000582995, ENST00000614081
RefSeq mRNA: 1 — MANE Select: NM_018304
NM_018304
CCDS: CCDS11614
Canonical transcript exons
ENST00000262293 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000739668 | 59185440 | 59185562 |
| ENSE00001113052 | 59197544 | 59197603 |
| ENSE00001113053 | 59194757 | 59194855 |
| ENSE00001113061 | 59195331 | 59195443 |
| ENSE00001325603 | 59201563 | 59206709 |
| ENSE00001329233 | 59193492 | 59193734 |
| ENSE00001329988 | 59185054 | 59185204 |
| ENSE00003482503 | 59197693 | 59197789 |
| ENSE00003526782 | 59169748 | 59169880 |
| ENSE00003901017 | 59155746 | 59155805 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 99.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5758 / max 227.4910, expressed in 1644 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161947 | 18.7574 | 1481 |
| 161946 | 2.6526 | 1065 |
| 161945 | 1.8578 | 959 |
| 161944 | 0.3079 | 174 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.90 | gold quality |
| renal medulla | UBERON:0000362 | 99.78 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.75 | gold quality |
| pylorus | UBERON:0001166 | 99.71 | gold quality |
| nipple | UBERON:0002030 | 99.69 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.69 | gold quality |
| buccal mucosa cell | CL:0002336 | 99.67 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.67 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.67 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.62 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.61 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 99.57 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.56 | gold quality |
| sperm | CL:0000019 | 99.55 | gold quality |
| visceral pleura | UBERON:0002401 | 99.46 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.45 | gold quality |
| pericardium | UBERON:0002407 | 99.45 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.40 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.39 | gold quality |
| pons | UBERON:0000988 | 99.38 | gold quality |
| saphenous vein | UBERON:0007318 | 99.36 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.33 | gold quality |
| urethra | UBERON:0000057 | 99.32 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 99.31 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.20 | gold quality |
| penis | UBERON:0000989 | 99.19 | gold quality |
| body of tongue | UBERON:0011876 | 99.19 | gold quality |
| synovial joint | UBERON:0002217 | 99.11 | gold quality |
| parietal pleura | UBERON:0002400 | 99.11 | gold quality |
| male germ cell | CL:0000015 | 99.09 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7051 | yes | 571.38 |
| E-GEOD-99795 | yes | 76.54 |
| E-MTAB-6678 | yes | 9.63 |
| E-ANND-3 | yes | 5.91 |
| E-CURD-53 | no | 567.84 |
| E-MTAB-8559 | no | 432.56 |
| E-MTAB-8205 | no | 239.96 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
221 targeting PRR11, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| 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-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| 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 |
Literature-anchored findings (GeneRIF, showing 28)
- the apparent occurrence of an unusual TG 3’ splice site in intron 10 is discussed (PMID:17672918)
- our results strongly demonstrated that this newly identified gene, PRR11, had a critical role in both cell cycle progression and tumorigenesis, and might serve as a novel potential target in the diagnosis and/or treatment of human lung cancer. (PMID:23246489)
- Overexpression of PRR11 inhibits cell proliferation and induces premature chromatin condensation. (PMID:25666944)
- Microarray analysis revealed that several genes involved in cell proliferation, cell adhesion, and cell migration were altered in PRR11-knockout cells. (PMID:25971332)
- Targeted depletion of PRR11 caused a dramatic cell cycle arrest followed by massive apoptotic cell death, and eventually resulted in a significant decrease in growth and viability in lung cancer cell lines. (PMID:25973065)
- PRR11-SKA2 bidirectional transcription unit, which is a novel direct target of NF-Y, is essential for the accelerated proliferation and motility of lung cancer cells (PMID:26162986)
- PRR11 may be widely activated in human gastric cancer. (PMID:26252227)
- p53 negatively regulates the expression of the PRR11-SKA2 bidirectional transcription unit through NF-Y, suggesting that the inability to repress the PRR11-SKA2 bidirectional transcription unit after loss of p53 might contribute to tumorigenesis. (PMID:28257042)
- these findings indicated that miR-144-3p induced cell cycle arrest and apoptosis in pancreatic cancer by targeting PRR11. (PMID:28574724)
- these findings further illustrate the suppressive role of miR-195 in prostate cancer (PCa), and indicate a novel role of PRR11 in PCa. Importantly, the newly identified miR-195/PRR11 axis may aid with identifying potential therapeutic targets in PCa. (PMID:29393495)
- PRR11 regulated self-renewal and tumorigenicity of gastric cancer stem cells through MAPK signaling, and could be used as a therapeutic target for gastric cancer. (PMID:30007956)
- PRR11 positively regulated cell proliferation-related proteins, including c-myc and cyclin D1, and increased and decreased the expression of matrix metalloproteinase 2 and tissue inhibitor of metalloproteinase 2 and PRR11 expression was mediated by the phosphoinositide 3-kinase/AKT/beta-catenin signaling pathway. (PMID:30165366)
- PRR11 plays an oncogenic role in hepatocellular carcinoma (HCC) progression, through activating the Wnt/beta-catenin signaling pathway, and may represent a valuable prognostic marker and therapeutic target for HCC. (PMID:30248355)
- Knockdown of DLX6-AS1 inhibited cell proliferation, migration, invasion and promoted apoptosis by downregulating PRR11 expression and upregulating miR-144 in NSCLC. (PMID:30551440)
- MicroRNA-211-5p promotes apoptosis and inhibits the migration of osteosarcoma cells by targeting proline-rich protein PRR11. (PMID:31075210)
- Proline-rich 11 (PRR11) drives F-actin assembly by recruiting the actin-related protein 2/3 complex in human non-small cell lung carcinoma. (PMID:32169900)
- Proline rich 11 (PRR11) overexpression amplifies PI3K signaling and promotes antiestrogen resistance in breast cancer. (PMID:33127913)
- HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional Transcription Unit in Lung Squamous Cell Carcinomas. (PMID:33477943)
- PRR11 unveiled as a top candidate biomarker within the RBM3-regulated transcriptome in pancreatic cancer. (PMID:34379360)
- MicroRNA-26b-5p suppresses the proliferation of tongue squamous cell carcinoma via targeting proline rich 11 (PRR11). (PMID:34488538)
- PRR11 promotes ccRCC tumorigenesis by regulating E2F1 stability. (PMID:34499617)
- PRR11 Promotes Proliferation and Migration of Colorectal Cancer through Activating the EGFR/ERK/AKT Pathway via Increasing CTHRC1. (PMID:35181621)
- Proline-rich 11 (PRR11) promotes the progression of cutaneous squamous cell carcinoma by activating the EGFR signaling pathway. (PMID:36727626)
- Clinical significance and effect of PRR 11 up-regulation on the malignancy of osteosarcoma. (PMID:36734441)
- PRR11 is a prognostic biomarker and correlates with immune infiltrates in bladder urothelial carcinoma. (PMID:36739300)
- Predictive significance of PRR11 in prognosis and immune infiltration of glioma patients. (PMID:37036189)
- ELF1/PRR11/ARP2/3 promoted trophoblast cells proliferation and motility in early pregnancy. (PMID:37641376)
- Prognostic value of PRR11 and immune cell infiltration in Ewing sarcoma. (PMID:38427643)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prr11 | ENSDARG00000087393 |
| mus_musculus | Prr11 | ENSMUSG00000020493 |
| rattus_norvegicus | Prr11 | ENSRNOG00000006198 |
Paralogs (2): JMY (ENSG00000152409), WHAMM (ENSG00000156232)
Protein
Protein identifiers
Proline-rich protein 11 — Q96HE9 (reviewed: Q96HE9)
All UniProt accessions (6): Q96HE9, D2SNZ4, J3QKY4, J3QQS2, J3QR53, J3QRV0
UniProt curated annotations — full annotation on UniProt →
Function. Plays a critical role in cell cycle progression.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitously expressed.
Post-translational modifications. Ubiquitinated. Rapidly degraded by the proteasome; degradation may involve FBXW7-specific phosphorylated phosphodegron motifs.
Induction. Expression increases from G1 to G2/M phase.
RefSeq proteins (1): NP_060774* (*=MANE)
Domains & families (InterPro)
UniProt features (18 total): modified residue 7, short sequence motif 4, region of interest 3, compositionally biased region 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96HE9-F1 | 66.84 | 0.10 |
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 (7): 33, 40, 287, 291, 344, 346, 348
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 235 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, CAGCTG_AP4_Q5, SHEPARD_BMYB_MORPHOLINO_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MYOD_01, GOBP_REGULATION_OF_CELL_CYCLE, LIAO_METASTASIS, TGACATY_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BENPORATH_NOS_TARGETS, FISCHER_DREAM_TARGETS, IK3_01, PIT1_Q6
GO Biological Process (1): regulation of cell cycle (GO:0051726)
GO Molecular Function (0):
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
740 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRR11 | SKA2 | Q8WVK7 | 580 |
| PRR11 | BLTP2 | Q14667 | 390 |
| PRR11 | ZNF721 | Q8TF20 | 349 |
| PRR11 | PCIF1 | Q9H4Z3 | 336 |
| PRR11 | PRR12 | Q9ULL5 | 324 |
| PRR11 | ACTR2 | P61160 | 312 |
| PRR11 | PBX3 | P40426 | 298 |
| PRR11 | ANKIB1 | Q9P2G1 | 294 |
| PRR11 | ICA1L | Q8NDH6 | 284 |
| PRR11 | FBLIM1 | Q8WUP2 | 284 |
| PRR11 | KRABD5 | Q7Z2F6 | 278 |
| PRR11 | CYP20A1 | Q6UW02 | 272 |
| PRR11 | GK5 | Q6ZS86 | 271 |
| PRR11 | CCNA1 | P78396 | 270 |
| PRR11 | SKA3 | Q8IX90 | 269 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OSBPL5 | NAGLU | psi-mi:“MI:0914”(association) | 0.640 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| IL4R | RHOBTB3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| IL4R | DHRS3 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| ACTG1 | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| CALD1 | psi-mi:“MI:0914”(association) | 0.350 | |
| KCNA2 | TMEM129 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| TGFA | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF1B | MAP3K7 | psi-mi:“MI:0914”(association) | 0.350 |
| PRR11 | ARHGAP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAVIN1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | 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 |
| LYAR | PES1 | psi-mi:“MI:0914”(association) | 0.350 |
| MEAF6 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| MORF4L2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (245): NIP7 (Affinity Capture-MS), KNOP1 (Affinity Capture-MS), RBM28 (Affinity Capture-MS), SF3B1 (Affinity Capture-MS), POP1 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), FTSJ3 (Affinity Capture-MS), SF3B2 (Affinity Capture-MS), ZNF668 (Affinity Capture-MS), RPL3 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), RPL10A (Affinity Capture-MS), DKC1 (Affinity Capture-MS), PABPC4 (Affinity Capture-MS)
ESM2 similar proteins: A4IG59, A7Z063, A8K0Z3, A8MWX3, B0K035, B2RYF7, C4AMC7, E7F568, F1RCE7, G3V9A7, P57095, Q03173, Q08AE8, Q08BD8, Q1LYM3, Q28DN4, Q3KQW7, Q3ZBW7, Q4R707, Q52KF3, Q58CR1, Q5R3Z9, Q5R789, Q5RIX9, Q5RKG1, Q5U4A3, Q5XII9, Q5ZKA6, Q64GL0, Q6DD45, Q6DFB7, Q6NZY4, Q6P444, Q6VEQ5, Q7T3E8, Q801E2, Q8BHE0, Q8BHS8, Q8VDD8, Q8VED8
Diamond homologs: Q8BHE0, Q96HE9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 54 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 5 | 39.6× | 3e-06 |
| Cap-dependent Translation Initiation | 5 | 39.6× | 3e-06 |
| SARS-CoV-1 modulates host translation machinery | 5 | 39.6× | 3e-06 |
| Eukaryotic Translation Elongation | 5 | 35.7× | 4e-06 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 5 | 34.9× | 5e-06 |
| Nonsense-Mediated Decay (NMD) | 5 | 29.9× | 1e-05 |
| SARS-CoV-2 modulates host translation machinery | 5 | 28.7× | 1e-05 |
| Influenza Viral RNA Transcription and Replication | 5 | 27.6× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 7 | 27.6× | 2e-06 |
| ribosomal small subunit biogenesis | 5 | 24.2× | 2e-04 |
| rRNA processing | 7 | 21.1× | 8e-06 |
| translation | 7 | 15.3× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1317 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:59155801:GACTA:G | donor_gain | 1.0000 |
| 17:59155802:ACTA:A | donor_gain | 1.0000 |
| 17:59155803:CTA:C | donor_gain | 1.0000 |
| 17:59155804:TAG:T | donor_loss | 1.0000 |
| 17:59155805:AG:A | donor_loss | 1.0000 |
| 17:59155806:G:GG | donor_gain | 1.0000 |
| 17:59169746:A:AG | acceptor_gain | 1.0000 |
| 17:59169747:G:GG | acceptor_gain | 1.0000 |
| 17:59169747:GAA:G | acceptor_gain | 1.0000 |
| 17:59169876:GAAAG:G | donor_gain | 1.0000 |
| 17:59194755:A:G | acceptor_gain | 1.0000 |
| 17:59195444:G:GG | donor_gain | 1.0000 |
| 17:59197542:A:AG | acceptor_gain | 1.0000 |
| 17:59197543:G:GG | acceptor_gain | 1.0000 |
| 17:59197543:GC:G | acceptor_gain | 1.0000 |
| 17:59197543:GCA:G | acceptor_gain | 1.0000 |
| 17:59197769:GCCT:G | donor_gain | 1.0000 |
| 17:59155804:TA:T | donor_gain | 0.9900 |
| 17:59155807:T:G | donor_loss | 0.9900 |
| 17:59155816:G:GT | donor_gain | 0.9900 |
| 17:59155817:A:T | donor_gain | 0.9900 |
| 17:59157336:A:AG | donor_gain | 0.9900 |
| 17:59169742:CTGCA:C | acceptor_loss | 0.9900 |
| 17:59169743:TGCAG:T | acceptor_loss | 0.9900 |
| 17:59169744:GCA:G | acceptor_loss | 0.9900 |
| 17:59169745:CA:C | acceptor_loss | 0.9900 |
| 17:59169746:A:AT | acceptor_loss | 0.9900 |
| 17:59169747:GA:G | acceptor_gain | 0.9900 |
| 17:59169747:GAAAT:G | acceptor_gain | 0.9900 |
| 17:59169879:AGG:A | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000025106 (17:59160834 C>T), RS1000067031 (17:59175965 A>C,G), RS1000079762 (17:59191649 C>G), RS1000309334 (17:59158373 G>A), RS1000359436 (17:59207179 G>A), RS1000474033 (17:59201635 C>G), RS1000538034 (17:59168403 C>G,T), RS1000592559 (17:59201989 A>C,G,T), RS1000609564 (17:59201256 C>T), RS1000766137 (17:59196034 G>A), RS1000793901 (17:59206779 C>T), RS1000838193 (17:59181884 G>A), RS1000869374 (17:59181651 G>A,C), RS1000905508 (17:59188652 C>G,T), RS1000910671 (17:59163142 G>C)
Disease associations
OMIM: gene MIM:615920 | 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
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium | decreases expression, increases abundance | 2 |
| Doxorubicin | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| lead acetate | affects cotreatment, increases expression | 1 |
| zinc protoporphyrin | affects cotreatment, increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| diallyl trisulfide | decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| azoxystrobin | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| deguelin | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| thifluzamide | increases expression | 1 |
| abrine | decreases expression | 1 |
| palbociclib | decreases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| jinfukang | 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.