PCGF1
gene geneOn this page
Also known as NSPC1RNF68MGC10882
Summary
PCGF1 (polycomb group ring finger 1, HGNC:17615) is a protein-coding gene on chromosome 2p13.1, encoding Polycomb group RING finger protein 1 (Q9BSM1). Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A.
PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).
Source: NCBI Gene 84759 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_032673
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17615 |
| Approved symbol | PCGF1 |
| Name | polycomb group ring finger 1 |
| Location | 2p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NSPC1, RNF68, MGC10882 |
| Ensembl gene | ENSG00000115289 |
| Ensembl biotype | protein_coding |
| OMIM | 610231 |
| Entrez | 84759 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000233630, ENST00000463744, ENST00000465993, ENST00000475863, ENST00000480844, ENST00000489914, ENST00000496911, ENST00000877061, ENST00000913069, ENST00000913070, ENST00000913071, ENST00000913072, ENST00000913073, ENST00000948999
RefSeq mRNA: 1 — MANE Select: NM_032673
NM_032673
CCDS: CCDS1946
Canonical transcript exons
ENST00000233630 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000920831 | 74507576 | 74507695 |
| ENSE00003494025 | 74505552 | 74505638 |
| ENSE00003516406 | 74505043 | 74505190 |
| ENSE00003538403 | 74505339 | 74505419 |
| ENSE00003554787 | 74505952 | 74506057 |
| ENSE00003559332 | 74506732 | 74506884 |
| ENSE00003590667 | 74507042 | 74507147 |
| ENSE00003599722 | 74506181 | 74506252 |
| ENSE00003674192 | 74505737 | 74505770 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 98.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3586 / max 89.6845, expressed in 1809 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29225 | 8.9220 | 1785 |
| 29224 | 7.3846 | 1731 |
| 29223 | 1.0998 | 774 |
| 29222 | 0.9522 | 578 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 98.60 | gold quality |
| secondary oocyte | CL:0000655 | 95.69 | gold quality |
| granulocyte | CL:0000094 | 94.25 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.24 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.57 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.07 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.64 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.18 | gold quality |
| pituitary gland | UBERON:0000007 | 92.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.09 | gold quality |
| body of stomach | UBERON:0001161 | 91.92 | gold quality |
| body of pancreas | UBERON:0001150 | 91.85 | gold quality |
| right uterine tube | UBERON:0001302 | 91.56 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.56 | gold quality |
| apex of heart | UBERON:0002098 | 91.29 | gold quality |
| monocyte | CL:0000576 | 91.27 | gold quality |
| mononuclear cell | CL:0000842 | 91.26 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.25 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.13 | gold quality |
| leukocyte | CL:0000738 | 91.11 | gold quality |
| transverse colon | UBERON:0001157 | 90.71 | gold quality |
| cerebellum | UBERON:0002037 | 90.61 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.59 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.35 | gold quality |
| thyroid gland | UBERON:0002046 | 90.32 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.08 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.03 | gold quality |
| pancreas | UBERON:0001264 | 90.02 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.21 |
| E-MTAB-4850 | no | 76.45 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| POU5F1 |
Upstream regulators (CollecTRI, top): BCL6, RUNX1
miRNA regulators (miRDB)
21 targeting PCGF1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-1298-3P | 94.05 | 64.84 | 620 |
Literature-anchored findings (GeneRIF, showing 9)
- polycomb has a role in stem cell fate and development of cancer (review) (PMID:15315754)
- knockdown of PCGF1 results in reduced expression of DPPA4 and other subunits of the variant PRC1 complex at both mRNA and protein levels. Thus, PCGF1 represents a physical and functional link between Polycomb function and pluripotency (PMID:26687479)
- these results demonstrate that NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 and may provide novel targets for glioma treatment in the future. (PMID:28394339)
- The results of the present study demonstrated that miR320a inhibition decreased insulininduced KGN cell proliferation and apoptosis by targeting PCGF1. (PMID:28849208)
- Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease. (PMID:32628469)
- PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment. (PMID:34148069)
- Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia. (PMID:36815373)
- MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo. (PMID:36932196)
- Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1. (PMID:38088808)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pcgf1 | ENSDARG00000001249 |
| mus_musculus | Pcgf1 | ENSMUSG00000069678 |
| rattus_norvegicus | Pcgf1 | ENSRNOG00000051433 |
| drosophila_melanogaster | Psc | FBGN0005624 |
| drosophila_melanogaster | Su(z)2 | FBGN0265623 |
Paralogs (7): RNF2 (ENSG00000121481), PCGF6 (ENSG00000156374), BMI1 (ENSG00000168283), PCGF5 (ENSG00000180628), PCGF3 (ENSG00000185619), RING1 (ENSG00000204227), PCGF2 (ENSG00000277258)
Protein
Protein identifiers
Polycomb group RING finger protein 1 — Q9BSM1 (reviewed: Q9BSM1)
Alternative names: Nervous system Polycomb-1, RING finger protein 68
All UniProt accessions (1): Q9BSM1
UniProt curated annotations — full annotation on UniProt →
Function. Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down-regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ‘Lys-119’, rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity. Regulates the expression of DPPA4 and NANOG in the NT2 embryonic carcinoma cells.
Subunit / interactions. Interacts with BCORL1, forming heterodimers. The PCGF1-BCORL1 heterodimeric complex interacts with the KDM2B-SKP1 heterodimeric complex to form a homotetrameric polycomb repression complex 1 (PRC1.1). Component of the repressive BCOR complex containing a Polycomb group subcomplex at least composed of RYBP, RING1 and RNF2/RING2. Specifically interacts with BCOR, RING1 and RNF2/RING2. Component of a PRC1-like complex. Interacts with CBX6, CBX7 and CBX8. Interacts with DPPA4, NANOG, POU5F1 and RYBP.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BSM1-1 | 1 | yes |
| Q9BSM1-3 | 2 |
RefSeq proteins (1): NP_116062* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR032443 | RAWUL | Domain |
Pfam: PF13923, PF16207
UniProt features (26 total): mutagenesis site 5, helix 4, strand 4, region of interest 3, turn 2, modified residue 2, cross-link 2, initiator methionine 1, chain 1, splice variant 1, zinc finger region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4HPM | X-RAY DIFFRACTION | 1.85 |
| 4HPL | X-RAY DIFFRACTION | 2 |
| 8HCU | X-RAY DIFFRACTION | 2.2 |
| 5JH5 | X-RAY DIFFRACTION | 2.55 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BSM1-F1 | 82.12 | 0.57 |
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 (4): 2, 3, 24, 88
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 109 | marked decrease of repressor activity. may be a kinase phosphorylation site. |
| 191 | abolishes interaction with bcor and bcorl1. |
| 193 | abolishes interaction with bcor and bcorl1. |
| 195 | abolishes repressor activity. may be a pkc phosphorylation site. |
| 206 | abolishes interaction with bcor and bcorl1. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
MORF_RAGE, YAATNRNNNYNATT_UNKNOWN, TGCGCANK_UNKNOWN, MODULE_255, GCANCTGNY_MYOD_Q6, CGGAARNGGCNG_UNKNOWN, MORF_ATRX, MODULE_317, AREB6_01, PUJANA_CHEK2_PCC_NETWORK, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CCANNAGRKGGC_UNKNOWN, MORF_PPP5C, MORF_FANCG, HEN1_01
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): zinc ion binding (GO:0008270), promoter-specific chromatin binding (GO:1990841), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| chromatin organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transition metal ion binding | 1 |
| chromatin binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| nuclear ubiquitin ligase complex | 1 |
| PcG protein complex | 1 |
Protein interactions and networks
STRING
1072 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCGF1 | RING1 | Q06587 | 997 |
| PCGF1 | RNF2 | Q99496 | 997 |
| PCGF1 | RYBP | Q8N488 | 996 |
| PCGF1 | YAF2 | Q8IY57 | 995 |
| PCGF1 | KDM2B | Q8NHM5 | 995 |
| PCGF1 | SKP1 | P34991 | 972 |
| PCGF1 | CBX2 | Q14781 | 914 |
| PCGF1 | BMI1 | P35226 | 858 |
| PCGF1 | R4GMX3 | R4GMX3 | 858 |
| PCGF1 | BCOR | Q6W2J9 | 855 |
| PCGF1 | PCGF2 | P35227 | 847 |
| PCGF1 | PHC1 | P78364 | 835 |
| PCGF1 | PCGF6 | Q9BYE7 | 814 |
| PCGF1 | EZH2 | Q15910 | 805 |
| PCGF1 | BCORL1 | Q5H9F3 | 802 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBX8 | BMI1 | psi-mi:“MI:0914”(association) | 0.970 |
| RNF2 | PCGF1 | psi-mi:“MI:0915”(physical association) | 0.950 |
| PCGF1 | RNF2 | psi-mi:“MI:0915”(physical association) | 0.950 |
| CBX7 | BMI1 | psi-mi:“MI:0914”(association) | 0.940 |
| RYBP | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.900 |
| RING1 | PCGF1 | psi-mi:“MI:0915”(physical association) | 0.890 |
| PCGF1 | RING1 | psi-mi:“MI:0915”(physical association) | 0.890 |
| PCGF1 | RING1 | psi-mi:“MI:0914”(association) | 0.890 |
| PCGF1 | BCOR | psi-mi:“MI:0914”(association) | 0.880 |
| PCGF1 | BCOR | psi-mi:“MI:0915”(physical association) | 0.880 |
| RYBP | BMI1 | psi-mi:“MI:0914”(association) | 0.850 |
| CBX8 | PCGF1 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| BCOR | KDM2B | psi-mi:“MI:0914”(association) | 0.770 |
| RYBP | E2F6 | psi-mi:“MI:0914”(association) | 0.740 |
| RING1 | CBX4 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| BCOR | SKP1 | psi-mi:“MI:0914”(association) | 0.730 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| PCGF1 | CBX7 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| CBX8 | BCOR | psi-mi:“MI:0914”(association) | 0.660 |
BioGRID (372): PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Two-hybrid), PCGF1 (Proximity Label-MS), PCGF1 (Proximity Label-MS), PCGF1 (Proximity Label-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), PCGF1 (Affinity Capture-MS), RNF2 (Reconstituted Complex), PCGF1 (Biochemical Activity)
ESM2 similar proteins: A0JN86, A2AHJ4, A2APV2, A2AQW0, A9JRL3, B3DK16, O08874, O35099, P0CF52, P19447, P23798, P25916, P32866, P35226, P35227, P49135, Q07139, Q1JPS1, Q1RMT1, Q21029, Q28H21, Q2YDF9, Q32KX7, Q3UK78, Q4QR06, Q5R8L2, Q5RA62, Q5SDR3, Q5ZKK7, Q640D5, Q6DD21, Q6DLV9, Q6GN16, Q6RI45, Q6ZN16, Q7T3E6, Q7Z569, Q7ZYZ7, Q86SE9, Q8BPM2
Diamond homologs: A0JN86, B3DK16, P23798, P25916, P35226, P35227, Q07G17, Q0WX00, Q14527, Q1JPS1, Q28H21, Q2KJ29, Q2YDF9, Q32KX7, Q3KNV8, Q3UK78, Q4QR06, Q5R8L2, Q5SDR3, Q5XI70, Q640D5, Q6CJM4, Q6DLV9, Q7T3E6, Q7ZYZ7, Q86SE9, Q8BTQ0, Q8JIR0, Q8R023, Q91648, Q94AY3, Q99NA9, Q9BSM1, Q9BYE7, Q9FKW0, Q9LS86, Q9M9Y4, Q9TST0, O60106, Q19336
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | PCGF1 | ubiquitination |
| PCGF1 | “form complex” | “Noncanonical PRC1” | binding |
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 |
|---|---|---|---|
| SUMOylation of DNA methylation proteins | 5 | 45.4× | 7e-06 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 11 | 44.7× | 2e-13 |
| Transcriptional Regulation by E2F6 | 6 | 23.7× | 2e-05 |
| SUMOylation of transcription cofactors | 5 | 16.4× | 6e-04 |
| SUMOylation of RNA binding proteins | 5 | 16.1× | 6e-04 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 8 | 15.8× | 6e-06 |
| Deactivation of the beta-catenin transactivating complex | 5 | 15.8× | 6e-04 |
| Regulation of PTEN gene transcription | 6 | 14.5× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 5 | 18.4× | 5e-04 |
| cell fate commitment | 6 | 16.3× | 2e-04 |
| forebrain development | 5 | 16.1× | 8e-04 |
| inner ear morphogenesis | 5 | 13.8× | 2e-03 |
| anatomical structure morphogenesis | 9 | 11.5× | 1e-05 |
| chromatin remodeling | 13 | 8.7× | 7e-07 |
| transcription by RNA polymerase II | 13 | 8.4× | 9e-07 |
| gene expression | 8 | 5.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1402 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:74505333:GCTTA:G | donor_loss | 1.0000 |
| 2:74505334:CTTA:C | donor_loss | 1.0000 |
| 2:74505335:TTA:T | donor_loss | 1.0000 |
| 2:74505336:TACCT:T | donor_loss | 1.0000 |
| 2:74505337:A:T | donor_loss | 1.0000 |
| 2:74505415:TGCAC:T | acceptor_gain | 1.0000 |
| 2:74505417:CAC:C | acceptor_gain | 1.0000 |
| 2:74505418:AC:A | acceptor_gain | 1.0000 |
| 2:74505419:CC:C | acceptor_gain | 1.0000 |
| 2:74505420:C:CC | acceptor_gain | 1.0000 |
| 2:74505421:T:C | acceptor_loss | 1.0000 |
| 2:74505545:TACTC:T | donor_loss | 1.0000 |
| 2:74505546:ACT:A | donor_loss | 1.0000 |
| 2:74505547:CTCAC:C | donor_loss | 1.0000 |
| 2:74505549:CACAT:C | donor_loss | 1.0000 |
| 2:74505550:A:AC | donor_gain | 1.0000 |
| 2:74505551:C:CC | donor_gain | 1.0000 |
| 2:74505551:CATG:C | donor_gain | 1.0000 |
| 2:74505646:C:CT | acceptor_gain | 1.0000 |
| 2:74505647:A:T | acceptor_gain | 1.0000 |
| 2:74505766:CAGAA:C | acceptor_gain | 1.0000 |
| 2:74505768:GAA:G | acceptor_gain | 1.0000 |
| 2:74505769:AA:A | acceptor_gain | 1.0000 |
| 2:74505769:AAC:A | acceptor_loss | 1.0000 |
| 2:74505771:C:CC | acceptor_gain | 1.0000 |
| 2:74505771:CTGG:C | acceptor_loss | 1.0000 |
| 2:74505772:T:A | acceptor_loss | 1.0000 |
| 2:74505947:CTCAC:C | donor_loss | 1.0000 |
| 2:74505948:TCA:T | donor_loss | 1.0000 |
| 2:74505949:CA:C | donor_loss | 1.0000 |
AlphaMissense
1715 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:74506227:G:C | F126L | 1.000 |
| 2:74506227:G:T | F126L | 1.000 |
| 2:74506228:A:G | F126S | 1.000 |
| 2:74506229:A:G | F126L | 1.000 |
| 2:74506240:C:G | R122P | 1.000 |
| 2:74506752:A:G | L111P | 1.000 |
| 2:74506770:T:G | Q105P | 1.000 |
| 2:74506782:T:A | D101V | 1.000 |
| 2:74506782:T:C | D101G | 1.000 |
| 2:74506782:T:G | D101A | 1.000 |
| 2:74506783:C:A | D101Y | 1.000 |
| 2:74506783:C:G | D101H | 1.000 |
| 2:74506791:A:G | L98P | 1.000 |
| 2:74506791:A:T | L98H | 1.000 |
| 2:74506803:G:T | P94Q | 1.000 |
| 2:74506804:G:A | P94S | 1.000 |
| 2:74506814:G:C | H90Q | 1.000 |
| 2:74506814:G:T | H90Q | 1.000 |
| 2:74506816:G:C | H90D | 1.000 |
| 2:74506818:A:C | I89S | 1.000 |
| 2:74506818:A:G | I89T | 1.000 |
| 2:74506818:A:T | I89N | 1.000 |
| 2:74506829:G:C | C85W | 1.000 |
| 2:74506830:C:A | C85F | 1.000 |
| 2:74506830:C:G | C85S | 1.000 |
| 2:74506830:C:T | C85Y | 1.000 |
| 2:74506831:A:G | C85R | 1.000 |
| 2:74506831:A:T | C85S | 1.000 |
| 2:74506836:G:T | P83H | 1.000 |
| 2:74506837:G:A | P83S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000515517 (2:74504920 C>G,T), RS1002524278 (2:74507717 G>A), RS1003934282 (2:74508824 G>A), RS1004503452 (2:74507402 A>C,T), RS1004534799 (2:74507249 C>A), RS1005537525 (2:74507481 G>A), RS1005542139 (2:74508207 G>A), RS1006289098 (2:74508391 G>C), RS1009303636 (2:74504953 G>A,C), RS1009583993 (2:74504815 A>G), RS1010083798 (2:74504923 G>A), RS1010311174 (2:74506306 G>A), RS1011202811 (2:74507869 G>A), RS1011318866 (2:74507765 C>A,T), RS1012213285 (2:74509297 A>G)
Disease associations
OMIM: gene MIM:610231 | 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Cycloheximide | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | 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_E2G7 | HAP1 PCGF1 (-) | Cancer cell line | Male |
| CVCL_F1QT | HyCyte HT-29 KO-hPCGF1 | Cancer cell line | Female |
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.