CPSF7
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Also known as FLJ12529CFIM59
Summary
CPSF7 (cleavage and polyadenylation specific factor 7, HGNC:30098) is a protein-coding gene on chromosome 11q12.2, encoding Cleavage and polyadenylation specificity factor subunit 7 (Q8N684). Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3’-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs.
Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes.
Source: NCBI Gene 79869 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 74 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001142565
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30098 |
| Approved symbol | CPSF7 |
| Name | cleavage and polyadenylation specific factor 7 |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12529, CFIM59 |
| Ensembl gene | ENSG00000149532 |
| Ensembl biotype | protein_coding |
| OMIM | 621247 |
| Entrez | 79869 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 22 protein_coding, 6 nonsense_mediated_decay, 4 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000340437, ENST00000394888, ENST00000413184, ENST00000413232, ENST00000439958, ENST00000448745, ENST00000449811, ENST00000450000, ENST00000463244, ENST00000474684, ENST00000477890, ENST00000489728, ENST00000494016, ENST00000535222, ENST00000536145, ENST00000536548, ENST00000537162, ENST00000537641, ENST00000539952, ENST00000541963, ENST00000543545, ENST00000544585, ENST00000544669, ENST00000544990, ENST00000545934, ENST00000626926, ENST00000859445, ENST00000859446, ENST00000859447, ENST00000859448, ENST00000859449, ENST00000925919, ENST00000925920, ENST00000925921, ENST00000940949
RefSeq mRNA: 3 — MANE Select: NM_001142565
NM_001136040, NM_001142565, NM_024811
CCDS: CCDS44619, CCDS44620, CCDS8006
Canonical transcript exons
ENST00000439958 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001119031 | 61410938 | 61411105 |
| ENSE00001119032 | 61415666 | 61415784 |
| ENSE00001234175 | 61416105 | 61416519 |
| ENSE00001834115 | 61429914 | 61429975 |
| ENSE00001870107 | 61402729 | 61404704 |
| ENSE00003508130 | 61420470 | 61420573 |
| ENSE00003515479 | 61429182 | 61429290 |
| ENSE00003561594 | 61411769 | 61411937 |
| ENSE00003580208 | 61421390 | 61421608 |
| ENSE00003628839 | 61419949 | 61420094 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 97.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.2825 / max 201.9018, expressed in 1817 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119995 | 29.3471 | 1816 |
| 119994 | 1.9047 | 1118 |
| 119992 | 0.4692 | 277 |
| 119996 | 0.4312 | 226 |
| 119993 | 0.1304 | 44 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 97.64 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.64 | gold quality |
| pituitary gland | UBERON:0000007 | 97.58 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.08 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.96 | gold quality |
| body of uterus | UBERON:0009853 | 96.91 | gold quality |
| left ovary | UBERON:0002119 | 96.61 | gold quality |
| thyroid gland | UBERON:0002046 | 96.56 | gold quality |
| endocervix | UBERON:0000458 | 96.47 | gold quality |
| right ovary | UBERON:0002118 | 96.38 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.33 | gold quality |
| ventricular zone | UBERON:0003053 | 96.33 | gold quality |
| right coronary artery | UBERON:0001625 | 96.25 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.20 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.19 | gold quality |
| popliteal artery | UBERON:0002250 | 96.18 | gold quality |
| tibial artery | UBERON:0007610 | 96.17 | gold quality |
| body of pancreas | UBERON:0001150 | 96.05 | gold quality |
| left uterine tube | UBERON:0001303 | 96.05 | gold quality |
| body of stomach | UBERON:0001161 | 96.03 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.95 | gold quality |
| lower esophagus | UBERON:0013473 | 95.95 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.89 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.86 | gold quality |
| aorta | UBERON:0000947 | 95.84 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.79 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.78 | gold quality |
| ectocervix | UBERON:0012249 | 95.76 | gold quality |
| granulocyte | CL:0000094 | 95.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
151 targeting CPSF7, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
Literature-anchored findings (GeneRIF, showing 3)
- Data provide evidence that CFIm exists as a heterotetramer of 25-kD, 59-kD and 68-kD subunits of CFIm: CFIm25, CFIm59 and CFIm68. (PMID:20695905)
- The authors demonstrate that CFIm functions as an enhancer-dependent activator of mRNA 3’ processing. CFIm regulates global alternative polyadenylation by specifically binding and activating enhancer-containing poly(A) sites. (PMID:29276085)
- CPSF7 promoted WWP2-FL due to the presence of PTEN ubiquitination sites in this longer transcript and regulates liver cancer growth by targeting WWP2-FL that in turn regulates AKT activation in a PTEN-dependent manner. (PMID:31837982)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cpsf7 | ENSMUSG00000034820 |
| rattus_norvegicus | Cpsf7 | ENSRNOG00000020668 |
| drosophila_melanogaster | Cpsf6 | FBGN0035872 |
| caenorhabditis_elegans | WBGENE00008362 |
Paralogs (1): CPSF6 (ENSG00000111605)
Protein
Protein identifiers
Cleavage and polyadenylation specificity factor subunit 7 — Q8N684 (reviewed: Q8N684)
Alternative names: Cleavage and polyadenylation specificity factor 59 kDa subunit, Cleavage factor Im complex 59 kDa subunit, Pre-mRNA cleavage factor Im 59 kDa subunit
All UniProt accessions (14): Q8N684, C9J286, C9J323, C9JM38, F5GXA3, F5H047, F5H1W4, F5H2K8, F5H5B7, F5H669, F5H6A8, F5H6M0, F5H6P5, J3QT54
UniProt curated annotations — full annotation on UniProt →
Function. Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3’-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3’-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3’-end formation. The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5’-UGUA-3’ elements localized in the 3’-untranslated region (UTR) for a huge number of pre-mRNAs. CPSF7 activates directly the mRNA 3’-processing machinery. Binds to pA signals in RNA substrates.
Subunit / interactions. Component of the cleavage factor Im (CFIm) complex which is a heterotetramer composed of two subunits of NUDT21/CPSF5 and two subunits of CPSF6 or CPSF7 or a heterodimer of CPSF6 and CPSF7 (PubMed:20695905, PubMed:23187700, PubMed:8626397, Ref.22). The cleavage factor Im (CFIm) complex associates with the CPSF and CSTF complexes to promote the assembly of the core mRNA 3’-processing machinery. Interacts with NUDT21/CPSF5. Interacts (via Arg/Ser-rich domain) with FIP1L1 (preferentially via unphosphorylated form and Arg/Glu/Asp-rich region); this interaction mediates, at least in part, the interaction between the CFIm and CPSF complexes and may be inhibited by CPSF7 hyper-phosphorylation.
Subcellular location. Nucleus. Cytoplasm.
Post-translational modifications. Phosphorylated. Asymmetrically dimethylated on arginine residues by PRMT1.
Domain organisation. Contains an Arg/Ser-rich domain composed of arginine-serine dipeptide repeats within the C-terminal region that is necessary and sufficient for activating mRNA 3’-processing.
Similarity. Belongs to the RRM CPSF6/7 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N684-1 | 1 | yes |
| Q8N684-2 | 2 | |
| Q8N684-3 | 3 |
RefSeq proteins (3): NP_001129512, NP_001136037, NP_079087 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034772 | CPSF6/7 | Family |
| IPR034773 | CPSF7_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR057951 | CPSF6/7_RSLD_N | Domain |
Pfam: PF00076, PF25524
UniProt features (28 total): modified residue 4, region of interest 4, strand 4, compositionally biased region 4, sequence conflict 3, helix 3, splice variant 2, chain 1, domain 1, cross-link 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3N9U | X-RAY DIFFRACTION | 1.92 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N684-F1 | 65.55 | 0.33 |
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 (5): 203, 205, 413, 423, 354
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-72187 | mRNA 3’-end processing |
| R-HSA-73856 | RNA Polymerase II Transcription Termination |
| R-HSA-77595 | Processing of Intronless Pre-mRNAs |
| R-HSA-9013422 | RHOBTB1 GTPase cycle |
| R-HSA-9770562 | mRNA Polyadenylation |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
MSigDB gene sets: 197 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCANCTGNY_MYOD_Q6, MAZ_Q6, SP1_Q2_01, CREB_Q4, GOBP_PROTEIN_HETEROTETRAMERIZATION, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GATA1_01, GOBP_MRNA_3_END_PROCESSING, ACATTCC_MIR1_MIR206, TGANTCA_AP1_C, IK2_01, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, NRF2_01
GO Biological Process (6): mRNA 3’-end processing (GO:0031124), protein tetramerization (GO:0051262), protein heterotetramerization (GO:0051290), mRNA alternative polyadenylation (GO:0110104), co-transcriptional mRNA 3’-end processing, cleavage and polyadenylation pathway (GO:0180010), mRNA processing (GO:0006397)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mRNA cleavage and polyadenylation specificity factor complex (GO:0005847), mRNA cleavage factor complex (GO:0005849), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| RNA Polymerase II Transcription | 1 |
| Processing of Capped Intronless Pre-mRNA | 1 |
| RHOBTB GTPase Cycle | 1 |
| mRNA 3’-end processing | 1 |
| Dengue Virus Infection | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| mRNA 3’-end processing | 2 |
| binding | 2 |
| mRNA processing | 1 |
| RNA 3’-end processing | 1 |
| protein complex oligomerization | 1 |
| protein tetramerization | 1 |
| protein heterooligomerization | 1 |
| co-transcriptional RNA 3’-end processing, cleavage and polyadenylation pathway | 1 |
| RNA processing | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| mRNA cleavage factor complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1830 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CPSF7 | NUDT21 | O43809 | 998 |
| CPSF7 | U2AF2 | P26368 | 939 |
| CPSF7 | CPSF1 | Q10570 | 894 |
| CPSF7 | CPSF2 | Q9P2I0 | 833 |
| CPSF7 | CSTF2 | P33240 | 810 |
| CPSF7 | CSTF1 | Q05048 | 804 |
| CPSF7 | CPSF4 | O95639 | 796 |
| CPSF7 | CSTF3 | Q12996 | 796 |
| CPSF7 | CPSF3 | Q9UKF6 | 788 |
| CPSF7 | WDR33 | Q9C0J8 | 788 |
| CPSF7 | CPSF6 | Q16630 | 763 |
| CPSF7 | SYMPK | Q92797 | 757 |
| CPSF7 | PCF11 | O94913 | 743 |
| CPSF7 | FIP1L1 | Q6UN15 | 643 |
| CPSF7 | PTBP1 | P26599 | 541 |
IntAct
172 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EMC2 | EMC8 | psi-mi:“MI:0914”(association) | 0.940 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| CPSF6 | NUDT21 | psi-mi:“MI:0914”(association) | 0.890 |
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| NUDT21 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CPSF7 | NUDT21 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CPSF7 | NCK2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NCK2 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| QPRT | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| CPSF7 | U2AF2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| CLK2 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMAD3 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNX1T1 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPSF7 | TLE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPSF7 | SEC23B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPSF7 | EPM2AIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPSF7 | SNRNP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPSF7 | ARMC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPSF7 | SMAD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE5 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC23B | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPM2AIP1 | CPSF7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (452): CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Two-hybrid), CPSF7 (Affinity Capture-RNA), CPSF7 (Affinity Capture-RNA), CPSF7 (Affinity Capture-RNA), CPSF7 (Affinity Capture-RNA), CPSF7 (Affinity Capture-MS)
ESM2 similar proteins: A0A1N7SYS3, A1A619, A3LP48, A9ULX8, B0BN56, D4A2Y9, F1NVK6, F6UF99, O04326, P40508, P82908, P82925, P92204, Q02854, Q04935, Q0P5B1, Q1LVV0, Q28GQ3, Q28HF6, Q28X44, Q2UDY8, Q3SYY7, Q3V0J1, Q56VL3, Q5I030, Q5R891, Q5XI29, Q61733, Q659C4, Q66IE4, Q68EU0, Q6AZH0, Q6BI17, Q6CHT7, Q6CJX5, Q6DFB7, Q6DFJ8, Q6NYD7, Q6PFM4, Q75D23
Diamond homologs: A0A0D1C8Z4, Q0P5D2, Q16630, Q5NVH8, Q5XI29, Q5ZL34, Q6DDW4, Q6NVF9, Q6NWC6, Q8BTV2, Q8N684, Q9VSH4, P10979, Q99070, Q03251
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CPSF7 | “form complex” | “CFI complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 168 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 |
|---|---|---|---|
| mRNA 3’-end processing | 7 | 12.2× | 2e-04 |
| mRNA Splicing - Minor Pathway | 6 | 11.9× | 8e-04 |
| mRNA Splicing | 12 | 11.7× | 5e-08 |
| mRNA Polyadenylation | 14 | 10.9× | 1e-08 |
| Processing of Capped Intron-Containing Pre-mRNA | 14 | 10.2× | 2e-08 |
| RNA Polymerase II Transcription Termination | 5 | 9.7× | 9e-03 |
| mRNA Splicing - Major Pathway | 19 | 9.2× | 1e-10 |
| Dengue Virus-Host Interactions | 17 | 6.9× | 5e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA transport | 7 | 12.6× | 3e-04 |
| mRNA splicing, via spliceosome | 20 | 12.6× | 2e-13 |
| positive regulation of transcription elongation by RNA polymerase II | 6 | 12.4× | 2e-03 |
| negative regulation of translation | 6 | 8.1× | 9e-03 |
| RNA splicing | 12 | 7.2× | 5e-05 |
| mRNA processing | 12 | 6.5× | 1e-04 |
| chromatin remodeling | 10 | 5.0× | 4e-03 |
| transcription by RNA polymerase II | 10 | 4.8× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2193 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:61411765:TCACC:T | donor_loss | 1.0000 |
| 11:61411767:A:AT | donor_loss | 1.0000 |
| 11:61411934:TCCC:T | acceptor_gain | 1.0000 |
| 11:61411935:CCC:C | acceptor_gain | 1.0000 |
| 11:61411935:CCCC:C | acceptor_gain | 1.0000 |
| 11:61411936:CC:C | acceptor_gain | 1.0000 |
| 11:61411936:CCC:C | acceptor_gain | 1.0000 |
| 11:61411937:CC:C | acceptor_gain | 1.0000 |
| 11:61411938:C:CA | acceptor_loss | 1.0000 |
| 11:61411938:C:CC | acceptor_gain | 1.0000 |
| 11:61411941:A:C | acceptor_gain | 1.0000 |
| 11:61411948:A:C | acceptor_gain | 1.0000 |
| 11:61415661:GTTA:G | donor_loss | 1.0000 |
| 11:61415662:TTA:T | donor_loss | 1.0000 |
| 11:61415663:TACCT:T | donor_loss | 1.0000 |
| 11:61415664:A:T | donor_loss | 1.0000 |
| 11:61415780:CTCGG:C | acceptor_gain | 1.0000 |
| 11:61415781:TCGGC:T | acceptor_loss | 1.0000 |
| 11:61415782:CGG:C | acceptor_gain | 1.0000 |
| 11:61415783:GGC:G | acceptor_loss | 1.0000 |
| 11:61415785:C:CC | acceptor_gain | 1.0000 |
| 11:61415785:CTGTA:C | acceptor_loss | 1.0000 |
| 11:61416422:AT:A | donor_gain | 1.0000 |
| 11:61419920:ACCC:A | donor_gain | 1.0000 |
| 11:61419921:CCCC:C | donor_gain | 1.0000 |
| 11:61419947:A:AC | donor_gain | 1.0000 |
| 11:61419948:C:CA | donor_gain | 1.0000 |
| 11:61419948:CGTTT:C | donor_gain | 1.0000 |
| 11:61420090:CATAC:C | acceptor_gain | 1.0000 |
| 11:61420091:ATAC:A | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000016494 (11:61417041 A>C), RS1000033246 (11:61409876 G>A), RS1000040511 (11:61425301 C>A,T), RS1000099610 (11:61429038 A>T), RS1000114920 (11:61429657 C>A), RS1000170803 (11:61410113 T>C), RS1000280832 (11:61403145 A>G), RS1000326827 (11:61416716 A>C,G), RS1000700421 (11:61427894 G>A), RS1000743456 (11:61428119 T>C), RS1000777494 (11:61403403 A>G), RS1000852980 (11:61422184 C>T), RS1000994493 (11:61422569 G>A), RS1001065655 (11:61408704 G>A), RS1001200730 (11:61428723 G>A)
Disease associations
OMIM: gene MIM:621247 | disease phenotypes: MIM:213300
GenCC curated gene-disease
Mondo (2): prostate cancer (MONDO:0008315), Joubert syndrome (MONDO:0018772)
Orphanet (2): Familial prostate cancer (Orphanet:1331), Isolated Joubert syndrome (Orphanet:475)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724758 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.78 | Kd | 1648 | nM | CHEMBL5653589 |
| 5.78 | ED50 | 1648 | nM | CHEMBL5653589 |
| 5.01 | IC50 | 9730 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 8 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148136: Binding affinity to human CPSF7 incubated for 45 mins by Kinobead based pull down assay | kd | 1.6478 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179078: Inhibition of FLJ12529 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 9.7300 | uM |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| sodium arsenite | increases abundance, increases expression, increases activity | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Vehicle Emissions | affects expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Gallic Acid | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | affects expression, increases abundance | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651178 | Binding | Binding affinity to human CPSF7 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2V5 | Abcam HEK293T CPSF7 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Joubert syndrome