CACTIN
gene geneOn this page
Also known as NY-REN-24fSAPc
Summary
CACTIN (cactin, spliceosome C complex subunit, HGNC:29938) is a protein-coding gene on chromosome 19p13.3, encoding Splicing factor Cactin (Q8WUQ7). Plays a role in pre-mRNA splicing by facilitating excision of a subset of introns. It is a common-essential gene (DepMap: required in 96.1% of cancer cell lines).
Enables RNA binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation of cytokine production; and negative regulation of signal transduction. Located in cytosol and nuclear speck. Part of catalytic step 2 spliceosome.
Source: NCBI Gene 58509 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 108 total
- Cancer dependency (DepMap): dependent in 96.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001080543
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29938 |
| Approved symbol | CACTIN |
| Name | cactin, spliceosome C complex subunit |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-REN-24, fSAPc |
| Ensembl gene | ENSG00000105298 |
| Ensembl biotype | protein_coding |
| OMIM | 618536 |
| Entrez | 58509 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000221899, ENST00000248420, ENST00000429344, ENST00000585942, ENST00000587175, ENST00000588749, ENST00000589321, ENST00000591726, ENST00000591978, ENST00000592721, ENST00000918263
RefSeq mRNA: 2 — MANE Select: NM_001080543
NM_001080543, NM_021231
CCDS: CCDS45920
Canonical transcript exons
ENST00000429344 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000664365 | 3620707 | 3620802 |
| ENSE00001672817 | 3610645 | 3612413 |
| ENSE00003591531 | 3613464 | 3613586 |
| ENSE00003620216 | 3614397 | 3614589 |
| ENSE00003634395 | 3613058 | 3613365 |
| ENSE00003644846 | 3619080 | 3619242 |
| ENSE00003645665 | 3620127 | 3620272 |
| ENSE00003662668 | 3618875 | 3618989 |
| ENSE00003739939 | 3623688 | 3624162 |
| ENSE00003845105 | 3626596 | 3626790 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 89.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2302 / max 133.8733, expressed in 1803 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178324 | 12.8624 | 1801 |
| 178323 | 0.3678 | 162 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 89.80 | gold quality |
| granulocyte | CL:0000094 | 89.01 | gold quality |
| right ovary | UBERON:0002118 | 87.72 | gold quality |
| left ovary | UBERON:0002119 | 87.71 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.62 | gold quality |
| olfactory bulb | UBERON:0002264 | 86.44 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 86.29 | gold quality |
| type B pancreatic cell | CL:0000169 | 86.25 | gold quality |
| left uterine tube | UBERON:0001303 | 85.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.58 | gold quality |
| lower esophagus | UBERON:0013473 | 85.56 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.55 | gold quality |
| apex of heart | UBERON:0002098 | 85.31 | gold quality |
| body of uterus | UBERON:0009853 | 85.22 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.05 | gold quality |
| popliteal artery | UBERON:0002250 | 84.90 | gold quality |
| tibial artery | UBERON:0007610 | 84.89 | gold quality |
| left testis | UBERON:0004533 | 84.67 | gold quality |
| right testis | UBERON:0004534 | 84.66 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.60 | gold quality |
| cerebellum | UBERON:0002037 | 84.60 | gold quality |
| tibial nerve | UBERON:0001323 | 84.59 | gold quality |
| skin of leg | UBERON:0001511 | 84.54 | gold quality |
| aorta | UBERON:0000947 | 84.48 | gold quality |
| body of stomach | UBERON:0001161 | 84.42 | gold quality |
| muscle of leg | UBERON:0001383 | 84.36 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting CACTIN, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-5190 | 99.15 | 67.76 | 1234 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-4710 | 98.61 | 65.96 | 1048 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-4717-5P | 98.19 | 67.97 | 894 |
| HSA-MIR-3155A | 98.16 | 66.09 | 965 |
| HSA-MIR-3155B | 98.16 | 66.09 | 965 |
| HSA-MIR-484 | 98.16 | 66.92 | 1074 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
| HSA-MIR-663B | 97.40 | 62.91 | 664 |
| HSA-MIR-6859-3P | 97.26 | 64.69 | 428 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- results indicate that PKC-mediated cortactin phosphorylation might be implicated in the maintenance of growth cone (PMID:26033110)
- TRIM39 negatively regulates the NFkappaB signaling pathway possibly via stabilization of cactin. (PMID:26363554)
- cellular complexes comprising cactin, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs. (PMID:28062851)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cactin | ENSDARG00000059866 |
| mus_musculus | Cactin | ENSMUSG00000034889 |
| rattus_norvegicus | Cactin | ENSRNOG00000039852 |
| drosophila_melanogaster | cactin | FBGN0031114 |
| caenorhabditis_elegans | WBGENE00012230 |
Paralogs (2): PQBP1 (ENSG00000102103), MARVELD3 (ENSG00000140832)
Protein
Protein identifiers
Splicing factor Cactin — Q8WUQ7 (reviewed: Q8WUQ7)
Alternative names: Renal carcinoma antigen NY-REN-24
All UniProt accessions (5): Q8WUQ7, K7EIU6, K7EMQ0, K7ENY9, K7EQE3
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in pre-mRNA splicing by facilitating excision of a subset of introns. Required for the splicing of CDCA5/Sororin, a regulator of sister chromatid cohesion. Involved in the regulation of innate immune response. Acts as a negative regulator of Toll-like receptor, interferon-regulatory factor (IRF) and canonical NF-kappa-B signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous pro-inflammatory stimuli.
Subunit / interactions. Interacts (via N-terminal domain) with NFKBIL1; the interaction occurs in a pro-inflammatory-independent manner. Does not interact with RELA NF-kappa-B subunit. Identified in the spliceosome C complex. Interacts with SF3B1. Interacts with SDE2. Interacts with SRRM2. Interacts with DHX8. Interacts with isoform 2 of TRIM39 (via domain B box-type).
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Induction. Up-regulated by TNF/TNFA (at protein level).
Miscellaneous. Antigen recognized by autologous antibody in patients with renal-cell carcinoma. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the CACTIN family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WUQ7-1 | 1 | yes |
| Q8WUQ7-2 | 2 |
RefSeq proteins (2): NP_001074012, NP_067054 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018816 | Cactin_central | Domain |
| IPR019134 | Cactin_C | Domain |
Pfam: PF09732, PF10312
UniProt features (19 total): compositionally biased region 6, region of interest 3, modified residue 3, cross-link 2, coiled-coil region 2, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8C6J | ELECTRON MICROSCOPY | 2.8 |
| 6QDV | ELECTRON MICROSCOPY | 3.3 |
| 9FMD | ELECTRON MICROSCOPY | 3.3 |
| 7W5A | ELECTRON MICROSCOPY | 3.6 |
| 7W5B | ELECTRON MICROSCOPY | 4.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUQ7-F1 | 69.52 | 0.13 |
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): 126, 476, 559, 469, 484
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 187 (showing top):
GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS
GO Biological Process (19): mRNA splicing, via spliceosome (GO:0000398), negative regulation of protein phosphorylation (GO:0001933), negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665), obsolete negative regulation of NF-kappaB transcription factor activity (GO:0032088), negative regulation of interferon-beta production (GO:0032688), negative regulation of interleukin-8 production (GO:0032717), negative regulation of tumor necrosis factor production (GO:0032720), negative regulation of toll-like receptor signaling pathway (GO:0034122), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), innate immune response (GO:0045087), mRNA cis splicing, via spliceosome (GO:0045292), negative regulation of innate immune response (GO:0045824), negative regulation of type I interferon-mediated signaling pathway (GO:0060339), cellular response to lipopolysaccharide (GO:0071222), cellular response to interleukin-1 (GO:0071347), cellular response to tumor necrosis factor (GO:0071356), immune system process (GO:0002376), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607), catalytic step 2 spliceosome (GO:0071013)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| negative regulation of response to biotic stimulus | 2 |
| negative regulation of signal transduction | 2 |
| negative regulation of response to external stimulus | 2 |
| cellular response to cytokine stimulus | 2 |
| RNA processing | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| regulation of protein phosphorylation | 1 |
| protein phosphorylation | 1 |
| negative regulation of protein modification process | 1 |
| negative regulation of phosphorylation | 1 |
| lipopolysaccharide-mediated signaling pathway | 1 |
| regulation of lipopolysaccharide-mediated signaling pathway | 1 |
| negative regulation of type I interferon production | 1 |
| interferon-beta production | 1 |
| regulation of interferon-beta production | 1 |
| negative regulation of cytokine production | 1 |
| interleukin-8 production | 1 |
| regulation of interleukin-8 production | 1 |
| tumor necrosis factor production | 1 |
| regulation of tumor necrosis factor production | 1 |
| negative regulation of tumor necrosis factor superfamily cytokine production | 1 |
| toll-like receptor signaling pathway | 1 |
| negative regulation of immune system process | 1 |
| regulation of toll-like receptor signaling pathway | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| mRNA splicing, via spliceosome | 1 |
| negative regulation of defense response | 1 |
| innate immune response | 1 |
| regulation of innate immune response | 1 |
| negative regulation of immune response | 1 |
| negative regulation of cytokine-mediated signaling pathway | 1 |
| negative regulation of innate immune response | 1 |
| type I interferon-mediated signaling pathway | 1 |
| regulation of type I interferon-mediated signaling pathway | 1 |
Protein interactions and networks
STRING
1240 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CACTIN | TRIM39 | Q9HCM9 | 697 |
| CACTIN | FAM32A | Q9Y421 | 608 |
| CACTIN | SDE2 | Q6IQ49 | 591 |
| CACTIN | TRIM9 | Q9C026 | 561 |
| CACTIN | TWF2 | Q6IBS0 | 527 |
| CACTIN | TWF1 | Q12792 | 507 |
| CACTIN | PRKRIP1 | Q9H875 | 506 |
| CACTIN | BUD31 | P41223 | 468 |
| CACTIN | CRNKL1 | Q9BZJ0 | 456 |
| CACTIN | SNW1 | Q13573 | 436 |
| CACTIN | TRIM11 | Q96F44 | 427 |
| CACTIN | TAB2 | Q9NYJ8 | 423 |
| CACTIN | SLU7 | O95391 | 413 |
| CACTIN | RNF216 | Q9NWF9 | 397 |
| CACTIN | GID8 | Q9NWU2 | 371 |
IntAct
92 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2A1 | EIF3J | psi-mi:“MI:0914”(association) | 0.810 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
| DHX8 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2B | RPS6KA4 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD10 | CLPX | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| SUMO1 | CBX4 | psi-mi:“MI:0914”(association) | 0.600 |
| CLK2 | CACTIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC3A | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AA1 | EDRF1 | psi-mi:“MI:0914”(association) | 0.530 |
| STEEP1 | KLHL36 | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| FGF13 | MARK3 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| CACTIN | SPTAN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HMGB2 | CACTIN | psi-mi:“MI:0915”(physical association) | 0.370 |
| Crnkl1 | PLRG1 | psi-mi:“MI:0914”(association) | 0.350 |
| Isy1 | PFDN6 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP4R3A | COG4 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2B | OSBPL8 | psi-mi:“MI:0914”(association) | 0.350 |
| FBL | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (147): CACTIN (Affinity Capture-MS), CACTIN (Affinity Capture-MS), CACTIN (Two-hybrid), CACTIN (Affinity Capture-MS), CACTIN (Proximity Label-MS), CACTIN (Affinity Capture-MS), CACTIN (Affinity Capture-MS), CACTIN (Affinity Capture-MS), CACTIN (Two-hybrid), TRIM39 (Affinity Capture-Western), CACTIN (Reconstituted Complex), CACTIN (Affinity Capture-Western), CACTIN (Proximity Label-MS), CACTIN (Affinity Capture-MS), CACTIN (Affinity Capture-MS)
ESM2 similar proteins: A1A4P4, A1CH36, A2ALW5, A5AAL8, B0BN56, O42911, O70279, P0C2B7, P58468, P83565, Q0CLE8, Q1ECT8, Q290P4, Q2GVC2, Q3SZ86, Q4G0I0, Q4V7Q1, Q5B4U6, Q5BJW9, Q5RFR4, Q5XJW2, Q61733, Q6RUT7, Q753F1, Q7SDU5, Q7SHR9, Q80ZS3, Q86TS9, Q8BGX2, Q8BK72, Q8CHP5, Q8SPE7, Q8TAE8, Q8VD26, Q8WUQ7, Q96AN5, Q96DF8, Q9BRP8, Q9BSF4, Q9BYN8
Diamond homologs: B6KG46, F1Q8W0, F4I2J8, G5EG14, Q8WUQ7, Q9VR99, Q9CS00, O14342
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 127 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 5 | 24.4× | 9e-05 |
| mRNA 3’-end processing | 8 | 20.2× | 6e-07 |
| RNA Polymerase II Transcription Termination | 6 | 16.9× | 8e-05 |
| mRNA Splicing | 10 | 14.1× | 4e-07 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 7 | 13.7× | 5e-05 |
| rRNA modification in the nucleus and cytosol | 5 | 12.0× | 2e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 11 | 11.6× | 4e-07 |
| mRNA Splicing - Major Pathway | 15 | 10.5× | 4e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 6 | 41.4× | 2e-06 |
| ribosomal small subunit biogenesis | 7 | 14.4× | 9e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 11.0× | 8e-03 |
| mRNA splicing, via spliceosome | 13 | 10.7× | 2e-07 |
| RNA processing | 5 | 9.9× | 1e-02 |
| RNA splicing | 10 | 8.0× | 9e-05 |
| mRNA processing | 8 | 5.7× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2223 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:3613587:C:CC | acceptor_gain | 1.0000 |
| 19:3614396:CCGGG:C | donor_gain | 1.0000 |
| 19:3614588:ACCTG:A | acceptor_loss | 1.0000 |
| 19:3618869:CGTTA:C | donor_loss | 1.0000 |
| 19:3618870:GTTAC:G | donor_loss | 1.0000 |
| 19:3618871:TTAC:T | donor_loss | 1.0000 |
| 19:3618872:TA:T | donor_loss | 1.0000 |
| 19:3618873:A:T | donor_loss | 1.0000 |
| 19:3618874:C:CG | donor_loss | 1.0000 |
| 19:3618885:G:A | donor_gain | 1.0000 |
| 19:3618985:TAGAC:T | acceptor_gain | 1.0000 |
| 19:3618986:AGAC:A | acceptor_gain | 1.0000 |
| 19:3618987:GAC:G | acceptor_gain | 1.0000 |
| 19:3618988:AC:A | acceptor_gain | 1.0000 |
| 19:3618988:ACCT:A | acceptor_loss | 1.0000 |
| 19:3618989:CC:C | acceptor_gain | 1.0000 |
| 19:3618989:CCTGG:C | acceptor_loss | 1.0000 |
| 19:3618990:C:CC | acceptor_gain | 1.0000 |
| 19:3619075:GGTAC:G | donor_loss | 1.0000 |
| 19:3619076:GTACC:G | donor_loss | 1.0000 |
| 19:3619077:TA:T | donor_loss | 1.0000 |
| 19:3619078:A:AC | donor_gain | 1.0000 |
| 19:3619078:ACC:A | donor_loss | 1.0000 |
| 19:3619079:C:CC | donor_gain | 1.0000 |
| 19:3619079:C:G | donor_loss | 1.0000 |
| 19:3619238:TGGAA:T | acceptor_gain | 1.0000 |
| 19:3619239:GGAA:G | acceptor_gain | 1.0000 |
| 19:3619239:GGAAC:G | acceptor_gain | 1.0000 |
| 19:3619240:GAA:G | acceptor_gain | 1.0000 |
| 19:3619240:GAAC:G | acceptor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000027897 (19:3628437 G>T), RS1000055477 (19:3614689 CCTCCT>C), RS1000090360 (19:3619065 G>A,C), RS1000119889 (19:3618891 G>A,C), RS1000177861 (19:3621456 G>A), RS1000228476 (19:3610921 G>A), RS1000258738 (19:3615316 C>T), RS1000467917 (19:3623331 C>A,T), RS1000470398 (19:3619411 T>A,C,G), RS1000482230 (19:3615435 C>T), RS1000556981 (19:3620003 G>A), RS1000597800 (19:3616349 G>A,C,T), RS1000774915 (19:3611498 C>T), RS1000779906 (19:3620529 A>C), RS1000842851 (19:3619594 A>C,G)
Disease associations
OMIM: gene MIM:618536 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_131 | Obesity-related traits | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004626 | IGFBP-3 measurement |
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 |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases 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 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Vehicle Emissions | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.