SMNDC1
gene geneOn this page
Also known as SPF30SMNRTDRD16C
Summary
SMNDC1 (survival motor neuron domain containing 1, HGNC:16900) is a protein-coding gene on chromosome 10q25.2, encoding Survival of motor neuron-related-splicing factor 30 (O75940). Involved in spliceosome assembly. It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene.
Source: NCBI Gene 10285 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 16 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_005871
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16900 |
| Approved symbol | SMNDC1 |
| Name | survival motor neuron domain containing 1 |
| Location | 10q25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPF30, SMNR, TDRD16C |
| Ensembl gene | ENSG00000119953 |
| Ensembl biotype | protein_coding |
| OMIM | 603519 |
| Entrez | 10285 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000369592, ENST00000369603, ENST00000460483, ENST00000471297, ENST00000477763, ENST00000674928, ENST00000889865, ENST00000934667, ENST00000934668, ENST00000934669, ENST00000934670, ENST00000934671, ENST00000934672, ENST00000934673
RefSeq mRNA: 1 — MANE Select: NM_005871
NM_005871
CCDS: CCDS7565
Canonical transcript exons
ENST00000369603 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000811825 | 110295228 | 110295381 |
| ENSE00000811826 | 110297567 | 110297728 |
| ENSE00001450419 | 110290730 | 110294287 |
| ENSE00001450428 | 110304748 | 110304920 |
| ENSE00003484819 | 110303468 | 110303587 |
| ENSE00003573712 | 110298648 | 110298790 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 97.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.9813 / max 421.0361, expressed in 1819 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111383 | 38.2458 | 1819 |
| 111381 | 3.3537 | 1546 |
| 111382 | 1.3817 | 991 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amniotic fluid | UBERON:0000173 | 97.90 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.36 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.27 | gold quality |
| cartilage tissue | UBERON:0002418 | 95.98 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.38 | gold quality |
| parietal pleura | UBERON:0002400 | 94.84 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.81 | gold quality |
| gingiva | UBERON:0001828 | 94.37 | gold quality |
| adult organism | UBERON:0007023 | 94.33 | gold quality |
| blood vessel layer | UBERON:0004797 | 94.31 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.21 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.17 | gold quality |
| pleura | UBERON:0000977 | 94.01 | gold quality |
| biceps brachii | UBERON:0001507 | 93.96 | gold quality |
| secondary oocyte | CL:0000655 | 93.88 | gold quality |
| upper leg skin | UBERON:0004262 | 93.88 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 93.87 | gold quality |
| skin of hip | UBERON:0001554 | 93.85 | gold quality |
| oral cavity | UBERON:0000167 | 93.80 | gold quality |
| visceral pleura | UBERON:0002401 | 93.80 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.73 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.68 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.62 | gold quality |
| oocyte | CL:0000023 | 93.52 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.93 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.52 | gold quality |
| seminal vesicle | UBERON:0000998 | 92.36 | gold quality |
| nephron tubule | UBERON:0001231 | 92.24 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.16 | gold quality |
| jejunum | UBERON:0002115 | 92.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
125 targeting SMNDC1, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 8)
- U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3’ splice site recognition with tri-small nuclear ribonucleoprotein addition (PMID:18211889)
- The structures of SMN and SPF30 Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) are presented. (PMID:22101937)
- The binding specificity and affinity of the Tudor domains of TDRD3, SMN and SPF30 proteins were characterized quantitatively. (PMID:22363433)
- The results show that SMNDC1 mRNA 5’-UTR forms an intramolecular, parallel G quadruplex structure comprised of three G quartet planes, which is bound specifically by FMRP both in vitro and in mouse brain lysates. (PMID:28612854)
- Low SMNDC1 expression is associated with lung cancer. (PMID:31911676)
- Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2. (PMID:33422691)
- SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression. (PMID:36044849)
- An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth. (PMID:39150991)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | smndc1 | ENSDARG00000056235 |
| mus_musculus | Smndc1 | ENSMUSG00000025024 |
| rattus_norvegicus | Smndc1 | ENSRNOG00000014833 |
| drosophila_melanogaster | Spf30 | FBGN0039977 |
| caenorhabditis_elegans | WBGENE00004891 |
Paralogs (2): SMN1 (ENSG00000172062), SMN2 (ENSG00000205571)
Protein
Protein identifiers
Survival of motor neuron-related-splicing factor 30 — O75940 (reviewed: O75940)
Alternative names: 30 kDa splicing factor SMNrp, SMN-related protein, Survival motor neuron domain-containing protein 1
All UniProt accessions (3): O75940, A0A6Q8PFX6, A0A6Q8PG47
UniProt curated annotations — full annotation on UniProt →
Function. Involved in spliceosome assembly.
Subunit / interactions. Associates with spliceosomes. Associates with U4/U5/U6 tri-snRNP and with U2 snRNP. Interacts (via Tudor domain) with SNRPD3 (via C-terminus); the interaction is direct.
Subcellular location. Nucleus speckle. Nucleus. Cajal body.
Tissue specificity. Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas.
Domain organisation. The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.
Similarity. Belongs to the SMN family.
RefSeq proteins (1): NP_005862* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002999 | Tudor | Domain |
| IPR010304 | SMN_Tudor | Domain |
Pfam: PF06003
UniProt features (15 total): strand 4, turn 3, modified residue 2, chain 1, domain 1, helix 1, short sequence motif 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4A4F | SOLUTION NMR | |
| 4A4H | SOLUTION NMR | |
| 8POI | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75940-F1 | 77.86 | 0.38 |
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 (2): 201, 219
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 108–117 | increases binding to substrate containing dimethylated arginine. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-9770562 | mRNA Polyadenylation |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
| R-HSA-9943411 | CHD1 and CHD2 subfamily |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 199 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, MORF_RAD21, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK, MORF_TERF1, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, MORF_RAF1, INAMURA_LUNG_CANCER_SCC_SUBTYPES_UP, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, SCHLOSSER_SERUM_RESPONSE_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP
GO Biological Process (4): RNA splicing, via transesterification reactions (GO:0000375), mRNA processing (GO:0006397), apoptotic process (GO:0006915), RNA splicing (GO:0008380)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), cytoplasm (GO:0005737), Cajal body (GO:0015030), nuclear speck (GO:0016607)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| mRNA 3’-end processing | 1 |
| Dengue Virus Infection | 1 |
| CHD chromatin remodelers | 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 |
|---|---|
| RNA processing | 2 |
| cellular anatomical structure | 2 |
| nuclear ribonucleoprotein granule | 2 |
| RNA splicing | 1 |
| mRNA metabolic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1462 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SMNDC1 | TDRD3 | Q9H7E2 | 673 |
| SMNDC1 | TCERG1 | O14776 | 629 |
| SMNDC1 | U2AF1 | Q01081 | 543 |
| SMNDC1 | PI15 | O43692 | 515 |
| SMNDC1 | EFTUD2 | Q15029 | 515 |
| SMNDC1 | PCF11 | O94913 | 513 |
| SMNDC1 | SND1 | Q7KZF4 | 508 |
| SMNDC1 | SNRPA1 | P09661 | 504 |
| SMNDC1 | CSTF2 | P33240 | 497 |
| SMNDC1 | PRPF8 | Q6P2Q9 | 494 |
| SMNDC1 | SMN1 | Q16637 | 491 |
| SMNDC1 | FIP1L1 | Q6UN15 | 483 |
| SMNDC1 | SF3B4 | Q15427 | 464 |
| SMNDC1 | DDX46 | Q7L014 | 455 |
| SMNDC1 | PHF19 | Q5T6S3 | 423 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SMNDC1 | SF3B1 | psi-mi:“MI:0914”(association) | 0.790 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SMNDC1 | PRPF3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| PRPF3 | SMNDC1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SMNDC1 | SF3A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMNDC1 | NCL | psi-mi:“MI:0915”(physical association) | 0.540 |
| U2SURP | SMNDC1 | psi-mi:“MI:0914”(association) | 0.480 |
| SMNDC1 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| KPNB1 | SMNDC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNRPB | SMNDC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LDHD | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | RSL1D1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF19 | NUP42 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| LIN28A | MEX3A | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG13 | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| PRP4K | YTHDC1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM39 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| SF3A1 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPA | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPB | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPC | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPF | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC14A2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC26A11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SF3B1 | RBM10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (157): SMNDC1 (Affinity Capture-RNA), NFATC2IP (Co-fractionation), RACGAP1 (Co-fractionation), RBM42 (Co-fractionation), RRBP1 (Co-fractionation), SMNDC1 (Co-fractionation), SMNDC1 (Proximity Label-MS), SMNDC1 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B2 (Affinity Capture-MS), RPL3 (Affinity Capture-MS), TSR1 (Affinity Capture-MS), EWSR1 (Affinity Capture-MS), CDK5RAP3 (Affinity Capture-MS), FDFT1 (Affinity Capture-MS)
ESM2 similar proteins: A5D989, A6QLI8, A8B976, B4NSP6, C4Y9X0, C5DJL0, O02108, O75940, O82486, P0CP06, P0CP07, P29083, P29692, P29693, P32192, P34827, P35600, P53787, P57776, P82804, Q09689, Q22918, Q24276, Q40682, Q45FF9, Q4P3H6, Q4QQU6, Q4R3D4, Q5AX35, Q5BFH3, Q5R591, Q5R8H5, Q68FR9, Q6C3L4, Q6DEY1, Q6NQK0, Q6NWJ4, Q717R8, Q7RUX3, Q7ZV80
Diamond homologs: O02771, O18870, O35876, O75940, P97801, Q16637, Q3T045, Q4QQU6, Q4R4F8, Q5R591, Q5RE18, Q66HC1, Q6DEY1, Q7ZV80, Q8BGT7, Q8HYB8, Q9W6S8, Q2HJG4, Q6NYG6, Q91W18, Q9VV74, Q5ZMS6, Q6NRP6, Q6P1U3, Q7SXW2, A4IF98, Q58EK5, Q5ZHV8, Q7ZVM9, Q9H7E2, Q9H9A7, P91399, Q9D4G9, A9CPT4, A1XD93, A1XD94, A1XD95, A1XD97, A4UMC5, A4UMC6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 79 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 Splicing - Minor Pathway | 8 | 30.9× | 6e-09 |
| mRNA Splicing | 15 | 28.4× | 2e-16 |
| mRNA Polyadenylation | 17 | 25.8× | 7e-18 |
| Processing of Capped Intron-Containing Pre-mRNA | 17 | 24.1× | 2e-17 |
| CHD1 and CHD2 subfamily | 12 | 22.5× | 7e-12 |
| mRNA Splicing - Major Pathway | 21 | 19.8× | 8e-20 |
| Metabolism of RNA | 19 | 13.7× | 3e-15 |
| Dengue Virus-Host Interactions | 14 | 11.0× | 9e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 11 | 94.0× | 1e-17 |
| RNA splicing, via transesterification reactions | 5 | 42.8× | 9e-06 |
| mRNA splicing, via spliceosome | 20 | 25.1× | 2e-20 |
| RNA splicing | 14 | 16.9× | 1e-11 |
| mRNA processing | 11 | 11.9× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
931 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:110294285:TACC:T | acceptor_loss | 1.0000 |
| 10:110294286:ACC:A | acceptor_loss | 1.0000 |
| 10:110294289:T:A | acceptor_loss | 1.0000 |
| 10:110295224:CAA:C | donor_loss | 1.0000 |
| 10:110295227:C:A | donor_loss | 1.0000 |
| 10:110295227:CCTGG:C | donor_gain | 1.0000 |
| 10:110295377:CTTTT:C | acceptor_gain | 1.0000 |
| 10:110295378:TTTT:T | acceptor_gain | 1.0000 |
| 10:110295379:TTT:T | acceptor_gain | 1.0000 |
| 10:110295380:TT:T | acceptor_gain | 1.0000 |
| 10:110295382:C:CC | acceptor_gain | 1.0000 |
| 10:110295382:CT:C | acceptor_loss | 1.0000 |
| 10:110295385:C:CT | acceptor_gain | 1.0000 |
| 10:110295386:A:AC | acceptor_gain | 1.0000 |
| 10:110295386:A:C | acceptor_gain | 1.0000 |
| 10:110297562:CTTA:C | donor_gain | 1.0000 |
| 10:110297565:A:AC | donor_gain | 1.0000 |
| 10:110297566:C:CT | donor_gain | 1.0000 |
| 10:110297566:CT:C | donor_gain | 1.0000 |
| 10:110297566:CTT:C | donor_gain | 1.0000 |
| 10:110297566:CTTT:C | donor_gain | 1.0000 |
| 10:110297566:CTTTG:C | donor_gain | 1.0000 |
| 10:110297568:TTG:T | donor_gain | 1.0000 |
| 10:110297724:AACAC:A | acceptor_gain | 1.0000 |
| 10:110297725:ACAC:A | acceptor_gain | 1.0000 |
| 10:110297726:CAC:C | acceptor_gain | 1.0000 |
| 10:110297726:CACC:C | acceptor_gain | 1.0000 |
| 10:110297727:AC:A | acceptor_gain | 1.0000 |
| 10:110297728:CC:C | acceptor_gain | 1.0000 |
| 10:110297729:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
1570 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:110294205:A:G | M221T | 1.000 |
| 10:110294226:C:T | C214Y | 1.000 |
| 10:110294227:A:G | C214R | 1.000 |
| 10:110294232:C:T | G212E | 1.000 |
| 10:110294233:C:G | G212R | 1.000 |
| 10:110294233:C:T | G212R | 1.000 |
| 10:110294238:C:T | G210E | 1.000 |
| 10:110294239:C:G | G210R | 1.000 |
| 10:110294239:C:T | G210R | 1.000 |
| 10:110294247:C:T | G207D | 1.000 |
| 10:110294248:C:G | G207R | 1.000 |
| 10:110294270:A:C | F199L | 1.000 |
| 10:110294270:A:T | F199L | 1.000 |
| 10:110294271:A:C | F199C | 1.000 |
| 10:110294271:A:G | F199S | 1.000 |
| 10:110294272:A:C | F199V | 1.000 |
| 10:110294272:A:G | F199L | 1.000 |
| 10:110294272:A:T | F199I | 1.000 |
| 10:110294274:A:G | I198T | 1.000 |
| 10:110294274:A:T | I198N | 1.000 |
| 10:110294276:A:C | S197R | 1.000 |
| 10:110294276:A:T | S197R | 1.000 |
| 10:110294278:T:G | S197R | 1.000 |
| 10:110295264:G:C | F181L | 1.000 |
| 10:110295264:G:T | F181L | 1.000 |
| 10:110295265:A:C | F181C | 1.000 |
| 10:110295265:A:G | F181S | 1.000 |
| 10:110295266:A:G | F181L | 1.000 |
| 10:110295273:C:A | W178C | 1.000 |
| 10:110295273:C:G | W178C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000033651 (10:110301965 A>C), RS1000536634 (10:110296529 A>G), RS1000644394 (10:110303041 C>A,T), RS1001060076 (10:110298353 CCATT>C), RS1001086216 (10:110303837 G>A,T), RS1001243681 (10:110291569 C>A,G), RS1001484272 (10:110304674 T>C), RS1001794812 (10:110293302 C>A,T), RS1001879558 (10:110303056 T>A,C), RS1001910858 (10:110292955 G>A,C,T), RS1001989542 (10:110295973 A>G), RS1002081990 (10:110305645 T>C), RS1002138160 (10:110299546 G>A), RS1002242222 (10:110305338 T>G), RS1002538968 (10:110299655 T>A,C,G)
Disease associations
OMIM: gene MIM:603519 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002094_7 | Crohn’s disease | 2.000000e-10 |
| GCST010002_224 | Refractive error | 2.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105959 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| fenpyroximate | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| picoxystrobin | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenobarbital | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
| tert-Butylhydroperoxide | increases expression | 1 |
ChEMBL screening assays
9 unique, capped per target: 9 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4012565 | Binding | Binding affinity to survival of motor neuron-related-splicing factor 30 in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
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.