LSM6
gene geneOn this page
Also known as YDR378C
Summary
LSM6 (LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated, HGNC:17017) is a protein-coding gene on chromosome 4q31.22, encoding U6 snRNA-associated Sm-like protein LSm6 (P62312). Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). It is a common-essential gene (DepMap: required in 93.9% of cancer cell lines).
Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.
Source: NCBI Gene 11157 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 11 total
- Cancer dependency (DepMap): dependent in 93.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_007080
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17017 |
| Approved symbol | LSM6 |
| Name | LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated |
| Location | 4q31.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | YDR378C |
| Ensembl gene | ENSG00000164167 |
| Ensembl biotype | protein_coding |
| OMIM | 607286 |
| Entrez | 11157 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 21 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000296581, ENST00000502781, ENST00000503982, ENST00000504181, ENST00000507449, ENST00000510331, ENST00000515311, ENST00000649747, ENST00000850848, ENST00000871396, ENST00000871397, ENST00000871398, ENST00000871399, ENST00000871400, ENST00000871401, ENST00000871402, ENST00000871403, ENST00000871404, ENST00000871405, ENST00000937836, ENST00000937837, ENST00000937838, ENST00000937839, ENST00000937840, ENST00000937841, ENST00000946380, ENST00000946381
RefSeq mRNA: 1 — MANE Select: NM_007080
NM_007080
CCDS: CCDS3767
Canonical transcript exons
ENST00000296581 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001082009 | 146182912 | 146183015 |
| ENSE00001082010 | 146187274 | 146187387 |
| ENSE00001678867 | 146175718 | 146175811 |
| ENSE00002023645 | 146189622 | 146191535 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 97.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.7543 / max 465.2137, expressed in 1819 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 49921 | 37.7543 | 1819 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.93 | gold quality |
| mononuclear cell | CL:0000842 | 97.67 | gold quality |
| leukocyte | CL:0000738 | 97.54 | gold quality |
| granulocyte | CL:0000094 | 94.99 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.89 | gold quality |
| lymph node | UBERON:0000029 | 93.63 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.50 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.49 | gold quality |
| caecum | UBERON:0001153 | 93.47 | gold quality |
| peritoneum | UBERON:0002358 | 93.45 | gold quality |
| omental fat pad | UBERON:0010414 | 93.45 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.26 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.95 | gold quality |
| right lung | UBERON:0002167 | 92.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.81 | gold quality |
| adult organism | UBERON:0007023 | 92.73 | gold quality |
| adipose tissue | UBERON:0001013 | 92.67 | gold quality |
| connective tissue | UBERON:0002384 | 92.54 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.50 | gold quality |
| spleen | UBERON:0002106 | 92.41 | gold quality |
| bone marrow | UBERON:0002371 | 92.25 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.23 | gold quality |
| ventricular zone | UBERON:0003053 | 92.05 | gold quality |
| embryo | UBERON:0000922 | 91.86 | gold quality |
| oocyte | CL:0000023 | 91.76 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 91.57 | gold quality |
| tendon | UBERON:0000043 | 91.46 | gold quality |
| left ovary | UBERON:0002119 | 91.43 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.32 | gold quality |
| right ovary | UBERON:0002118 | 91.29 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 18.48 |
| E-ANND-3 | yes | 8.48 |
| E-CURD-88 | yes | 8.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting LSM6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-3136-5P | 98.53 | 67.68 | 793 |
| HSA-MIR-4439 | 98.53 | 67.53 | 793 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-224-5P | 98.33 | 70.12 | 1256 |
| HSA-MIR-6834-3P | 98.16 | 65.77 | 551 |
| HSA-MIR-1287-5P | 96.80 | 65.30 | 743 |
| HSA-MIR-550B-3P | 95.43 | 67.73 | 599 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 93.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- LSm1-7 proteins colocalize with DCP1,DCP2 and Xrn1 in cytoplasmic foci (PMID:12515382)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lsm6 | ENSDARG00000036995 |
| mus_musculus | Lsm6 | ENSMUSG00000031683 |
| rattus_norvegicus | Lsm6 | ENSRNOG00000030374 |
| drosophila_melanogaster | CG9344 | FBGN0034564 |
| caenorhabditis_elegans | lsm-6 | WBGENE00003080 |
Paralogs (1): SNRPF (ENSG00000139343)
Protein
Protein identifiers
U6 snRNA-associated Sm-like protein LSm6 — P62312 (reviewed: P62312)
All UniProt accessions (1): P62312
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3’-terminal U-tract of U6 snRNA. Component of LSm protein complexes, which are involved in RNA processing and may function in a chaperone-like manner, facilitating the efficient association of RNA processing factors with their substrates. Component of the cytoplasmic LSM1-LSM7 complex, which is thought to be involved in mRNA degradation by activating the decapping step in the 5’-to-3’ mRNA decay pathway.
Subunit / interactions. Component of the precatalytic spliceosome (spliceosome B complex). Component of the U4/U6-U5 tri-snRNP complex, a building block of the precatalytic spliceosome (spliceosome B complex). The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8. LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 form a heptameric, ring-shaped subcomplex (the LSM2-8 complex) that is part of the U4/U6-U5 tri-snRNP complex and the precatalytic spliceosome. Component of the heptameric LSM1-LSM7 complex, which consists of LSM1, LSM2, LSM3, LSM4, LSM5, LSM6 and LSM7.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the snRNP Sm proteins family. SmF/LSm6 subfamily.
RefSeq proteins (1): NP_009011* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001163 | Sm_dom_euk/arc | Domain |
| IPR010920 | LSM_dom_sf | Homologous_superfamily |
| IPR016487 | Lsm6/sSmF | Family |
| IPR047575 | Sm | Domain |
Pfam: PF01423
UniProt features (3 total): chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
20 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8H6L | ELECTRON MICROSCOPY | 2.6 |
| 8H6K | ELECTRON MICROSCOPY | 2.7 |
| 6QW6 | ELECTRON MICROSCOPY | 2.92 |
| 8H6E | ELECTRON MICROSCOPY | 3.2 |
| 8H6J | ELECTRON MICROSCOPY | 3.25 |
| 6QX9 | ELECTRON MICROSCOPY | 3.28 |
| 6AHD | ELECTRON MICROSCOPY | 3.8 |
| 8QZS | ELECTRON MICROSCOPY | 4.1 |
| 8R09 | ELECTRON MICROSCOPY | 4.3 |
| 8R0B | ELECTRON MICROSCOPY | 4.4 |
| 5O9Z | ELECTRON MICROSCOPY | 4.5 |
| 8QO9 | ELECTRON MICROSCOPY | 5.29 |
| 6AH0 | ELECTRON MICROSCOPY | 5.7 |
| 8R0A | ELECTRON MICROSCOPY | 5.8 |
| 8R08 | ELECTRON MICROSCOPY | 6.1 |
| 8RM5 | ELECTRON MICROSCOPY | 6.9 |
| 3JCR | ELECTRON MICROSCOPY | 7 |
| 7ABG | ELECTRON MICROSCOPY | 7.8 |
| 9R8V | ELECTRON MICROSCOPY | 8.5 |
| 8QXD | ELECTRON MICROSCOPY | 9.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62312-F1 | 91.51 | 0.76 |
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 (1): 59
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-430039 | mRNA decay by 5’ to 3’ exoribonuclease |
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-429914 | Deadenylation-dependent mRNA decay |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 156 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MATURATION_OF_SSU_RRNA, GOBP_TRNA_METABOLIC_PROCESS, REACTOME_MRNA_DECAY_BY_5_TO_3_EXORIBONUCLEASE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, EFC_Q6, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, IRF7_01, MUELLER_PLURINET, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS
GO Biological Process (7): mRNA splicing, via spliceosome (GO:0000398), mRNA catabolic process (GO:0006402), tRNA processing (GO:0008033), RNA splicing (GO:0008380), maturation of SSU-rRNA (GO:0030490), rRNA processing (GO:0006364), mRNA processing (GO:0006397)
GO Molecular Function (3): RNA binding (GO:0003723), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (14): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U6 snRNP (GO:0005688), nucleolus (GO:0005730), sno(s)RNA-containing ribonucleoprotein complex (GO:0005732), cytoplasm (GO:0005737), cytosol (GO:0005829), small nuclear ribonucleoprotein complex (GO:0030532), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), Lsm2-8 complex (GO:0120115), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 2 |
| Deadenylation-dependent mRNA decay | 1 |
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 4 |
| cellular anatomical structure | 3 |
| ribonucleoprotein complex | 3 |
| mRNA metabolic process | 2 |
| nuclear lumen | 2 |
| nuclear protein-containing complex | 2 |
| Sm-like protein family complex | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| RNA catabolic process | 1 |
| negative regulation of gene expression | 1 |
| tRNA metabolic process | 1 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| spliceosomal snRNP complex | 1 |
| Lsm2-8 complex | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| U5 snRNP | 1 |
| U4/U6 snRNP | 1 |
| spliceosomal tri-snRNP complex | 1 |
| U2-type spliceosomal complex | 1 |
| U1 snRNP | 1 |
| U2 snRNP | 1 |
| U4/U6 x U5 tri-snRNP complex | 1 |
| precatalytic spliceosome | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1990 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSM6 | LSM7 | Q9UK45 | 998 |
| LSM6 | LSM3 | P62310 | 997 |
| LSM6 | LSM2 | Q9Y333 | 996 |
| LSM6 | LSM5 | Q9Y4Y9 | 996 |
| LSM6 | LSM4 | Q9Y4Z0 | 994 |
| LSM6 | LSM8 | O95777 | 986 |
| LSM6 | LSM1 | O15116 | 981 |
| LSM6 | XRN1 | Q8IZH2 | 951 |
| LSM6 | SNRPD2 | P43330 | 914 |
| LSM6 | SNRPE | P08578 | 756 |
| LSM6 | SNRPG | P62308 | 671 |
| LSM6 | SNRPD1 | P13641 | 667 |
| LSM6 | SNRPD3 | P43331 | 666 |
| LSM6 | NHP2 | Q9NX24 | 661 |
| LSM6 | LSM12 | Q3MHD2 | 637 |
IntAct
126 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LSM1 | LSM3 | psi-mi:“MI:0915”(physical association) | 0.950 |
| LSM3 | LSM1 | psi-mi:“MI:0914”(association) | 0.950 |
| CLNS1A | LSM6 | psi-mi:“MI:0915”(physical association) | 0.930 |
| LSM6 | CLNS1A | psi-mi:“MI:0915”(physical association) | 0.930 |
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| LSM6 | LSM5 | psi-mi:“MI:0915”(physical association) | 0.900 |
| LSM5 | LSM6 | psi-mi:“MI:0915”(physical association) | 0.900 |
| LSM3 | LSM6 | psi-mi:“MI:0915”(physical association) | 0.870 |
| LSM6 | LSM3 | psi-mi:“MI:0915”(physical association) | 0.870 |
| LSM6 | LSM2 | psi-mi:“MI:0915”(physical association) | 0.870 |
| LSM2 | LSM6 | psi-mi:“MI:0915”(physical association) | 0.870 |
| LSM1 | LSM6 | psi-mi:“MI:0914”(association) | 0.840 |
| LSM6 | LSM1 | psi-mi:“MI:0914”(association) | 0.840 |
| SNRPD2 | LSM6 | psi-mi:“MI:0915”(physical association) | 0.800 |
| LSM7 | LSM6 | psi-mi:“MI:0915”(physical association) | 0.800 |
| LSM2 | LSM8 | psi-mi:“MI:0915”(physical association) | 0.790 |
| PATL1 | LSM6 | psi-mi:“MI:0915”(physical association) | 0.740 |
BioGRID (203): LSM6 (Two-hybrid), LSM6 (Two-hybrid), LSM5 (Two-hybrid), LSM3 (Two-hybrid), HERC4 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM6 (Co-fractionation), LSM7 (Co-fractionation)
ESM2 similar proteins: A1CE19, A1DM27, A4RQ29, A5DRQ6, A6R363, A6S5C9, A7F5M4, A7TK72, A7UXE4, A8NHT8, B0DWN3, C5A1H1, C6A1T2, O22823, O26745, O43080, O59734, O74966, O82221, P0CR24, P0CR25, P24715, P34659, P54999, P57670, P57743, P62312, P62313, Q06406, Q0UWI9, Q0W8R9, Q12U30, Q1DRN0, Q24297, Q2HAN0, Q465S1, Q4PG71, Q4WNI0, Q54RX0, Q54XP2
Diamond homologs: A1CE19, A1DM27, A4RQ29, A5DRQ6, A6R363, A6S5C9, A6ZYX7, A7F5M4, A7TK72, A7UXE4, A8NHT8, B0DWN3, C6A1T2, O22823, O26745, O59734, P0CR24, P0CR25, P34659, P54999, P62306, P62307, P62312, P62313, P62321, Q06406, Q0UWI9, Q0W8R9, Q1DRN0, Q1H595, Q24297, Q2HAN0, Q3T0Z8, Q465S1, Q4PG71, Q4WNI0, Q54TF6, Q54XP2, Q552U1, Q6BR90
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LSM6 | “form complex” | “U4/U6.U5 snRNP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 decay by 5’ to 3’ exoribonuclease | 7 | 91.9× | 2e-11 |
| Metabolism of non-coding RNA | 5 | 54.7× | 7e-07 |
| mRNA Splicing | 15 | 28.4× | 3e-16 |
| snRNP Assembly | 7 | 25.5× | 3e-07 |
| mRNA Splicing - Major Pathway | 26 | 24.5× | 5e-28 |
| mRNA Splicing - Minor Pathway | 6 | 23.2× | 5e-06 |
| SARS-CoV-2 modulates host translation machinery | 6 | 23.2× | 5e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 15 | 21.2× | 1e-14 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 12 | 107.3× | 3e-20 |
| spliceosomal tri-snRNP complex assembly | 6 | 103.7× | 1e-09 |
| RNA splicing, via transesterification reactions | 5 | 48.0× | 3e-06 |
| U2-type prespliceosome assembly | 5 | 48.0× | 3e-06 |
| mRNA splicing, via spliceosome | 27 | 38.0× | 5e-34 |
| RNA splicing | 13 | 17.6× | 4e-11 |
| mRNA processing | 9 | 10.9× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1060 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:146182898:A:AG | acceptor_gain | 1.0000 |
| 4:146182899:T:G | acceptor_gain | 1.0000 |
| 4:146182900:A:AG | acceptor_gain | 1.0000 |
| 4:146182900:ATTTT:A | acceptor_gain | 1.0000 |
| 4:146182901:T:G | acceptor_gain | 1.0000 |
| 4:146182908:TTAGG:T | acceptor_loss | 1.0000 |
| 4:146182909:TA:T | acceptor_loss | 1.0000 |
| 4:146182910:A:T | acceptor_loss | 1.0000 |
| 4:146182910:AG:A | acceptor_gain | 1.0000 |
| 4:146182911:GG:G | acceptor_gain | 1.0000 |
| 4:146182911:GGATT:G | acceptor_gain | 1.0000 |
| 4:146183012:CGAG:C | donor_loss | 1.0000 |
| 4:146183013:GAGGT:G | donor_loss | 1.0000 |
| 4:146183014:AGGTA:A | donor_loss | 1.0000 |
| 4:146183015:GGTAA:G | donor_loss | 1.0000 |
| 4:146183016:G:GC | donor_loss | 1.0000 |
| 4:146187255:T:A | acceptor_gain | 1.0000 |
| 4:146187263:T:G | acceptor_gain | 1.0000 |
| 4:146187264:A:AG | acceptor_gain | 1.0000 |
| 4:146187265:T:G | acceptor_gain | 1.0000 |
| 4:146187350:GAA:G | donor_gain | 1.0000 |
| 4:146187352:A:AG | donor_gain | 1.0000 |
| 4:146187352:A:G | donor_gain | 1.0000 |
| 4:146187356:G:GG | donor_gain | 1.0000 |
| 4:146187423:A:AG | donor_gain | 1.0000 |
| 4:146189620:A:AG | acceptor_gain | 1.0000 |
| 4:146189621:G:GC | acceptor_gain | 1.0000 |
| 4:146189621:GT:G | acceptor_gain | 1.0000 |
| 4:146189621:GTGT:G | acceptor_gain | 1.0000 |
| 4:146189621:GTGTT:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000093972 (4:146184829 T>C), RS1000228689 (4:146191054 G>A), RS1000478913 (4:146174037 T>C,G), RS1000577964 (4:146181951 TGTTA>T), RS1000696327 (4:146174312 A>G), RS1000710351 (4:146181683 A>G), RS1001052965 (4:146180263 T>C,G), RS1001157993 (4:146186618 A>T), RS1001226215 (4:146178477 G>C), RS1001351746 (4:146192006 T>C), RS1001379050 (4:146184811 AT>A), RS1001381277 (4:146175802 C>T), RS10015395 (4:146174229 A>C), RS1001586253 (4:146173918 T>C), RS1001736358 (4:146190807 C>T)
Disease associations
OMIM: gene MIM:607286 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003807_2 | Systolic blood pressure response to hydrochlorothiazide in hypertension | 5.000000e-06 |
| GCST010725_4 | Malaria | 4.000000e-10 |
| GCST010725_84 | Malaria | 7.000000e-11 |
| GCST010725_89 | Malaria | 7.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006944 | systolic blood pressure change measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression | 4 |
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases methylation | 2 |
| Tretinoin | decreases expression | 2 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| pinosylvin | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| pyrimidifen | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Gold | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | 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.