SF3B5
geneOn this page
Also known as SF3b10MGC3133Ysf3
Summary
SF3B5 (splicing factor 3b subunit 5, HGNC:21083) is a protein-coding gene on chromosome 6q24.2, encoding Splicing factor 3B subunit 5 (Q9BWJ5). Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
Enables RNA binding activity and splicing factor binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U12-type spliceosomal complex and U2-type precatalytic spliceosome.
Source: NCBI Gene 83443 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 2 total — 1 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_031287
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21083 |
| Approved symbol | SF3B5 |
| Name | splicing factor 3b subunit 5 |
| Location | 6q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SF3b10, MGC3133, Ysf3 |
| Ensembl gene | ENSG00000169976 |
| Ensembl biotype | protein_coding |
| OMIM | 617847 |
| Entrez | 83443 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000367569
RefSeq mRNA: 1 — MANE Select: NM_031287
NM_031287
CCDS: CCDS5204
Canonical transcript exons
ENST00000367569 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002049869 | 144094884 | 144095573 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 98.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 147.6282 / max 925.7249, expressed in 1825 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 76054 | 117.2888 | 1825 |
| 76056 | 25.7331 | 1815 |
| 76055 | 1.8071 | 1299 |
| 204230 | 1.5100 | 851 |
| 76053 | 1.2892 | 626 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 98.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.49 | gold quality |
| granulocyte | CL:0000094 | 98.31 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.23 | gold quality |
| pituitary gland | UBERON:0000007 | 98.19 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.16 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.13 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.03 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.02 | gold quality |
| body of pancreas | UBERON:0001150 | 97.84 | gold quality |
| skin of leg | UBERON:0001511 | 97.75 | gold quality |
| adult organism | UBERON:0007023 | 97.74 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.72 | gold quality |
| monocyte | CL:0000576 | 97.66 | gold quality |
| transverse colon | UBERON:0001157 | 97.65 | gold quality |
| mononuclear cell | CL:0000842 | 97.64 | gold quality |
| rectum | UBERON:0001052 | 97.64 | gold quality |
| leukocyte | CL:0000738 | 97.63 | gold quality |
| apex of heart | UBERON:0002098 | 97.61 | gold quality |
| gall bladder | UBERON:0002110 | 97.52 | gold quality |
| left coronary artery | UBERON:0001626 | 97.49 | gold quality |
| body of stomach | UBERON:0001161 | 97.47 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.45 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.43 | gold quality |
| lower esophagus | UBERON:0013473 | 97.42 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.41 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.37 | gold quality |
| coronary artery | UBERON:0001621 | 97.35 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.35 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 346.67 |
| E-HCAD-13 | no | 2.86 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
5 targeting SF3B5, 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-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sf3b5 | ENSDARG00000016855 |
| mus_musculus | Sf3b5 | ENSMUSG00000078348 |
| rattus_norvegicus | Sf3b5 | ENSRNOG00000014908 |
| drosophila_melanogaster | Sf3b5 | FBGN0040534 |
Protein
Protein identifiers
Splicing factor 3B subunit 5 — Q9BWJ5 (reviewed: Q9BWJ5)
Alternative names: Pre-mRNA-splicing factor SF3b 10 kDa subunit
All UniProt accessions (1): Q9BWJ5
UniProt curated annotations — full annotation on UniProt →
Function. Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B4 is part of the SF3B subcomplex, which is required for ‘A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs.
Subunit / interactions. Component of the 17S U2 SnRNP complex, a ribonucleoprotein complex that contains small nuclear RNA (snRNA) U2 and a number of specific proteins. Part of the SF3B subcomplex of the 17S U2 SnRNP complex. SF3B associates with the splicing subcomplex SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Within the SF3B subcomplex, interacts directly with SF3B1 (via HEAT domain) and SF3B3. Component of the minor spliceosome, which splices U12-type introns.
Subcellular location. Nucleus.
Similarity. Belongs to the SF3B5 family.
RefSeq proteins (1): NP_112577* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009846 | SF3b5/RDS3-10 | Family |
| IPR017089 | Splicing_factor_3B_subunit_5 | Family |
Pfam: PF07189
UniProt features (13 total): helix 4, modified residue 3, site 2, initiator methionine 1, chain 1, strand 1, region of interest 1
Structure
Experimental structures (PDB)
67 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7Q4O | ELECTRON MICROSCOPY | 2.1 |
| 7Q4P | ELECTRON MICROSCOPY | 2.15 |
| 7Q3L | ELECTRON MICROSCOPY | 2.21 |
| 7B9C | X-RAY DIFFRACTION | 2.4 |
| 9RDK | ELECTRON MICROSCOPY | 2.41 |
| 7EVO | ELECTRON MICROSCOPY | 2.5 |
| 7EVN | ELECTRON MICROSCOPY | 2.6 |
| 8H6L | ELECTRON MICROSCOPY | 2.6 |
| 8H6K | ELECTRON MICROSCOPY | 2.7 |
| 8HK1 | ELECTRON MICROSCOPY | 2.7 |
| 7DVQ | ELECTRON MICROSCOPY | 2.89 |
| 7B0I | X-RAY DIFFRACTION | 3 |
| 7B91 | X-RAY DIFFRACTION | 3 |
| 7B92 | X-RAY DIFFRACTION | 3 |
| 7OMF | X-RAY DIFFRACTION | 3 |
| 7VPX | ELECTRON MICROSCOPY | 3 |
| 8I0R | ELECTRON MICROSCOPY | 3 |
| 8I0T | ELECTRON MICROSCOPY | 3 |
| 8I0V | ELECTRON MICROSCOPY | 3 |
| 6EN4 | X-RAY DIFFRACTION | 3.08 |
| 5IFE | X-RAY DIFFRACTION | 3.1 |
| 7ONB | ELECTRON MICROSCOPY | 3.1 |
| 7OPI | X-RAY DIFFRACTION | 3.1 |
| 7QTT | ELECTRON MICROSCOPY | 3.1 |
| 9K1Y | ELECTRON MICROSCOPY | 3.1 |
| 8H6E | ELECTRON MICROSCOPY | 3.2 |
| 8H6J | ELECTRON MICROSCOPY | 3.25 |
| 9ZE2 | ELECTRON MICROSCOPY | 3.26 |
| 6QX9 | ELECTRON MICROSCOPY | 3.28 |
| 8I0U | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BWJ5-F1 | 91.54 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 5 (interaction with rna); 20 (interaction with rna)
Post-translational modifications (3): 2, 9, 17
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72165 | mRNA Splicing - Minor 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: 142 (showing top):
MODULE_151, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_REGULATION_OF_DNA_REPAIR, WEI_MYCN_TARGETS_WITH_E_BOX, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, GOBP_DNA_DAMAGE_RESPONSE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, REACTOME_MRNA_SPLICING, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS
GO Biological Process (7): mRNA splicing, via spliceosome (GO:0000398), regulation of DNA repair (GO:0006282), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), U2-type prespliceosome assembly (GO:1903241), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (3): RNA binding (GO:0003723), splicing factor binding (GO:1990935), protein binding (GO:0005515)
GO Cellular Component (9): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U2-type spliceosomal complex (GO:0005684), U2 snRNP (GO:0005686), U12-type spliceosomal complex (GO:0005689), U2-type precatalytic spliceosome (GO:0071005), precatalytic spliceosome (GO:0071011)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 2 |
| 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 |
|---|---|
| spliceosomal complex | 3 |
| RNA processing | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| DNA repair | 1 |
| regulation of DNA metabolic process | 1 |
| regulation of cellular response to stress | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| spliceosomal complex assembly | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| binding | 1 |
| SAGA-type complex | 1 |
| DUBm complex | 1 |
| peptidase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| spliceosomal 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 interactions and networks
STRING
2727 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SF3B5 | SF3B3 | Q15393 | 997 |
| SF3B5 | SF3B2 | Q13435 | 996 |
| SF3B5 | PHF5A | Q7RTV0 | 995 |
| SF3B5 | SF3B4 | Q15427 | 995 |
| SF3B5 | SF3B6 | Q9Y3B4 | 992 |
| SF3B5 | SF3B1 | O75533 | 973 |
| SF3B5 | SF3A2 | Q15428 | 807 |
| SF3B5 | SGF29 | Q96ES7 | 806 |
| SF3B5 | SF3A3 | Q12874 | 801 |
| SF3B5 | SF3A1 | Q15459 | 778 |
| SF3B5 | DDX46 | Q7L014 | 653 |
| SF3B5 | RBMX2 | Q9Y388 | 617 |
| SF3B5 | BUD13 | Q9BRD0 | 580 |
| SF3B5 | U2AF2 | P26368 | 532 |
| SF3B5 | SNRNP200 | O75643 | 479 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| TAF12 | TAF4 | psi-mi:“MI:0914”(association) | 0.760 |
| CCDC97 | SF3B1 | psi-mi:“MI:0914”(association) | 0.730 |
| PHF5A | SF3B1 | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC8 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| NIPSNAP2 | HSPD1 | psi-mi:“MI:0914”(association) | 0.610 |
| PPP4R2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.570 |
| PPP4R2 | SF3B1 | psi-mi:“MI:2364”(proximity) | 0.570 |
| STAMBPL1 | SF3B5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC6A | SF3B5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SF3B5 | SF3A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IWS1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPN | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| Sf3a1 | U2SURP | psi-mi:“MI:0915”(physical association) | 0.400 |
| FER1L5 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CHTOP | SAP18 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SF1 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| ZC3H18 | SAP18 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (231): SF3B5 (Affinity Capture-MS), SF3B5 (Affinity Capture-MS), SF3B5 (Affinity Capture-MS), SF3B5 (Affinity Capture-MS), SF3B5 (Co-fractionation), SF3B5 (Co-fractionation), SF3B5 (Co-fractionation), SF3B5 (Co-fractionation), SF3B5 (Co-fractionation), SF3B5 (Co-fractionation), SF3B5 (Co-fractionation), SF3B5 (Affinity Capture-MS), SF3B5 (Affinity Capture-MS), SF3B5 (Affinity Capture-MS), SF3B5 (Proximity Label-MS)
ESM2 similar proteins: A0AJC4, A2RJA2, A8AYT5, A9VLF7, B7GK26, B7H9G7, B7HTQ3, B7ILV5, B7JT58, B9DTS7, B9J290, C1EW67, C3LB28, C3LP78, C3PCE8, D2Y494, O70454, P12454, P12514, P12805, P19029, P19508, P19745, P34313, P35682, P41223, P42939, P61464, P83517, Q02XJ3, Q2NKU3, Q4L7D2, Q567Z7, Q56K13, Q632P7, Q65FU4, Q65WT0, Q6HC88, Q6PGH1, Q71YZ7
Diamond homologs: P58728, Q55BF5, Q56K13, Q923D4, Q9BWJ5, Q9LW64, Q9P7R6, Q9VHI4, P0C074
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SF3B5 | “form complex” | SF3b | binding |
| SF3B5 | “form complex” | “U2 snRNP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 92 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 6 | 52.9× | 4e-08 |
| mRNA Splicing - Minor Pathway | 9 | 28.0× | 1e-09 |
| SARS-CoV-2 modulates host translation machinery | 9 | 28.0× | 1e-09 |
| mRNA Splicing | 18 | 27.4× | 1e-19 |
| CHD1 and CHD2 subfamily | 18 | 27.2× | 1e-19 |
| mRNA Polyadenylation | 21 | 25.6× | 3e-22 |
| Processing of Capped Intron-Containing Pre-mRNA | 19 | 21.7× | 6e-19 |
| snRNP Assembly | 7 | 20.6× | 2e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 15 | 110.1× | 8e-26 |
| spliceosomal complex assembly | 8 | 56.6× | 1e-10 |
| spliceosomal snRNP assembly | 7 | 47.9× | 1e-08 |
| RNA splicing, via transesterification reactions | 5 | 36.7× | 1e-05 |
| mRNA splicing, via spliceosome | 23 | 24.8× | 1e-23 |
| RNA splicing | 19 | 19.7× | 2e-17 |
| regulation of DNA repair | 5 | 16.2× | 7e-04 |
| regulation of RNA splicing | 5 | 12.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1071172 | NC_000006.11:g.(?143772160)(144508648_?)del | Pathogenic |
SpliceAI
184 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:144095410:C:CA | donor_gain | 0.8800 |
| 6:144095449:TGG:T | donor_gain | 0.8600 |
| 6:144095311:G:A | donor_gain | 0.8200 |
| 6:144095244:T:A | donor_gain | 0.7900 |
| 6:144095289:T:A | donor_gain | 0.7600 |
| 6:144095167:A:AC | donor_gain | 0.7500 |
| 6:144095168:C:CC | donor_gain | 0.7500 |
| 6:144095409:TCC:T | donor_gain | 0.7500 |
| 6:144095410:CCC:C | donor_gain | 0.7500 |
| 6:144095324:ATTCT:A | donor_gain | 0.7300 |
| 6:144095446:A:AC | donor_gain | 0.6800 |
| 6:144095447:C:CC | donor_gain | 0.6800 |
| 6:144095411:C:A | donor_gain | 0.6700 |
| 6:144095239:A:AC | donor_gain | 0.6400 |
| 6:144095105:TCTGT:T | donor_gain | 0.6300 |
| 6:144095284:T:C | donor_gain | 0.6300 |
| 6:144095413:A:AC | donor_gain | 0.6300 |
| 6:144095414:C:CC | donor_gain | 0.6300 |
| 6:144095240:G:C | donor_gain | 0.6200 |
| 6:144095091:C:A | donor_gain | 0.6100 |
| 6:144095090:C:CA | donor_gain | 0.5900 |
| 6:144095149:T:TA | donor_gain | 0.5900 |
| 6:144095245:C:CA | donor_gain | 0.5900 |
| 6:144095397:T:C | donor_gain | 0.5900 |
| 6:144095448:T:C | donor_gain | 0.5900 |
| 6:144095415:T:C | donor_gain | 0.5700 |
| 6:144095330:C:CT | acceptor_gain | 0.5600 |
| 6:144095377:A:AC | donor_gain | 0.5600 |
| 6:144095195:CG:C | donor_gain | 0.5500 |
| 6:144095328:TCC:T | acceptor_gain | 0.5400 |
AlphaMissense
575 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:144095388:C:G | R37P | 0.999 |
| 6:144095407:A:G | W31R | 0.999 |
| 6:144095407:A:T | W31R | 0.999 |
| 6:144095433:C:T | G22D | 0.999 |
| 6:144095439:C:T | G20D | 0.999 |
| 6:144095389:G:T | R37S | 0.998 |
| 6:144095439:C:A | G20V | 0.998 |
| 6:144095440:C:G | G20R | 0.998 |
| 6:144095457:A:G | L14P | 0.998 |
| 6:144095310:C:G | R63P | 0.997 |
| 6:144095382:G:C | S39W | 0.997 |
| 6:144095383:A:G | S39P | 0.997 |
| 6:144095434:C:G | G22R | 0.997 |
| 6:144095447:C:A | K17N | 0.997 |
| 6:144095447:C:G | K17N | 0.997 |
| 6:144095452:A:G | S16P | 0.997 |
| 6:144095385:T:A | D38V | 0.996 |
| 6:144095337:G:T | A54D | 0.995 |
| 6:144095365:C:G | G45R | 0.995 |
| 6:144095384:G:C | D38E | 0.995 |
| 6:144095384:G:T | D38E | 0.995 |
| 6:144095385:T:G | D38A | 0.995 |
| 6:144095386:C:G | D38H | 0.995 |
| 6:144095440:C:A | G20C | 0.995 |
| 6:144095449:T:C | K17E | 0.995 |
| 6:144095274:G:T | P75H | 0.994 |
| 6:144095338:C:G | A54P | 0.994 |
| 6:144095427:G:T | A24D | 0.994 |
| 6:144095463:T:A | E12V | 0.994 |
| 6:144095270:A:C | C76W | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1001572263 (6:144096617 GGA>G), RS1001670384 (6:144096929 C>G), RS1003195279 (6:144095986 C>G,T), RS1003246359 (6:144095378 G>A,C), RS1003249643 (6:144096303 G>A), RS1003852933 (6:144094487 T>C), RS1005568120 (6:144097342 A>G), RS1005664898 (6:144097500 A>G), RS1006279596 (6:144097335 G>C,T), RS1007204518 (6:144097132 C>T), RS1008879692 (6:144094801 T>A), RS1010972556 (6:144096356 C>A,G), RS1011762012 (6:144096016 T>C), RS1011954743 (6:144095768 G>T), RS1012268478 (6:144096588 A>G)
Disease associations
OMIM: gene MIM:617847 | disease phenotypes: MIM:603552
GenCC curated gene-disease
Mondo (1): familial hemophagocytic lymphohistiocytosis 4 (MONDO:0011336)
Orphanet (1): Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537252 | Hemophagocytic lymphohistiocytosis, familial, 4 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067256 (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 |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, increases expression | 4 |
| Valproic Acid | affects expression, increases expression | 3 |
| Cyclosporine | increases expression, increases methylation | 3 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| terbufos | decreases methylation | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| o,p’-DDT | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| Resveratrol | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | increases expression | 1 |
| Fonofos | decreases methylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Parathion | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Zearalenone | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652430 | Binding | Binding affinity to human SF3B5 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 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): familial hemophagocytic lymphohistiocytosis 4