SLF1
gene geneOn this page
Also known as DKFZp761C121DKFZp564C0469BRCTxhNSE5
Summary
SLF1 (SMC5/6 complex localization factor 1, HGNC:25408) is a protein-coding gene on chromosome 5q15, encoding SMC5-SMC6 complex localization factor protein 1 (Q9BQI6). Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance.
Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in nucleoplasm and site of double-strand break.
Source: NCBI Gene 84250 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 171 total
- MANE Select transcript:
NM_032290
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25408 |
| Approved symbol | SLF1 |
| Name | SMC5/6 complex localization factor 1 |
| Location | 5q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp761C121, DKFZp564C0469, BRCTx, hNSE5 |
| Ensembl gene | ENSG00000133302 |
| Ensembl biotype | protein_coding |
| OMIM | 618467 |
| Entrez | 84250 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 9 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000265140, ENST00000450932, ENST00000466957, ENST00000475916, ENST00000493934, ENST00000504099, ENST00000508130, ENST00000508383, ENST00000908676, ENST00000939302, ENST00000939303, ENST00000939304, ENST00000939305, ENST00000966409, ENST00000966410
RefSeq mRNA: 1 — MANE Select: NM_032290
NM_032290
CCDS: CCDS4071
Canonical transcript exons
ENST00000265140 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001837084 | 94694831 | 94697621 |
| ENSE00001844062 | 94618669 | 94618765 |
| ENSE00002203241 | 94654630 | 94654752 |
| ENSE00002205179 | 94670843 | 94671008 |
| ENSE00002227255 | 94630503 | 94630743 |
| ENSE00002233772 | 94670151 | 94670279 |
| ENSE00002251960 | 94665861 | 94666024 |
| ENSE00002273771 | 94678808 | 94678955 |
| ENSE00002286007 | 94643273 | 94643435 |
| ENSE00003459924 | 94628811 | 94628924 |
| ENSE00003461409 | 94662298 | 94662351 |
| ENSE00003489970 | 94651702 | 94651845 |
| ENSE00003494205 | 94689473 | 94689606 |
| ENSE00003541636 | 94686573 | 94686718 |
| ENSE00003560946 | 94688506 | 94688669 |
| ENSE00003572971 | 94653272 | 94653421 |
| ENSE00003576048 | 94663750 | 94663908 |
| ENSE00003585622 | 94649454 | 94649597 |
| ENSE00003613552 | 94629092 | 94629167 |
| ENSE00003646180 | 94692074 | 94692256 |
| ENSE00003676097 | 94691564 | 94691656 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 95.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8117 / max 488.0229, expressed in 1599 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57605 | 11.0319 | 1588 |
| 57608 | 1.1382 | 145 |
| 57606 | 0.5166 | 275 |
| 57610 | 0.1051 | 34 |
| 57609 | 0.0199 | 7 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 95.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.90 | gold quality |
| oocyte | CL:0000023 | 92.18 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.14 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.41 | gold quality |
| ventricular zone | UBERON:0003053 | 87.23 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 86.92 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.39 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.32 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.20 | gold quality |
| cerebellum | UBERON:0002037 | 85.10 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.82 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.81 | gold quality |
| embryo | UBERON:0000922 | 84.80 | gold quality |
| cortical plate | UBERON:0005343 | 84.11 | gold quality |
| testis | UBERON:0000473 | 82.57 | gold quality |
| cerebellar vermis | UBERON:0004720 | 82.45 | gold quality |
| right testis | UBERON:0004534 | 81.82 | gold quality |
| bone marrow | UBERON:0002371 | 81.81 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.53 | gold quality |
| bronchial epithelial cell | CL:0002328 | 81.46 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.32 | gold quality |
| left testis | UBERON:0004533 | 81.13 | gold quality |
| bone marrow cell | CL:0002092 | 80.98 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.92 | gold quality |
| sural nerve | UBERON:0015488 | 80.86 | gold quality |
| granulocyte | CL:0000094 | 80.29 | gold quality |
| bronchus | UBERON:0002185 | 80.23 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 79.91 | gold quality |
| frontal cortex | UBERON:0001870 | 79.76 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8894 | yes | 461.87 |
| E-ANND-3 | yes | 4.88 |
| E-GEOD-109979 | no | 203.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting SLF1, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-4263 | 99.18 | 69.25 | 2236 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-455-3P | 98.94 | 67.68 | 878 |
| HSA-MIR-4724-5P | 98.87 | 67.75 | 1324 |
| HSA-MIR-3149 | 98.77 | 67.13 | 1639 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-4659B-5P | 98.03 | 66.84 | 979 |
| HSA-MIR-4659A-5P | 98.03 | 66.42 | 819 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-4700-3P | 97.74 | 68.64 | 1014 |
| HSA-MIR-4308 | 97.56 | 67.13 | 1385 |
| HSA-MIR-937-5P | 97.43 | 68.39 | 667 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-3674 | 97.01 | 68.86 | 1171 |
Literature-anchored findings (GeneRIF, showing 1)
- Results describe the cloning, characterization, and targeted mutagenesis of Brctx, a novel gene with a BRCT motif [Brctx]. (PMID:15632077)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slf1 | ENSDARG00000102118 |
| mus_musculus | Slf1 | ENSMUSG00000021597 |
| rattus_norvegicus | Slf1 | ENSRNOG00000040279 |
Paralogs (1): TOPBP1 (ENSG00000163781)
Protein
Protein identifiers
SMC5-SMC6 complex localization factor protein 1 — Q9BQI6 (reviewed: Q9BQI6)
Alternative names: Ankyrin repeat domain-containing protein 32, BRCT domain-containing protein 1, Smc5/6 localization factor 1
All UniProt accessions (3): D6RED9, Q9BQI6, H0YBU1
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions.
Subunit / interactions. Interacts (via N-terminus) with SLF2; this interaction links RAD18 to the SMC5-SMC6 complex. Interacts (via BRCT domains) with RAD18; this interaction occurs in a SLF2-independent manner. Interacts with SMC6. Interacts (via BRCT domains) with RAD18 (via C-terminus and phosphorylated form); this interaction is required for efficient repair of UV-induced DNA damage.
Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Domain organisation. BRCT domains are necessary for its targeting to ionizing radiation-induced nuclear foci.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BQI6-1 | 1 | yes |
| Q9BQI6-2 | 2 |
RefSeq proteins (1): NP_115666* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001357 | BRCT_dom | Domain |
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036420 | BRCT_dom_sf | Homologous_superfamily |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR042479 | Slf1 | Family |
| IPR049935 | BRCT_SLF1 | Domain |
| IPR057595 | TopB1_SLF1_BRCT | Domain |
Pfam: PF12796, PF16770, PF23294
UniProt features (42 total): helix 18, strand 7, sequence conflict 5, repeat 3, domain 2, splice variant 2, chain 1, sequence variant 1, turn 1, region of interest 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8PEF | X-RAY DIFFRACTION | 1.28 |
| 8IR4 | X-RAY DIFFRACTION | 1.62 |
| 8IR2 | X-RAY DIFFRACTION | 1.75 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQI6-F1 | 69.35 | 0.25 |
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): 931
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 183 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_CHROMOSOME_ORGANIZATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_DNA_REPAIR, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_SISTER_CHROMATID_COHESION, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_REGULATION_OF_CELL_CYCLE
GO Biological Process (10): double-strand break repair via homologous recombination (GO:0000724), DNA damage response (GO:0006974), protein sumoylation (GO:0016925), positive regulation of protein-containing complex assembly (GO:0031334), regulation of telomere maintenance (GO:0032204), positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184), chromatin looping (GO:0140588), protein localization to site of double-strand break (GO:1990166), positive regulation of double-strand break repair (GO:2000781), DNA repair (GO:0006281)
GO Molecular Function (3): ubiquitin protein ligase binding (GO:0031625), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)
GO Cellular Component (11): chromosome, telomeric region (GO:0000781), nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), Smc5-Smc6 complex (GO:0030915), site of double-strand break (GO:0035861), nuclear inclusion body (GO:0042405), chromosome (GO:0005694), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| double-strand break repair | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| intracellular membraneless organelle | 2 |
| recombinational repair | 1 |
| cellular response to stress | 1 |
| peptidyl-lysine modification | 1 |
| protein modification by small protein conjugation | 1 |
| regulation of protein-containing complex assembly | 1 |
| positive regulation of cellular component biogenesis | 1 |
| positive regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| telomere maintenance | 1 |
| regulation of chromosome organization | 1 |
| regulation of DNA metabolic process | 1 |
| maintenance of mitotic sister chromatid cohesion | 1 |
| positive regulation of maintenance of sister chromatid cohesion | 1 |
| regulation of maintenance of mitotic sister chromatid cohesion | 1 |
| chromatin organization | 1 |
| protein localization to chromosome | 1 |
| positive regulation of DNA repair | 1 |
| regulation of double-strand break repair | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| ubiquitin-like protein ligase binding | 1 |
| chromosomal region | 1 |
| chromatin | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| condensed chromosome | 1 |
| SUMO ligase complex | 1 |
| site of DNA damage | 1 |
| nucleus | 1 |
| inclusion body | 1 |
Protein interactions and networks
STRING
2925 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLF1 | SLF2 | Q8IX21 | 987 |
| SLF1 | RAD18 | Q9NS91 | 784 |
| SLF1 | SMC5 | Q8IY18 | 772 |
| SLF1 | NSMCE1 | Q8WV22 | 593 |
| SLF1 | ARB2A | Q8WUF8 | 572 |
| SLF1 | RNF168 | Q8IYW5 | 571 |
| SLF1 | TP53BP1 | Q12888 | 530 |
| SLF1 | PAXIP1 | Q6ZW49 | 525 |
| SLF1 | MCTP1 | Q6DN14 | 524 |
| SLF1 | RNF169 | Q8NCN4 | 515 |
| SLF1 | NSMCE2 | Q96MF7 | 507 |
| SLF1 | SMC6 | Q96SB8 | 498 |
| SLF1 | MDC1 | Q14676 | 493 |
| SLF1 | NSMCE3 | Q96MG7 | 465 |
| SLF1 | HLTF | Q14527 | 460 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLF2 | SLF1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SLF1 | SLF2 | psi-mi:“MI:0914”(association) | 0.780 |
| NFKB1 | NFKBIE | psi-mi:“MI:2364”(proximity) | 0.600 |
| MAGEA10 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| SLF1 | PDIA6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UBTF | SLF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PARD6B | PARD3 | psi-mi:“MI:0914”(association) | 0.350 |
| SMC6 | IFT88 | psi-mi:“MI:0914”(association) | 0.350 |
| SLF2 | GCFC2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAD18 | SRGAP3 | psi-mi:“MI:0914”(association) | 0.350 |
| NFKB1 | NFKB1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAD18 | H2AC4 | psi-mi:“MI:0914”(association) | 0.350 |
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| SLF1 | CD8A | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | psi-mi:“MI:0914”(association) | 0.350 | |
| MAGEA10 | KANSL1L | psi-mi:“MI:0914”(association) | 0.350 |
| BRCA1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (36): ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Two-hybrid), ANKRD32 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Proximity Label-MS), ANKRD32 (Affinity Capture-MS), ANKRD32 (Proximity Label-MS), ANKRD32 (Proximity Label-MS), ANKRD32 (Negative Genetic)
ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2
Diamond homologs: A2AQH4, A2AS55, A6NGH8, A6QR20, O14974, Q2T9W8, Q499M5, Q5H9F3, Q641X1, Q6P6B7, Q6W2J9, Q86WC6, Q8CGN4, Q9BQI6, Q9D119, Q9UU77, Q9XZC0, A4II29, A5WVX9, B4E2M5, D3Z7P3, E9PTT0, G5EGA3, O83515, O94925, P13264, Q01317, Q15653, Q21920, Q3SX45, Q3U0L2, Q4FE45, Q4JHE0, Q502K3, Q54HW1, Q5U5A6, Q6NSI1, Q6NY19, Q7T3Y0, Q7Z6K4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
171 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 142 |
| Likely benign | 13 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4478 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:94628795:T:G | acceptor_gain | 1.0000 |
| 5:94628799:T:TA | acceptor_gain | 1.0000 |
| 5:94628802:A:AG | acceptor_gain | 1.0000 |
| 5:94628802:ATTT:A | acceptor_gain | 1.0000 |
| 5:94628803:T:G | acceptor_gain | 1.0000 |
| 5:94628805:T:TA | acceptor_gain | 1.0000 |
| 5:94628806:GTTAG:G | acceptor_loss | 1.0000 |
| 5:94628807:TTAGA:T | acceptor_loss | 1.0000 |
| 5:94628808:TAGAT:T | acceptor_loss | 1.0000 |
| 5:94628809:A:AG | acceptor_gain | 1.0000 |
| 5:94628809:A:T | acceptor_loss | 1.0000 |
| 5:94628810:G:GA | acceptor_gain | 1.0000 |
| 5:94628871:G:GT | donor_gain | 1.0000 |
| 5:94628920:GTGAG:G | donor_gain | 1.0000 |
| 5:94628921:TGAGG:T | donor_loss | 1.0000 |
| 5:94628922:GAGGT:G | donor_loss | 1.0000 |
| 5:94628923:AGGTA:A | donor_loss | 1.0000 |
| 5:94628924:GGTA:G | donor_loss | 1.0000 |
| 5:94628925:G:GC | donor_loss | 1.0000 |
| 5:94628926:T:G | donor_loss | 1.0000 |
| 5:94629090:A:AG | acceptor_gain | 1.0000 |
| 5:94629091:G:GG | acceptor_gain | 1.0000 |
| 5:94630499:CTAGG:C | acceptor_loss | 1.0000 |
| 5:94630500:TA:T | acceptor_loss | 1.0000 |
| 5:94630501:A:C | acceptor_loss | 1.0000 |
| 5:94630502:G:GC | acceptor_loss | 1.0000 |
| 5:94630502:GGAAA:G | acceptor_gain | 1.0000 |
| 5:94630694:A:T | donor_gain | 1.0000 |
| 5:94630719:A:G | donor_gain | 1.0000 |
| 5:94630725:G:GT | donor_gain | 1.0000 |
AlphaMissense
7029 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:94630508:T:A | W66R | 0.999 |
| 5:94630508:T:C | W66R | 0.999 |
| 5:94692085:T:A | W842R | 0.999 |
| 5:94692085:T:C | W842R | 0.999 |
| 5:94692092:C:A | P844H | 0.999 |
| 5:94629114:T:C | L46P | 0.998 |
| 5:94630556:T:A | W82R | 0.998 |
| 5:94630556:T:C | W82R | 0.998 |
| 5:94691587:T:C | C815R | 0.998 |
| 5:94691589:C:G | C815W | 0.998 |
| 5:94691656:G:C | D838H | 0.998 |
| 5:94692074:A:C | D838A | 0.998 |
| 5:94692074:A:T | D838V | 0.998 |
| 5:94692087:G:C | W842C | 0.998 |
| 5:94692087:G:T | W842C | 0.998 |
| 5:94692092:C:G | P844R | 0.998 |
| 5:94692103:G:C | A848P | 0.998 |
| 5:94692107:G:A | C849Y | 0.998 |
| 5:94692108:T:G | C849W | 0.998 |
| 5:94692116:G:T | G852V | 0.998 |
| 5:94692131:T:A | V857D | 0.998 |
| 5:94692205:G:C | A882P | 0.998 |
| 5:94692209:T:C | L883P | 0.998 |
| 5:94692242:T:C | L894P | 0.998 |
| 5:94630580:T:A | W90R | 0.997 |
| 5:94630580:T:C | W90R | 0.997 |
| 5:94630643:T:A | W111R | 0.997 |
| 5:94630643:T:C | W111R | 0.997 |
| 5:94630691:T:A | W127R | 0.997 |
| 5:94630691:T:C | W127R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000017444 (5:94684538 A>C,G), RS1000024937 (5:94651247 T>C), RS1000040914 (5:94643149 C>A), RS1000088048 (5:94692683 A>G,T), RS1000129047 (5:94654791 G>C), RS1000153765 (5:94627979 C>T), RS1000180376 (5:94671677 T>C), RS1000199076 (5:94678357 G>T), RS1000240404 (5:94690705 A>C,G), RS1000310182 (5:94668880 G>C), RS1000353418 (5:94624829 A>G), RS1000359851 (5:94681637 ACCCTCCC>A), RS1000440133 (5:94675099 T>G), RS1000465751 (5:94630579 A>G), RS1000475474 (5:94633876 G>C,T)
Disease associations
OMIM: gene MIM:618467 | 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 |
|---|---|---|
| GCST010701_40 | Cortical surface area (MOSTest) | 9.000000e-23 |
| GCST010702_25 | Subcortical volume (MOSTest) | 4.000000e-39 |
| GCST010703_194 | Brain morphology (MOSTest) | 9.000000e-11 |
| GCST90093325_9 | Language functional connectivity | 7.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0007797 | language measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Cyclosporine | affects expression, decreases expression | 3 |
| Resveratrol | affects cotreatment, increases expression | 2 |
| Cisplatin | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| TAK-243 | increases sumoylation | 1 |
| aminomethylphosphonic acid (AMPA) | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | increases expression, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 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.