DSN1
gene geneOn this page
Also known as dJ469A13.2MIS13KNL3hKNL-3
Summary
DSN1 (DSN1 component of MIS12 kinetochore complex, HGNC:16165) is a protein-coding gene on chromosome 20q11.23, encoding Kinetochore-associated protein DSN1 homolog (Q9H410). Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. It is a selective cancer dependency (DepMap: 89.5% of cell lines).
This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 79980 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 57 total
- Cancer dependency (DepMap): dependent in 89.5% of screened cell lines
- MANE Select transcript:
NM_001145315
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16165 |
| Approved symbol | DSN1 |
| Name | DSN1 component of MIS12 kinetochore complex |
| Location | 20q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ469A13.2, MIS13, KNL3, hKNL-3 |
| Ensembl gene | ENSG00000149636 |
| Ensembl biotype | protein_coding |
| OMIM | 609175 |
| Entrez | 79980 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 27 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000373734, ENST00000373740, ENST00000373750, ENST00000426836, ENST00000438549, ENST00000447406, ENST00000448110, ENST00000473615, ENST00000480153, ENST00000492703, ENST00000863304, ENST00000863305, ENST00000863306, ENST00000863307, ENST00000863308, ENST00000863309, ENST00000925982, ENST00000925983, ENST00000925984, ENST00000925985, ENST00000925986, ENST00000925987, ENST00000925988, ENST00000925989, ENST00000925990, ENST00000925991, ENST00000925992, ENST00000925993, ENST00000963378, ENST00000963379
RefSeq mRNA: 5 — MANE Select: NM_001145315
NM_001145315, NM_001145316, NM_001145317, NM_001145318, NM_024918
CCDS: CCDS13286, CCDS46596, CCDS46597
Canonical transcript exons
ENST00000373750 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001889455 | 36773662 | 36773763 |
| ENSE00003460215 | 36767969 | 36768042 |
| ENSE00003500393 | 36766769 | 36766841 |
| ENSE00003508637 | 36762461 | 36762548 |
| ENSE00003525551 | 36755682 | 36755829 |
| ENSE00003526723 | 36754763 | 36754850 |
| ENSE00003558030 | 36771425 | 36771473 |
| ENSE00003575420 | 36770873 | 36771193 |
| ENSE00003612406 | 36758558 | 36758617 |
| ENSE00003686269 | 36751795 | 36752897 |
| ENSE00003784063 | 36758087 | 36758161 |
Expression profiles
Bgee: expression breadth ubiquitous, 209 present calls, max score 93.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.0521 / max 110.7990, expressed in 1752 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187141 | 12.0521 | 1752 |
Top tissues by expression
267 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.90 | gold quality |
| ventricular zone | UBERON:0003053 | 91.44 | gold quality |
| right testis | UBERON:0004534 | 88.77 | gold quality |
| secondary oocyte | CL:0000655 | 88.34 | gold quality |
| left testis | UBERON:0004533 | 88.28 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.00 | gold quality |
| testis | UBERON:0000473 | 86.53 | gold quality |
| oocyte | CL:0000023 | 86.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.39 | gold quality |
| rectum | UBERON:0001052 | 84.27 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.94 | gold quality |
| adrenal tissue | UBERON:0018303 | 82.87 | gold quality |
| right adrenal gland | UBERON:0001233 | 82.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.42 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 82.17 | gold quality |
| granulocyte | CL:0000094 | 81.35 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.31 | gold quality |
| adrenal cortex | UBERON:0001235 | 80.72 | gold quality |
| stromal cell of endometrium | CL:0002255 | 80.65 | gold quality |
| adrenal gland | UBERON:0002369 | 80.36 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.24 | gold quality |
| lymph node | UBERON:0000029 | 79.76 | gold quality |
| spleen | UBERON:0002106 | 79.74 | gold quality |
| embryo | UBERON:0000922 | 79.42 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.89 | gold quality |
| esophagus mucosa | UBERON:0002469 | 78.81 | gold quality |
| right lung | UBERON:0002167 | 78.50 | gold quality |
| skin of leg | UBERON:0001511 | 78.46 | gold quality |
| bone marrow cell | CL:0002092 | 78.42 | gold quality |
| skin of abdomen | UBERON:0001416 | 78.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
50 targeting DSN1, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-1284 | 99.67 | 73.56 | 1353 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 89.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- HsMis13 phosphorylation by Aurora B is required for organizing a stable bi-oriented microtubule kinetochore attachment that is essential for faithful chromosome segregation in mitosis. (PMID:18640974)
- this report provides clear evidence that overexpression of the AURKA, SKA3, and DSN1 genes strongly correlates with the progression of colorectal adenomas to colorectal cancer (PMID:27329586)
- DSN1 is overexpressed in hepatocellular carcinoma tissues and strongly associated with poor prognosis. (PMID:30136646)
- Identification of CDCA8, DSN1 and BIRC5 in Regulating Cell Cycle and Apoptosis in Osteosarcoma Using Bioinformatics and Cell Biology. (PMID:33153400)
- DSN1 is a prognostic biomarker and correlated with clinical characterize in breast cancer. (PMID:34238686)
- SRSF9 promotes colorectal cancer progression via stabilizing DSN1 mRNA in an m6A-related manner. (PMID:35509101)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dsn1 | ENSDARG00000089922 |
| mus_musculus | Dsn1 | ENSMUSG00000027635 |
| rattus_norvegicus | Dsn1 | ENSRNOG00000006236 |
Protein
Protein identifiers
Kinetochore-associated protein DSN1 homolog — Q9H410 (reviewed: Q9H410)
All UniProt accessions (4): Q9H410, Q5JW53, Q5JW54, Q5JW57
UniProt curated annotations — full annotation on UniProt →
Function. Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.
Subunit / interactions. Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with KNL1, CBX3 and CBX5. Interacts with KNSTRN.
Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H410-1 | 1 | yes |
| Q9H410-2 | 2 | |
| Q9H410-4 | 4 | |
| Q9H410-3 | 3 |
RefSeq proteins (5): NP_001138787, NP_001138788, NP_001138789, NP_001138790, NP_079194 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013218 | Dsn1/Mis13 | Family |
Pfam: PF08202
UniProt features (31 total): helix 11, modified residue 8, splice variant 3, region of interest 2, compositionally biased region 2, chain 1, cross-link 1, sequence conflict 1, strand 1, turn 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5LSI | X-RAY DIFFRACTION | 2 |
| 8PPR | ELECTRON MICROSCOPY | 3 |
| 5LSJ | X-RAY DIFFRACTION | 3.25 |
| 5LSK | X-RAY DIFFRACTION | 3.5 |
| 8Q5H | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H410-F1 | 68.28 | 0.32 |
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 (9): 109, 125, 331, 253, 28, 30, 58, 77, 81
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| R-HSA-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation |
MSigDB gene sets: 151 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, REACTOME_INNATE_IMMUNE_SYSTEM, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOCC_SECRETORY_GRANULE, GOBP_CHROMOSOME_LOCALIZATION, GOBP_MUSCLE_CELL_PROLIFERATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_STRIATED_MUSCLE_CELL_PROLIFERATION, FISCHER_DREAM_TARGETS, chr20q11, ACEVEDO_LIVER_CANCER_UP, GOBP_ORGANELLE_LOCALIZATION, KOBAYASHI_EGFR_SIGNALING_24HR_DN, REACTOME_CELL_CYCLE_CHECKPOINTS
GO Biological Process (4): attachment of spindle microtubules to kinetochore (GO:0008608), skeletal muscle satellite cell proliferation (GO:0014841), cell division (GO:0051301), chromosome segregation (GO:0007059)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (14): MIS12/MIND type complex (GO:0000444), kinetochore (GO:0000776), spindle pole (GO:0000922), outer kinetochore (GO:0000940), fibrillar center (GO:0001650), extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nuclear body (GO:0016604), azurophil granule lumen (GO:0035578), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prometaphase | 2 |
| Amplification of signal from the kinetochores | 1 |
| Mitotic Anaphase | 1 |
| RHO GTPase Effectors | 1 |
| Innate Immune System | 1 |
| M Phase | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| intracellular membraneless organelle | 4 |
| cell cycle process | 2 |
| nuclear lumen | 2 |
| microtubule binding | 1 |
| metaphase chromosome alignment | 1 |
| skeletal muscle cell proliferation | 1 |
| cellular process | 1 |
| binding | 1 |
| outer kinetochore | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| spindle | 1 |
| kinetochore | 1 |
| protein-containing complex | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| vacuolar lumen | 1 |
| secretory granule lumen | 1 |
| azurophil granule | 1 |
| chromosomal region | 1 |
Protein interactions and networks
STRING
1801 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DSN1 | PMF1 | Q6P1K2 | 998 |
| DSN1 | A0A087WT04 | A0A087WT04 | 998 |
| DSN1 | NSL1 | Q96IY1 | 987 |
| DSN1 | MIS12 | Q9H081 | 984 |
| DSN1 | ZWINT | O95229 | 949 |
| DSN1 | KNL1 | Q8NG31 | 948 |
| DSN1 | CENPA | P49450 | 899 |
| DSN1 | SPC24 | Q8NBT2 | 899 |
| DSN1 | CENPC | Q03188 | 890 |
| DSN1 | CBX5 | P45973 | 888 |
| DSN1 | CENPT | Q96BT3 | 816 |
| DSN1 | INCENP | Q9NQS7 | 807 |
| DSN1 | NUF2 | Q9BZD4 | 806 |
| DSN1 | CENPI | Q92674 | 798 |
| DSN1 | AURKB | Q96GD4 | 797 |
IntAct
132 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZWINT | NDC80 | psi-mi:“MI:0914”(association) | 0.940 |
| SPC25 | NDC80 | psi-mi:“MI:0914”(association) | 0.940 |
| DSN1 | MIS12 | psi-mi:“MI:2364”(proximity) | 0.930 |
| MIS12 | DSN1 | psi-mi:“MI:2364”(proximity) | 0.930 |
| MIS12 | DSN1 | psi-mi:“MI:0915”(physical association) | 0.930 |
| DSN1 | MIS12 | psi-mi:“MI:0915”(physical association) | 0.930 |
| SPC24 | NDC80 | psi-mi:“MI:0914”(association) | 0.920 |
| DSN1 | NSL1 | psi-mi:“MI:2364”(proximity) | 0.920 |
| NSL1 | DSN1 | psi-mi:“MI:2364”(proximity) | 0.920 |
| NSL1 | DSN1 | psi-mi:“MI:0915”(physical association) | 0.920 |
| DSN1 | NSL1 | psi-mi:“MI:0915”(physical association) | 0.920 |
BioGRID (233): DSN1 (Affinity Capture-RNA), DSN1 (Affinity Capture-RNA), DSN1 (Affinity Capture-MS), DSN1 (Affinity Capture-MS), DSN1 (Affinity Capture-MS), DSN1 (Affinity Capture-MS), DSN1 (Affinity Capture-MS), RNF20 (Affinity Capture-MS), RNF40 (Affinity Capture-MS), CASC5 (Affinity Capture-MS), SPC25 (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), BRCA2 (Affinity Capture-MS), SPC24 (Affinity Capture-MS), NDC80 (Affinity Capture-MS)
ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A1L2Y1, A2ALV5, A9JRX0, B2GUZ2, D3ZSP7, F1QB81, O35892, O70608, O75113, P23497, P70347, Q0P5X5, Q13129, Q16533, Q2T9I9, Q3U1D0, Q5CZC0, Q5H9M0, Q5REF4, Q5RHB5, Q5SW75, Q5T4T6, Q5T5J6, Q5XG69, Q5ZLE9, Q60664, Q63HN8, Q7M6U3, Q7Z4H7, Q80VH0, Q8BVK9, Q8C263, Q8CCC3, Q8NA03, Q90WN7, Q92844, Q96QP1
Diamond homologs: Q9CYC5, Q9H410
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AURKB | down-regulates | DSN1 | phosphorylation |
| UBR2 | “down-regulates quantity” | DSN1 | ubiquitination |
| DSN1 | “form complex” | “MIS12 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 84 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 |
|---|---|---|---|
| Amplification of signal from the kinetochores | 9 | 30.6× | 7e-10 |
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 14 | 28.1× | 2e-14 |
| Mitotic Spindle Checkpoint | 9 | 24.6× | 4e-09 |
| EML4 and NUDC in mitotic spindle formation | 14 | 22.4× | 1e-13 |
| Resolution of Sister Chromatid Cohesion | 14 | 20.9× | 3e-13 |
| RHO GTPases Activate Formins | 15 | 20.1× | 9e-14 |
| Cell Cycle Checkpoints | 11 | 16.8× | 2e-09 |
| Mitotic Prometaphase | 14 | 16.7× | 6e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| attachment of spindle microtubules to kinetochore | 8 | 101.2× | 2e-12 |
| mitotic spindle assembly checkpoint signaling | 7 | 53.1× | 9e-09 |
| mitotic sister chromatid segregation | 6 | 39.0× | 1e-06 |
| chromosome segregation | 8 | 18.8× | 1e-06 |
| cell division | 15 | 9.4× | 9e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1526 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:36752893:CTTTC:C | acceptor_gain | 1.0000 |
| 20:36752894:TTTC:T | acceptor_gain | 1.0000 |
| 20:36752895:TTC:T | acceptor_gain | 1.0000 |
| 20:36752896:TC:T | acceptor_gain | 1.0000 |
| 20:36752896:TCCT:T | acceptor_loss | 1.0000 |
| 20:36752897:CC:C | acceptor_gain | 1.0000 |
| 20:36752897:CCTGC:C | acceptor_loss | 1.0000 |
| 20:36752898:C:CA | acceptor_loss | 1.0000 |
| 20:36752898:C:CC | acceptor_gain | 1.0000 |
| 20:36754757:GCTTA:G | donor_loss | 1.0000 |
| 20:36754758:CTTAC:C | donor_loss | 1.0000 |
| 20:36754759:TTA:T | donor_loss | 1.0000 |
| 20:36754760:T:TG | donor_loss | 1.0000 |
| 20:36754761:A:AC | donor_gain | 1.0000 |
| 20:36754761:ACCGA:A | donor_loss | 1.0000 |
| 20:36754762:C:CC | donor_gain | 1.0000 |
| 20:36754762:C:T | donor_loss | 1.0000 |
| 20:36754762:CCGAG:C | donor_gain | 1.0000 |
| 20:36754766:G:C | donor_gain | 1.0000 |
| 20:36754792:TGGG:T | donor_gain | 1.0000 |
| 20:36754801:T:A | donor_gain | 1.0000 |
| 20:36754846:TCCAT:T | acceptor_gain | 1.0000 |
| 20:36754847:CCAT:C | acceptor_gain | 1.0000 |
| 20:36754847:CCATC:C | acceptor_gain | 1.0000 |
| 20:36754848:CAT:C | acceptor_gain | 1.0000 |
| 20:36754848:CATC:C | acceptor_gain | 1.0000 |
| 20:36754848:CATCT:C | acceptor_loss | 1.0000 |
| 20:36754849:AT:A | acceptor_gain | 1.0000 |
| 20:36754849:ATCTG:A | acceptor_loss | 1.0000 |
| 20:36754850:TC:T | acceptor_loss | 1.0000 |
AlphaMissense
2338 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:36767975:A:C | S141R | 0.993 |
| 20:36767975:A:T | S141R | 0.993 |
| 20:36767977:T:G | S141R | 0.993 |
| 20:36758139:A:G | W225R | 0.989 |
| 20:36758139:A:T | W225R | 0.989 |
| 20:36767988:A:G | L137P | 0.981 |
| 20:36758137:C:A | W225C | 0.980 |
| 20:36758137:C:G | W225C | 0.980 |
| 20:36768000:C:G | R133P | 0.977 |
| 20:36754840:A:G | L295P | 0.975 |
| 20:36754819:A:G | L302P | 0.973 |
| 20:36766825:A:G | L149P | 0.971 |
| 20:36766839:G:C | F144L | 0.970 |
| 20:36766839:G:T | F144L | 0.970 |
| 20:36766841:A:G | F144L | 0.970 |
| 20:36755742:T:A | K271N | 0.964 |
| 20:36755742:T:G | K271N | 0.964 |
| 20:36758129:A:G | L228P | 0.963 |
| 20:36767985:A:G | L138P | 0.962 |
| 20:36754797:A:C | S309R | 0.957 |
| 20:36754797:A:T | S309R | 0.957 |
| 20:36754799:T:G | S309R | 0.957 |
| 20:36770928:A:C | S100R | 0.957 |
| 20:36770928:A:T | S100R | 0.957 |
| 20:36770930:T:G | S100R | 0.957 |
| 20:36766794:G:C | F159L | 0.956 |
| 20:36766794:G:T | F159L | 0.956 |
| 20:36766796:A:G | F159L | 0.956 |
| 20:36767973:A:G | F142S | 0.949 |
| 20:36766780:A:G | F164S | 0.946 |
dbSNP variants (sampled 300 via entrez): RS1000191120 (20:36763905 A>AAG), RS1000251492 (20:36762224 A>C), RS1000312909 (20:36768630 G>T), RS1000363646 (20:36760946 G>A,C), RS1000376783 (20:36769003 C>T), RS1000396277 (20:36760765 G>A), RS1000485227 (20:36761904 G>C), RS1000723548 (20:36774556 C>T), RS1000755230 (20:36774276 A>G), RS1000910599 (20:36756547 T>A,C), RS1000982305 (20:36757173 T>A,G), RS1001427832 (20:36753217 G>A,T), RS1001594663 (20:36752510 G>A), RS1001626759 (20:36768519 G>T), RS1001743870 (20:36766963 C>A,G)
Disease associations
OMIM: gene MIM:609175 | 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 |
|---|---|---|
| GCST007401_21 | Factor VII activity | 7.000000e-07 |
| GCST009847_9 | Hallux valgus | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004619 | factor VII measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| Resveratrol | affects cotreatment, increases expression | 2 |
| Air Pollutants | affects cotreatment, affects expression, increases abundance, decreases expression | 2 |
| Arsenic | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | increases expression, increases mutagenesis | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Estradiol | decreases reaction, increases expression, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| alpha-pinene | affects cotreatment, affects expression, increases abundance | 1 |
| propionaldehyde | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, affects expression, increases abundance | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | 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.