ORC3
gene geneOn this page
Also known as IMAGE50150LATHEO
Summary
ORC3 (origin recognition complex subunit 3, HGNC:8489) is a protein-coding gene on chromosome 6q15, encoding Origin recognition complex subunit 3 (Q9UBD5). Component of the origin recognition complex (ORC) that binds origins of replication. It is a selective cancer dependency (DepMap: 42.5% of cell lines).
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene.
Source: NCBI Gene 23595 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 136 total — 2 likely-pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 42.5% of screened cell lines
- MANE Select transcript:
NM_012381
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8489 |
| Approved symbol | ORC3 |
| Name | origin recognition complex subunit 3 |
| Location | 6q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IMAGE50150, LATHEO |
| Ensembl gene | ENSG00000135336 |
| Ensembl biotype | protein_coding |
| OMIM | 604972 |
| Entrez | 23595 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 24 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000257789, ENST00000392844, ENST00000468486, ENST00000478028, ENST00000508875, ENST00000546266, ENST00000681069, ENST00000850561, ENST00000891527, ENST00000891528, ENST00000891529, ENST00000891530, ENST00000891531, ENST00000891532, ENST00000891533, ENST00000891534, ENST00000891535, ENST00000891536, ENST00000911372, ENST00000911373, ENST00000911374, ENST00000954635, ENST00000954636, ENST00000954637, ENST00000954638, ENST00000954639, ENST00000954640
RefSeq mRNA: 3 — MANE Select: NM_012381
NM_001197259, NM_012381, NM_181837
CCDS: CCDS43486, CCDS5012, CCDS56440
Canonical transcript exons
ENST00000392844 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000918674 | 87665754 | 87665833 |
| ENSE00000918675 | 87664743 | 87664859 |
| ENSE00000918676 | 87663003 | 87663144 |
| ENSE00000918680 | 87636407 | 87636486 |
| ENSE00000918681 | 87634845 | 87634961 |
| ENSE00000918682 | 87621950 | 87622013 |
| ENSE00000918683 | 87621354 | 87621487 |
| ENSE00000918684 | 87616314 | 87616427 |
| ENSE00000918685 | 87612089 | 87612248 |
| ENSE00000918686 | 87609096 | 87609229 |
| ENSE00001513332 | 87656906 | 87656982 |
| ENSE00001855575 | 87667018 | 87667451 |
| ENSE00003546411 | 87594353 | 87594407 |
| ENSE00003575034 | 87657921 | 87658018 |
| ENSE00003614651 | 87605917 | 87606021 |
| ENSE00003630477 | 87603384 | 87603528 |
| ENSE00003644874 | 87607673 | 87607824 |
| ENSE00003652621 | 87653116 | 87653249 |
| ENSE00003676139 | 87601784 | 87601881 |
| ENSE00004282117 | 87590135 | 87590192 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 93.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.1069 / max 731.9796, expressed in 1796 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 68841 | 31.1069 | 1796 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| triceps brachii | UBERON:0001509 | 93.58 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.72 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.35 | gold quality |
| ventricular zone | UBERON:0003053 | 91.35 | gold quality |
| gluteal muscle | UBERON:0002000 | 91.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.90 | gold quality |
| embryo | UBERON:0000922 | 90.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.29 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.29 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.03 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.96 | gold quality |
| biceps brachii | UBERON:0001507 | 89.68 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.24 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.16 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.04 | gold quality |
| sperm | CL:0000019 | 89.00 | gold quality |
| adrenal gland | UBERON:0002369 | 88.93 | gold quality |
| right uterine tube | UBERON:0001302 | 88.79 | gold quality |
| deltoid | UBERON:0001476 | 88.76 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.71 | gold quality |
| vastus lateralis | UBERON:0001379 | 88.66 | silver quality |
| male germ cell | CL:0000015 | 88.55 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.54 | gold quality |
| pons | UBERON:0000988 | 88.33 | gold quality |
| myocardium | UBERON:0002349 | 88.20 | gold quality |
| quadriceps femoris | UBERON:0001377 | 88.10 | silver quality |
| muscle of leg | UBERON:0001383 | 87.98 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.96 | gold quality |
| muscle organ | UBERON:0001630 | 87.96 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 87.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting ORC3, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-8066 | 99.05 | 68.66 | 1532 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-3145-5P | 98.57 | 67.83 | 900 |
| HSA-MIR-5572 | 98.55 | 65.84 | 970 |
| HSA-MIR-3680-5P | 98.06 | 66.20 | 394 |
| HSA-MIR-4294 | 97.86 | 65.72 | 1110 |
| HSA-MIR-3198 | 97.84 | 65.64 | 579 |
| HSA-MIR-4309 | 97.84 | 65.45 | 588 |
| HSA-MIR-6514-3P | 97.52 | 66.50 | 808 |
| HSA-MIR-6855-5P | 97.51 | 66.03 | 830 |
| HSA-MIR-4798-3P | 95.89 | 63.63 | 104 |
| HSA-MIR-191-5P | 95.88 | 67.82 | 171 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 42.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Functional studies of the Drosophila homolog (PMID:10402192)
- Study using HCT116 haplo-insufficient cells and Orc2 hypomorphic cells demonstrates that the binding of human Ku to replication origins precedes that of Orc-3, -4, and -6 subunit binding. (PMID:15910003)
- Lifetime severity of positive symptoms was significantly (P = 2.50 x 10(-5)) associated with a SNP within the origin recognition complex subunit 3-like (ORC3L) gene, a gene implicated in synaptic plasticity. (PMID:18628273)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | orc3 | ENSDARG00000008805 |
| mus_musculus | Orc3 | ENSMUSG00000040044 |
| rattus_norvegicus | Orc3 | ENSRNOG00000008314 |
| drosophila_melanogaster | Orc3 | FBGN0005654 |
Protein
Protein identifiers
Origin recognition complex subunit 3 — Q9UBD5 (reviewed: Q9UBD5)
Alternative names: Origin recognition complex subunit Latheo
All UniProt accessions (2): Q9UBD5, U3KQL3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.
Subunit / interactions. Component of ORC, a complex composed of at least 6 subunits: ORC1, ORC2, ORC3, ORC4, ORC5 and ORC6. ORC is regulated in a cell-cycle dependent manner. It is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Multi-mono-ubiquitinated by OBI1; ubiquitination is important for efficient DNA replication origin site activation. Ubiquitination levels are low in mitotic and early G1-phAse cells and are induced in late G1-/early S-phase, peaking in S-phase and decrease toward the end of the cell cycle.
Similarity. Belongs to the ORC3 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UBD5-1 | 1 | yes |
| Q9UBD5-2 | 2 | |
| Q9UBD5-3 | 3 |
RefSeq proteins (3): NP_001184188, NP_036513, NP_862820 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR020795 | ORC3 | Family |
| IPR040855 | ORC_WH_C | Domain |
| IPR045663 | ORC3_ins | Domain |
| IPR045667 | ORC3_N | Domain |
Pfam: PF07034, PF18137, PF19675
Enzyme classification (BRENDA):
- EC 3.6.4.B8 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
UniProt features (66 total): helix 31, strand 9, sequence variant 8, turn 7, sequence conflict 6, modified residue 2, splice variant 2, chain 1
Structure
Experimental structures (PDB)
15 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7JPO | ELECTRON MICROSCOPY | 3.2 |
| 7JPQ | ELECTRON MICROSCOPY | 3.5 |
| 8S0D | ELECTRON MICROSCOPY | 3.6 |
| 7JPP | ELECTRON MICROSCOPY | 3.7 |
| 7CTE | ELECTRON MICROSCOPY | 3.8 |
| 8S0E | ELECTRON MICROSCOPY | 3.8 |
| 7JPR | ELECTRON MICROSCOPY | 4 |
| 8S0C | ELECTRON MICROSCOPY | 4 |
| 8S0F | ELECTRON MICROSCOPY | 4.1 |
| 7JPS | ELECTRON MICROSCOPY | 4.4 |
| 7CTF | ELECTRON MICROSCOPY | 4.8 |
| 7CTG | ELECTRON MICROSCOPY | 5 |
| 5UJ8 | X-RAY DIFFRACTION | 6 |
| 8RWV | ELECTRON MICROSCOPY | 6.68 |
| 5UJM | ELECTRON MICROSCOPY | 18 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBD5-F1 | 80.51 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 23, 516
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-113507 | E2F-enabled inhibition of pre-replication complex formation |
| R-HSA-176187 | Activation of ATR in response to replication stress |
| R-HSA-68616 | Assembly of the ORC complex at the origin of replication |
| R-HSA-68689 | CDC6 association with the ORC:origin complex |
| R-HSA-68867 | Assembly of the pre-replicative complex |
| R-HSA-68949 | Orc1 removal from chromatin |
| R-HSA-68962 | Activation of the pre-replicative complex |
MSigDB gene sets: 139 (showing top):
chr6q15, REACTOME_DNA_REPLICATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, REACTOME_ACTIVATION_OF_ATR_IN_RESPONSE_TO_REPLICATION_STRESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, PATIL_LIVER_CANCER, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, MODULE_239, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, BECKER_TAMOXIFEN_RESISTANCE_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_DNA_REPLICATION
GO Biological Process (5): DNA replication (GO:0006260), DNA replication initiation (GO:0006270), regulation of DNA replication (GO:0006275), glial cell proliferation (GO:0014009), neural precursor cell proliferation (GO:0061351)
GO Molecular Function (3): DNA replication origin binding (GO:0003688), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (10): chromosome, telomeric region (GO:0000781), chromatin (GO:0000785), origin recognition complex (GO:0000808), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear pre-replicative complex (GO:0005656), nuclear origin of replication recognition complex (GO:0005664), nuclear body (GO:0016604), DNA replication preinitiation complex (GO:0031261), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Assembly of the pre-replicative complex | 2 |
| DNA Replication Pre-Initiation | 2 |
| E2F mediated regulation of DNA replication | 1 |
| G2/M Checkpoints | 1 |
| Switching of origins to a post-replicative state | 1 |
| G1/S Transition | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleoplasm | 3 |
| nuclear protein-containing complex | 3 |
| DNA metabolic process | 2 |
| cell population proliferation | 2 |
| chromosome | 2 |
| cellular anatomical structure | 2 |
| origin recognition complex | 2 |
| intracellular membraneless organelle | 2 |
| DNA biosynthetic process | 1 |
| DNA-templated DNA replication | 1 |
| DNA replication | 1 |
| regulation of DNA metabolic process | 1 |
| gliogenesis | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosomal region | 1 |
| protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| pre-replicative complex | 1 |
| MCM complex | 1 |
| nuclear chromosome | 1 |
| nuclear pre-replicative complex | 1 |
| protein-DNA complex | 1 |
Protein interactions and networks
STRING
1659 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ORC3 | ORC5 | O43913 | 997 |
| ORC3 | ORC4 | O43929 | 996 |
| ORC3 | ORC6 | Q9Y5N6 | 989 |
| ORC3 | ORC2 | Q13416 | 953 |
| ORC3 | CDT1 | Q9H211 | 821 |
| ORC3 | MCM3 | P25205 | 813 |
| ORC3 | CDC6 | Q99741 | 775 |
| ORC3 | LRWD1 | Q9UFC0 | 732 |
| ORC3 | MCM5 | P33992 | 711 |
| ORC3 | CDC45 | O75419 | 709 |
| ORC3 | MCM4 | P33991 | 709 |
| ORC3 | DBF4 | Q9UBU7 | 703 |
| ORC3 | ORC1 | Q13415 | 680 |
| ORC3 | MCM6 | Q14566 | 680 |
| ORC3 | SMC3 | Q9UQE7 | 630 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MCMBP | MCM3 | psi-mi:“MI:0914”(association) | 0.890 |
| ORC1 | ORC5 | psi-mi:“MI:0915”(physical association) | 0.870 |
| ORC1 | ORC5 | psi-mi:“MI:0914”(association) | 0.870 |
| ORC1 | ORC3 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| ORC2 | ORC5 | psi-mi:“MI:0914”(association) | 0.810 |
| ORC2 | ORC5 | psi-mi:“MI:0915”(physical association) | 0.810 |
| ORC2 | ORC4 | psi-mi:“MI:0914”(association) | 0.810 |
| ORC4 | ORC2 | psi-mi:“MI:0914”(association) | 0.810 |
| ORC2 | ORC3 | psi-mi:“MI:0915”(physical association) | 0.700 |
| ORC6 | ORC3 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| ORC6 | ORC3 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ORC3 | ORC5 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| ORC4 | ORC3 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| ORC3 | ORC5 | psi-mi:“MI:0914”(association) | 0.590 |
BioGRID (165): ORC3 (Protein-peptide), ORC3 (Protein-peptide), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC2 (Co-fractionation), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), ORC3 (Affinity Capture-MS)
ESM2 similar proteins: A6NES4, A7E2Y6, A8C752, A8C754, A8C756, B0I564, D3Z750, E0CZ22, E1BP36, E9Q2M9, O35821, O43156, O70576, P50851, Q0V9L1, Q15021, Q15051, Q32PJ3, Q4R180, Q5DJU3, Q5TGP6, Q642P2, Q66H56, Q692V3, Q6DCF2, Q6NXR4, Q6P2S7, Q6P3V7, Q6YHU6, Q6ZS30, Q6ZS81, Q6ZUA9, Q7M6Y6, Q7TPV4, Q7Z745, Q8BGV4, Q8BP00, Q8C3S2, Q8IYW2, Q8K368
Diamond homologs: Q32PJ3, Q4R180, Q55BR6, Q5DJU3, Q9JK30, Q9UBD5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ORC3 | “form complex” | ORC | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 69 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 |
|---|---|---|---|
| Activation of the pre-replicative complex | 12 | 83.3× | 1e-18 |
| Activation of ATR in response to replication stress | 12 | 76.7× | 2e-18 |
| DNA Replication Pre-Initiation | 6 | 40.5× | 2e-07 |
| Synthesis of DNA | 6 | 38.4× | 2e-07 |
| Orc1 removal from chromatin | 10 | 38.0× | 8e-12 |
| DNA Replication | 7 | 35.4× | 3e-08 |
| G1/S Transition | 7 | 34.7× | 3e-08 |
| Switching of origins to a post-replicative state | 5 | 32.0× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| DNA replication initiation | 13 | 137.5× | 3e-23 |
| DNA replication | 7 | 19.6× | 1e-05 |
| DNA damage response | 7 | 6.3× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
136 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 100 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3068442 | NM_012381.4(ORC3):c.647T>A (p.Val216Asp) | Likely pathogenic |
| 3068448 | NM_012381.4(ORC3):c.873+4A>G | Likely pathogenic |
SpliceAI
3968 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:87594349:ATAG:A | acceptor_gain | 1.0000 |
| 6:87594351:AG:A | acceptor_gain | 1.0000 |
| 6:87594352:GG:G | acceptor_gain | 1.0000 |
| 6:87601781:TA:T | acceptor_loss | 1.0000 |
| 6:87601782:A:AG | acceptor_gain | 1.0000 |
| 6:87601782:AGAG:A | acceptor_gain | 1.0000 |
| 6:87601783:G:GA | acceptor_gain | 1.0000 |
| 6:87601783:GA:G | acceptor_gain | 1.0000 |
| 6:87601783:GAGG:G | acceptor_gain | 1.0000 |
| 6:87601783:GAGGA:G | acceptor_gain | 1.0000 |
| 6:87603382:A:AG | acceptor_gain | 1.0000 |
| 6:87603383:G:GG | acceptor_gain | 1.0000 |
| 6:87603539:G:GG | donor_gain | 1.0000 |
| 6:87609083:A:AG | acceptor_gain | 1.0000 |
| 6:87609083:AAT:A | acceptor_gain | 1.0000 |
| 6:87609083:AATG:A | acceptor_gain | 1.0000 |
| 6:87609084:A:G | acceptor_gain | 1.0000 |
| 6:87609085:T:TA | acceptor_gain | 1.0000 |
| 6:87621485:G:GT | donor_gain | 1.0000 |
| 6:87621925:AT:A | acceptor_gain | 1.0000 |
| 6:87621930:T:TA | acceptor_gain | 1.0000 |
| 6:87621931:G:A | acceptor_gain | 1.0000 |
| 6:87654340:G:GT | donor_gain | 1.0000 |
| 6:87654354:GCAC:G | donor_gain | 1.0000 |
| 6:87657919:A:AG | acceptor_gain | 1.0000 |
| 6:87657920:G:GA | acceptor_gain | 1.0000 |
| 6:87662979:T:G | acceptor_gain | 1.0000 |
| 6:87664741:A:AG | acceptor_gain | 1.0000 |
| 6:87664742:G:GG | acceptor_gain | 1.0000 |
| 6:87665749:AAAAG:A | acceptor_gain | 1.0000 |
AlphaMissense
4700 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:87664851:T:A | W648R | 0.998 |
| 6:87664851:T:C | W648R | 0.998 |
| 6:87667047:T:C | L687P | 0.997 |
| 6:87664813:T:C | L635P | 0.996 |
| 6:87667034:G:C | A683P | 0.996 |
| 6:87663119:T:C | L603P | 0.995 |
| 6:87667038:T:A | V684D | 0.993 |
| 6:87667059:G:A | G691E | 0.993 |
| 6:87667102:A:C | R705S | 0.993 |
| 6:87667102:A:T | R705S | 0.993 |
| 6:87621390:A:C | S342R | 0.991 |
| 6:87621392:T:A | S342R | 0.991 |
| 6:87621392:T:G | S342R | 0.991 |
| 6:87665754:G:C | A651P | 0.991 |
| 6:87667025:T:C | F680L | 0.991 |
| 6:87667026:T:C | F680S | 0.991 |
| 6:87667027:T:A | F680L | 0.991 |
| 6:87667027:T:G | F680L | 0.991 |
| 6:87667065:T:A | I693K | 0.991 |
| 6:87603514:C:A | A103D | 0.990 |
| 6:87664819:T:C | L637P | 0.990 |
| 6:87665757:T:C | F652L | 0.990 |
| 6:87665759:T:A | F652L | 0.990 |
| 6:87665759:T:G | F652L | 0.990 |
| 6:87663116:C:A | A602E | 0.989 |
| 6:87664843:T:C | L645P | 0.989 |
| 6:87667101:G:C | R705T | 0.989 |
| 6:87663115:G:C | A602P | 0.988 |
| 6:87664815:C:G | H636D | 0.988 |
| 6:87667104:T:C | L706P | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000007823 (6:87660876 T>G), RS1000009061 (6:87604799 A>G), RS1000033201 (6:87603321 C>T), RS1000054225 (6:87648301 C>T), RS1000058665 (6:87592965 C>T), RS1000076356 (6:87656409 G>A), RS1000122511 (6:87646982 A>G,T), RS1000166157 (6:87598516 T>C), RS1000209377 (6:87642224 T>G), RS1000240537 (6:87641955 A>G,T), RS1000263057 (6:87610443 A>C,G), RS1000323799 (6:87646226 T>C), RS1000368857 (6:87637027 A>G), RS1000428492 (6:87648663 A>G), RS1000430516 (6:87590091 C>T)
Disease associations
OMIM: gene MIM:604972 | 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 |
|---|---|---|
| GCST001762_245 | Obesity-related traits | 4.000000e-06 |
| GCST001762_760 | Obesity-related traits | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005106 | body composition measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067165 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects expression, affects response to substance | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| abrine | decreases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| picoxystrobin | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cannabidiol | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cadmium Chloride | decreases 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 |
|---|---|---|---|
| CHEMBL5652944 | Binding | Binding affinity to human ORC3 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.