CDC42EP1
gene geneOn this page
Also known as MSE55CEP1Borg5
Summary
CDC42EP1 (CDC42 effector protein 1, HGNC:17014) is a protein-coding gene on chromosome 22q13.1, encoding Cdc42 effector protein 1 (Q00587). Probably involved in the organization of the actin cytoskeleton.
CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow.
Source: NCBI Gene 11135 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 97 total
- MANE Select transcript:
NM_152243
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17014 |
| Approved symbol | CDC42EP1 |
| Name | CDC42 effector protein 1 |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MSE55, CEP1, Borg5 |
| Ensembl gene | ENSG00000128283 |
| Ensembl biotype | protein_coding |
| OMIM | 606084 |
| Entrez | 11135 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000249014, ENST00000415670, ENST00000430687, ENST00000434728, ENST00000897681, ENST00000897682, ENST00000897683, ENST00000897684, ENST00000897685, ENST00000897686, ENST00000913122
RefSeq mRNA: 1 — MANE Select: NM_152243
NM_152243
CCDS: CCDS13949
Canonical transcript exons
ENST00000249014 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000880161 | 37566072 | 37566812 |
| ENSE00001173877 | 37560480 | 37560588 |
| ENSE00001173884 | 37568108 | 37569405 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 97.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 70.8210 / max 685.1733, expressed in 1648 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192139 | 58.4358 | 1633 |
| 192138 | 4.0959 | 1318 |
| 192147 | 1.9017 | 1000 |
| 192145 | 1.2598 | 758 |
| 192137 | 1.0908 | 641 |
| 192148 | 0.9362 | 559 |
| 192146 | 0.8779 | 549 |
| 192144 | 0.8279 | 469 |
| 192143 | 0.8020 | 509 |
| 192140 | 0.2961 | 133 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 97.93 | gold quality |
| body of stomach | UBERON:0001161 | 97.45 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.40 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.74 | gold quality |
| right coronary artery | UBERON:0001625 | 96.73 | gold quality |
| spinal cord | UBERON:0002240 | 96.40 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.34 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.30 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.07 | gold quality |
| left uterine tube | UBERON:0001303 | 96.07 | gold quality |
| stomach | UBERON:0000945 | 96.06 | gold quality |
| ascending aorta | UBERON:0001496 | 95.91 | gold quality |
| ectocervix | UBERON:0012249 | 95.88 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.79 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.64 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.59 | gold quality |
| aorta | UBERON:0000947 | 95.56 | gold quality |
| popliteal artery | UBERON:0002250 | 95.54 | gold quality |
| tibial artery | UBERON:0007610 | 95.52 | gold quality |
| omental fat pad | UBERON:0010414 | 95.37 | gold quality |
| peritoneum | UBERON:0002358 | 95.31 | gold quality |
| tibial nerve | UBERON:0001323 | 95.24 | gold quality |
| left coronary artery | UBERON:0001626 | 95.15 | gold quality |
| body of uterus | UBERON:0009853 | 94.93 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.89 | gold quality |
| skin of leg | UBERON:0001511 | 94.84 | gold quality |
| coronary artery | UBERON:0001621 | 94.67 | gold quality |
| endocervix | UBERON:0000458 | 94.42 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 578.45 |
| E-GEOD-81547 | yes | 476.09 |
| E-MTAB-10553 | yes | 23.15 |
| E-ANND-3 | yes | 13.58 |
| E-CURD-112 | yes | 12.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting CDC42EP1, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
| HSA-MIR-128-2-5P | 99.33 | 60.83 | 311 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-3180 | 98.46 | 64.68 | 348 |
| HSA-MIR-3180-3P | 98.46 | 64.68 | 348 |
Literature-anchored findings (GeneRIF, showing 4)
- CDC42EP1 activation is required for mannose receptor-mediated phagocytosis by alveolar macrophages. (PMID:15574879)
- Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling. (PMID:27913681)
- hsa_circ_0005991 promotes epithelial-mesenchymal transition by regulating miR-30b-3p/Cdc42EP1 axis in ovary endometriosis. (PMID:37757976)
- Salmonella engages CDC42 effector protein 1 for intracellular invasion. (PMID:37877586)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdc42ep1b | ENSDARG00000077792 |
| danio_rerio | cdc42ep1a | ENSDARG00000079549 |
| mus_musculus | Cdc42ep1 | ENSMUSG00000049521 |
| rattus_norvegicus | Cdc42ep1 | ENSRNOG00000008517 |
Paralogs (5): CDC42EP2 (ENSG00000149798), CDC42EP3 (ENSG00000163171), CDC42EP5 (ENSG00000167617), CDC42EP4 (ENSG00000179604), C15orf62 (ENSG00000188277)
Protein
Protein identifiers
Cdc42 effector protein 1 — Q00587 (reviewed: Q00587)
Alternative names: Binder of Rho GTPases 5, Serum protein MSE55
All UniProt accessions (4): Q00587, B0QYC6, B0QYC7, B0QYC8
UniProt curated annotations — full annotation on UniProt →
Function. Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts.
Subunit / interactions. Interacts with RHOQ and CDC42, in a GTP-dependent manner.
Subcellular location. Endomembrane system. Cytoplasm. Cytoskeleton.
Tissue specificity. Endothelial and bone marrow stromal cells.
Domain organisation. The CRIB domain mediates interaction with CDC42.
Similarity. Belongs to the BORG/CEP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q00587-1 | 1 | yes |
| Q00587-2 | 2 |
RefSeq proteins (1): NP_689449* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000095 | CRIB_dom | Domain |
| IPR029273 | Cdc42_effect-like | Domain |
| IPR051296 | Cdc42_Effector_BORG/CEP | Family |
Pfam: PF00786, PF14957
UniProt features (40 total): modified residue 19, repeat 8, compositionally biased region 5, region of interest 4, chain 1, domain 1, splice variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00587-F1 | 54.46 | 0.00 |
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 (19): 19, 27, 34, 39, 53, 65, 73, 77, 101, 113, 121, 139, 180, 190, 192, 195, 303, 350, 353
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 36–47 | no binding with cdc42. |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013404 | RAC2 GTPase cycle |
| R-HSA-9013406 | RHOQ GTPase cycle |
| R-HSA-9013408 | RHOG GTPase cycle |
| R-HSA-9013409 | RHOJ GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 184 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, TGACCTY_ERR1_Q2, MODULE_16, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, BACOLOD_RESISTANCE_TO_ALKYLATING_AGENTS_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION
GO Biological Process (5): Rho protein signal transduction (GO:0007266), regulation of cell shape (GO:0008360), positive regulation of actin filament polymerization (GO:0030838), positive regulation of pseudopodium assembly (GO:0031274), cell-cell adhesion (GO:0098609)
GO Molecular Function (3): small GTPase binding (GO:0031267), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), adherens junction (GO:0005912), focal adhesion (GO:0005925), endomembrane system (GO:0012505), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 7 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| small GTPase-mediated signal transduction | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| actin filament polymerization | 1 |
| regulation of actin filament polymerization | 1 |
| positive regulation of protein polymerization | 1 |
| positive regulation of cytoskeleton organization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| pseudopodium assembly | 1 |
| regulation of pseudopodium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| cell adhesion | 1 |
| GTPase binding | 1 |
| cadherin binding | 1 |
| cell-cell adhesion | 1 |
| cell-cell adhesion mediator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| cell-substrate junction | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDC42EP1 | RHOQ | P17081 | 810 |
| CDC42EP1 | CDC42 | P21181 | 663 |
| CDC42EP1 | PAK4 | O96013 | 473 |
| CDC42EP1 | SLC24A3 | Q9HC58 | 401 |
| CDC42EP1 | DEPDC4 | Q8N2C3 | 400 |
| CDC42EP1 | STXBP6 | Q8NFX7 | 397 |
| CDC42EP1 | KRTAP4-8 | Q9BYQ9 | 393 |
| CDC42EP1 | CDC42EP3 | Q9UKI2 | 385 |
| CDC42EP1 | OR5H1 | A6NKK0 | 369 |
| CDC42EP1 | AKT1 | P31749 | 366 |
| CDC42EP1 | CDH18 | Q13634 | 357 |
| CDC42EP1 | SEPTIN7 | Q16181 | 356 |
| CDC42EP1 | CDC42EP4 | Q9H3Q1 | 355 |
| CDC42EP1 | AKAP11 | Q9UKA4 | 326 |
| CDC42EP1 | NPIPB12 | F8W0I5 | 316 |
| CDC42EP1 | ARHGEF16 | Q5VV41 | 316 |
IntAct
147 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDC42EP1 | CDC42 | psi-mi:“MI:0915”(physical association) | 0.890 |
| CDC42 | CDC42EP1 | psi-mi:“MI:0915”(physical association) | 0.890 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PKN3 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.680 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| CA10 | WDHD1 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| CDC42EP1 | RHOJ | psi-mi:“MI:0915”(physical association) | 0.560 |
| DEF6 | CDC42EP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOJ | CDC42EP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC42EP1 | DEF6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| STK16 | UNC119B | psi-mi:“MI:0914”(association) | 0.530 |
| TIMP3 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| ANTXR1 | WFS1 | psi-mi:“MI:0914”(association) | 0.530 |
| CDC42EP1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.490 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
BioGRID (173): CDC42EP1 (Two-hybrid), DEF6 (Two-hybrid), RHOJ (Two-hybrid), CDC42EP1 (Two-hybrid), CDC42EP1 (Two-hybrid), CDC42EP1 (Two-hybrid), KRTAP4-12 (Two-hybrid), MAPKAP1 (Two-hybrid), CDC42EP1 (Two-hybrid), CDC42EP1 (Affinity Capture-MS), CDC42EP1 (Affinity Capture-MS), CDC42EP1 (Proximity Label-MS), CDC42EP1 (Proximity Label-MS), CDC42EP1 (Affinity Capture-MS), CDC42EP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2Z4LIS9, A6QPM6, A7X8B3, A7X8B5, A7X8B7, A7X8C4, A7X8C7, A7X8C9, A7XW16, A7XW20, A7XW25, O08664, O15054, O43151, O70218, O89113, P09066, P14652, P17542, P19419, P19622, P22091, P23683, P49640, P70061, P78412, P82976, P97503, Q00587, Q04890, Q05916, Q05917, Q12950, Q15270, Q17QW1, Q3U133, Q5JPB2, Q5NCY0, Q6ZW13, Q80WY3
Diamond homologs: A1A5P0, Q00587, Q08DN6, Q17QW1, Q5PQP4, Q6NZY7, Q8JZX9, Q91W92, Q9CQC5, Q9H3Q1, Q9I7F7, Q9JM96, Q9UKI2, Q9Z0X0, O14613
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK1 | unknown | CDC42EP1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 134 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 BAD and translocation to mitochondria | 7 | 66.6× | 8e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 58.8× | 1e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 58.8× | 1e-09 |
| Activation of BH3-only proteins | 7 | 43.5× | 1e-08 |
| RHO GTPases activate PKNs | 9 | 35.7× | 6e-10 |
| Intrinsic Pathway for Apoptosis | 7 | 25.6× | 5e-07 |
| RHO GTPases activate IQGAPs | 5 | 21.6× | 6e-05 |
| RAF activation | 5 | 21.0× | 7e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| substantia nigra development | 6 | 19.4× | 5e-04 |
| protein targeting | 5 | 16.2× | 4e-03 |
| intracellular protein localization | 9 | 8.3× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 5 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
589 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:37560585:CCAGG:C | donor_loss | 1.0000 |
| 22:37560586:CAGG:C | donor_loss | 1.0000 |
| 22:37560587:AGGT:A | donor_loss | 1.0000 |
| 22:37560588:GGT:G | donor_loss | 1.0000 |
| 22:37560589:GTAAC:G | donor_loss | 1.0000 |
| 22:37560590:T:G | donor_loss | 1.0000 |
| 22:37560584:GCCAG:G | donor_gain | 0.9900 |
| 22:37566808:C:G | donor_gain | 0.9900 |
| 22:37566810:ACGG:A | donor_loss | 0.9900 |
| 22:37566811:CGGT:C | donor_loss | 0.9900 |
| 22:37566812:GGT:G | donor_loss | 0.9900 |
| 22:37566813:GT:G | donor_loss | 0.9900 |
| 22:37566814:TGAG:T | donor_loss | 0.9900 |
| 22:37566815:GAGG:G | donor_loss | 0.9900 |
| 22:37560589:G:GG | donor_gain | 0.9800 |
| 22:37566813:G:GG | donor_gain | 0.9800 |
| 22:37568102:TTCTA:T | acceptor_loss | 0.9700 |
| 22:37568103:TCTA:T | acceptor_loss | 0.9700 |
| 22:37568104:CTAG:C | acceptor_loss | 0.9700 |
| 22:37568105:TA:T | acceptor_loss | 0.9700 |
| 22:37568106:A:AG | acceptor_gain | 0.9700 |
| 22:37568106:A:C | acceptor_loss | 0.9700 |
| 22:37568107:G:GG | acceptor_gain | 0.9700 |
| 22:37568107:GGC:G | acceptor_gain | 0.9700 |
| 22:37568107:GGCCT:G | acceptor_gain | 0.9700 |
| 22:37566794:G:GT | donor_gain | 0.9600 |
| 22:37568107:GGCC:G | acceptor_gain | 0.9500 |
| 22:37568106:AG:A | acceptor_gain | 0.9400 |
| 22:37568107:GG:G | acceptor_gain | 0.9400 |
| 22:37563475:G:T | donor_gain | 0.9300 |
AlphaMissense
2518 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:37566521:T:C | F58L | 0.998 |
| 22:37566523:C:A | F58L | 0.998 |
| 22:37566523:C:G | F58L | 0.998 |
| 22:37566536:T:C | F63L | 0.998 |
| 22:37566538:C:A | F63L | 0.998 |
| 22:37566538:C:G | F63L | 0.998 |
| 22:37566700:G:C | K117N | 0.997 |
| 22:37566700:G:T | K117N | 0.997 |
| 22:37566537:T:G | F63C | 0.996 |
| 22:37566482:T:C | F45L | 0.995 |
| 22:37566483:T:C | F45S | 0.995 |
| 22:37566484:C:A | F45L | 0.995 |
| 22:37566484:C:G | F45L | 0.995 |
| 22:37566537:T:C | F63S | 0.995 |
| 22:37566522:T:G | F58C | 0.994 |
| 22:37566525:G:A | G59E | 0.994 |
| 22:37566483:T:G | F45C | 0.993 |
| 22:37566488:C:G | H47D | 0.993 |
| 22:37566497:C:G | H50D | 0.993 |
| 22:37566462:T:C | I38T | 0.992 |
| 22:37566490:C:A | H47Q | 0.992 |
| 22:37566490:C:G | H47Q | 0.992 |
| 22:37566499:T:A | H50Q | 0.992 |
| 22:37566499:T:G | H50Q | 0.992 |
| 22:37566480:A:T | D44V | 0.991 |
| 22:37566522:T:C | F58S | 0.991 |
| 22:37566699:A:T | K117M | 0.991 |
| 22:37566462:T:A | I38N | 0.990 |
| 22:37566525:G:T | G59V | 0.990 |
| 22:37566705:C:A | A119D | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000573568 (22:37568508 TG>T), RS1000807351 (22:37568955 T>C,G), RS1000963281 (22:37564306 C>T), RS1001007609 (22:37559714 T>A,G), RS1001090009 (22:37569208 G>A), RS1001183772 (22:37563596 T>G), RS1001206015 (22:37564004 C>G), RS1001237779 (22:37561315 G>A,T), RS1001505664 (22:37563114 G>A), RS1001637608 (22:37566109 G>A), RS1001864095 (22:37563382 T>A), RS1001959917 (22:37559111 C>T), RS1002244761 (22:37567303 G>T), RS1002607029 (22:37566516 A>G), RS1002966604 (22:37560254 G>T)
Disease associations
OMIM: gene MIM:606084 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance | 3 |
| sodium arsenite | increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression, increases methylation | 2 |
| Estradiol | increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Particulate Matter | increases expression, increases abundance | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| testosterone undecanoate | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| muconaldehyde | decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 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.