ELK4
gene geneOn this page
Also known as SAP1
Summary
ELK4 (ETS transcription factor ELK4, HGNC:3326) is a protein-coding gene on chromosome 1q32.1, encoding ETS domain-containing protein Elk-4 (P28324). Involved in both transcriptional activation and repression.
This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene.
Source: NCBI Gene 2005 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 63 total
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
- MANE Select transcript:
NM_001973
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3326 |
| Approved symbol | ELK4 |
| Name | ETS transcription factor ELK4 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SAP1 |
| Ensembl gene | ENSG00000158711 |
| Ensembl biotype | protein_coding |
| OMIM | 600246 |
| Entrez | 2005 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000289703, ENST00000357992, ENST00000468523, ENST00000616704, ENST00000617725, ENST00000908985, ENST00000908986, ENST00000928041, ENST00000970515
RefSeq mRNA: 2 — MANE Select: NM_001973
NM_001973, NM_021795
CCDS: CCDS1456, CCDS1457
Canonical transcript exons
ENST00000357992 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001040443 | 205618957 | 205619073 |
| ENSE00001372313 | 205619966 | 205620838 |
| ENSE00001416662 | 205607943 | 205616644 |
| ENSE00003720094 | 205623676 | 205623891 |
| ENSE00003897670 | 205631632 | 205632011 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 97.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6642 / max 142.0891, expressed in 1784 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17004 | 6.6783 | 1695 |
| 17002 | 2.7563 | 1331 |
| 17001 | 2.4728 | 1276 |
| 17003 | 0.8972 | 550 |
| 17000 | 0.8597 | 487 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 97.40 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.41 | gold quality |
| sperm | CL:0000019 | 95.11 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.32 | gold quality |
| upper leg skin | UBERON:0004262 | 93.51 | gold quality |
| skin of hip | UBERON:0001554 | 93.03 | gold quality |
| biceps brachii | UBERON:0001507 | 92.93 | gold quality |
| male germ cell | CL:0000015 | 92.86 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.67 | gold quality |
| parietal pleura | UBERON:0002400 | 92.58 | gold quality |
| seminal vesicle | UBERON:0000998 | 92.46 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.45 | gold quality |
| mammalian vulva | UBERON:0000997 | 92.40 | gold quality |
| urethra | UBERON:0000057 | 92.27 | gold quality |
| synovial joint | UBERON:0002217 | 92.26 | gold quality |
| mammary duct | UBERON:0001765 | 92.14 | gold quality |
| visceral pleura | UBERON:0002401 | 92.13 | gold quality |
| oral cavity | UBERON:0000167 | 91.52 | gold quality |
| tonsil | UBERON:0002372 | 91.38 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 91.38 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.11 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.08 | gold quality |
| pleura | UBERON:0000977 | 90.95 | gold quality |
| endometrium | UBERON:0001295 | 90.63 | gold quality |
| caput epididymis | UBERON:0004358 | 90.53 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.48 | gold quality |
| tendon | UBERON:0000043 | 90.32 | gold quality |
| vena cava | UBERON:0004087 | 90.32 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.30 | gold quality |
| tibia | UBERON:0000979 | 90.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 31.95 |
| E-ANND-3 | yes | 6.89 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
7 targets.
| Target | Regulation |
|---|---|
| CCT8 | |
| EGR1 | Unknown |
| FOS | Activation |
| INSIG2 | Activation |
| MCL1 | Unknown |
| NR2C2 | Unknown |
| TBXT |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0076.1 | ELK4 | Ets-related |
| MA0076.2 | ELK4 | Ets-related |
| MA0076.3 | ELK4 | Ets-related |
JASPAR matrix evidence (PMIDs): PMID:8524663
Upstream regulators (CollecTRI, top): AR, FOXA1
miRNA regulators (miRDB)
51 targeting ELK4, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
Literature-anchored findings (GeneRIF, showing 13)
- Crystal structure of a ternary SAP-1/SRF/c-fos SRE DNA complex (PMID:11846562)
- ELK4 is a direct androgen receptor target in prostate cancer cells. Androgens may thus contribute to the growth of prostate cancer via influencing ELK4 levels (PMID:18469865)
- SLC45A3-ELK4 may represent the first description of a recurrent RNA chimaeric transcript specific to prostate cancer that does not have a detectable DNA aberration (PMID:19136943)
- Data suggest that chimeric SLC45A3-ELK4 controls prostate cancer cell proliferation, and the chimera level correlates with prostate cancer disease progression. (PMID:22719019)
- ELK4 is overexpressed in melanoma and knocking down the ELK4 or CDK2 expression significantly attenuated the malignant phenotype of melanoma cells (PMID:26028036)
- CTCF has a role in regulating SLC45A3-ELK4 Chimeric RNA (PMID:26938874)
- Data suggest that SIRT7 undergoes Lys-63 polyubiquitination, later removed by USP7 to repress enzymatic activity of SIRT7; USP7 and SIRT7 regulate gluconeogenesis via expression of glucose-6-phosphatase catalytic subunit (G6PC); SIRT7 targets G6PC promoter through ELK4. (SIRT7 = sirtuin 7; USP7 = ubiquitin specific peptidase 7; G6PC = glucose-6-phosphatase catalytic subunit; ELK4 = transcription factor ELK4) (PMID:28655758)
- TRA2A-induced upregulation of LINC00662 regulates blood-brain barrier permeability by affecting ELK4 mRNA stability in Alzheimer’s microenvironment. (PMID:32372707)
- ELK4 promotes the development of gastric cancer by inducing M2 polarization of macrophages through regulation of the KDM5A-PJA2-KSR1 axis. (PMID:34372882)
- ELK4-mediated lncRNA SNHG22 promotes gastric cancer progression through interacting with EZH2 and regulating miR-200c-3p/Notch1 axis. (PMID:34663788)
- ELK4 Promotes Cell Cycle Progression and Stem Cell-like Characteristics in HPV-associated Cervical Cancer by Regulating the FBXO22/PTEN Axis. (PMID:37519006)
- IGF1R-phosphorylated PYCR1 facilitates ELK4 transcriptional activity and sustains tumor growth under hypoxia. (PMID:37777542)
- ELK4 targets CHMP6 to inhibit ferroptosis and enhance malignant properties of skin cutaneous melanoma cells. (PMID:39305302)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elk4 | ENSDARG00000077092 |
| mus_musculus | Elk4 | ENSMUSG00000026436 |
| rattus_norvegicus | Elk4 | ENSRNOG00000077523 |
Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Protein
Protein identifiers
ETS domain-containing protein Elk-4 — P28324 (reviewed: P28324)
Alternative names: Serum response factor accessory protein 1
All UniProt accessions (2): A0A087X2F7, P28324
UniProt curated annotations — full annotation on UniProt →
Function. Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilization of SIRT7 at promoters, followed by deacetylation of histone H3 at ‘Lys-18’ (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5’side of SRF, but does not bind DNA autonomously.
Subunit / interactions. Interacts with SIRT7.
Subcellular location. Nucleus.
Similarity. Belongs to the ETS family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P28324-1 | 1, SAP-1A | yes |
| P28324-2 | 2, SAP-1B |
RefSeq proteins (2): NP_001964, NP_068567 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178
UniProt features (28 total): helix 7, strand 6, region of interest 4, compositionally biased region 3, turn 2, chain 1, DNA-binding region 1, cross-link 1, splice variant 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1BC8 | X-RAY DIFFRACTION | 1.93 |
| 1BC7 | X-RAY DIFFRACTION | 2.01 |
| 1HBX | X-RAY DIFFRACTION | 3.15 |
| 1K6O | X-RAY DIFFRACTION | 3.19 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P28324-F1 | 60.43 | 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 (2): 167, 180
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 309 (showing top):
KEGG_MAPK_SIGNALING_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, TURJANSKI_MAPK7_TARGETS, PAX8_B, IRF7_01, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, DER_IFN_BETA_RESPONSE_UP, RYTTCCTG_ETS2_B, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, TURJANSKI_MAPK14_TARGETS, IK2_01, WANG_RESPONSE_TO_FORSKOLIN_UP, NRF2_01, HAND1E47_01, DER_IFN_GAMMA_RESPONSE_UP
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| regulation of DNA-templated transcription | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| DNA-templated transcription | 2 |
| binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| cellular developmental process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SIRT7 | ELK4 | psi-mi:“MI:0915”(physical association) | 0.520 |
| SRF | ELK4 | psi-mi:“MI:0407”(direct interaction) | 0.410 |
| ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CCL2 | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL3 | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL18 | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL23A | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL36A | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPBP | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TNFSF4 | ELK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ELK4 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| ELK4 | PRPSAP2 | psi-mi:“MI:0914”(association) | 0.350 |
| ELK4 | HNRNPUL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL4A | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| ELK4 | GRPEL1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (96): ELK4 (Synthetic Growth Defect), ELK4 (Synthetic Growth Defect), ELK4 (Biochemical Activity), ELK4 (Affinity Capture-MS), ELK4 (Affinity Capture-RNA), SIRT7 (Co-localization), ELK4 (Affinity Capture-RNA), ELK4 (Reconstituted Complex), ELK4 (Affinity Capture-Western), ELK4 (Affinity Capture-Western), DOK4 (Affinity Capture-Western), ELK4 (Reconstituted Complex), ELK4 (Co-localization), ELK4 (Affinity Capture-MS), IVNS1ABP (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8H0H2, A0JN51, A4QNP0, F8VPJ6, O13186, O46567, O57415, O70477, O94842, P09775, P15257, P22361, P28324, P32519, P36197, P37275, P50534, P55347, P59759, P79686, Q05041, Q07243, Q0P5K4, Q14872, Q15723, Q2HJ84, Q2KHR2, Q3UH06, Q5R6A9, Q5W1J6, Q60542, Q60775, Q61321, Q62947, Q64318, Q6DJL0, Q6IRR0, Q6XLJ0, Q86T24, Q8AYC1
Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ELK4 | “up-regulates quantity by expression” | INSIG2 | “transcriptional regulation” |
| CDK2 | “up-regulates activity” | ELK4 | phosphorylation |
| PCSK7 | up-regulates | ELK4 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cellular response to lipopolysaccharide | 5 | 32.7× | 4e-05 |
| inflammatory response | 7 | 17.6× | 1e-05 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — HNSC.
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1612 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:205616476:A:AC | donor_gain | 1.0000 |
| 1:205616477:C:CC | donor_gain | 1.0000 |
| 1:205616645:C:CC | acceptor_gain | 1.0000 |
| 1:205600404:A:AG | acceptor_gain | 0.9900 |
| 1:205600405:G:GA | acceptor_gain | 0.9900 |
| 1:205600405:GTT:G | acceptor_gain | 0.9900 |
| 1:205616477:CTT:C | donor_gain | 0.9900 |
| 1:205616479:T:TA | donor_gain | 0.9900 |
| 1:205616640:GGAAA:G | acceptor_gain | 0.9900 |
| 1:205616641:GAAA:G | acceptor_gain | 0.9900 |
| 1:205618953:TTA:T | donor_loss | 0.9900 |
| 1:205618954:TA:T | donor_loss | 0.9900 |
| 1:205618956:C:T | donor_loss | 0.9900 |
| 1:205619070:GTGTC:G | acceptor_loss | 0.9900 |
| 1:205619071:TGT:T | acceptor_gain | 0.9900 |
| 1:205619071:TGTCT:T | acceptor_loss | 0.9900 |
| 1:205619072:GTC:G | acceptor_loss | 0.9900 |
| 1:205619073:TCTG:T | acceptor_loss | 0.9900 |
| 1:205619074:C:CC | acceptor_gain | 0.9900 |
| 1:205619074:CT:C | acceptor_loss | 0.9900 |
| 1:205619075:T:C | acceptor_loss | 0.9900 |
| 1:205620108:A:AC | donor_gain | 0.9900 |
| 1:205620109:C:CC | donor_gain | 0.9900 |
| 1:205631533:T:TA | donor_gain | 0.9900 |
| 1:205631626:GCTCA:G | donor_loss | 0.9900 |
| 1:205631627:CTCAC:C | donor_loss | 0.9900 |
| 1:205631628:TCAC:T | donor_loss | 0.9900 |
| 1:205631629:C:CC | donor_loss | 0.9900 |
| 1:205631630:A:AC | donor_gain | 0.9900 |
| 1:205631630:A:C | donor_loss | 0.9900 |
AlphaMissense
2812 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:205620795:A:G | F84S | 1.000 |
| 1:205623748:C:A | W45C | 1.000 |
| 1:205623748:C:G | W45C | 1.000 |
| 1:205623750:A:G | W45R | 1.000 |
| 1:205623750:A:T | W45R | 1.000 |
| 1:205623785:A:G | F33S | 1.000 |
| 1:205623853:G:C | F10L | 1.000 |
| 1:205623853:G:T | F10L | 1.000 |
| 1:205623854:A:G | F10S | 1.000 |
| 1:205623855:A:G | F10L | 1.000 |
| 1:205620794:A:C | F84L | 0.999 |
| 1:205620794:A:T | F84L | 0.999 |
| 1:205620795:A:C | F84C | 0.999 |
| 1:205620796:A:G | F84L | 0.999 |
| 1:205620802:A:G | Y82H | 0.999 |
| 1:205620806:A:C | F80L | 0.999 |
| 1:205620806:A:T | F80L | 0.999 |
| 1:205620808:A:G | F80L | 0.999 |
| 1:205620825:T:A | K74I | 0.999 |
| 1:205620831:A:T | I72N | 0.999 |
| 1:205623692:C:A | R64I | 0.999 |
| 1:205623692:C:G | R64T | 0.999 |
| 1:205623695:A:G | L63P | 0.999 |
| 1:205623695:A:T | L63H | 0.999 |
| 1:205623701:C:G | R61P | 0.999 |
| 1:205623702:G:C | R61G | 0.999 |
| 1:205623707:A:G | L59P | 0.999 |
| 1:205623717:A:G | Y56H | 0.999 |
| 1:205623722:A:G | M54T | 0.999 |
| 1:205623746:C:A | G46V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000054891 (1:205615132 C>A,T), RS1000120494 (1:205607626 C>A,T), RS1000123412 (1:205610550 C>T), RS1000186153 (1:205618334 ATT>A,AT,ATTT,ATTTT), RS1000302911 (1:205632778 T>C), RS1000355730 (1:205633024 T>C), RS1000594420 (1:205631791 G>A,C), RS1000647897 (1:205632858 T>G), RS1000717322 (1:205631070 A>T), RS1000828065 (1:205628179 C>T), RS1000998473 (1:205626503 G>C), RS1001109709 (1:205626747 G>A), RS1001175949 (1:205609377 G>T), RS1001322224 (1:205621285 C>G,T), RS1001536362 (1:205621887 CCA>C)
Disease associations
OMIM: gene MIM:600246 | 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
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 6 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Cisplatin | decreases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Smoke | increases abundance, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| chloroacetaldehyde | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| geraniol | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| 2-butenal | decreases expression | 1 |
| sodium arsenite | affects splicing, increases abundance | 1 |
| ferrous chloride | increases 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 | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| asparanin A | decreases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases methylation | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Cidofovir | decreases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Arsenic | affects splicing, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8KS | Ubigene HCT 116 ELK4 KO | Cancer cell line | Male |
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.