SIKE1
gene geneOn this page
Also known as FLJ21168SIKE
Summary
SIKE1 (suppressor of IKBKE 1, HGNC:26119) is a protein-coding gene on chromosome 1p13.2, encoding Suppressor of IKBKE 1 (Q9BRV8). Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3.
SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).
Source: NCBI Gene 80143 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_025073
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26119 |
| Approved symbol | SIKE1 |
| Name | suppressor of IKBKE 1 |
| Location | 1p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21168, SIKE |
| Ensembl gene | ENSG00000052723 |
| Ensembl biotype | protein_coding |
| OMIM | 611656 |
| Entrez | 80143 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding_CDS_not_defined, 5 protein_coding, 1 retained_intron
ENST00000060969, ENST00000369524, ENST00000369528, ENST00000462123, ENST00000466657, ENST00000471969, ENST00000474562, ENST00000475335, ENST00000506320, ENST00000510745, ENST00000888003, ENST00000888004, ENST00000888005
RefSeq mRNA: 2 — MANE Select: NM_025073
NM_001102396, NM_025073
CCDS: CCDS41371, CCDS878
Canonical transcript exons
ENST00000060969 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001927894 | 114780449 | 114780685 |
| ENSE00003498049 | 114780110 | 114780215 |
| ENSE00003582002 | 114779142 | 114779284 |
| ENSE00003670208 | 114776346 | 114776459 |
| ENSE00003903604 | 114769479 | 114774372 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 96.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.3790 / max 182.1816, expressed in 1821 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13972 | 33.0512 | 1820 |
| 13971 | 1.3278 | 680 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.50 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.38 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.06 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.67 | gold quality |
| oocyte | CL:0000023 | 89.51 | gold quality |
| muscle of leg | UBERON:0001383 | 89.45 | gold quality |
| secondary oocyte | CL:0000655 | 88.14 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.05 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.66 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 87.58 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.40 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.71 | gold quality |
| endometrium | UBERON:0001295 | 86.61 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.37 | gold quality |
| tonsil | UBERON:0002372 | 86.25 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.09 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.94 | gold quality |
| apex of heart | UBERON:0002098 | 85.56 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.51 | gold quality |
| lymph node | UBERON:0000029 | 85.48 | gold quality |
| eye | UBERON:0000970 | 85.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 85.28 | gold quality |
| medial globus pallidus | UBERON:0002477 | 85.16 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 85.15 | gold quality |
| muscle organ | UBERON:0001630 | 85.14 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.11 | gold quality |
| tendon | UBERON:0000043 | 84.77 | gold quality |
| monocyte | CL:0000576 | 84.64 | gold quality |
| leukocyte | CL:0000738 | 84.57 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
201 targeting SIKE1, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
Literature-anchored findings (GeneRIF, showing 4)
- Overexpression of SIKE inhibits virus- and Toll-like receptor 3-triggered interferon-stimulated response elements (ISRE) but not NF-kappa B activation. (PMID:16281057)
- Data indicate that suppressor of IKKepsilon (SIKE) inhibits TANK-binding kinase 1 (TBK1)-mediated phosphorylation of interferon regulatory factor 3 (IRF3), which is essential to type I interferon production. (PMID:23649622)
- SIKE, a negative regulator of the interferon pathway, attenuates pathological cardiac hypertrophy. (PMID:27249321)
- mRNA expression of individual inhibitory kappaB kinases and SIKE are associated with unique prognostic significance and may act as valuable prognostic biomarkers and potential targets for future therapeutic interventions in gastric cancer. (PMID:30487159)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sike1 | ENSDARG00000102199 |
| mus_musculus | Sike1 | ENSMUSG00000027854 |
| rattus_norvegicus | Sike1 | ENSRNOG00000017502 |
| drosophila_melanogaster | Fgop2 | FBGN0031871 |
| caenorhabditis_elegans | WBGENE00007579 |
Paralogs (1): FGFR1OP2 (ENSG00000111790)
Protein
Protein identifiers
Suppressor of IKBKE 1 — Q9BRV8 (reviewed: Q9BRV8)
Alternative names: Suppressor of IKK-epsilon
All UniProt accessions (1): Q9BRV8
UniProt curated annotations — full annotation on UniProt →
Function. Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and RIGI. Does not inhibit NF-kappa-B activation pathways. Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex, forming the extended (SIKE1:SLMAP)STRIPAK complex. The (SIKE1:SLMAP)STRIPAK complex dephosphorylates STK3 leading to the inhibition of Hippo signaling and the control of cell growth.
Subunit / interactions. Interacts with IKBKE and TBK1 via its coiled coil region. Interaction with TBK1 is disrupted upon viral infection or TLR3 stimulation. Interacts with CDC42BPB. Interacts with SIKE1 which mediates association with the STRIPAK core complex composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26.
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed. Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and leukocytes. Present in all cell lines tested (at protein level).
Similarity. Belongs to the SIKE family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRV8-1 | 1 | yes |
| Q9BRV8-2 | 2 |
RefSeq proteins (2): NP_001095866, NP_079349* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008555 | SIKE | Family |
Pfam: PF05769
UniProt features (19 total): mutagenesis site 10, sequence conflict 3, coiled-coil region 2, helix 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6AKK | X-RAY DIFFRACTION | 1.5 |
| 6AKL | X-RAY DIFFRACTION | 1.75 |
| 6AKM | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRV8-F1 | 85.88 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 96 | loss of (sike1:slmap)stripak complex formation; when associated with a-109. |
| 97 | loss of (sike1:slmap)stripak complex formation. |
| 101 | loss of (sike1:slmap)stripak complex formation. |
| 109 | loss of (sike1:slmap)stripak complex formation; when associated with a-109. |
| 15 | loss of interaction with slmap. |
| 19 | loss of interaction with slmap. |
| 36 | loss of interaction with slmap. |
| 43 | no effect on interaction with slmap. |
| 90 | loss of (sike1:slmap)stripak complex formation. |
| 94 | loss of (sike1:slmap)stripak complex formation. |
Function
Pathways and Gene Ontology
Reactome pathways
15 pathways
| ID | Pathway |
|---|---|
| R-HSA-918233 | TRAF3-dependent IRF activation pathway |
| R-HSA-933541 | TRAF6 mediated IRF7 activation |
| R-HSA-9692916 | SARS-CoV-1 activates/modulates innate immune responses |
| R-HSA-9705671 | SARS-CoV-2 activates/modulates innate and adaptive immune responses |
| R-HSA-1643685 | Disease |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-168928 | DDX58/IFIH1-mediated induction of interferon-alpha/beta |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9678108 | SARS-CoV-1 Infection |
| R-HSA-9679506 | SARS-CoV Infections |
| R-HSA-9692914 | SARS-CoV-1-host interactions |
| R-HSA-9694516 | SARS-CoV-2 Infection |
| R-HSA-9705683 | SARS-CoV-2-host interactions |
| R-HSA-9824446 | Viral Infection Pathways |
MSigDB gene sets: 200 (showing top):
REACTOME_DDX58_IFIH1_MEDIATED_INDUCTION_OF_INTERFERON_ALPHA_BETA, GSE45365_NK_CELL_VS_CD8_TCELL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_INNATE_IMMUNE_SYSTEM, TGCGCANK_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_HIPPO_SIGNALING, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, PUJANA_CHEK2_PCC_NETWORK, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP
GO Biological Process (1): negative regulation of hippo signaling (GO:0035331)
GO Molecular Function (4): protein kinase binding (GO:0019901), protein-macromolecule adaptor activity (GO:0030674), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), FAR/SIN/STRIPAK complex (GO:0090443), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| DDX58/IFIH1-mediated induction of interferon-alpha/beta | 2 |
| SARS-CoV Infections | 2 |
| SARS-CoV-1-host interactions | 1 |
| SARS-CoV-2-host interactions | 1 |
| Immune System | 1 |
| Innate Immune System | 1 |
| Disease | 1 |
| Viral Infection Pathways | 1 |
| SARS-CoV-1 Infection | 1 |
| SARS-CoV-2 Infection | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| hippo signaling | 1 |
| regulation of hippo signaling | 1 |
| negative regulation of intracellular signal transduction | 1 |
| kinase binding | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| GTPase binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
766 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SIKE1 | SLMAP | Q14BN4 | 979 |
| SIKE1 | IKBKE | Q14164 | 904 |
| SIKE1 | TBK1 | Q9UHD2 | 891 |
| SIKE1 | MOB4 | Q9Y3A3 | 794 |
| SIKE1 | STRIP2 | Q9ULQ0 | 782 |
| SIKE1 | STRN | O43815 | 768 |
| SIKE1 | STRIP1 | Q5VSL9 | 763 |
| SIKE1 | EMD | P50402 | 729 |
| SIKE1 | PDCD10 | Q9BUL8 | 719 |
| SIKE1 | CTTNBP2NL | Q9P2B4 | 718 |
| SIKE1 | RIGI | O95786 | 701 |
| SIKE1 | STK26 | Q9P289 | 692 |
| SIKE1 | CTTNBP2 | Q8WZ74 | 639 |
| SIKE1 | IRF3 | Q14653 | 624 |
| SIKE1 | STRN3 | Q13033 | 589 |
IntAct
110 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDCD10 | STK25 | psi-mi:“MI:0914”(association) | 0.980 |
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| STK24 | STK25 | psi-mi:“MI:0914”(association) | 0.890 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STRN3 | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| STRIP1 | PPP2CB | psi-mi:“MI:0914”(association) | 0.870 |
| STK26 | STRN | psi-mi:“MI:0914”(association) | 0.860 |
| STRIP1 | STK25 | psi-mi:“MI:0914”(association) | 0.840 |
| MOB4 | STRN | psi-mi:“MI:0914”(association) | 0.790 |
| PPP2CB | STRN | psi-mi:“MI:0914”(association) | 0.790 |
| STK26 | STK25 | psi-mi:“MI:0914”(association) | 0.790 |
| SIKE1 | SLMAP | psi-mi:“MI:0914”(association) | 0.770 |
| STRN4 | STRN | psi-mi:“MI:0914”(association) | 0.730 |
| MOB4 | STK25 | psi-mi:“MI:0914”(association) | 0.730 |
| SIKE1 | STRN | psi-mi:“MI:0914”(association) | 0.730 |
| PSMC5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2CB | CEP43 | psi-mi:“MI:0914”(association) | 0.730 |
| SLMAP | STRN | psi-mi:“MI:0914”(association) | 0.710 |
| SLMAP | STRN | psi-mi:“MI:2364”(proximity) | 0.710 |
| STRN3 | SIKE1 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (151): SIKE1 (Affinity Capture-MS), SIKE1 (Affinity Capture-MS), SIKE1 (Affinity Capture-MS), SIKE1 (Affinity Capture-MS), SIKE1 (Affinity Capture-MS), BTD (Affinity Capture-MS), ICT1 (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), STRN (Affinity Capture-MS), TTC1 (Affinity Capture-MS), SLMAP (Affinity Capture-MS), ELL (Affinity Capture-MS), STK24 (Affinity Capture-MS)
ESM2 similar proteins: A1A5P5, A2BDR7, A2CEM9, A2XW69, A4IGC3, A8KB59, B0WPU9, O76878, P16568, P34609, P70302, P84903, Q08C53, Q0V9T6, Q0VCF3, Q13586, Q17AF4, Q29EP6, Q2KI89, Q2T9W6, Q58CP9, Q5FWT9, Q5I033, Q5R629, Q5R8J5, Q6DF11, Q6DIX6, Q6GP65, Q6NRB0, Q6ZP65, Q78PB6, Q7PWT9, Q7T338, Q7XU27, Q7Z3E5, Q8AVR2, Q8BIJ7, Q8K4I6, Q8MJK1, Q91WK0
Diamond homologs: O02197, Q0VCF3, Q5FWT9, Q5I033, Q5R8J5, Q6DF11, Q6GP65, Q8AVR2, Q9BRV8, Q9CPR7, Q5R561, Q5ZKJ4, Q6TA25, Q7T338, Q9CRA9, Q9NVK5, Q9VM65
SIGNOR signaling
7 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TBK1 | “up-regulates quantity” | SIKE1 | phosphorylation |
| TBK1 | “down-regulates quantity” | SIKE1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 |
|---|---|---|---|
| Degradation of beta-catenin by the destruction complex | 5 | 25.4× | 2e-04 |
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 5 | 17.1× | 2e-04 |
| RHO GTPases Activate Formins | 6 | 13.7× | 2e-04 |
| EML4 and NUDC in mitotic spindle formation | 5 | 13.7× | 5e-04 |
| Resolution of Sister Chromatid Cohesion | 5 | 12.7× | 6e-04 |
| Separation of Sister Chromatids | 7 | 12.5× | 2e-04 |
| Mitotic Prometaphase | 6 | 12.2× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of hippo signaling | 7 | 91.0× | 2e-10 |
| intracellular signal transduction | 8 | 5.7× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
754 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:114774368:TCAAG:T | acceptor_gain | 1.0000 |
| 1:114774369:CAAG:C | acceptor_gain | 1.0000 |
| 1:114774369:CAAGC:C | acceptor_gain | 1.0000 |
| 1:114774371:AG:A | acceptor_gain | 1.0000 |
| 1:114774372:GC:G | acceptor_loss | 1.0000 |
| 1:114774373:C:CC | acceptor_gain | 1.0000 |
| 1:114776377:CAAAA:C | donor_gain | 1.0000 |
| 1:114779140:A:AC | donor_gain | 1.0000 |
| 1:114779140:ACTG:A | donor_gain | 1.0000 |
| 1:114779141:C:CC | donor_gain | 1.0000 |
| 1:114779141:CTG:C | donor_gain | 1.0000 |
| 1:114779141:CTGC:C | donor_gain | 1.0000 |
| 1:114779280:TAGCT:T | acceptor_gain | 1.0000 |
| 1:114779282:GCTC:G | acceptor_loss | 1.0000 |
| 1:114779283:CT:C | acceptor_gain | 1.0000 |
| 1:114779283:CTCTG:C | acceptor_loss | 1.0000 |
| 1:114779285:C:CC | acceptor_gain | 1.0000 |
| 1:114779286:T:A | acceptor_loss | 1.0000 |
| 1:114780436:CCCT:C | donor_gain | 1.0000 |
| 1:114780483:G:C | donor_gain | 1.0000 |
| 1:114774370:AAG:A | acceptor_gain | 0.9900 |
| 1:114774374:T:A | acceptor_loss | 0.9900 |
| 1:114774659:T:A | donor_gain | 0.9900 |
| 1:114776340:TCTTA:T | donor_loss | 0.9900 |
| 1:114776342:TTA:T | donor_loss | 0.9900 |
| 1:114776456:TTTC:T | acceptor_gain | 0.9900 |
| 1:114776458:TC:T | acceptor_gain | 0.9900 |
| 1:114776459:CC:C | acceptor_gain | 0.9900 |
| 1:114776461:T:A | acceptor_loss | 0.9900 |
| 1:114776471:T:TC | acceptor_gain | 0.9900 |
AlphaMissense
1374 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:114779224:C:G | R109P | 0.999 |
| 1:114779235:C:A | M105I | 0.999 |
| 1:114779235:C:G | M105I | 0.999 |
| 1:114779235:C:T | M105I | 0.999 |
| 1:114779242:A:G | L103P | 0.999 |
| 1:114779281:A:G | L90P | 0.999 |
| 1:114780552:A:G | L19P | 0.999 |
| 1:114774356:A:G | L180P | 0.998 |
| 1:114780531:G:T | A26D | 0.998 |
| 1:114780564:A:G | L15P | 0.998 |
| 1:114780573:G:T | A12D | 0.998 |
| 1:114780574:C:G | A12P | 0.998 |
| 1:114780116:T:C | N87D | 0.997 |
| 1:114780532:C:G | A26P | 0.997 |
| 1:114776405:C:G | A155P | 0.996 |
| 1:114779224:C:A | R109L | 0.996 |
| 1:114779228:A:C | Y108D | 0.996 |
| 1:114779239:A:T | I104N | 0.996 |
| 1:114779252:C:G | A100P | 0.996 |
| 1:114780127:A:G | L83S | 0.996 |
| 1:114780582:A:G | L9P | 0.996 |
| 1:114779225:G:C | R109G | 0.995 |
| 1:114779236:A:G | M105T | 0.995 |
| 1:114779260:T:G | H97P | 0.995 |
| 1:114780136:A:G | I80T | 0.995 |
| 1:114780522:A:G | L29P | 0.995 |
| 1:114779251:G:T | A100D | 0.994 |
| 1:114779227:T:G | Y108S | 0.993 |
| 1:114779239:A:C | I104S | 0.993 |
| 1:114779261:G:C | H97D | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000734589 (1:114778078 A>G), RS1000786880 (1:114777678 A>G), RS1000919358 (1:114771126 T>C,G), RS1001180935 (1:114776953 G>A), RS1001421391 (1:114777203 TAAC>T), RS1001457530 (1:114780913 A>G), RS1002407640 (1:114779406 G>A,T), RS1002856116 (1:114775401 A>G), RS1003008765 (1:114769023 C>T), RS1003134120 (1:114782498 T>C,G), RS1003245111 (1:114780930 TG>T), RS1003868259 (1:114775450 C>A), RS1003904309 (1:114771574 T>C), RS1004759596 (1:114780639 T>C), RS1004767886 (1:114776725 C>A)
Disease associations
OMIM: gene MIM:611656 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90000047_15 | Age at first sexual intercourse | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | decreases expression, increases abundance | 2 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases expression, increases abundance | 1 |
| torcetrapib | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methotrexate | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Theophylline | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2FD | Abcam HeLa SIKE1 KO | Cancer cell line | Female |
| CVCL_TL17 | HAP1 SIKE1 (-) 1 | Cancer cell line | Male |
| CVCL_TL18 | HAP1 SIKE1 (-) 2 | 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.