IFIT5
gene geneOn this page
Also known as RI58
Summary
IFIT5 (interferon induced protein with tetratricopeptide repeats 5, HGNC:13328) is a protein-coding gene on chromosome 10q23.31, encoding Interferon-induced protein with tetratricopeptide repeats 5 (Q13325). Interferon-induced RNA-binding protein involved in the human innate immune response.
Enables RNA binding activity and double-stranded DNA binding activity. Involved in defense response to virus; negative regulation of viral genome replication; and positive regulation of canonical NF-kappaB signal transduction. Located in several cellular components, including IkappaB kinase complex; actin cytoskeleton; and ruffle membrane.
Source: NCBI Gene 24138 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_012420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13328 |
| Approved symbol | IFIT5 |
| Name | interferon induced protein with tetratricopeptide repeats 5 |
| Location | 10q23.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RI58 |
| Ensembl gene | ENSG00000152778 |
| Ensembl biotype | protein_coding |
| OMIM | 616135 |
| Entrez | 24138 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000371795, ENST00000679632, ENST00000680591, ENST00000681163, ENST00000681270, ENST00000681348, ENST00000681359, ENST00000681422
RefSeq mRNA: 1 — MANE Select: NM_012420
NM_012420
CCDS: CCDS7403
Canonical transcript exons
ENST00000371795 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001456120 | 89417205 | 89420997 |
| ENSE00001456123 | 89414568 | 89414803 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 92.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.6441 / max 354.5567, expressed in 1717 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106148 | 10.6947 | 1491 |
| 106151 | 8.4829 | 1609 |
| 106150 | 0.9762 | 626 |
| 106149 | 0.3963 | 106 |
| 106147 | 0.0940 | 37 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 92.19 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.17 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.17 | gold quality |
| endothelial cell | CL:0000115 | 89.74 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.44 | gold quality |
| decidua | UBERON:0002450 | 89.07 | gold quality |
| pons | UBERON:0000988 | 88.69 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 88.50 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 88.35 | gold quality |
| heart right ventricle | UBERON:0002080 | 88.28 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 87.89 | gold quality |
| pericardium | UBERON:0002407 | 87.79 | gold quality |
| inferior olivary complex | UBERON:0002127 | 87.57 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.28 | silver quality |
| medulla oblongata | UBERON:0001896 | 87.16 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 86.86 | gold quality |
| cauda epididymis | UBERON:0004360 | 86.74 | gold quality |
| caput epididymis | UBERON:0004358 | 86.63 | gold quality |
| cranial nerve II | UBERON:0000941 | 86.53 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.38 | gold quality |
| synovial joint | UBERON:0002217 | 86.12 | gold quality |
| visceral pleura | UBERON:0002401 | 85.86 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 85.81 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 85.60 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 85.58 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 85.57 | silver quality |
| renal glomerulus | UBERON:0000074 | 85.56 | gold quality |
| nephron tubule | UBERON:0001231 | 85.55 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.53 | gold quality |
| lower lobe of lung | UBERON:0008949 | 85.27 | silver 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)
117 targeting IFIT5, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
Literature-anchored findings (GeneRIF, showing 10)
- IFIT5 recognizes cellular RNA instead of protein partners. (PMID:23317505)
- crystal structures of human IFIT5, its complex with PPP-RNAs, and an amino-terminal fragment of IFIT1 (PMID:23334420)
- IFIT5 consists of 24 alpha-helices that pack into a special “V”-like structure. (PMID:23774268)
- TRIF-N-terminal helical domain shares structural similarity with IFIT5. (PMID:24311583)
- show that IFIT5 binds precursor and processed tRNAs, as well as other RNA polymerase III transcripts. Our findings establish the RNA recognition specificity of the human innate immune response protein IFIT5 (PMID:25092312)
- IFIT5 promotes SeV-induced IKK phosphorylation and NF-kappaB activation by regulating the recruitment of IKK to TAK1. (PMID:26334375)
- Expression of interferon induced protein with tetratricopeptide repeats 5 (IFIT5) is positively correlated with pathological characteristics, and predicts a poor prognosis of bladder cancer patients. (PMID:31164632)
- Development of bis-ANS-based modified fluorescence titration assay for IFIT/RNA studies. (PMID:32962861)
- IFIT5 Negatively Regulates the Type I IFN Pathway by Disrupting TBK1-IKKepsilon-IRF3 Signalosome and Degrading IRF3 and IKKepsilon. (PMID:33858962)
- Comprehensive analysis of the prognosis and biological significance for IFIT family in skin cutaneous melanoma. (PMID:34763233)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ifit10 | ENSDARG00000007467 |
| danio_rerio | ifit15 | ENSDARG00000043584 |
| danio_rerio | ifit16 | ENSDARG00000056976 |
| danio_rerio | ifit8 | ENSDARG00000057173 |
| danio_rerio | ifit14 | ENSDARG00000071012 |
| danio_rerio | ENSDARG00000088069 | |
| danio_rerio | ifit11 | ENSDARG00000090537 |
| danio_rerio | ifit12 | ENSDARG00000090977 |
Paralogs (4): IFIT3 (ENSG00000119917), IFIT2 (ENSG00000119922), IFIT1 (ENSG00000185745), IFIT1B (ENSG00000204010)
Protein
Protein identifiers
Interferon-induced protein with tetratricopeptide repeats 5 — Q13325 (reviewed: Q13325)
Alternative names: Interferon-induced 58 kDa protein, Retinoic acid- and interferon-inducible 58 kDa protein
All UniProt accessions (5): Q13325, A0A7P0T9H9, A0A7P0TB01, A0A7P0TBP9, A0A7P0Z4E6
UniProt curated annotations — full annotation on UniProt →
Function. Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments. Specifically binds single-stranded RNA bearing a 5’-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2’-O-methylation of the 5’ cap and bear a 5’-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-sequence-specific manner. Also recognizes and selectively binds AT-rich dsDNA. Additionally, as a mediator in innate immunity, positively regulates IKK-NFKB signaling by sinergizing the recruitment of IKK to MAP3K7.
Subunit / interactions. Monomer. Interacts with MAP3K7 and the components of the IKK core complex CHUK, IKBKB and IKBKG; the interaction synergizes the recruitment of IKK to MAP3K7 and enhances IKK phosphorylation.
Subcellular location. Cell projection. Ruffle membrane.
Domain organisation. RNA recognition is mediated by a convoluted intramolecular fold of the TPR repeats (TPR eddy), which scaffolds unique additional helices that form an RNA binding cleft. Undergoes a conformational change upon RNA-binding: unliganded exists in a more open conformation, facilitating RNA entry.
Induction. By interferons (IFNs).
Similarity. Belongs to the IFIT family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13325-1 | 1 | yes |
| Q13325-2 | 2 |
RefSeq proteins (1): NP_036552* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR013105 | TPR_2 | Repeat |
| IPR019734 | TPR_rpt | Repeat |
Pfam: PF07719, PF13181, PF13374, PF13424
UniProt features (90 total): mutagenesis site 36, helix 29, repeat 8, site 7, strand 4, sequence conflict 2, chain 1, splice variant 1, turn 1, region of interest 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4HOR | X-RAY DIFFRACTION | 1.86 |
| 4J0U | X-RAY DIFFRACTION | 1.97 |
| 4HOS | X-RAY DIFFRACTION | 2 |
| 4HOQ | X-RAY DIFFRACTION | 2.07 |
| 3ZGQ | X-RAY DIFFRACTION | 2.2 |
| 4HOT | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13325-F1 | 92.41 | 0.80 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (7): 33 (interaction with ppp-rna); 37 (interaction with ppp-rna); 41 (interaction with ppp-rna); 150 (interaction with ppp-rna); 186 (interaction with ppp-rna); 250 (interaction with ppp-rna); 288 (interaction with the 5’-triphosphate group of ppp-rna)
Mutagenesis-validated functional residues (36):
| Position | Phenotype |
|---|---|
| 33 | no effect on rna-binding but changes size profile of rna bound. reduces ppp-rna-binding. |
| 37 | no effect on rna-binding but changes size profile of rna bound. |
| 37 | abolishes ppp-rna-binding. |
| 41 | no effect on rna-binding but changes size profile of rna bound. abolishes ppp-rna-binding. |
| 48 | inhibits rna-binding. |
| 150 | abolishes ppp-rna-binding. |
| 150 | inhibits rna-binding. |
| 150 | reduces rna-binding. |
| 156 | no effect on rna-binding. reduces ppp-rna-binding. |
| 185–186 | reduces binding to rna and dna. |
| 186 | abolishes rna-binding. |
| 250 | no effect on rna-binding but changes size profile of rna bound. abolishes ppp-rna-binding. |
| 253–254 | reduces binding to rna and dna. |
| 253 | abolishes rna-binding. |
| 254 | abolishes rna-binding. |
| 257 | reduces binding to rna and dna. |
| 260 | abolishes ppp-rna-binding. |
| 284 | strongly reduces binding to dsdna. no effect on ssrna binding. |
| 287 | reduces ppp-rna-binding. |
| 288 | abolishes rna-binding. |
| 291 | no effect rna-binding. |
| 294 | strongly reduces binding to dsdna. no effect on ssrna binding. |
| 302 | reduces rna-binding. |
| 307 | reduces rna-binding. 25 fold reduction in trna-binding. |
| 309 | reduces rna-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-909733 | Interferon alpha/beta signaling |
MSigDB gene sets: 201 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOCC_RUFFLE, BEIER_GLIOMA_STEM_CELL_DN, MODULE_75, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_171, DER_IFN_BETA_RESPONSE_UP, ZHAN_MULTIPLE_MYELOMA_LB_DN, GOBP_VIRAL_GENOME_REPLICATION, GOBP_VIRAL_LIFE_CYCLE
GO Biological Process (6): positive regulation of canonical NF-kappaB signal transduction (GO:0043123), negative regulation of viral genome replication (GO:0045071), innate immune response (GO:0045087), defense response to virus (GO:0051607), immune system process (GO:0002376), response to other organism (GO:0051707)
GO Molecular Function (7): tRNA binding (GO:0000049), RNA cap binding (GO:0000339), double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), single-stranded RNA binding (GO:0003727), poly(U) RNA binding (GO:0008266), protein binding (GO:0005515)
GO Cellular Component (8): cytosol (GO:0005829), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), ruffle membrane (GO:0032587), apical part of cell (GO:0045177), IkappaB kinase complex (GO:0008385), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interferon Signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| RNA binding | 3 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| viral genome replication | 1 |
| regulation of viral genome replication | 1 |
| negative regulation of viral process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| defense response | 1 |
| response to virus | 1 |
| biological_process | 1 |
| response to external biotic stimulus | 1 |
| biological process involved in interspecies interaction between organisms | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| poly-pyrimidine tract binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoskeleton | 1 |
| ruffle | 1 |
| cell projection membrane | 1 |
| leading edge membrane | 1 |
| cytosol | 1 |
| serine/threonine protein kinase complex | 1 |
Protein interactions and networks
STRING
1959 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IFIT5 | MX1 | P20591 | 786 |
| IFIT5 | RIGI | O95786 | 748 |
| IFIT5 | IFIH1 | Q9BYX4 | 739 |
| IFIT5 | IRF7 | Q92985 | 726 |
| IFIT5 | OASL | Q15646 | 716 |
| IFIT5 | EIF2AK2 | P19525 | 689 |
| IFIT5 | RSAD2 | Q8WXG1 | 676 |
| IFIT5 | USP18 | Q9UMW8 | 673 |
| IFIT5 | IRF1 | P10914 | 661 |
| IFIT5 | CMPK2 | Q5EBM0 | 645 |
| IFIT5 | TRIM25 | Q14258 | 639 |
| IFIT5 | STAT2 | P52630 | 634 |
| IFIT5 | MAVS | Q7Z434 | 627 |
| IFIT5 | OAS1 | P00973 | 625 |
| IFIT5 | OAS2 | P29728 | 614 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| IFIT5 | DMD | psi-mi:“MI:0914”(association) | 0.530 |
| AP3D1 | psi-mi:“MI:0914”(association) | 0.460 | |
| IFIT5 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| IFIT5 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| A2M | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDC37 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFIT5 | ECSIT | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFIT3 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LONP1 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRDX2 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFIT5 | RAD23A | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAST1 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF32 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| USP33 | IFIT5 | psi-mi:“MI:0914”(association) | 0.350 |
| rl3_rl3l_human | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| RBMS2 | ZNF275 | psi-mi:“MI:0914”(association) | 0.350 |
| IFIT5 | SSB | psi-mi:“MI:0914”(association) | 0.350 |
| PRKRA | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RBMS2 | psi-mi:“MI:0914”(association) | 0.350 | |
| RPL13 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP19 | IFIT5 | psi-mi:“MI:0914”(association) | 0.350 |
| FAXC | HAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| IFIT5 | CAND2 | psi-mi:“MI:0914”(association) | 0.350 |
| LIN28A | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| TGFBRAP1 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC40A1 | UBR5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC4A1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TTC3 | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SARAF | IFIT5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (110): IFIT5 (Affinity Capture-MS), IFIT5 (Proximity Label-MS), KCTD6 (Affinity Capture-MS), RNF41 (Affinity Capture-MS), CRKL (Affinity Capture-MS), DMD (Affinity Capture-MS), IKBKB (Affinity Capture-Western), MAP3K7 (Affinity Capture-Western), CHUK (Affinity Capture-Western), IKBKG (Affinity Capture-Western), CHUK (Reconstituted Complex), IKBKG (Reconstituted Complex), IFIT5 (Affinity Capture-MS), IFIT5 (Affinity Capture-MS), IFIT5 (Proximity Label-MS)
ESM2 similar proteins: A2AQW0, A2VE39, D2HRF1, E1BVR9, E7F590, F1ND48, F1QWA8, F4IDS7, F4IVI0, O02697, O35099, O94952, P09914, P42338, P48736, Q13325, Q21029, Q3V3E1, Q4R3W5, Q4R5F5, Q5F204, Q5IH14, Q5R5S1, Q5R981, Q5T764, Q5T8I9, Q5U2Z5, Q6DFJ6, Q6NX27, Q6YXW6, Q80V94, Q8BTI9, Q8N1G2, Q8VZM1, Q91XL9, Q94E75, Q99683, Q99MV5, Q9BPX3, Q9BXW6
Diamond homologs: A5A6J9, O14879, P09913, P09914, Q13325, Q4R5F5, Q5T764, Q60462, Q64112, Q64282, Q64345
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
240 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:89414800:TGAGG:T | donor_loss | 1.0000 |
| 10:89414801:GAG:G | donor_gain | 1.0000 |
| 10:89414802:AGGTA:A | donor_loss | 1.0000 |
| 10:89414803:GGTAA:G | donor_loss | 1.0000 |
| 10:89414804:G:GG | donor_gain | 1.0000 |
| 10:89414804:GTAA:G | donor_loss | 1.0000 |
| 10:89414799:ATGAG:A | donor_gain | 0.9900 |
| 10:89414800:TGAG:T | donor_gain | 0.9900 |
| 10:89414801:GAGG:G | donor_gain | 0.9900 |
| 10:89414802:AG:A | donor_gain | 0.9900 |
| 10:89414803:GG:G | donor_gain | 0.9900 |
| 10:89414805:T:A | donor_loss | 0.9900 |
| 10:89417203:A:AG | acceptor_gain | 0.9900 |
| 10:89417204:G:GG | acceptor_gain | 0.9900 |
| 10:89417204:GT:G | acceptor_gain | 0.9900 |
| 10:89417204:GTGAA:G | acceptor_gain | 0.9900 |
| 10:89417203:AGT:A | acceptor_gain | 0.9800 |
| 10:89417204:GTG:G | acceptor_gain | 0.9800 |
| 10:89415443:GGTC:G | donor_gain | 0.9600 |
| 10:89415220:ACC:A | donor_gain | 0.9500 |
| 10:89417200:GACA:G | acceptor_loss | 0.9400 |
| 10:89417201:ACAGT:A | acceptor_loss | 0.9400 |
| 10:89417203:AGTG:A | acceptor_loss | 0.9400 |
| 10:89417204:G:GA | acceptor_loss | 0.9400 |
| 10:89417204:GTGA:G | acceptor_gain | 0.9400 |
| 10:89415444:GTC:G | donor_gain | 0.9300 |
| 10:89415445:TCT:T | donor_gain | 0.9300 |
| 10:89417195:T:G | acceptor_loss | 0.9300 |
| 10:89417194:A:AG | acceptor_loss | 0.8800 |
| 10:89415138:GG:G | donor_gain | 0.8700 |
AlphaMissense
3183 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:89417686:T:C | F163L | 0.987 |
| 10:89417688:T:A | F163L | 0.987 |
| 10:89417688:T:G | F163L | 0.987 |
| 10:89418352:T:C | F385L | 0.986 |
| 10:89418354:T:A | F385L | 0.986 |
| 10:89418354:T:G | F385L | 0.986 |
| 10:89417257:T:C | F20L | 0.985 |
| 10:89417259:T:A | F20L | 0.985 |
| 10:89417259:T:G | F20L | 0.985 |
| 10:89418067:G:A | G290R | 0.985 |
| 10:89418067:G:C | G290R | 0.985 |
| 10:89417965:G:C | A256P | 0.984 |
| 10:89417971:T:C | F258L | 0.982 |
| 10:89417973:C:A | F258L | 0.982 |
| 10:89417973:C:G | F258L | 0.982 |
| 10:89418068:G:A | G290E | 0.982 |
| 10:89417674:G:C | A159P | 0.981 |
| 10:89417741:C:A | A181D | 0.980 |
| 10:89417818:G:C | A207P | 0.980 |
| 10:89418166:G:C | A323P | 0.979 |
| 10:89418233:C:A | A345D | 0.978 |
| 10:89418347:G:A | G383D | 0.978 |
| 10:89417740:G:C | A181P | 0.977 |
| 10:89417496:C:A | N99K | 0.976 |
| 10:89417496:C:G | N99K | 0.976 |
| 10:89417263:T:A | W22R | 0.974 |
| 10:89417263:T:C | W22R | 0.974 |
| 10:89417864:C:A | A222E | 0.974 |
| 10:89417966:C:A | A256D | 0.973 |
| 10:89417867:T:C | L223P | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000206130 (10:89420849 T>A,C), RS1000297209 (10:89413743 A>C,T), RS1001609230 (10:89414512 C>G,T), RS1001903955 (10:89420581 C>T), RS1002168120 (10:89420926 A>G), RS1002610565 (10:89415357 T>C), RS1002744006 (10:89415797 C>T), RS1002747842 (10:89415148 C>G,T), RS1003030136 (10:89418945 C>T), RS1003609258 (10:89416766 G>A), RS1003748075 (10:89416540 T>C), RS1004202063 (10:89419659 A>C), RS1004256458 (10:89419210 T>C), RS1005011911 (10:89414701 G>A,C,T), RS1005211298 (10:89421255 G>A,C)
Disease associations
OMIM: gene MIM:616135 | 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
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Estradiol | affects cotreatment, increases expression | 3 |
| Lipopolysaccharides | increases expression, affects reaction, affects response to substance, affects expression | 2 |
| Nickel | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects expression, affects reaction | 1 |
| Quercetin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1FX | Abcam A-549 IFIT5 KO 2 | Cancer cell line | Male |
| CVCL_B2NF | Abcam A-549 IFIT5 KO 1 | 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.