SHFL
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Also known as FLJ11286RyDENIRAVSFL
Summary
SHFL (shiftless antiviral inhibitor of ribosomal frameshifting, HGNC:25649) is a protein-coding gene on chromosome 19p13.2, encoding Shiftless antiviral inhibitor of ribosomal frameshifting protein (Q9NUL5). Inhibits programmed -1 ribosomal frameshifting (-1PRF) of a variety of mRNAs from viruses, such as HIV1, and cellular genes, such as PEG10.
This gene is an interferon stimulated gene (ISG) that inhibits viral replication. The encoded protein binds nucleic acids and inhibits programmed -1 ribosomal frameshifting required for translation by many RNA viruses. Viruses inhibited by the protein include Zika virus, dengue virus and the coronaviruses, SARS-CoV and SARS-CoV2.
Source: NCBI Gene 55337 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 16 total
- MANE Select transcript:
NM_018381
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25649 |
| Approved symbol | SHFL |
| Name | shiftless antiviral inhibitor of ribosomal frameshifting |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11286, RyDEN, IRAV, SFL |
| Ensembl gene | ENSG00000130813 |
| Ensembl biotype | protein_coding |
| OMIM | 616808 |
| Entrez | 55337 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 12 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000253110, ENST00000397881, ENST00000585919, ENST00000586730, ENST00000586889, ENST00000587609, ENST00000587710, ENST00000590378, ENST00000591813, ENST00000592551, ENST00000593131, ENST00000891192, ENST00000891193, ENST00000891194, ENST00000891195, ENST00000891196, ENST00000971497, ENST00000971498
RefSeq mRNA: 2 — MANE Select: NM_018381
NM_001308277, NM_018381
CCDS: CCDS45957, CCDS77231
Canonical transcript exons
ENST00000253110 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000896886 | 10091476 | 10091630 |
| ENSE00001730309 | 10086317 | 10086448 |
| ENSE00002809572 | 10092070 | 10093243 |
| ENSE00003566341 | 10089898 | 10090047 |
| ENSE00003580485 | 10087251 | 10087300 |
| ENSE00003639720 | 10086929 | 10087052 |
| ENSE00003650457 | 10091250 | 10091353 |
| ENSE00003691235 | 10089657 | 10089695 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 98.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.4580 / max 605.2777, expressed in 1775 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173725 | 22.6933 | 1748 |
| 173723 | 1.4364 | 842 |
| 173724 | 1.3751 | 764 |
| 173726 | 0.8612 | 443 |
| 173728 | 0.0533 | 6 |
| 173727 | 0.0386 | 11 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.58 | gold quality |
| granulocyte | CL:0000094 | 96.86 | gold quality |
| liver | UBERON:0002107 | 95.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.11 | gold quality |
| spleen | UBERON:0002106 | 94.54 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.50 | gold quality |
| pituitary gland | UBERON:0000007 | 93.90 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.90 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.52 | gold quality |
| right uterine tube | UBERON:0001302 | 93.34 | gold quality |
| right ovary | UBERON:0002118 | 92.90 | gold quality |
| body of uterus | UBERON:0009853 | 92.81 | gold quality |
| endocervix | UBERON:0000458 | 92.73 | gold quality |
| small intestine | UBERON:0002108 | 92.69 | gold quality |
| left ovary | UBERON:0002119 | 92.64 | gold quality |
| left uterine tube | UBERON:0001303 | 92.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.51 | gold quality |
| ectocervix | UBERON:0012249 | 92.47 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.42 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.33 | gold quality |
| right coronary artery | UBERON:0001625 | 92.24 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 92.17 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.16 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.13 | gold quality |
| ascending aorta | UBERON:0001496 | 92.12 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.10 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.08 | gold quality |
| right lung | UBERON:0002167 | 92.02 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.02 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 11.62 |
| E-ANND-3 | yes | 5.82 |
| E-MTAB-7606 | no | 324.55 |
| E-GEOD-124858 | no | 79.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting SHFL, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-6878-3P | 99.24 | 64.23 | 920 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
Literature-anchored findings (GeneRIF, showing 9)
- we identified a previously uncharacterized gene, C19orf66, as an IFN-stimulated gene (ISG) that inhibits Dengue virus replication (PMID:26735137)
- IRAV is an RNA binding protein and localizes to cytoplasmic processing bodies (P bodies) in uninfected cells, where it interacts with the MOV10 RISC complex RNA helicase, suggesting a role for IRAV in the processing of viral RNA. (PMID:27974568)
- Taken together, this study identified C19orf66 as a novel interferon-stimulated gene that exerts antiviral effects against Zika virus by specifically degrading th viral NS3 nonstructural protein. (PMID:32150556)
- C19orf66 is an interferon-induced inhibitor of HCV replication that restricts formation of the viral replication organelle. (PMID:32294532)
- Modulation of Viral Programmed Ribosomal Frameshifting and Stop Codon Readthrough by the Host Restriction Factor Shiftless. (PMID:34202160)
- C19orf66 Inhibits Japanese Encephalitis Virus Replication by Targeting -1 PRF and the NS3 Protein. (PMID:34309824)
- Shiftless Restricts Viral Gene Expression and Influences RNA Granule Formation during Kaposi’s Sarcoma-Associated Herpesvirus Lytic Replication. (PMID:36326276)
- Association of genetic polymorphisms in the C19orf66 gene and biochemical indices of HBV infected individuals in Yunnan. (PMID:37293200)
- Genetic polymorphisms in the C19orf66 gene influenced HIV-1 infection in a Yunnan population. (PMID:37701839)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | shfl | ENSDARG00000052176 |
| mus_musculus | Shfl | ENSMUSG00000038884 |
| rattus_norvegicus | Shfl | ENSRNOG00000020580 |
Protein
Protein identifiers
Shiftless antiviral inhibitor of ribosomal frameshifting protein — Q9NUL5 (reviewed: Q9NUL5)
Alternative names: Interferon-regulated antiviral protein, Repressor of yield of DENV protein
All UniProt accessions (5): Q9NUL5, K7ELT7, K7EML3, K7EMS9, K7EP02
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits programmed -1 ribosomal frameshifting (-1PRF) of a variety of mRNAs from viruses, such as HIV1, and cellular genes, such as PEG10. Interacts with the -1PRF signal of target mRNA and translating ribosomes and causes premature translation termination at the frameshifting site. Regulates HIV1 GAG-POL expression by inhibiting -1PRF. Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Also interrupts Zika virus replication by promoting viral NS3 degradation via a lysosome-dependent pathway. Can also limit the replication of hepatitis C virus (HCV) by restricting formation of viral replication organelle, West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1), herpes virus type 8 (HHV-8) and human adenovirus. Binds nucleic acids with a higher affinity for ssRNA and ssDNA than for dsDNA. Isoform 4 does not inhibit programmed ribosomal frameshifting (-1PRF). Does not bind to ribosomes.
Subunit / interactions. Interacts with PABPC1. Found in a complex with PABPC1 and LARP1. Interacts with ELAV1, MOV10 and UPF1; the interactions increase in presence of RNA. Binds to ribosomes. Interacts with GSPT1. (Microbial infection) Interacts with the human dengue virus DENV proteins NS3 and NS4A. (Microbial infection) Interacts with Zika virus protein NS3; this interaction promotes viral NS3 degradation.
Subcellular location. Cytoplasm. Nucleus. P-body.
Induction. Up-regulated by interferon (IFN) treatment. Expression increases in response to DENV infection in an IFN-dependent manner.
Similarity. Belongs to the SHFL family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUL5-1 | 1, SFL | yes |
| Q9NUL5-2 | 2 | |
| Q9NUL5-3 | 3 | |
| Q9NUL5-4 | 4, SFLS |
RefSeq proteins (2): NP_001295206, NP_060851* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026795 | SHFL | Family |
Pfam: PF15135
UniProt features (16 total): region of interest 4, splice variant 3, sequence conflict 2, short sequence motif 2, initiator methionine 1, chain 1, mutagenesis site 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9KBO | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUL5-F1 | 88.23 | 0.60 |
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 (1): 2
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 121–137 | decreased efficiency in the interaction with pabpc1 and reduced inhibitory activity against denv replication. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 238 (showing top):
GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GOBP_REGULATION_OF_TRANSLATIONAL_ELONGATION, CACCAGC_MIR138, GOBP_TRANSLATIONAL_TERMINATION, GOBP_RESPONSE_TO_INTERFERON_BETA, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, COUP_01, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, IRF7_01, ONKEN_UVEAL_MELANOMA_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN
GO Biological Process (10): regulation of translational termination (GO:0006449), response to type I interferon (GO:0034340), response to type II interferon (GO:0034341), response to type III interferon (GO:0034342), response to interferon-beta (GO:0035456), negative regulation of viral genome replication (GO:0045071), innate immune response (GO:0045087), defense response to virus (GO:0051607), viral translational frameshifting (GO:0075523), negative regulation of translational frameshifting (GO:2001125)
GO Molecular Function (5): RNA binding (GO:0003723), identical protein binding (GO:0042802), ribosome binding (GO:0043022), sequence-specific mRNA binding (GO:1990825), protein binding (GO:0005515)
GO Cellular Component (5): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to cytokine | 4 |
| innate immune response | 3 |
| cellular anatomical structure | 3 |
| translational termination | 1 |
| regulation of translation | 1 |
| regulation of protein-containing complex disassembly | 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 |
| viral process | 1 |
| viral translation | 1 |
| translational frameshifting | 1 |
| negative regulation of translational elongation | 1 |
| regulation of translational frameshifting | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| ribonucleoprotein complex binding | 1 |
| mRNA binding | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
536 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SHFL | MOV10 | Q9HCE1 | 625 |
| SHFL | LARP1 | Q6PKG0 | 479 |
| SHFL | PRPF31 | Q8WWY3 | 449 |
| SHFL | RPL11 | P25121 | 447 |
| SHFL | TRIM69 | Q86WT6 | 419 |
| SHFL | ISG20 | Q96AZ6 | 415 |
| SHFL | RSAD2 | Q8WXG1 | 392 |
| SHFL | IFI6 | P09912 | 371 |
| SHFL | ZC3HAV1 | Q7Z2W4 | 348 |
| SHFL | SAA1 | P02735 | 348 |
| SHFL | PARP12 | Q9H0J9 | 348 |
| SHFL | SAA1 | P02735 | 346 |
| SHFL | EIF4H | Q15056 | 344 |
| SHFL | IFIT1 | P09914 | 336 |
| SHFL | ISG15 | P05161 | 321 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SHFL | TNS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CADPS | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SPRY2 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | KRTAP2-3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA1 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-5 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF1 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| IKZF1 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDE4DIP | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DRICH1 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | ADAMTSL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | DTNBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | CCDC136 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP4-12 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHFL | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (123): C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid), C19orf66 (Two-hybrid)
ESM2 similar proteins: A0A1L8F1M4, A0A8M9QN10, A0JMQ9, A6NIR3, A8DZE6, A8WH69, B2KF05, F1QCY8, O43147, O43900, O54880, P0C6P5, P59729, P97433, Q13009, Q18PD9, Q2NKQ1, Q32L09, Q3U5C7, Q58D79, Q5EB20, Q5PQS0, Q5U464, Q60592, Q6IVY4, Q6P0Q8, Q6ZQF7, Q6ZUJ8, Q71QF9, Q768S4, Q7T2V3, Q7TNN8, Q7TSI1, Q7ZVP1, Q803A0, Q80U12, Q80VL3, Q80Y24, Q8BPQ7, Q8BRB7
Diamond homologs: A0JP89, A7YY07, Q32L09, Q5RJN4, Q6GMD3, Q8CAK3, Q9NUL5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 36 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 |
|---|---|---|---|
| Keratinization | 9 | 25.1× | 3e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1758 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10086447:AG:A | donor_loss | 1.0000 |
| 19:10086448:GG:G | donor_loss | 1.0000 |
| 19:10086449:GTA:G | donor_loss | 1.0000 |
| 19:10086450:T:A | donor_loss | 1.0000 |
| 19:10086904:C:A | acceptor_gain | 1.0000 |
| 19:10086927:A:AG | acceptor_gain | 1.0000 |
| 19:10086927:AGCT:A | acceptor_gain | 1.0000 |
| 19:10086928:G:GA | acceptor_gain | 1.0000 |
| 19:10086928:GC:G | acceptor_gain | 1.0000 |
| 19:10086928:GCT:G | acceptor_gain | 1.0000 |
| 19:10086928:GCTG:G | acceptor_gain | 1.0000 |
| 19:10087028:G:GT | donor_gain | 1.0000 |
| 19:10089694:AGG:A | donor_loss | 1.0000 |
| 19:10089695:GGT:G | donor_loss | 1.0000 |
| 19:10089696:G:GG | donor_gain | 1.0000 |
| 19:10089894:A:AG | acceptor_gain | 1.0000 |
| 19:10089894:ACAG:A | acceptor_gain | 1.0000 |
| 19:10089896:A:AG | acceptor_gain | 1.0000 |
| 19:10089896:A:G | acceptor_loss | 1.0000 |
| 19:10089897:G:GA | acceptor_gain | 1.0000 |
| 19:10089897:GGC:G | acceptor_gain | 1.0000 |
| 19:10089897:GGCA:G | acceptor_gain | 1.0000 |
| 19:10090041:G:GT | donor_gain | 1.0000 |
| 19:10090044:GGAG:G | donor_gain | 1.0000 |
| 19:10090045:G:GT | donor_gain | 1.0000 |
| 19:10090045:G:T | donor_gain | 1.0000 |
| 19:10090045:GAGG:G | donor_loss | 1.0000 |
| 19:10090046:AGG:A | donor_loss | 1.0000 |
| 19:10090047:GGT:G | donor_loss | 1.0000 |
| 19:10090048:G:GA | donor_loss | 1.0000 |
AlphaMissense
1916 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10089991:T:C | F110L | 0.999 |
| 19:10089992:T:C | F110S | 0.999 |
| 19:10089993:T:A | F110L | 0.999 |
| 19:10089993:T:G | F110L | 0.999 |
| 19:10090021:T:A | W120R | 0.999 |
| 19:10090021:T:C | W120R | 0.999 |
| 19:10091322:T:C | F153L | 0.999 |
| 19:10091324:C:A | F153L | 0.999 |
| 19:10091324:C:G | F153L | 0.999 |
| 19:10091600:T:C | C205R | 0.999 |
| 19:10091615:T:C | C210R | 0.999 |
| 19:10089992:T:G | F110C | 0.998 |
| 19:10089997:T:C | C112R | 0.998 |
| 19:10090018:T:A | W119R | 0.998 |
| 19:10090018:T:C | W119R | 0.998 |
| 19:10090023:G:C | W120C | 0.998 |
| 19:10090023:G:T | W120C | 0.998 |
| 19:10091259:T:C | C132R | 0.998 |
| 19:10091307:T:A | W148R | 0.998 |
| 19:10091307:T:C | W148R | 0.998 |
| 19:10091328:T:C | C155R | 0.998 |
| 19:10091349:T:C | F162L | 0.998 |
| 19:10091351:C:A | F162L | 0.998 |
| 19:10091351:C:G | F162L | 0.998 |
| 19:10091507:T:C | C174R | 0.998 |
| 19:10091601:G:A | C205Y | 0.998 |
| 19:10091615:T:A | C210S | 0.998 |
| 19:10091616:G:A | C210Y | 0.998 |
| 19:10091616:G:C | C210S | 0.998 |
| 19:10091617:C:G | C210W | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000367573 (19:10089145 A>G), RS1000752628 (19:10090129 C>G,T), RS1000814936 (19:10088935 G>A), RS1001175014 (19:10090977 T>C), RS1001496709 (19:10085716 C>T), RS1001592498 (19:10085291 G>A), RS1002369833 (19:10091906 C>T), RS1002403205 (19:10085294 G>C), RS1002690376 (19:10093359 G>C), RS1002825237 (19:10093103 C>T), RS1003133675 (19:10086528 C>T), RS1003666031 (19:10088494 G>A), RS1004004785 (19:10089575 C>T), RS1004867515 (19:10088995 A>G), RS1005134009 (19:10089580 G>A,C,T)
Disease associations
OMIM: gene MIM:616808 | disease phenotypes: MIM:614116
GenCC curated gene-disease
Mondo (1): hereditary sensory neuropathy-deafness-dementia syndrome (MONDO:0013584)
Orphanet (1): Hereditary sensory neuropathy-deafness-dementia syndrome (Orphanet:456318)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C580162 | Hereditary Sensory and Autonomic Neuropathy Type Ie (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| entinostat | increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression | 2 |
| Cisplatin | increases expression, affects expression, affects cotreatment | 2 |
| Nickel | increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic | decreases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Niclosamide | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | 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_B1HI | Abcam A-549 SHFL KO 1 | Cancer cell line | Male |
| CVCL_B2Q2 | Abcam A-549 SHFL KO 2 | Cancer cell line | Male |
| CVCL_E0NE | Ubigene HeLa SHFL KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hereditary sensory neuropathy-deafness-dementia syndrome