ZNF598
gene geneOn this page
Also known as FLJ00086HEL2
Summary
ZNF598 (zinc finger protein 598, E3 ubiquitin ligase, HGNC:28079) is a protein-coding gene on chromosome 16p13.3, encoding E3 ubiquitin-protein ligase ZNF598 (Q86UK7). E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, leading to degradation of nascent peptide chains.
Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development.
Source: NCBI Gene 90850 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 107 total
- MANE Select transcript:
NM_178167
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28079 |
| Approved symbol | ZNF598 |
| Name | zinc finger protein 598, E3 ubiquitin ligase |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ00086, HEL2 |
| Ensembl gene | ENSG00000167962 |
| Ensembl biotype | protein_coding |
| OMIM | 617508 |
| Entrez | 90850 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000561787, ENST00000562103, ENST00000562988, ENST00000564556, ENST00000564824, ENST00000565396, ENST00000567008, ENST00000567625, ENST00000652647
RefSeq mRNA: 3 — MANE Select: NM_178167
NM_001405664, NM_001405665, NM_178167
Canonical transcript exons
ENST00000562103 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001162532 | 2002521 | 2002732 |
| ENSE00003470214 | 2002206 | 2002423 |
| ENSE00003476341 | 1999496 | 2000256 |
| ENSE00003478990 | 2001004 | 2001191 |
| ENSE00003498397 | 2003616 | 2003728 |
| ENSE00003515147 | 2002991 | 2003120 |
| ENSE00003539059 | 1998965 | 1999121 |
| ENSE00003571304 | 1998702 | 1998852 |
| ENSE00003578363 | 2000391 | 2000481 |
| ENSE00003582616 | 2001583 | 2001700 |
| ENSE00003593941 | 1997655 | 1998585 |
| ENSE00003843810 | 2009524 | 2009622 |
| ENSE00003849555 | 2009736 | 2009821 |
| ENSE00003849732 | 2009624 | 2009734 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 94.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4086 / max 85.6499, expressed in 1683 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155897 | 2.7737 | 1480 |
| 155896 | 2.6350 | 1316 |
Top tissues by expression
233 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of leg | UBERON:0001511 | 94.33 | gold quality |
| body of pancreas | UBERON:0001150 | 94.27 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.00 | gold quality |
| sural nerve | UBERON:0015488 | 93.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.82 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.22 | gold quality |
| granulocyte | CL:0000094 | 91.93 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.85 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.52 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.47 | gold quality |
| zone of skin | UBERON:0000014 | 91.44 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.29 | gold quality |
| left uterine tube | UBERON:0001303 | 91.25 | gold quality |
| body of stomach | UBERON:0001161 | 91.08 | gold quality |
| apex of heart | UBERON:0002098 | 90.96 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.77 | gold quality |
| transverse colon | UBERON:0001157 | 90.75 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.61 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.59 | gold quality |
| ectocervix | UBERON:0012249 | 90.58 | gold quality |
| pituitary gland | UBERON:0000007 | 90.55 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.55 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 90.52 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.52 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.45 | gold quality |
| mouth mucosa | UBERON:0003729 | 90.38 | gold quality |
| spleen | UBERON:0002106 | 90.37 | gold quality |
| left testis | UBERON:0004533 | 90.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.35 | gold quality |
| lower esophagus | UBERON:0013473 | 90.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting ZNF598, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| 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-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
Literature-anchored findings (GeneRIF, showing 8)
- ZNF598, RACK1, and 40S regulatory ubiquitylation plays a pivotal role in mammalian ribosome-associated quality control pathways. (PMID:28132843)
- The E3 ubiquitin ligase and RNA-binding protein ZNF598 orchestrate ribosome quality control of premature polyadenylated mRNAs. (PMID:28685749)
- findings reveal distinct functions for ZNF598 and its downstream RPS targets, one that negatively regulates ISG expression and infection by a range of viruses while the other is positively exploited by poxviruses. (PMID:29719242)
- ZNF598 is a tristetraprolin-like factor that can contribute to the regulation of the inflammatory potential of cytokine-producing cells (PMID:30917308)
- Attenuation of the Innate Immune Response against Viral Infection Due to ZNF598-Promoted Binding of FAT10 to RIG-I. (PMID:31433974)
- Ribosome collisions trigger cis-acting feedback inhibition of translation initiation. (PMID:32657267)
- ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72-associated ALS/FTD. (PMID:34551427)
- A distinct mammalian disome collision interface harbors K63-linked polyubiquitination of uS10 to trigger hRQT-mediated subunit dissociation. (PMID:36302773)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf598 | ENSDARG00000014945 |
| mus_musculus | Zfp598 | ENSMUSG00000041130 |
| rattus_norvegicus | Zfp598 | ENSRNOG00000012434 |
| drosophila_melanogaster | CG11414 | FBGN0035024 |
| caenorhabditis_elegans | WBGENE00016888 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase ZNF598 — Q86UK7 (reviewed: Q86UK7)
Alternative names: Zinc finger protein 598
All UniProt accessions (3): H3BPF3, H3BPG6, H3BR87
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, leading to degradation of nascent peptide chains. ZNF598 is activated when ribosomes are stalled within an mRNA following translation of prematurely polyadenylated mRNAs. Acts as a ribosome collision sensor: specifically recognizes and binds collided di-ribosome, which arises when a trailing ribosome encounters a slower leading ribosome, leading to terminally arrest translation. Following binding to colliding ribosomes, mediates monoubiquitination of 40S ribosomal proteins RPS10/eS10 and RPS3/uS3, and ‘Lys-63’-linked polyubiquitination of RPS20/uS10. Polyubiquitination of RPS20/uS10 promotes recruitment of the RQT (ribosome quality control trigger) complex, which drives the disassembly of stalled ribosomes, followed by degradation of nascent peptides. E3 ubiquitin-protein ligase activity is dependent on the E2 ubiquitin-conjugating enzyme UBE2D3. Also acts as an adapter that recruits the 4EHP-GYF2 complex to mRNAs. Independently of its role in RQC, may also act as a negative regulator of interferon-stimulated gene (ISG) expression. (Microbial infection) Required for poxvirus protein synthesis by mediating ubiquitination of RPS10/eS10 and RPS20/uS10. Poxvirus encoding mRNAs contain unusual 5’ poly(A) leaders and ZNF598 is required for their translational efficiency, possibly via its ability to suppress readthrough or sliding on shorter poly(A) tracts.
Subunit / interactions. Interacts with the E2 ubiquitin-conjugating enzyme UBE2D3. Component of the 4EHP-GYF2 complex, at least composed of EIF4E2, GIGYF2 and ZNF598.
Subcellular location. Cytoplasm. Cytosol.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the ZNF598/HEL2 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UK7-1 | 1 | yes |
| Q86UK7-2 | 2 | |
| Q86UK7-3 | 3 | |
| Q86UK7-4 | 4 |
RefSeq proteins (3): NP_001392593, NP_001392594, NP_835461* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR041888 | RING-HC_ZNF598/HEL2 | Domain |
| IPR044288 | ZNF598/HEL2 | Family |
| IPR056437 | Znf-C2H2_ZNF598/HEL2 | Domain |
| IPR057634 | PAH_ZNF598/HEL2 | Domain |
| IPR059042 | Znf_C2H2_ZNF598 | Domain |
Pfam: PF23202, PF23208, PF23230, PF25447
UniProt features (29 total): compositionally biased region 9, splice variant 6, modified residue 4, sequence variant 4, zinc finger region 2, region of interest 2, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UK7-F1 | 63.98 | 0.26 |
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 (4): 306, 437, 428, 431
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 29 | abolishes e3 ubiquitin-protein ligase activity, leading to enhanced readthrough on the poly(a)-stall sequences. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9954716 | ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA |
MSigDB gene sets: 122 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATIONAL_INITIATION, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, GOBP_NEGATIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_PROTEIN_MONOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOBP_TRANSLATIONAL_ELONGATION, GOBP_PROTEIN_K63_LINKED_UBIQUITINATION, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS
GO Biological Process (6): protein monoubiquitination (GO:0006513), protein ubiquitination (GO:0016567), negative regulation of translational initiation (GO:0045947), protein K63-linked ubiquitination (GO:0070534), rescue of stalled cytosolic ribosome (GO:0072344), ribosome-associated ubiquitin-dependent protein catabolic process (GO:1990116)
GO Molecular Function (8): RNA binding (GO:0003723), zinc ion binding (GO:0008270), ribosome binding (GO:0043022), ubiquitin protein ligase activity (GO:0061630), protein-RNA adaptor activity (GO:0140517), stalled ribosome sensor activity (GO:0170011), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (3): cytosol (GO:0005829), cytosolic ribosome (GO:0022626), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Ribosome-associated quality control | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein ubiquitination | 1 |
| protein modification by small protein conjugation | 1 |
| translational initiation | 1 |
| regulation of translational initiation | 1 |
| negative regulation of translation | 1 |
| protein polyubiquitination | 1 |
| cytoplasmic translational elongation | 1 |
| ribosome disassembly | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| ribonucleoprotein complex binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| protein-macromolecule adaptor activity | 1 |
| ribosome binding | 1 |
| molecular sensor activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| cytosol | 1 |
| ribosome | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1864 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF598 | GIGYF2 | Q6Y7W6 | 929 |
| ZNF598 | GIGYF1 | O75420 | 895 |
| ZNF598 | EIF4E2 | O60573 | 854 |
| ZNF598 | LTN1 | O94822 | 815 |
| ZNF598 | ASCC3 | Q8N3C0 | 812 |
| ZNF598 | NEMF | O60524 | 795 |
| ZNF598 | RPS20 | P17075 | 794 |
| ZNF598 | RACK1 | P25388 | 785 |
| ZNF598 | RPS10 | P46783 | 744 |
| ZNF598 | ASCC2 | Q9H1I8 | 715 |
| ZNF598 | EIF4E | P06730 | 712 |
| ZNF598 | ABCE1 | P61221 | 699 |
| ZNF598 | PELO | Q9BRX2 | 692 |
| ZNF598 | EDF1 | O60869 | 662 |
| ZNF598 | RPS3 | P23396 | 648 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| EIF4E2 | GIGYF1 | psi-mi:“MI:0914”(association) | 0.730 |
| RACK1 | RIOK3 | psi-mi:“MI:0914”(association) | 0.640 |
| GIGYF1 | ZNF598 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF598 | YWHAE | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2L3 | UBOX5 | psi-mi:“MI:0914”(association) | 0.550 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| KBTBD7 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| DIS3L | EIF4E2 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| GIGYF2 | ZNF598 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SFN | ZNF598 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRPF40A | ZNF598 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SF1 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| FOXS1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP2 | CHUK | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (516): ZNF598 (Affinity Capture-MS), ZNF598 (Co-fractionation), ZNF598 (Co-fractionation), ZNF598 (Affinity Capture-MS), ZNF598 (Proximity Label-MS), ZNF598 (Proximity Label-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS), ZNF598 (Affinity Capture-MS)
ESM2 similar proteins: A0A0U1RQ45, A0A1B0GWB2, A2A9T0, A6QPA0, A7MCY6, D3ZFB6, E9PUL5, E9Q0B3, F5GYI3, F5H4A9, J3QNX5, O70142, P0C1G7, P81408, P97764, P98077, Q148V8, Q15654, Q2KI80, Q3SX26, Q3SZL6, Q4V9L6, Q5FVJ4, Q5FW56, Q5RAC1, Q5T7N3, Q6DG50, Q6PAJ3, Q6PJ61, Q6ZMQ8, Q6ZNR0, Q6ZRV2, Q75VX8, Q7Z6L0, Q86UK7, Q86VE0, Q8BGW2, Q8BRJ3, Q8BX43, Q8C0R7
Diamond homologs: Q6PFK1, Q80YR4, Q86UK7, Q05580, Q76PD2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | ZNF598 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 86 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 |
|---|---|---|---|
| Formation of the ternary complex, and subsequently, the 43S complex | 6 | 21.6× | 4e-05 |
| SARS-CoV-1-host interactions | 7 | 20.5× | 2e-05 |
| Translation initiation complex formation | 6 | 19.0× | 4e-05 |
| Ribosomal scanning and start codon recognition | 6 | 19.0× | 4e-05 |
| SARS-CoV-1 Infection | 7 | 16.6× | 3e-05 |
| SARS-CoV-2-host interactions | 7 | 13.9× | 4e-05 |
| Formation of a pool of free 40S subunits | 6 | 11.2× | 4e-04 |
| G2/M Checkpoints | 5 | 11.2× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| translational initiation | 7 | 31.8× | 1e-06 |
| negative regulation of translation | 7 | 17.4× | 5e-05 |
| cytoplasmic translation | 5 | 11.7× | 9e-03 |
| intracellular protein localization | 8 | 10.6× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2305 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1998696:CCTGA:C | donor_loss | 1.0000 |
| 16:1998697:CTGA:C | donor_loss | 1.0000 |
| 16:1998698:TGACC:T | donor_loss | 1.0000 |
| 16:1998699:GACCT:G | donor_loss | 1.0000 |
| 16:1998700:A:AG | donor_loss | 1.0000 |
| 16:1998701:C:CA | donor_loss | 1.0000 |
| 16:1998713:C:CA | donor_gain | 1.0000 |
| 16:1998714:C:A | donor_gain | 1.0000 |
| 16:1998848:TGGGT:T | acceptor_gain | 1.0000 |
| 16:1998851:GT:G | acceptor_gain | 1.0000 |
| 16:1998853:C:CC | acceptor_gain | 1.0000 |
| 16:1998861:C:CT | acceptor_gain | 1.0000 |
| 16:1998862:A:T | acceptor_gain | 1.0000 |
| 16:2000252:GGGCG:G | acceptor_gain | 1.0000 |
| 16:2000253:GGCG:G | acceptor_gain | 1.0000 |
| 16:2000255:CG:C | acceptor_gain | 1.0000 |
| 16:2000257:C:CC | acceptor_gain | 1.0000 |
| 16:2000261:G:GC | acceptor_gain | 1.0000 |
| 16:2000407:AC:A | donor_gain | 1.0000 |
| 16:2000408:C:CA | donor_gain | 1.0000 |
| 16:2001187:CTTCC:C | acceptor_gain | 1.0000 |
| 16:2001190:CC:C | acceptor_gain | 1.0000 |
| 16:2001191:CC:C | acceptor_gain | 1.0000 |
| 16:2001192:C:CC | acceptor_gain | 1.0000 |
| 16:2001192:C:T | acceptor_gain | 1.0000 |
| 16:2001593:T:TA | donor_gain | 1.0000 |
| 16:2001600:T:TA | donor_gain | 1.0000 |
| 16:2001698:CCC:C | acceptor_gain | 1.0000 |
| 16:2001699:CCC:C | acceptor_gain | 1.0000 |
| 16:2001701:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
5873 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000226821 (16:2005283 A>G), RS1000291395 (16:2007724 T>A), RS1000472053 (16:2004227 G>A,C), RS1000600131 (16:2005440 G>A), RS1000697397 (16:2009506 G>A,T), RS1000705858 (16:2009288 C>T), RS1001033742 (16:2011195 C>A), RS1001253558 (16:2002130 G>A,C,T), RS1001817883 (16:2010142 A>G), RS1001885414 (16:1999097 T>C), RS1001908491 (16:2008799 A>T), RS1001932145 (16:2010397 G>A), RS1001960836 (16:2008590 A>C,G), RS1001989757 (16:1997516 T>C), RS1002099761 (16:2001906 C>T)
Disease associations
OMIM: gene MIM:617508 | 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
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| bufotalin | increases expression | 1 |
| propylparaben | increases expression | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | increases expression | 1 |
| Dronabinol | increases expression | 1 |
| Thiram | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C7XZ | HAP1 ZNF598 (-) | Cancer cell line | Male |
| CVCL_F1PP | HyCyte HEK293T KO-hZNF598 | Transformed cell line | Female |
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.