ZKSCAN8
gene geneOn this page
Also known as LD5-1ZSCAN40
Summary
ZKSCAN8 (zinc finger with KRAB and SCAN domains 8, HGNC:12983) is a protein-coding gene on chromosome 6p22.1, encoding Zinc finger protein with KRAB and SCAN domains 8 (Q15776). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
Source: NCBI Gene 7745 — RefSeq curated summary.
At a glance
- GWAS associations: 23
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_006298
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12983 |
| Approved symbol | ZKSCAN8 |
| Name | zinc finger with KRAB and SCAN domains 8 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LD5-1, ZSCAN40 |
| Ensembl gene | ENSG00000198315 |
| Ensembl biotype | protein_coding |
| OMIM | 602240 |
| Entrez | 7745 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 nonsense_mediated_decay
ENST00000330236, ENST00000457389, ENST00000536028, ENST00000606198, ENST00000885351, ENST00000885352, ENST00000885353, ENST00000918693, ENST00000948324, ENST00000948325
RefSeq mRNA: 4 — MANE Select: NM_006298
NM_001278119, NM_001278121, NM_001278122, NM_006298
CCDS: CCDS4645
Canonical transcript exons
ENST00000330236 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000848518 | 28148316 | 28148824 |
| ENSE00001372567 | 28153056 | 28159460 |
| ENSE00003496787 | 28152261 | 28152384 |
| ENSE00003597300 | 28151845 | 28151936 |
| ENSE00003680014 | 28149483 | 28149624 |
| ENSE00003843412 | 28141883 | 28142029 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 87.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4939 / max 237.4867, expressed in 1792 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66613 | 17.9451 | 1788 |
| 66614 | 0.4005 | 200 |
| 66615 | 0.1483 | 52 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 87.14 | gold quality |
| ventricular zone | UBERON:0003053 | 86.74 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.39 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.73 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.73 | gold quality |
| colonic epithelium | UBERON:0000397 | 85.13 | gold quality |
| sural nerve | UBERON:0015488 | 85.05 | gold quality |
| cortical plate | UBERON:0005343 | 84.89 | gold quality |
| body of uterus | UBERON:0009853 | 84.62 | gold quality |
| left ovary | UBERON:0002119 | 84.51 | gold quality |
| ovary | UBERON:0000992 | 84.28 | gold quality |
| right ovary | UBERON:0002118 | 84.11 | gold quality |
| tibial artery | UBERON:0007610 | 83.78 | gold quality |
| popliteal artery | UBERON:0002250 | 83.75 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 83.69 | gold quality |
| right lung | UBERON:0002167 | 83.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.57 | gold quality |
| caput epididymis | UBERON:0004358 | 83.53 | gold quality |
| lower esophagus | UBERON:0013473 | 83.53 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.53 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.47 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 83.38 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.33 | gold quality |
| corpus callosum | UBERON:0002336 | 83.26 | gold quality |
| cauda epididymis | UBERON:0004360 | 83.14 | gold quality |
| left uterine tube | UBERON:0001303 | 83.08 | gold quality |
| body of pancreas | UBERON:0001150 | 82.93 | gold quality |
| aorta | UBERON:0000947 | 82.81 | gold quality |
| endocervix | UBERON:0000458 | 82.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.50 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
283 targeting ZKSCAN8, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zkscan8 | ENSMUSG00000063894 |
| rattus_norvegicus | Zkscan8 | ENSRNOG00000053635 |
Paralogs (30): ZNF263 (ENSG00000006194), ZNF213 (ENSG00000085644), ZNF500 (ENSG00000103199), ZKSCAN1 (ENSG00000106261), ZNF205 (ENSG00000122386), ZSCAN9 (ENSG00000137185), PGBD1 (ENSG00000137338), ZNF215 (ENSG00000149054), ZSCAN12 (ENSG00000158691), ZNF394 (ENSG00000160908), ZNF75A (ENSG00000162086), ZSCAN21 (ENSG00000166529), ZNF232 (ENSG00000167840), ZNF24 (ENSG00000172466), ZNF449 (ENSG00000173275), ZSCAN4 (ENSG00000180532), ZSCAN22 (ENSG00000182318), ZNF75D (ENSG00000186376), ZNF396 (ENSG00000186496), ZNF397 (ENSG00000186812), ZSCAN30 (ENSG00000186814), ZKSCAN4 (ENSG00000187626), ZSCAN23 (ENSG00000187987), ZKSCAN3 (ENSG00000189298), ZSCAN16 (ENSG00000196812), ZSCAN25 (ENSG00000197037), ZSCAN26 (ENSG00000197062), ZNF165 (ENSG00000197279), ZSCAN31 (ENSG00000235109), ZNF853 (ENSG00000236609)
Protein
Protein identifiers
Zinc finger protein with KRAB and SCAN domains 8 — Q15776 (reviewed: Q15776)
Alternative names: LD5-1, Zinc finger protein 192
All UniProt accessions (1): Q15776
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15776-1 | 1 | yes |
| Q15776-2 | 2 |
RefSeq proteins (4): NP_001265048, NP_001265050, NP_001265051, NP_006289* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
| IPR050527 |
Pfam: PF00096, PF01352, PF02023
UniProt features (37 total): cross-link 12, zinc finger region 9, sequence conflict 5, domain 2, region of interest 2, modified residue 2, splice variant 2, chain 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15776-F1 | 65.45 | 0.09 |
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 (14): 12, 201, 26, 176, 199, 221, 272, 288, 374, 376, 413, 441, 502, 572
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 124 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, HONMA_DOCETAXEL_RESISTANCE, BILD_HRAS_ONCOGENIC_SIGNATURE, CATRRAGC_UNKNOWN, DANG_BOUND_BY_MYC, SCHLOSSER_SERUM_RESPONSE_AUGMENTED_BY_MYC, TGGAAA_NFAT_Q4_01, SANSOM_APC_MYC_TARGETS, WGTTNNNNNAAA_UNKNOWN, BENPORATH_MYC_MAX_TARGETS, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, JOHNSTONE_PARVB_TARGETS_2_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
786 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZKSCAN8 | NKAPL | Q5M9Q1 | 646 |
| ZKSCAN8 | PTAR1 | Q7Z6K3 | 506 |
| ZKSCAN8 | PM20D2 | Q8IYS1 | 453 |
| ZKSCAN8 | ZNF438 | Q7Z4V0 | 408 |
| ZKSCAN8 | CCDC184 | Q52MB2 | 390 |
| ZKSCAN8 | OR11G2 | Q8NGC1 | 377 |
| ZKSCAN8 | SACS | Q9NZJ4 | 375 |
| ZKSCAN8 | GOLGA8J | A6NMD2 | 373 |
| ZKSCAN8 | MIER3 | Q7Z3K6 | 357 |
| ZKSCAN8 | DOP1A | Q5JWR5 | 352 |
| ZKSCAN8 | LYSMD1 | Q96S90 | 352 |
| ZKSCAN8 | ZNF512 | Q96ME7 | 349 |
| ZKSCAN8 | DPH5 | Q9H2P9 | 348 |
| ZKSCAN8 | TULP4 | Q9NRJ4 | 348 |
| ZKSCAN8 | TBC1D32 | Q96NH3 | 344 |
IntAct
187 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF396 | ZNF24 | psi-mi:“MI:0914”(association) | 0.700 |
| ZKSCAN8 | ZNF444 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| MAGOH | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCEA2 | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELAVL4 | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRN | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HLA-A | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMNA | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | NEFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | NF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | PPIA | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | PRPS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT5 | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | KIF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | RNF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZKSCAN8 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | ZKSCAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (172): ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-Western), ZKSCAN8 (Reconstituted Complex), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS)
ESM2 similar proteins: A1YEP8, A1YEV9, A1YFW2, A1YG26, A1YG48, A1YG60, A2T6E3, A2T6V8, A2T712, A2T736, A2T7D2, A2T7F4, A2T7L7, A2T812, A6QNZ0, O14709, O15535, O43296, O43309, P10073, P17023, P17097, P49910, Q07231, Q12901, Q15776, Q16670, Q1LZ87, Q3MJ62, Q53GI3, Q571J5, Q5JNZ3, Q5RAE6, Q5RBX0, Q5RCD9, Q5RJ54, Q7Z7L9, Q86W11, Q8IZ26, Q8NF99
Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 133 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 7 | 24.8× | 3e-07 |
| Cap-dependent Translation Initiation | 7 | 24.8× | 3e-07 |
| SARS-CoV-1 modulates host translation machinery | 7 | 24.8× | 3e-07 |
| Eukaryotic Translation Elongation | 7 | 22.4× | 6e-07 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 21.9× | 7e-07 |
| Nonsense-Mediated Decay (NMD) | 8 | 21.4× | 1e-07 |
| SARS-CoV-2 modulates host translation machinery | 7 | 18.0× | 3e-06 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 13 | 17.6× | 2e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 18.1× | 2e-09 |
| ribosomal small subunit biogenesis | 7 | 13.0× | 2e-04 |
| rRNA processing | 8 | 9.2× | 4e-04 |
| translation | 11 | 9.2× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1074 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:28142030:G:GG | donor_gain | 1.0000 |
| 6:28148315:GAA:G | acceptor_gain | 1.0000 |
| 6:28149620:GAGAG:G | donor_gain | 1.0000 |
| 6:28149622:GAG:G | donor_gain | 1.0000 |
| 6:28149625:G:GA | donor_loss | 1.0000 |
| 6:28149626:T:G | donor_loss | 1.0000 |
| 6:28151843:A:AG | acceptor_gain | 1.0000 |
| 6:28151844:G:GG | acceptor_gain | 1.0000 |
| 6:28151844:GCC:G | acceptor_gain | 1.0000 |
| 6:28151844:GCCAT:G | acceptor_gain | 1.0000 |
| 6:28152253:T:TA | acceptor_gain | 1.0000 |
| 6:28152257:TCA:T | acceptor_loss | 1.0000 |
| 6:28152258:CA:C | acceptor_loss | 1.0000 |
| 6:28152259:A:AC | acceptor_loss | 1.0000 |
| 6:28152259:A:AG | acceptor_gain | 1.0000 |
| 6:28152260:G:A | acceptor_loss | 1.0000 |
| 6:28152260:G:GA | acceptor_gain | 1.0000 |
| 6:28152260:GA:G | acceptor_gain | 1.0000 |
| 6:28152260:GAC:G | acceptor_gain | 1.0000 |
| 6:28152260:GACT:G | acceptor_gain | 1.0000 |
| 6:28152260:GACTT:G | acceptor_gain | 1.0000 |
| 6:28152333:GATC:G | donor_gain | 1.0000 |
| 6:28152383:GG:G | donor_gain | 1.0000 |
| 6:28152384:GG:G | donor_gain | 1.0000 |
| 6:28152384:GGTAA:G | donor_loss | 1.0000 |
| 6:28152385:G:GG | donor_gain | 1.0000 |
| 6:28152386:TAA:T | donor_loss | 1.0000 |
| 6:28153052:TCAG:T | acceptor_loss | 1.0000 |
| 6:28153053:CAG:C | acceptor_loss | 1.0000 |
| 6:28142034:G:GG | donor_gain | 0.9900 |
AlphaMissense
3806 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:28153607:T:C | F443L | 1.000 |
| 6:28153609:C:A | F443L | 1.000 |
| 6:28153609:C:G | F443L | 1.000 |
| 6:28153355:T:C | F359L | 0.999 |
| 6:28153357:C:A | F359L | 0.999 |
| 6:28153357:C:G | F359L | 0.999 |
| 6:28153439:T:C | F387L | 0.999 |
| 6:28153441:C:A | F387L | 0.999 |
| 6:28153441:C:G | F387L | 0.999 |
| 6:28153523:T:C | F415L | 0.999 |
| 6:28153525:C:A | F415L | 0.999 |
| 6:28153525:C:G | F415L | 0.999 |
| 6:28153626:T:C | L449P | 0.999 |
| 6:28153691:T:C | F471L | 0.999 |
| 6:28153693:C:A | F471L | 0.999 |
| 6:28153693:C:G | F471L | 0.999 |
| 6:28153710:T:C | L477P | 0.999 |
| 6:28153775:T:C | F499L | 0.999 |
| 6:28153777:C:A | F499L | 0.999 |
| 6:28153777:C:G | F499L | 0.999 |
| 6:28153859:T:C | F527L | 0.999 |
| 6:28153861:C:A | F527L | 0.999 |
| 6:28153861:C:G | F527L | 0.999 |
| 6:28153888:C:A | H536Q | 0.999 |
| 6:28153888:C:G | H536Q | 0.999 |
| 6:28153943:T:C | F555L | 0.999 |
| 6:28153945:T:A | F555L | 0.999 |
| 6:28153945:T:G | F555L | 0.999 |
| 6:28153271:T:C | F331L | 0.998 |
| 6:28153273:T:A | F331L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000068062 (6:28150862 A>C), RS1000205924 (6:28141947 G>T), RS1000233662 (6:28144265 G>A), RS1000566792 (6:28143467 G>A,C,T), RS1000596222 (6:28143858 T>C), RS1000727827 (6:28151079 T>G), RS1000904404 (6:28158163 G>T), RS1000955718 (6:28150240 T>G), RS1001506469 (6:28145388 G>C), RS1001693494 (6:28142942 C>T), RS1001755740 (6:28145063 A>C), RS1001914159 (6:28142631 G>C), RS1001982713 (6:28140152 A>G), RS1002057206 (6:28158212 G>C), RS1002081968 (6:28158632 G>A)
Disease associations
OMIM: gene MIM:602240 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
23 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_112 | Autism spectrum disorder or schizophrenia | 3.000000e-26 |
| GCST004521_115 | Autism spectrum disorder or schizophrenia | 3.000000e-16 |
| GCST004521_163 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_166 | Autism spectrum disorder or schizophrenia | 4.000000e-24 |
| GCST004521_212 | Autism spectrum disorder or schizophrenia | 5.000000e-14 |
| GCST004521_22 | Autism spectrum disorder or schizophrenia | 2.000000e-11 |
| GCST004521_23 | Autism spectrum disorder or schizophrenia | 2.000000e-11 |
| GCST004521_6 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_73 | Autism spectrum disorder or schizophrenia | 8.000000e-11 |
| GCST004521_77 | Autism spectrum disorder or schizophrenia | 1.000000e-19 |
| GCST004602_49 | Mean corpuscular volume | 2.000000e-21 |
| GCST007327_58 | Smoking status (ever vs never smokers) | 3.000000e-08 |
| GCST008921_6 | Asthma and major depressive disorder | 1.000000e-09 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
| GCST90011898_139 | Alanine aminotransferase levels | 3.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004318 | smoking behavior |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Cisplatin | decreases expression, affects response to substance | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| kojic acid | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Urethane | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_GZ98 | K562 eGFP-ZKSCAN8 | Cancer 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.