TEN1
gene geneOn this page
Also known as FLJ39785
Summary
TEN1 (TEN1 subunit of CST complex, HGNC:37242) is a protein-coding gene on chromosome 17q25.1, encoding CST complex subunit TEN1 (Q86WV5). Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. It is a selective cancer dependency (DepMap: 57.0% of cell lines).
C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).
Source: NCBI Gene 100134934 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 3 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 57.0% of screened cell lines
- MANE Select transcript:
NM_001113324
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:37242 |
| Approved symbol | TEN1 |
| Name | TEN1 subunit of CST complex |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39785 |
| Ensembl gene | ENSG00000257949 |
| Ensembl biotype | protein_coding |
| OMIM | 613130 |
| Entrez | 100134934 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 11 protein_coding, 1 retained_intron
ENST00000397640, ENST00000585710, ENST00000586891, ENST00000588202, ENST00000590676, ENST00000911175, ENST00000911176, ENST00000911177, ENST00000940414, ENST00000940415, ENST00000957727, ENST00000957728
RefSeq mRNA: 1 — MANE Select: NM_001113324
NM_001113324
CCDS: CCDS45780
Canonical transcript exons
ENST00000397640 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001404122 | 75979240 | 75979511 |
| ENSE00001529499 | 76000141 | 76000586 |
| ENSE00003507766 | 75991466 | 75991623 |
| ENSE00003605036 | 75986187 | 75986284 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 93.08.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0086 / max 30.1615, expressed in 454 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162812 | 13.7589 | 1813 |
| 162813 | 0.9583 | 416 |
| 162814 | 0.0504 | 11 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 93.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.73 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.68 | gold quality |
| skin of leg | UBERON:0001511 | 91.48 | gold quality |
| zone of skin | UBERON:0000014 | 91.41 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.12 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.76 | gold quality |
| apex of heart | UBERON:0002098 | 90.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.21 | gold quality |
| body of pancreas | UBERON:0001150 | 88.47 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.47 | gold quality |
| body of stomach | UBERON:0001161 | 88.07 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.03 | gold quality |
| granulocyte | CL:0000094 | 87.97 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.82 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.77 | gold quality |
| duodenum | UBERON:0002114 | 87.77 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 87.67 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.66 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.30 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.16 | gold quality |
| liver | UBERON:0002107 | 87.13 | gold quality |
| monocyte | CL:0000576 | 87.01 | gold quality |
| leukocyte | CL:0000738 | 86.76 | gold quality |
| vagina | UBERON:0000996 | 86.55 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.54 | gold quality |
| cortex of kidney | UBERON:0001225 | 86.53 | gold quality |
| pituitary gland | UBERON:0000007 | 86.47 | gold quality |
| prostate gland | UBERON:0002367 | 86.47 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 86.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
8 targeting TEN1, 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-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-4733-5P | 97.75 | 67.44 | 866 |
| HSA-MIR-3665 | 97.73 | 65.08 | 975 |
| HSA-MIR-6783-5P | 97.67 | 67.21 | 1528 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 57.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 21)
- Ctc1-Stn1-Ten1 is a replication protein A (RPA)-like complex that is not directly involved in conventional DNA replication at forks but plays a role in DNA metabolism frequently required by telomeres. (PMID:19854130)
- the human CST (CTC1, STN1 and TEN1) complex, previously implicated in telomere protection and DNA metabolism, inhibits telomerase activity through primer sequestration and physical interaction with the protection of telomeres 1 (POT1)-TPP1 telomerase processivity factor (PMID:22763445)
- data indicate that hTen1 is critical for the telomeric function of hCST, both in telomere protection and downregulation of telomerase function (PMID:23826127)
- The mammalian CST (CTC1-STN1-TEN1) complex is directly involved at several stages of telomere end formation and CST seems to play critical roles in coordinating telomerase elongation and fill-in synthesis to complete telomere replication. (PMID:23851344)
- TEN1 likely functions in conjunction with CTC1 and STN1 at the telomere and elsewhere in the genome. (PMID:24025336)
- reveal a critical role for human Stn1 in telomere length maintenance and function, supporting the model that efficient replication of telomeric repeats is critical for long-term viability of normal somatic mammalian cells (PMID:25684230)
- CTC1/STN1/TEN1 (CST) deficiency diminishes HU-induced RAD51 foci formation. (PMID:27487043)
- TERT-mediated G-strand extension and Ctc1-Stn1-Ten1-mediated C-strand fill-in are equally important for telomere length maintenance. (PMID:28334750)
- The findings imply that theCTC1/STN1/TEN1 complex(CST )complex plays an important role in regulating telomere maintenance in alternative-lengthening of telomeres(ALT) cells. (PMID:28366536)
- Studies indicate telomere-binding proteins CTC1-STN1-TEN1 (CST) dysfunction and mutation is associated with several genetic diseases and cancers [Review]. (PMID:29293451)
- CTC1-STN1 terminates TERT while STN1-TEN1 enables C-strand synthesis during telomere replication in colon cancer cells. (PMID:30026550)
- The CST complex (CTC1-STN1-TEN1) maintains genome integrity through resolution of G4 structures both ahead of the replication fork and on the lagging strand template (PMID:30976812)
- CST functions in two distinct aspects of genome-wide DNA replication, namely, origin licensing and replisome assembly. CST interacts with additional replisome components, MCM and AND-1. (PMID:30979824)
- This work provides a blueprint to pinpoint the possible consequences of pathogenic mutations in the CST complex subunit TEN1. (PMID:31028137)
- An Indian child with Coats plus syndrome due to mutations in STN1. (PMID:32627942)
- Human CST complex protects stalled replication forks by directly blocking MRE11 degradation of nascent-strand DNA. (PMID:33210317)
- CST in maintaining genome stability: Beyond telomeres. (PMID:33780718)
- Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology. (PMID:35134616)
- Structures of the human CST-Polalpha-primase complex bound to telomere templates. (PMID:35830881)
- Reconstitution of a telomeric replicon organized by CST. (PMID:35831508)
- CST-polymerase alpha-primase solves a second telomere end-replication problem. (PMID:38418884)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ten1 | ENSDARG00000097346 |
| mus_musculus | Ten1 | ENSMUSG00000020778 |
| rattus_norvegicus | Ten1 | ENSRNOG00000060307 |
Protein
Protein identifiers
CST complex subunit TEN1 — Q86WV5 (reviewed: Q86WV5)
Alternative names: Protein telomeric pathways with STN1 homolog, Telomere length regulation protein TEN1 homolog
All UniProt accessions (4): Q86WV5, K7EIL0, K7EJS2, K7EL09
UniProt curated annotations — full annotation on UniProt →
Function. Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3’ overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha. The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins.
Subunit / interactions. Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1; in the complex interacts directly with STN1.
Subcellular location. Nucleus. Chromosome. Telomere.
Similarity. Belongs to the TEN1 family.
RefSeq proteins (1): NP_001106795* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR029146 | Ten1_animal_plant | Family |
Pfam: PF15490
UniProt features (15 total): strand 6, helix 3, mutagenesis site 2, chain 1, DNA-binding region 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4JOI | X-RAY DIFFRACTION | 2.05 |
| 6W6W | ELECTRON MICROSCOPY | 3 |
| 8D0B | ELECTRON MICROSCOPY | 3.43 |
| 8SOJ | ELECTRON MICROSCOPY | 3.8 |
| 8SOK | ELECTRON MICROSCOPY | 4.1 |
| 8D0K | ELECTRON MICROSCOPY | 4.27 |
| 7U5C | ELECTRON MICROSCOPY | 4.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86WV5-F1 | 93.75 | 0.89 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 115 | 2.5-fold reduction in binding affinity for stn1. |
| 119 | 2-fold reduction in binding affinity for stn1. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-174411 | Polymerase switching on the C-strand of the telomere |
| R-HSA-174430 | Telomere C-strand synthesis initiation |
| R-HSA-157579 | Telomere Maintenance |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-174417 | Telomere C-strand (Lagging Strand) Synthesis |
| R-HSA-180786 | Extension of Telomeres |
| R-HSA-73886 | Chromosome Maintenance |
MSigDB gene sets: 98 (showing top):
GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERASE, GOBP_TELOMERE_CAPPING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_TELOMERE_ORGANIZATION, CHANDRAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_NEGATIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION, GOBP_DNA_BIOSYNTHETIC_PROCESS, REACTOME_EXTENSION_OF_TELOMERES
GO Biological Process (2): telomere capping (GO:0016233), negative regulation of telomere maintenance via telomerase (GO:0032211)
GO Molecular Function (5): single-stranded DNA binding (GO:0003697), telomerase inhibitor activity (GO:0010521), telomeric repeat DNA binding (GO:0042162), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (5): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), CST complex (GO:1990879), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Telomere C-strand (Lagging Strand) Synthesis | 2 |
| Chromosome Maintenance | 1 |
| Extension of Telomeres | 1 |
| Telomere Maintenance | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| telomere maintenance | 1 |
| telomere maintenance via telomerase | 1 |
| regulation of telomere maintenance via telomerase | 1 |
| negative regulation of telomere maintenance via telomere lengthening | 1 |
| negative regulation of DNA biosynthetic process | 1 |
| DNA binding | 1 |
| telomerase activity | 1 |
| enzyme inhibitor activity | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosomal region | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear telomere cap complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
286 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TEN1 | CTC1 | Q2NKJ3 | 994 |
| TEN1 | STN1 | Q9H668 | 986 |
| TEN1 | ANKRD10 | Q9NXR5 | 545 |
| TEN1 | RIF1 | Q5UIP0 | 509 |
| TEN1 | SHLD2 | Q86V20 | 493 |
| TEN1 | C1orf226 | A1L170 | 475 |
| TEN1 | SHLD3 | Q6ZNX1 | 455 |
| TEN1 | SHLD1 | Q8IYI0 | 419 |
| TEN1 | TINF2 | Q9BSI4 | 379 |
| TEN1 | CDYL2 | Q8N8U2 | 353 |
| TEN1 | DHRS1 | Q96LJ7 | 351 |
| TEN1 | DDX47 | Q9H0S4 | 349 |
| TEN1 | SNRNP25 | Q9BV90 | 348 |
| TEN1 | ACD | Q96AP0 | 348 |
| TEN1 | MGRN1 | O60291 | 347 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TEN1 | STN1 | psi-mi:“MI:0915”(physical association) | 0.910 |
| STN1 | TEN1 | psi-mi:“MI:0915”(physical association) | 0.910 |
| TEN1 | CTC1 | psi-mi:“MI:0915”(physical association) | 0.860 |
| CTC1 | TEN1 | psi-mi:“MI:0915”(physical association) | 0.860 |
| TEN1 | CTC1 | psi-mi:“MI:0914”(association) | 0.860 |
| CTC1 | TEN1 | psi-mi:“MI:0914”(association) | 0.860 |
| TEN1 | CASP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRIN2C | TEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | PRPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | PRPS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | RAN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TEN1 | BAG6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | TEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | NUP58 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | KIF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | HTRA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEN1 | PRPF40A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (18): TEN1 (Affinity Capture-MS), TEN1 (Affinity Capture-MS), CTC1 (Affinity Capture-MS), TEN1 (Two-hybrid), TEN1 (Affinity Capture-RNA), CTC1 (Affinity Capture-MS), TPR (Affinity Capture-MS), TEN1 (Affinity Capture-MS), YTHDC2 (Affinity Capture-MS), TEN1 (Co-fractionation), TEN1 (Co-fractionation), TEN1 (Co-fractionation), TEN1 (Co-fractionation), TEN1 (Co-fractionation), TEN1 (Affinity Capture-Western)
ESM2 similar proteins: A0JNQ6, A2RT67, A2RUS2, A6NC42, A6NGQ2, A9X185, O75031, O75817, O94955, O95267, P50747, Q06VW1, Q0II25, Q0ZFW8, Q1RMS8, Q1RMZ1, Q29108, Q2TBA3, Q3T0J1, Q3TYS2, Q4VX76, Q568D5, Q568M3, Q587J7, Q5JSQ8, Q5T9G4, Q5ZLS2, Q62522, Q69ZK0, Q6AYA6, Q6P5G6, Q7Z7H3, Q80X86, Q86WV5, Q8BXK4, Q8C0Q9, Q8CHQ0, Q8TCU6, Q8WUE5, Q91Z62
Diamond homologs: Q86WV5, Q9D7K2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TEN1 | “form complex” | “CST complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3243044 | NC_000017.10:g.(?73974677)(73976617_?)del | Pathogenic |
SpliceAI
531 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:75991460:TTCCA:T | acceptor_loss | 1.0000 |
| 17:75991461:TCCA:T | acceptor_loss | 1.0000 |
| 17:75991463:CA:C | acceptor_loss | 1.0000 |
| 17:75991465:G:GA | acceptor_loss | 1.0000 |
| 17:75991619:GCAGG:G | donor_gain | 1.0000 |
| 17:75991622:GG:G | donor_gain | 1.0000 |
| 17:75991623:GG:G | donor_gain | 1.0000 |
| 17:75979508:ACAGG:A | donor_loss | 0.9900 |
| 17:75979509:CAGG:C | donor_loss | 0.9900 |
| 17:75979510:AGGTT:A | donor_loss | 0.9900 |
| 17:75991464:A:AG | acceptor_gain | 0.9900 |
| 17:75991465:G:GG | acceptor_gain | 0.9900 |
| 17:75991465:GGT:G | acceptor_gain | 0.9900 |
| 17:75991465:GGTT:G | acceptor_gain | 0.9900 |
| 17:75991621:AGG:A | donor_loss | 0.9900 |
| 17:75991624:G:GG | donor_gain | 0.9900 |
| 17:75991625:T:G | donor_loss | 0.9900 |
| 17:76000139:A:AG | acceptor_gain | 0.9900 |
| 17:76000140:G:GG | acceptor_gain | 0.9900 |
| 17:75986183:ACAG:A | acceptor_loss | 0.9800 |
| 17:75986184:C:G | acceptor_loss | 0.9800 |
| 17:75986185:A:T | acceptor_loss | 0.9800 |
| 17:75991464:AG:A | acceptor_gain | 0.9800 |
| 17:75991464:AGGTT:A | acceptor_gain | 0.9800 |
| 17:75991465:GG:G | acceptor_gain | 0.9800 |
| 17:75991465:GGTTG:G | acceptor_gain | 0.9800 |
| 17:76000140:GAC:G | acceptor_gain | 0.9800 |
| 17:76000140:GACA:G | acceptor_gain | 0.9800 |
| 17:75986132:A:AG | acceptor_gain | 0.9700 |
| 17:75986133:G:GG | acceptor_gain | 0.9700 |
AlphaMissense
794 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:75986281:G:A | G30D | 0.977 |
| 17:75991597:T:A | V75D | 0.971 |
| 17:75991602:G:T | G77W | 0.971 |
| 17:75986273:A:C | R27S | 0.968 |
| 17:75986273:A:T | R27S | 0.968 |
| 17:75986280:G:C | G30R | 0.967 |
| 17:75991543:T:A | V57D | 0.963 |
| 17:75986281:G:T | G30V | 0.961 |
| 17:75991549:C:T | T59I | 0.961 |
| 17:75991602:G:A | G77R | 0.960 |
| 17:75991602:G:C | G77R | 0.960 |
| 17:75991603:G:T | G77V | 0.959 |
| 17:75991603:G:A | G77E | 0.958 |
| 17:75991590:T:G | Y73D | 0.949 |
| 17:75991504:T:A | L44Q | 0.948 |
| 17:75986229:T:A | W13R | 0.944 |
| 17:75986229:T:C | W13R | 0.944 |
| 17:75986275:C:A | T28K | 0.943 |
| 17:75986277:T:C | F29L | 0.943 |
| 17:75986279:T:A | F29L | 0.943 |
| 17:75986279:T:G | F29L | 0.943 |
| 17:75991468:T:C | L32S | 0.941 |
| 17:75986272:G:C | R27T | 0.936 |
| 17:76000162:C:A | A91E | 0.936 |
| 17:76000204:T:C | L105S | 0.933 |
| 17:76000212:G:C | A108P | 0.931 |
| 17:75991504:T:G | L44R | 0.929 |
| 17:75986231:G:C | W13C | 0.925 |
| 17:75986231:G:T | W13C | 0.925 |
| 17:76000165:G:C | R92P | 0.921 |
dbSNP variants (sampled 300 via entrez): RS1000059064 (17:75977297 G>A,C), RS1000082215 (17:75984173 G>A,C), RS1000606997 (17:76000518 C>A,T), RS1000672697 (17:75988618 A>C,G), RS1000721935 (17:75994905 G>A), RS1000735619 (17:75990693 G>A,T), RS1000768201 (17:75996147 T>C), RS1000799225 (17:75995880 C>A,T), RS1001041525 (17:75988913 G>T), RS1001069172 (17:75989049 G>A), RS1001081127 (17:75982585 CTTTGT>C,CTTTGTTTTGT), RS1001135066 (17:75982277 T>G), RS1001280873 (17:75995993 G>A), RS1001290573 (17:75995723 A>G), RS1001353626 (17:75988794 C>T)
Disease associations
OMIM: gene MIM:613130 | disease phenotypes: MIM:264470
GenCC curated gene-disease
Mondo (1): peroxisomal acyl-CoA oxidase deficiency (MONDO:0009919)
Orphanet (1): Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010107_21 | L-selectin levels | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008202 | L-Selectin measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536662 | Peroxisomal ACYL-COA oxidase deficiency (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression | 2 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Cosmetics | affects cotreatment, increases expression | 1 |
| Flame Retardants | increases expression, affects cotreatment | 1 |
| Plasticizers | increases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Phytoestrogens | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01668186 | Not specified | RECRUITING | Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): peroxisomal acyl-CoA oxidase deficiency