PRAMEF15
gene geneOn this page
Also known as OTTHUMG00000007921
Summary
PRAMEF15 (PRAME family member 15, HGNC:26764) is a protein-coding gene on chromosome 1p36.21, encoding PRAME family member 15 (P0DUQ1).
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Is active in Cul2-RING ubiquitin ligase complex.
Source: NCBI Gene 653619 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 5 total
- MANE Select transcript:
NM_001098376
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26764 |
| Approved symbol | PRAMEF15 |
| Name | PRAME family member 15 |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OTTHUMG00000007921 |
| Ensembl gene | ENSG00000204501 |
| Ensembl biotype | protein_coding |
| Entrez | 653619 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000376152
RefSeq mRNA: 1 — MANE Select: NM_001098376
NM_001098376
CCDS: CCDS44059
Canonical transcript exons
ENST00000376152 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001698421 | 13319372 | 13319953 |
| ENSE00001755555 | 13318392 | 13318700 |
| ENSE00001796525 | 13315581 | 13315658 |
| ENSE00003745950 | 13321703 | 13322598 |
Expression profiles
Bgee: expression breadth tissue_specific, 6 present calls, max score 92.01.
Top tissues by expression
120 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.01 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| granulocyte | CL:0000094 | 35.21 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| liver | UBERON:0002107 | 33.09 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.18 | gold quality |
| ectocervix | UBERON:0012249 | 28.60 | silver quality |
| right lobe of liver | UBERON:0001114 | 28.59 | silver quality |
| tonsil | UBERON:0002372 | 28.59 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| leukocyte | CL:0000738 | 27.78 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| cortex of kidney | UBERON:0001225 | 27.48 | gold quality |
| monocyte | CL:0000576 | 27.24 | gold quality |
| blood | UBERON:0000178 | 26.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| fundus of stomach | UBERON:0001160 | 26.09 | silver quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 25.89 | gold quality |
| placenta | UBERON:0001987 | 25.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting PRAMEF15, 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-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-5581-3P | 98.55 | 70.31 | 1161 |
| HSA-MIR-1265 | 98.36 | 66.46 | 598 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-4305 | 97.94 | 68.63 | 533 |
| HSA-MIR-4469 | 97.93 | 65.81 | 1319 |
| HSA-MIR-4700-3P | 97.74 | 68.64 | 1014 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
| HSA-MIR-630 | 97.50 | 66.38 | 921 |
| HSA-MIR-7106-3P | 97.33 | 65.33 | 644 |
| HSA-MIR-6777-3P | 95.35 | 64.30 | 699 |
Cross-species orthologs
125 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch73-174h16.4 | ENSDARG00000036493 |
| mus_musculus | Pramel6 | ENSMUSG00000025838 |
| mus_musculus | Pramel7 | ENSMUSG00000025839 |
| mus_musculus | Pramel13 | ENSMUSG00000028591 |
| mus_musculus | Pramel27 | ENSMUSG00000029451 |
| mus_musculus | Pramel17 | ENSMUSG00000035201 |
| mus_musculus | Pramel5 | ENSMUSG00000036749 |
| mus_musculus | Pramel18 | ENSMUSG00000037028 |
| mus_musculus | Pramel32 | ENSMUSG00000038330 |
| mus_musculus | Pramel1 | ENSMUSG00000041805 |
| mus_musculus | C130073F10Rik | ENSMUSG00000046133 |
| mus_musculus | Pramel29 | ENSMUSG00000046262 |
| mus_musculus | Pramel24 | ENSMUSG00000046435 |
| mus_musculus | Pramel12 | ENSMUSG00000046862 |
| mus_musculus | Oog4 | ENSMUSG00000047799 |
| mus_musculus | Oog3 | ENSMUSG00000050810 |
| mus_musculus | Pramel26 | ENSMUSG00000059218 |
| mus_musculus | Pramel51 | ENSMUSG00000066027 |
| mus_musculus | Oog2 | ENSMUSG00000066030 |
| mus_musculus | Pramel25 | ENSMUSG00000066031 |
| mus_musculus | Pramel21 | ENSMUSG00000066688 |
| mus_musculus | Gm13040 | ENSMUSG00000070616 |
| mus_musculus | Pramel23 | ENSMUSG00000070617 |
| mus_musculus | Pramel20 | ENSMUSG00000070618 |
| mus_musculus | Pramel31 | ENSMUSG00000070619 |
| mus_musculus | Pramel48 | ENSMUSG00000070677 |
| mus_musculus | Pramel34 | ENSMUSG00000070686 |
| mus_musculus | Pramel19 | ENSMUSG00000070890 |
| mus_musculus | Pramel55 | ENSMUSG00000072813 |
| mus_musculus | Pramel54 | ENSMUSG00000072814 |
| mus_musculus | Pramel53 | ENSMUSG00000072821 |
| mus_musculus | Pramel37 | ENSMUSG00000072822 |
| mus_musculus | Pramel15 | ENSMUSG00000073721 |
| mus_musculus | Pramel61 | ENSMUSG00000073723 |
| mus_musculus | Pramel4 | ENSMUSG00000073724 |
| mus_musculus | Pramel41 | ENSMUSG00000074011 |
| ENSMUSG00000074720 | ||
| mus_musculus | Pramel30 | ENSMUSG00000078508 |
| mus_musculus | Pramel14 | ENSMUSG00000078509 |
| mus_musculus | Pramel28 | ENSMUSG00000078510 |
| mus_musculus | Pramel16 | ENSMUSG00000078511 |
| mus_musculus | Pramel11 | ENSMUSG00000078512 |
| mus_musculus | Pramel22 | ENSMUSG00000078513 |
| mus_musculus | Prame62 | ENSMUSG00000078625 |
| mus_musculus | Gm12790 | ENSMUSG00000078626 |
| mus_musculus | Pramel57 | ENSMUSG00000079423 |
| mus_musculus | Pramel47 | ENSMUSG00000079424 |
| ENSMUSG00000091585 | ||
| mus_musculus | Pramel45 | ENSMUSG00000092166 |
| mus_musculus | Pramel49 | ENSMUSG00000094043 |
| ENSMUSG00000094172 | ||
| mus_musculus | Pramel44 | ENSMUSG00000094195 |
| ENSMUSG00000094303 | ||
| ENSMUSG00000094337 | ||
| ENSMUSG00000094383 | ||
| ENSMUSG00000094474 | ||
| ENSMUSG00000094722 | ||
| ENSMUSG00000094741 | ||
| ENSMUSG00000094791 | ||
| ENSMUSG00000094836 | ||
| ENSMUSG00000094855 | ||
| ENSMUSG00000094887 | ||
| mus_musculus | Pramel42 | ENSMUSG00000095074 |
| mus_musculus | Gm13043 | ENSMUSG00000095409 |
| ENSMUSG00000095475 | ||
| mus_musculus | Pramel43 | ENSMUSG00000095503 |
| ENSMUSG00000095505 | ||
| ENSMUSG00000095523 | ||
| ENSMUSG00000095570 | ||
| ENSMUSG00000095666 | ||
| mus_musculus | Pramel40 | ENSMUSG00000095718 |
| ENSMUSG00000095763 | ||
| mus_musculus | Pramel56 | ENSMUSG00000095954 |
| mus_musculus | Pramel60 | ENSMUSG00000095996 |
| mus_musculus | Pramel33 | ENSMUSG00000096044 |
| mus_musculus | Pramel46 | ENSMUSG00000096066 |
| mus_musculus | Pramel50 | ENSMUSG00000096139 |
| mus_musculus | Gm13057 | ENSMUSG00000096154 |
| mus_musculus | Pramel36 | ENSMUSG00000096230 |
| ENSMUSG00000096236 | ||
| mus_musculus | Pramel38 | ENSMUSG00000096259 |
| mus_musculus | Gm2042 | ENSMUSG00000096276 |
| ENSMUSG00000096550 | ||
| mus_musculus | Oog1 | ENSMUSG00000096576 |
| ENSMUSG00000096680 | ||
| ENSMUSG00000096728 | ||
| ENSMUSG00000096756 | ||
| mus_musculus | Pramel35 | ENSMUSG00000107392 |
| rattus_norvegicus | Pramel6 | ENSRNOG00000021920 |
| rattus_norvegicus | Pramel7 | ENSRNOG00000021949 |
| rattus_norvegicus | Pramef25 | ENSRNOG00000027000 |
| rattus_norvegicus | Oog3 | ENSRNOG00000027142 |
| rattus_norvegicus | Pramef8 | ENSRNOG00000027278 |
| rattus_norvegicus | Pramef27 | ENSRNOG00000027328 |
| rattus_norvegicus | Oog1 | ENSRNOG00000033000 |
| rattus_norvegicus | Pramef12 | ENSRNOG00000037035 |
| rattus_norvegicus | Oog3l1 | ENSRNOG00000037039 |
| rattus_norvegicus | Pramef17 | ENSRNOG00000042820 |
| rattus_norvegicus | Pramel36 | ENSRNOG00000043130 |
| rattus_norvegicus | Oog3l2 | ENSRNOG00000045614 |
| rattus_norvegicus | Pramel36l1 | ENSRNOG00000046931 |
| rattus_norvegicus | LOC120103107 | ENSRNOG00000047341 |
| rattus_norvegicus | Pramef20 | ENSRNOG00000053942 |
| rattus_norvegicus | LOC134481896 | ENSRNOG00000062749 |
| rattus_norvegicus | Pramel53l1 | ENSRNOG00000063444 |
| rattus_norvegicus | LOC120096511 | ENSRNOG00000063633 |
| rattus_norvegicus | Pramel36l1 | ENSRNOG00000064574 |
| rattus_norvegicus | Pramef20l1 | ENSRNOG00000065680 |
| rattus_norvegicus | ENSRNOG00000065869 | |
| rattus_norvegicus | LOC134481897 | ENSRNOG00000067003 |
| rattus_norvegicus | Pramef8l2 | ENSRNOG00000067042 |
| rattus_norvegicus | Pramel34 | ENSRNOG00000067111 |
| rattus_norvegicus | Pramef5 | ENSRNOG00000067307 |
| rattus_norvegicus | Pramef20-ps1 | ENSRNOG00000067899 |
| rattus_norvegicus | ENSRNOG00000071611 | |
| rattus_norvegicus | ENSRNOG00000072535 | |
| rattus_norvegicus | ENSRNOG00000073402 | |
| rattus_norvegicus | ENSRNOG00000073978 | |
| rattus_norvegicus | ENSRNOG00000075698 | |
| rattus_norvegicus | ENSRNOG00000077508 | |
| rattus_norvegicus | ENSRNOG00000083237 | |
| rattus_norvegicus | ENSRNOG00000084642 | |
| rattus_norvegicus | ENSRNOG00000086814 | |
| rattus_norvegicus | ENSRNOG00000088869 | |
| rattus_norvegicus | ENSRNOG00000089019 |
Paralogs (24): PRAMEF1 (ENSG00000116721), PRAMEF12 (ENSG00000116726), PRAMEF2 (ENSG00000120952), LRRC14 (ENSG00000160959), PRAMEF8 (ENSG00000182330), LRRC14B (ENSG00000185028), PRAME (ENSG00000185686), PRAMEF10 (ENSG00000187545), PRAMEF20 (ENSG00000204478), PRAMEF17 (ENSG00000204479), PRAMEF19 (ENSG00000204480), PRAMEF14 (ENSG00000204481), PRAMEF9 (ENSG00000204505), PRAMEF7 (ENSG00000204510), PRAMEF25 (ENSG00000229571), PRAMEF6 (ENSG00000232423), PRAMEF33 (ENSG00000237700), PRAMEF11 (ENSG00000239810), PRAMEF4 (ENSG00000243073), PRAMEF5 (ENSG00000270601), PRAMEF27 (ENSG00000274764), PRAMEF13 (ENSG00000279169), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)
Protein
Protein identifiers
PRAME family member 15 — P0DUQ1 (reviewed: P0DUQ1)
All UniProt accessions (2): P0DUQ1, P0DUQ2
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the PRAME family.
RefSeq proteins (1): NP_001091846* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026271 | PRAME | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050694 | LRRC14/PRAME | Family |
UniProt features (10 total): repeat 9, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0DUQ1-F1 | 84.55 | 0.54 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 29 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_UBIQUITIN_LIGASE_COMPLEX, chr1p36, GOBP_POSITIVE_REGULATION_OF_CELL_POPULATION_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOCC_CUL2_RING_UBIQUITIN_LIGASE_COMPLEX, MIR5581_3P, MIR6818_5P, MIR6777_3P
GO Biological Process (6): positive regulation of cell population proliferation (GO:0008284), negative regulation of apoptotic process (GO:0043066), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of cell differentiation (GO:0045596), negative regulation of DNA-templated transcription (GO:0045892), protein ubiquitination (GO:0016567)
GO Molecular Function (1): ubiquitin-like ligase-substrate adaptor activity (GO:1990756)
GO Cellular Component (2): cytoplasm (GO:0005737), Cul2-RING ubiquitin ligase complex (GO:0031462)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| cell differentiation | 1 |
| regulation of cell differentiation | 1 |
| negative regulation of cellular process | 1 |
| negative regulation of developmental process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| protein modification by small protein conjugation | 1 |
| enzyme-substrate adaptor activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
2185 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRAMEF15 | USP17L11 | C9JVI0 | 582 |
| PRAMEF15 | MBD3L3 | A6NE82 | 571 |
| PRAMEF15 | MBD3L2 | Q8NHZ7 | 570 |
| PRAMEF15 | LEUTX | A8MZ59 | 480 |
| PRAMEF15 | RFPL4B | Q6ZWI9 | 479 |
| PRAMEF15 | TRIM43B | A6NCK2 | 478 |
| PRAMEF15 | MSRB1 | Q9NZV6 | 454 |
| PRAMEF15 | ZSCAN4 | Q8NAM6 | 447 |
| PRAMEF15 | MBD3L5 | A6NJ08 | 447 |
| PRAMEF15 | RFPL2 | O75678 | 447 |
| PRAMEF15 | KHDC1L | Q5JSQ8 | 446 |
| PRAMEF15 | LRRIQ3 | A6PVS8 | 433 |
| PRAMEF15 | RFPL1 | O75677 | 431 |
| PRAMEF15 | TRIM49 | P0CI25 | 417 |
| PRAMEF15 | NBPF15 | Q8N660 | 399 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A0A0G2JMD5, A1Z198, A3QJZ6, A3QJZ7, A6NGN4, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q0GKD5, Q288C4, Q2LKU9, Q2LKV5, Q2LKW6, Q3TKR3, Q3UWY1, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q66X05, Q66X19
Diamond homologs: A0A0G2JMD5, A3QJZ6, A3QJZ7, A6NGN4, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q3UWY1, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q7TPX8, Q810Y8, Q99MW3, Q3UJB3, A5PJJ5, Q15048, Q569B5, A6NHZ5, Q1L8H0, Q640Z9, Q8VC16, P59047, Q7TSF4, Q8NAA5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
5 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
548 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:13319371:GGA:G | acceptor_gain | 1.0000 |
| 1:13315659:G:GG | donor_gain | 0.9900 |
| 1:13315659:GTAA:G | donor_loss | 0.9900 |
| 1:13315660:T:A | donor_loss | 0.9900 |
| 1:13318386:T:TA | acceptor_gain | 0.9900 |
| 1:13318387:G:A | acceptor_gain | 0.9900 |
| 1:13319369:CAG:C | acceptor_loss | 0.9900 |
| 1:13319370:A:AG | acceptor_gain | 0.9900 |
| 1:13319370:A:C | acceptor_loss | 0.9900 |
| 1:13319371:G:GG | acceptor_gain | 0.9900 |
| 1:13319952:AGGT:A | donor_loss | 0.9900 |
| 1:13319953:GG:G | donor_loss | 0.9900 |
| 1:13319955:T:A | donor_loss | 0.9900 |
| 1:13321701:A:AG | acceptor_gain | 0.9900 |
| 1:13321702:G:GG | acceptor_gain | 0.9900 |
| 1:13321702:GCT:G | acceptor_gain | 0.9900 |
| 1:13315654:ATCTG:A | donor_gain | 0.9800 |
| 1:13315655:TCTG:T | donor_gain | 0.9800 |
| 1:13318697:CCAG:C | donor_loss | 0.9800 |
| 1:13318699:AG:A | donor_loss | 0.9800 |
| 1:13318700:GG:G | donor_loss | 0.9800 |
| 1:13318701:G:GC | donor_loss | 0.9800 |
| 1:13319364:T:TA | acceptor_gain | 0.9800 |
| 1:13319368:ACAG:A | acceptor_gain | 0.9800 |
| 1:13319370:AG:A | acceptor_gain | 0.9800 |
| 1:13319370:AGGAG:A | acceptor_gain | 0.9800 |
| 1:13319371:GG:G | acceptor_gain | 0.9800 |
| 1:13319371:GGAGG:G | acceptor_gain | 0.9800 |
| 1:13321697:CCCCA:C | acceptor_loss | 0.9800 |
| 1:13321698:CCCAG:C | acceptor_loss | 0.9800 |
AlphaMissense
3152 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:13318588:T:A | W61R | 0.952 |
| 1:13318588:T:C | W61R | 0.952 |
| 1:13318594:T:C | F63L | 0.941 |
| 1:13318596:C:A | F63L | 0.941 |
| 1:13318596:C:G | F63L | 0.941 |
| 1:13322088:A:C | S421R | 0.926 |
| 1:13322090:T:A | S421R | 0.926 |
| 1:13322090:T:G | S421R | 0.926 |
| 1:13318519:T:C | F38L | 0.912 |
| 1:13318521:C:A | F38L | 0.912 |
| 1:13318521:C:G | F38L | 0.912 |
| 1:13319922:T:C | F282L | 0.908 |
| 1:13319924:C:A | F282L | 0.908 |
| 1:13319924:C:G | F282L | 0.908 |
| 1:13319754:T:C | F226L | 0.902 |
| 1:13319756:T:A | F226L | 0.902 |
| 1:13319756:T:G | F226L | 0.902 |
| 1:13321997:T:A | N390K | 0.901 |
| 1:13321997:T:G | N390K | 0.901 |
| 1:13321918:T:C | I364T | 0.894 |
| 1:13319418:T:C | F114L | 0.891 |
| 1:13319420:C:A | F114L | 0.891 |
| 1:13319420:C:G | F114L | 0.891 |
| 1:13319638:T:C | L187P | 0.884 |
| 1:13318543:T:C | F46L | 0.880 |
| 1:13318545:C:A | F46L | 0.880 |
| 1:13318545:C:G | F46L | 0.880 |
| 1:13321903:T:C | L359S | 0.879 |
| 1:13318590:G:C | W61C | 0.866 |
| 1:13318590:G:T | W61C | 0.866 |
dbSNP variants (sampled 300 via entrez): RS1000656688 (1:13316510 T>G), RS1000710294 (1:13314449 G>A), RS1004738023 (1:13322990 G>C,T), RS1014124351 (1:13323053 GGT>G), RS1015534531 (1:13319267 G>A,C,T), RS1015588160 (1:13318904 T>C), RS1017494565 (1:13314454 T>G), RS1025137195 (1:13323071 A>C), RS1030064867 (1:13314517 G>A), RS1030260170 (1:13317521 A>G), RS1033783614 (1:13319306 A>C), RS1034142104 (1:13323024 A>T), RS1038554826 (1:13314252 C>G,T), RS1038807430 (1:13319203 A>C,G), RS1039157900 (1:13322859 T>A)
Disease associations
OMIM: gene `` | 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
4 total (human), top 4 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
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.