PRAMEF1
gene geneOn this page
Summary
PRAMEF1 (PRAME family member 1, HGNC:28840) is a protein-coding gene on chromosome 1p36.21, encoding PRAME family member 1 (O95521).
This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms.
Source: NCBI Gene 65121 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 106 total
- MANE Select transcript:
NM_023013
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28840 |
| Approved symbol | PRAMEF1 |
| Name | PRAME family member 1 |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000116721 |
| Ensembl biotype | protein_coding |
| Entrez | 65121 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000332296, ENST00000400814
RefSeq mRNA: 2 — MANE Select: NM_023013
NM_001294139, NM_023013
CCDS: CCDS148
Canonical transcript exons
ENST00000332296 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001603606 | 12795438 | 12796628 |
| ENSE00001642992 | 12791397 | 12791474 |
| ENSE00001700265 | 12793203 | 12793514 |
| ENSE00001723465 | 12793915 | 12794493 |
Expression profiles
Bgee: expression breadth tissue_specific, 4 present calls, max score 37.89.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0027 / max 1.2715, expressed in 2 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 752 | 0.0027 | 2 |
Top tissues by expression
130 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 37.89 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| testis | UBERON:0000473 | 36.83 | 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 |
| left testis | UBERON:0004533 | 35.96 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| muscle tissue | UBERON:0002385 | 32.26 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| monocyte | CL:0000576 | 31.69 | gold quality |
| leukocyte | CL:0000738 | 31.32 | gold quality |
| liver | UBERON:0002107 | 31.03 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.21 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 27.87 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| right lobe of liver | UBERON:0001114 | 27.36 | gold quality |
| uterine cervix | UBERON:0000002 | 27.21 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| blood | UBERON:0000178 | 26.77 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| endocervix | UBERON:0000458 | 26.40 | gold quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 25.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting PRAMEF1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4735-5P | 99.43 | 68.49 | 1780 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-1304-3P | 98.29 | 66.44 | 1207 |
| HSA-MIR-495-5P | 97.62 | 68.28 | 682 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-708-3P | 97.50 | 68.67 | 1082 |
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): PRAMEF12 (ENSG00000116726), PRAMEF2 (ENSG00000120952), LRRC14 (ENSG00000160959), PRAMEF8 (ENSG00000182330), LRRC14B (ENSG00000185028), PRAME (ENSG00000185686), PRAMEF10 (ENSG00000187545), PRAMEF20 (ENSG00000204478), PRAMEF17 (ENSG00000204479), PRAMEF19 (ENSG00000204480), PRAMEF14 (ENSG00000204481), PRAMEF15 (ENSG00000204501), 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 1 — O95521 (reviewed: O95521)
All UniProt accessions (1): O95521
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the PRAME family.
RefSeq proteins (1): NP_075389* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026271 | PRAME | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050694 | LRRC14/PRAME | Family |
UniProt features (17 total): repeat 9, sequence variant 7, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95521-F1 | 81.90 | 0.46 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 39 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, 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, DAZARD_RESPONSE_TO_UV_NHEK_UP, GOBP_POSITIVE_REGULATION_OF_CELL_POPULATION_PROLIFERATION, PURBEY_TARGETS_OF_CTBP1_AND_SATB1_DN, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOCC_CUL2_RING_UBIQUITIN_LIGASE_COMPLEX
GO Biological Process (5): 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)
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 |
| enzyme-substrate adaptor activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
2179 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRAMEF1 | TRIM43 | Q96BQ3 | 692 |
| PRAMEF1 | ZSCAN4 | Q8NAM6 | 660 |
| PRAMEF1 | MBD3L2 | Q8NHZ7 | 656 |
| PRAMEF1 | LEUTX | A8MZ59 | 623 |
| PRAMEF1 | KHDC1 | Q4VXA5 | 621 |
| PRAMEF1 | KHDC1L | Q5JSQ8 | 605 |
| PRAMEF1 | RFPL2 | O75678 | 602 |
| PRAMEF1 | DUX4L2 | P0CJ85 | 580 |
| PRAMEF1 | RFPL1 | O75677 | 531 |
| PRAMEF1 | TRIM48 | Q8IWZ4 | 480 |
| PRAMEF1 | TRIM51 | Q9BSJ1 | 474 |
| PRAMEF1 | RFPL4B | Q6ZWI9 | 448 |
| PRAMEF1 | OR5H6 | Q8NGV6 | 432 |
| PRAMEF1 | FAM131C | Q96AQ9 | 418 |
| PRAMEF1 | MBD3L3 | A6NE82 | 413 |
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, Q640Z9, P59047, Q7TSF4, Q8NAA5, Q8VC16
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
443 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:12793511:CCAG:C | donor_loss | 1.0000 |
| 1:12793512:CAG:C | donor_loss | 1.0000 |
| 1:12793513:AG:A | donor_loss | 1.0000 |
| 1:12793514:GG:G | donor_loss | 1.0000 |
| 1:12793515:G:A | donor_loss | 1.0000 |
| 1:12793516:T:G | donor_loss | 1.0000 |
| 1:12795433:CACA:C | acceptor_loss | 1.0000 |
| 1:12795435:CA:C | acceptor_loss | 1.0000 |
| 1:12795436:A:AC | acceptor_loss | 1.0000 |
| 1:12795437:G:A | acceptor_loss | 1.0000 |
| 1:12791471:GCTG:G | donor_gain | 0.9900 |
| 1:12791472:CTGG:C | donor_loss | 0.9900 |
| 1:12791474:GGTA:G | donor_loss | 0.9900 |
| 1:12791475:G:A | donor_loss | 0.9900 |
| 1:12791475:G:GG | donor_gain | 0.9900 |
| 1:12791476:TAAG:T | donor_loss | 0.9900 |
| 1:12793201:A:AG | acceptor_gain | 0.9900 |
| 1:12793202:G:GG | acceptor_gain | 0.9900 |
| 1:12793202:GA:G | acceptor_gain | 0.9900 |
| 1:12793202:GAGAT:G | acceptor_gain | 0.9900 |
| 1:12793474:G:GT | donor_gain | 0.9900 |
| 1:12793515:G:GG | donor_gain | 0.9900 |
| 1:12795436:A:AG | acceptor_gain | 0.9900 |
| 1:12795437:G:GG | acceptor_gain | 0.9900 |
| 1:12795437:GGT:G | acceptor_gain | 0.9900 |
| 1:12791472:CTG:C | donor_gain | 0.9800 |
| 1:12793197:TTCTA:T | acceptor_loss | 0.9800 |
| 1:12793198:TCTA:T | acceptor_loss | 0.9800 |
| 1:12793200:TA:T | acceptor_loss | 0.9800 |
| 1:12793201:A:AC | acceptor_loss | 0.9800 |
AlphaMissense
3094 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:12793402:T:A | W59R | 0.931 |
| 1:12793402:T:C | W59R | 0.931 |
| 1:12793408:T:C | F61L | 0.925 |
| 1:12793410:C:A | F61L | 0.925 |
| 1:12793410:C:G | F61L | 0.925 |
| 1:12793357:T:C | F44L | 0.897 |
| 1:12793359:C:A | F44L | 0.897 |
| 1:12793359:C:G | F44L | 0.897 |
| 1:12795922:T:C | F451L | 0.876 |
| 1:12795924:C:A | F451L | 0.876 |
| 1:12795924:C:G | F451L | 0.876 |
| 1:12794135:T:A | W170R | 0.873 |
| 1:12794135:T:C | W170R | 0.873 |
| 1:12793345:T:C | F40L | 0.872 |
| 1:12793347:C:A | F40L | 0.872 |
| 1:12793347:C:G | F40L | 0.872 |
| 1:12794256:T:C | L210P | 0.869 |
| 1:12794137:G:C | W170C | 0.864 |
| 1:12794137:G:T | W170C | 0.864 |
| 1:12795823:A:C | S418R | 0.864 |
| 1:12795825:T:A | S418R | 0.864 |
| 1:12795825:T:G | S418R | 0.864 |
| 1:12793926:T:A | L100H | 0.863 |
| 1:12795801:G:C | E410D | 0.850 |
| 1:12795801:G:T | E410D | 0.850 |
| 1:12795470:T:C | L300S | 0.845 |
| 1:12794320:G:A | M231I | 0.839 |
| 1:12794320:G:C | M231I | 0.839 |
| 1:12794320:G:T | M231I | 0.839 |
| 1:12795721:T:C | F384L | 0.837 |
dbSNP variants (sampled 300 via entrez): RS1000459559 (1:12792001 A>G), RS1001098281 (1:12791833 A>G), RS1001177669 (1:12790175 C>A), RS1001676247 (1:12793046 T>C,G), RS1001982536 (1:12790924 A>G), RS1002774680 (1:12796867 T>G), RS1003477226 (1:12797076 G>A,C), RS1003701313 (1:12789689 G>A), RS1005059846 (1:12792649 T>C), RS1006784428 (1:12789843 T>A,C), RS1007485065 (1:12790108 C>T), RS1008372924 (1:12796390 C>A,T), RS1008745529 (1:12794851 A>G), RS1008887254 (1:12796508 A>G,T), RS1009245199 (1:12791766 T>C)
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
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002937_14 | Molybdenum levels | 7.000000e-06 |
| GCST008158_26 | Body mass index | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
6 total (human), top 6 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Hydrogen Peroxide | increases 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.