LIN54
gene geneOn this page
Also known as MIP120DKFZp686L1814JC8.6CXCDC1TCX1
Summary
LIN54 (lin-54 DREAM MuvB core complex component, HGNC:25397) is a protein-coding gene on chromosome 4q21.22, encoding Protein lin-54 homolog (Q6MZP7). Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context. It is a selective cancer dependency (DepMap: 24.9% of cell lines).
LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).
Source: NCBI Gene 132660 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 70 total
- Cancer dependency (DepMap): dependent in 24.9% of screened cell lines
- MANE Select transcript:
NM_194282
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25397 |
| Approved symbol | LIN54 |
| Name | lin-54 DREAM MuvB core complex component |
| Location | 4q21.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MIP120, DKFZp686L1814, JC8.6, CXCDC1, TCX1 |
| Ensembl gene | ENSG00000189308 |
| Ensembl biotype | protein_coding |
| OMIM | 613367 |
| Entrez | 132660 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 20 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000340417, ENST00000442461, ENST00000446851, ENST00000505397, ENST00000505905, ENST00000506560, ENST00000508171, ENST00000509748, ENST00000510557, ENST00000510877, ENST00000857159, ENST00000857160, ENST00000857161, ENST00000857162, ENST00000857163, ENST00000857164, ENST00000924433, ENST00000924434, ENST00000924435, ENST00000924436, ENST00000969090, ENST00000969091, ENST00000969092, ENST00000969093
RefSeq mRNA: 5 — MANE Select: NM_194282
NM_001115007, NM_001115008, NM_001288996, NM_001288997, NM_194282
CCDS: CCDS3599, CCDS47089, CCDS75157
Canonical transcript exons
ENST00000340417 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001369618 | 83010484 | 83010823 |
| ENSE00001370936 | 82984161 | 82984876 |
| ENSE00001375256 | 82978883 | 82979006 |
| ENSE00003487395 | 82946258 | 82946474 |
| ENSE00003500920 | 82936279 | 82936381 |
| ENSE00003536430 | 82924603 | 82928303 |
| ENSE00003575706 | 82930943 | 82931145 |
| ENSE00003605774 | 82970327 | 82970469 |
| ENSE00003631656 | 82935981 | 82936118 |
| ENSE00003633302 | 82939539 | 82939736 |
| ENSE00003663973 | 82937227 | 82937298 |
| ENSE00003675774 | 82938413 | 82938504 |
| ENSE00003687611 | 82939889 | 82939962 |
Expression profiles
Bgee: expression breadth ubiquitous, 166 present calls, max score 87.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3941 / max 292.8685, expressed in 1742 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52902 | 4.5804 | 1331 |
| 52899 | 3.2871 | 1433 |
| 52903 | 1.7456 | 969 |
| 52900 | 0.6076 | 308 |
| 52901 | 0.1472 | 38 |
| 52898 | 0.0262 | 6 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 87.24 | gold quality |
| bone marrow cell | CL:0002092 | 86.59 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.06 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.87 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.75 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.32 | gold quality |
| adrenal tissue | UBERON:0018303 | 81.25 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.73 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.54 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.46 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.01 | gold quality |
| rectum | UBERON:0001052 | 78.89 | gold quality |
| cortical plate | UBERON:0005343 | 78.64 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 77.16 | gold quality |
| leukocyte | CL:0000738 | 77.09 | gold quality |
| monocyte | CL:0000576 | 76.96 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 76.95 | gold quality |
| esophagus mucosa | UBERON:0002469 | 76.86 | gold quality |
| muscle of leg | UBERON:0001383 | 76.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.62 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 76.27 | gold quality |
| vermiform appendix | UBERON:0001154 | 75.45 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.11 | gold quality |
| esophagus | UBERON:0001043 | 74.06 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 73.92 | gold quality |
| popliteal artery | UBERON:0002250 | 73.78 | gold quality |
| tibial artery | UBERON:0007610 | 73.76 | gold quality |
| gall bladder | UBERON:0002110 | 73.66 | gold quality |
| spinal cord | UBERON:0002240 | 73.60 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.18 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
193 targeting LIN54, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 24.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- the cysteine-rich CXC domain of LIN54 is a novel DNA-binding domain that binds to the cdc2 promoter in a sequence-specific manner (PMID:19725879)
- LIN54 harboring a mutation in CHC domain is localized to the cytoplasm and inhibits cell cycle progression. (PMID:22895175)
- the DNA-binding properties of LIN54 and the structural basis for recognition of a cell cycle genes homology region sequence, are described. (PMID:27465258)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lin54 | ENSDARG00000063194 |
| mus_musculus | Lin54 | ENSMUSG00000118665 |
| rattus_norvegicus | Lin54 | ENSRNOG00000002203 |
Paralogs (1): TESMIN (ENSG00000132749)
Protein
Protein identifiers
Protein lin-54 homolog — Q6MZP7 (reviewed: Q6MZP7)
Alternative names: CXC domain-containing protein 1
All UniProt accessions (2): D6REW4, Q6MZP7
UniProt curated annotations — full annotation on UniProt →
Function. Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context. In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes. In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation. In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner. Specifically recognizes the consensus motif 5’-TTYRAA-3’ in target DNA.
Subunit / interactions. Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2.
Subcellular location. Nucleus.
Domain organisation. The CRC domain mediates DNA-binding. It contains two CXC subdomains (joined by a flexible linker) which are both required for efficient association with target DNA. Each CXC subdomain coordinates three Zn(2+) ions.
Similarity. Belongs to the lin-54 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6MZP7-1 | 1 | yes |
| Q6MZP7-2 | 2 | |
| Q6MZP7-3 | 3 | |
| Q6MZP7-4 | 4 | |
| Q6MZP7-5 | 5 |
RefSeq proteins (5): NP_001108479, NP_001108480, NP_001275925, NP_001275926, NP_919258* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005172 | CRC | Domain |
| IPR028307 | Lin-54_fam | Family |
| IPR033467 | Tesmin/TSO1-like_CXC | Domain |
Pfam: PF03638
UniProt features (64 total): binding site 24, modified residue 7, cross-link 5, splice variant 5, helix 5, region of interest 4, mutagenesis site 4, site 3, sequence conflict 2, strand 2, chain 1, domain 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5FD3 | X-RAY DIFFRACTION | 2.42 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6MZP7-F1 | 53.94 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 536 (critical for interaction with target dna); 574 (interaction with dna); 610 (critical for interaction with target dna)
Ligand- & substrate-binding residues (24): 532; 537; 539; 546; 546; 549; 551; 554; 599; 599; 601; 606 …
Post-translational modifications (12): 244, 249, 264, 282, 310, 314, 635, 139, 357, 639, 659, 661
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 525 | abolishes dna-binding to the cdk1 promoter; when associated with y-527. |
| 527 | abolishes dna-binding to the cdk1 promoter; when associated with y-525. |
| 536 | loss of dna-binding. |
| 610 | loss of dna-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
14 pathways
| ID | Pathway |
|---|---|
| R-HSA-1362277 | Transcription of E2F targets under negative control by DREAM complex |
| R-HSA-1362300 | Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 |
| R-HSA-1538133 | G0 and Early G1 |
| R-HSA-156711 | Polo-like kinase mediated events |
| R-HSA-69202 | Cyclin E associated events during G1/S transition |
| R-HSA-69205 | G1/S-Specific Transcription |
| R-HSA-69656 | Cyclin A:Cdk2-associated events at S phase entry |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-453279 | Mitotic G1 phase and G1/S transition |
| R-HSA-69206 | G1/S Transition |
| R-HSA-69242 | S Phase |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 193 (showing top):
FREAC2_01, REACTOME_G1_S_SPECIFIC_TRANSCRIPTION, TTCCGTT_MIR191, BRN2_01, WTGAAAT_UNKNOWN, OCT1_06, TGACATY_UNKNOWN, NRF2_Q4, CREB_Q3, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, CUI_TCF21_TARGETS_2_DN, DBP_Q6, GOBP_CHROMATIN_REMODELING, chr4q21
GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), nucleosome organization (GO:0034728)
GO Molecular Function (5): transcription regulatory region nucleic acid binding (GO:0001067), minor groove of adenine-thymine-rich DNA binding (GO:0003680), metal ion binding (GO:0046872), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II transcription repressor complex (GO:0090571)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Cell Cycle, Mitotic | 3 |
| G0 and Early G1 | 2 |
| Mitotic G1 phase and G1/S transition | 2 |
| G1/S Transition | 2 |
| G2/M Transition | 1 |
| S Phase | 1 |
| Mitotic G2-G2/M phases | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin remodeling | 1 |
| protein-DNA complex organization | 1 |
| DNA secondary structure binding | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| transcription repressor complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1260 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LIN54 | LIN37 | Q96GY3 | 999 |
| LIN54 | LIN9 | Q5TKA1 | 999 |
| LIN54 | RBBP4 | P31149 | 999 |
| LIN54 | LIN52 | Q52LA3 | 999 |
| LIN54 | MYBL2 | P10244 | 992 |
| LIN54 | E2F4 | Q16254 | 943 |
| LIN54 | RBL2 | Q08999 | 862 |
| LIN54 | FOXM1 | Q08050 | 719 |
| LIN54 | MSI1 | O43347 | 665 |
| LIN54 | FRG2C | A6NGY1 | 620 |
| LIN54 | RBBP7 | Q16576 | 606 |
| LIN54 | E2F5 | Q15329 | 590 |
| LIN54 | ZNF354A | O60765 | 581 |
| LIN54 | TIMM8A | O60220 | 562 |
| LIN54 | KCNIP3 | Q9Y2W7 | 541 |
IntAct
147 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| CDK2 | CCNB2 | psi-mi:“MI:0914”(association) | 0.860 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| LIN37 | RBL2 | psi-mi:“MI:0914”(association) | 0.770 |
| LIN37 | MYBL2 | psi-mi:“MI:0914”(association) | 0.730 |
| TUSC3 | RPN2 | psi-mi:“MI:0914”(association) | 0.730 |
| L3MBTL2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| LIN9 | MYBL2 | psi-mi:“MI:0914”(association) | 0.720 |
| LIN9 | RBL2 | psi-mi:“MI:0914”(association) | 0.700 |
| RBL2 | LIN9 | psi-mi:“MI:0914”(association) | 0.700 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN37 | MYBL1 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN54 | RBL2 | psi-mi:“MI:0914”(association) | 0.620 |
| LIN54 | RBL2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| LIN54 | MYBL2 | psi-mi:“MI:0914”(association) | 0.560 |
| RBL2 | LIN52 | psi-mi:“MI:0914”(association) | 0.560 |
| SF3A2 | LIN54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SP3 | LIN54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF143 | LIN54 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (156): LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Proximity Label-MS), LIN54 (Proximity Label-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), MYBL2 (Affinity Capture-Western), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN54 (Affinity Capture-MS)
ESM2 similar proteins: A1Z9E2, B0R0I6, B5DE69, G5ED89, O94842, P25425, P32519, P34333, P34447, Q02086, Q08CM4, Q09XV5, Q0IHV2, Q0P5K4, Q0V9U1, Q15723, Q28BL7, Q3TUF7, Q571G4, Q5E9U0, Q5F3U0, Q5R6A9, Q5RBN8, Q5RCV7, Q60775, Q641Z1, Q6DJM6, Q6IQU7, Q6MZP7, Q7Z589, Q7ZUV7, Q7ZX03, Q86NP2, Q8AYC1, Q8BIH0, Q8BMB0, Q8BU11, Q8CHI8, Q8IRW8, Q8WNV2
Diamond homologs: A1Z9E2, F4JIF5, F4JY84, Q08CM4, Q0IHV2, Q571G4, Q5RBN8, Q5XHX9, Q641Z1, Q6MZP7, Q700D0, Q84JZ8, Q8L548, Q95QD7, Q9LUI3, Q9SL70, Q9SZD1, Q9WTJ6, Q9Y4I5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 134 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 |
|---|---|---|---|
| Polo-like kinase mediated events | 7 | 44.0× | 2e-08 |
| G0 and Early G1 | 10 | 43.5× | 6e-12 |
| Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 | 7 | 41.7× | 2e-08 |
| Transcription of E2F targets under negative control by DREAM complex | 7 | 37.7× | 4e-08 |
| Cyclin E associated events during G1/S transition | 9 | 25.4× | 2e-08 |
| G1/S-Specific Transcription | 7 | 24.7× | 9e-07 |
| Cyclin A:Cdk2-associated events at S phase entry | 9 | 23.7× | 2e-08 |
| G1/S Transition | 6 | 13.8× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G1/S transition of mitotic cell cycle | 6 | 9.6× | 5e-03 |
| chromatin remodeling | 10 | 5.8× | 2e-03 |
| transcription by RNA polymerase II | 10 | 5.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2394 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:82928138:T:A | donor_gain | 1.0000 |
| 4:82928161:T:C | donor_gain | 1.0000 |
| 4:82930937:A:AC | donor_gain | 1.0000 |
| 4:82930938:C:CC | donor_gain | 1.0000 |
| 4:82930938:CTTA:C | donor_gain | 1.0000 |
| 4:82930941:A:AC | donor_gain | 1.0000 |
| 4:82930941:ACTTT:A | donor_gain | 1.0000 |
| 4:82930942:C:CG | donor_gain | 1.0000 |
| 4:82930942:CTTT:C | donor_gain | 1.0000 |
| 4:82930942:CTTTC:C | donor_gain | 1.0000 |
| 4:82936274:ATCAC:A | donor_loss | 1.0000 |
| 4:82936275:TCAC:T | donor_loss | 1.0000 |
| 4:82936276:CACC:C | donor_loss | 1.0000 |
| 4:82936278:C:CT | donor_loss | 1.0000 |
| 4:82936377:AATAC:A | acceptor_gain | 1.0000 |
| 4:82936378:ATAC:A | acceptor_gain | 1.0000 |
| 4:82936379:TAC:T | acceptor_gain | 1.0000 |
| 4:82936380:AC:A | acceptor_gain | 1.0000 |
| 4:82936381:CC:C | acceptor_gain | 1.0000 |
| 4:82936381:CCT:C | acceptor_loss | 1.0000 |
| 4:82936382:C:CC | acceptor_gain | 1.0000 |
| 4:82936382:CTG:C | acceptor_loss | 1.0000 |
| 4:82937222:CTTA:C | donor_loss | 1.0000 |
| 4:82937223:TTACA:T | donor_loss | 1.0000 |
| 4:82937225:A:AC | donor_gain | 1.0000 |
| 4:82937225:ACAA:A | donor_loss | 1.0000 |
| 4:82937226:C:CT | donor_gain | 1.0000 |
| 4:82937226:CA:C | donor_gain | 1.0000 |
| 4:82937226:CAA:C | donor_gain | 1.0000 |
| 4:82937226:CAAT:C | donor_gain | 1.0000 |
AlphaMissense
4821 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:82928184:A:G | L723P | 1.000 |
| 4:82928187:A:T | I722K | 1.000 |
| 4:82928239:C:G | A705P | 1.000 |
| 4:82928250:A:G | L701P | 1.000 |
| 4:82931038:C:A | R651S | 1.000 |
| 4:82931038:C:G | R651S | 1.000 |
| 4:82931048:G:T | A648D | 1.000 |
| 4:82931049:C:G | A648P | 1.000 |
| 4:82931052:C:G | A647P | 1.000 |
| 4:82931058:C:G | A645P | 1.000 |
| 4:82931060:A:C | L644W | 1.000 |
| 4:82931060:A:G | L644S | 1.000 |
| 4:82931069:A:C | L641W | 1.000 |
| 4:82931069:A:G | L641S | 1.000 |
| 4:82931077:C:A | R638S | 1.000 |
| 4:82931077:C:G | R638S | 1.000 |
| 4:82931086:G:C | S635R | 1.000 |
| 4:82931086:G:T | S635R | 1.000 |
| 4:82931088:T:G | S635R | 1.000 |
| 4:82931098:A:C | N631K | 1.000 |
| 4:82931098:A:T | N631K | 1.000 |
| 4:82931099:T:A | N631I | 1.000 |
| 4:82931099:T:G | N631T | 1.000 |
| 4:82931100:T:C | N631D | 1.000 |
| 4:82931100:T:G | N631H | 1.000 |
| 4:82931104:A:C | C629W | 1.000 |
| 4:82931105:C:A | C629F | 1.000 |
| 4:82931105:C:G | C629S | 1.000 |
| 4:82931105:C:T | C629Y | 1.000 |
| 4:82931106:A:G | C629R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS10000180 (4:82978611 G>A,T), RS1000037570 (4:82947715 A>C,G), RS1000043824 (4:82972986 C>T), RS1000050755 (4:83003833 T>C), RS1000135675 (4:82987458 T>C), RS1000278599 (4:82935831 G>A,C,T), RS1000282986 (4:82926136 A>G), RS1000288930 (4:82982991 T>C), RS1000325204 (4:82948103 A>G), RS1000348871 (4:82983011 T>G), RS1000387971 (4:82990283 C>T), RS1000454237 (4:82943234 T>C), RS1000456816 (4:82983306 C>A,T), RS1000463919 (4:82932831 A>AT), RS1000537602 (4:82934711 A>G)
Disease associations
OMIM: gene MIM:613367 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_58 | Red blood cell count | 6.000000e-12 |
| GCST004632_107 | Lymphocyte percentage of white cells | 1.000000e-09 |
| GCST005996_17 | Red blood cell count | 8.000000e-09 |
| GCST006629_95 | Pulse pressure | 4.000000e-14 |
| GCST007267_112 | Systolic blood pressure | 4.000000e-11 |
| GCST007269_37 | Pulse pressure | 6.000000e-10 |
| GCST010241_345 | Apolipoprotein A1 levels | 4.000000e-08 |
| GCST010242_275 | HDL cholesterol levels | 3.000000e-09 |
| GCST012490_135 | Femur bone mineral density x serum urate levels interaction | 2.000000e-08 |
| GCST90002383_392 | Hematocrit | 1.000000e-09 |
| GCST90002388_346 | Lymphocyte count | 7.000000e-18 |
| GCST90002389_50 | Lymphocyte percentage of white cells | 3.000000e-17 |
| GCST90002397_12 | Mean spheric corpuscular volume | 9.000000e-10 |
| GCST90002398_456 | Neutrophil count | 7.000000e-11 |
| GCST90002399_378 | Neutrophil percentage of white cells | 3.000000e-10 |
| GCST90002401_147 | Platelet distribution width | 2.000000e-10 |
| GCST90002403_428 | Red blood cell count | 1.000000e-18 |
| GCST90002404_82 | Red cell distribution width | 6.000000e-13 |
| GCST90002407_439 | White blood cell count | 7.000000e-12 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004531 | urate measurement |
| EFO:0004348 | hematocrit |
| EFO:0004587 | lymphocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007984 | platelet component distribution width |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 4 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| alpha-pinene | increases expression, increases abundance, affects cotreatment | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| resorcinol | increases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases expression, increases abundance, affects cotreatment | 1 |
| Smoke | increases abundance, decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Acrylamide | increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, 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.