MLLT11
gene geneOn this page
Also known as AF1Q
Summary
MLLT11 (MLLT11 transcription factor 7 cofactor, HGNC:16997) is a protein-coding gene on chromosome 1q21.3, encoding Protein AF1q (Q13015). Cofactor for the transcription factor TCF7.
The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested.
Source: NCBI Gene 10962 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 10 total
- MANE Select transcript:
NM_006818
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16997 |
| Approved symbol | MLLT11 |
| Name | MLLT11 transcription factor 7 cofactor |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AF1Q |
| Ensembl gene | ENSG00000213190 |
| Ensembl biotype | protein_coding |
| OMIM | 604684 |
| Entrez | 10962 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000368921, ENST00000889973, ENST00000889974, ENST00000889975, ENST00000889976, ENST00000919078, ENST00000919079, ENST00000919080
RefSeq mRNA: 1 — MANE Select: NM_006818
NM_006818
CCDS: CCDS982
Canonical transcript exons
ENST00000368921 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001448288 | 151067219 | 151069544 |
| ENSE00001448289 | 151060397 | 151060553 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 99.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.1305 / max 2364.1979, expressed in 1635 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5189 | 41.0834 | 1479 |
| 5190 | 7.0102 | 845 |
| 5188 | 2.3863 | 936 |
| 5187 | 2.3436 | 845 |
| 5184 | 2.0344 | 858 |
| 5192 | 1.2057 | 332 |
| 5191 | 1.0868 | 361 |
| 5185 | 0.9845 | 447 |
| 5186 | 0.5263 | 298 |
| 5193 | 0.2654 | 110 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pons | UBERON:0000988 | 99.73 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.73 | gold quality |
| frontal pole | UBERON:0002795 | 99.68 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.62 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.54 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.52 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 99.52 | gold quality |
| cortical plate | UBERON:0005343 | 99.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.45 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.40 | gold quality |
| endothelial cell | CL:0000115 | 99.38 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.38 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.36 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.29 | gold quality |
| paraflocculus | UBERON:0005351 | 99.23 | gold quality |
| parietal lobe | UBERON:0001872 | 99.21 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.21 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.19 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.15 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.99 | gold quality |
| occipital lobe | UBERON:0002021 | 98.69 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 98.69 | gold quality |
| oocyte | CL:0000023 | 98.63 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.57 | gold quality |
| primary visual cortex | UBERON:0002436 | 98.50 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.49 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 98.42 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.40 | gold quality |
| embryo | UBERON:0000922 | 98.24 | gold quality |
| secondary oocyte | CL:0000655 | 98.22 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6911 | yes | 4557.74 |
| E-HCAD-5 | yes | 2523.84 |
| E-MTAB-10485 | yes | 2211.11 |
| E-GEOD-75140 | yes | 2051.54 |
| E-MTAB-9906 | yes | 1838.82 |
| E-MTAB-11121 | yes | 1575.32 |
| E-MTAB-6108 | yes | 1573.38 |
| E-MTAB-10018 | yes | 650.24 |
| E-MTAB-8205 | yes | 485.43 |
| E-MTAB-3929 | yes | 81.23 |
| E-MTAB-7316 | yes | 15.13 |
| E-HCAD-25 | yes | 11.50 |
| E-HCAD-10 | yes | 5.64 |
| E-GEOD-93593 | no | 3860.72 |
| E-MTAB-9154 | no | 3678.08 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| BAD | Activation |
miRNA regulators (miRDB)
92 targeting MLLT11, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
Literature-anchored findings (GeneRIF, showing 22)
- The ectopic expression of human AF1q triggered the expression of the neuronal marker TuJ1 in non-neuronal human embryonic kidney (HEK) cells. (PMID:15530661)
- overexpression of AF1Q leads to more progression in human breast cancer (PMID:17929166)
- The study provides the first evidence that AF1q plays a critical role in the regulation of apoptosis and drug resistance. (PMID:18852119)
- high AF1q expression is a poor prognostic marker for adult patients with normal cytogenetics acute myeloid leukemia (PMID:19396856)
- AF1q up-regulation of BAD is through its effect on NF-kappaB and this may hint of its oncogenic mechanism in cancer. (PMID:20596645)
- Using in vitro assays based on either forced expression or shRNA-mediated silencing of AF1q, the study provides evidence that the protein promotes T- over B-cell differentiation in multipotent hematopoietic progenitors. (PMID:21715312)
- AF1q plays a role in the onset of basal apoptosis in ovarian cancer cells, thus providing new information about the activity of this protein whose biologic functions are mostly unknown (PMID:22761939)
- AF1Q had a KFERQ-like motif. (PMID:24880125)
- Findings indicate that breast cancer cells with a hyperactive AF1q/TCF7/CD44 regulatory axis in the primary sites may represent “metastatic founder cells” which have invasive properties. (PMID:26079538)
- Results demonstrate that AF1q gene transcription is regulated by REST through direct binding at -383 to -363 bp of AF1q promoter. (PMID:26341630)
- Data show that MLLT11/AF1q-induced PDGFR signaling enhanced STAT3 activity through Src kinase activation. (PMID:27259262)
- This finding suggested statistically significant role of interaction of TXNIP and AF1q polymorphisms (TXNIP-rs2236566, TXNIP-rs7211, and AF1q-rs2769605) in schizophrenia susceptibility. (PMID:27510506)
- These results suggest that AF1q would have a role as an enhancer in generation of stem-like population through activation of Wnt signaling pathway. (PMID:28188793)
- AF1q was significantly lower in borderline ovarian tumors (i.e., tumors of low malignant potential without stromal invasion) than in invasive tumors, thus corroborating the association between high AF1q expression and increased migratory/invasive cell behavior and confirming its potential role in ovarian cancer progression. (PMID:28423573)
- AF1q was up-regulated in human colorectal cancer tissues, and that this up-regulation was associated with tumor metastasis. AF1q contributes to CRC tumorigenesis through the activation of the AKT signaling pathway. (PMID:28475127)
- A positive correlation between AF1q and CD44 expression. (PMID:30154435)
- AF1q Expression Associates with CD44 and STAT3 and Impairs Overall Survival in Adenoid Cystic Carcinoma of the Head and Neck. (PMID:31273546)
- High AF1q expression is associated with Esophageal Cancer. (PMID:31671695)
- LPAR5 stimulates the malignant progression of non-small-cell lung carcinoma by upregulating MLLT11. (PMID:32964980)
- A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. (PMID:34828371)
- MLLT11 siRNA Inhibits the Migration and Promotes the Apoptosis of MDA-MB-231 Breast Cancer Cells. (PMID:38075552)
- MLLT11 Regulates Endometrial Stroma Cell Adhesion, Proliferation and Survival in Ectopic Lesions of Women with Advanced Endometriosis. (PMID:38203610)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mllt11 | ENSDARG00000071026 |
| mus_musculus | Mllt11 | ENSMUSG00000053192 |
| rattus_norvegicus | Mllt11 | ENSRNOG00000021110 |
Protein
Protein identifiers
Protein AF1q — Q13015 (reviewed: Q13015)
All UniProt accessions (2): Q13015, Q6FGF7
UniProt curated annotations — full annotation on UniProt →
Function. Cofactor for the transcription factor TCF7. Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate.
Subunit / interactions. Interacts with HSPA8 and LAMP2 isoform A; the interaction may target MLLT11 for degradation via chaperone-mediated autophagy. Interacts with TCF7.
Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Tissue specificity. Expressed in myoepithelial cells of normal breast tissue (at protein level). Highly expressed in thymus. Expressed in colon, small intestine, prostate and ovary. Not detected in peripheral blood lymphocytes and spleen.
Post-translational modifications. Ubiquitinated, leading to degradation.
Disease relevance. A chromosomal aberration involving MLLT11 is found in acute leukemias. Translocation t(1;11)(q21;q23) with KMT2A/MLL1.
Similarity. Belongs to the MLLT11 family.
RefSeq proteins (1): NP_006809* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026778 | MLLT11_fam | Family |
| IPR033461 | WRNPLPNID | Domain |
Pfam: PF15017
UniProt features (4 total): chain 1, short sequence motif 1, modified residue 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13015-F1 | 64.00 | 0.00 |
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 (1): 84
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 24–32 | constitutive nuclear sequestration. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 279 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GNF2_RTN1, CREL_01, MODULE_52, GOBP_MEMBRANE_DEPOLARIZATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GCANCTGNY_MYOD_Q6, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, BOYAULT_LIVER_CANCER_SUBCLASS_G2, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GOBP_POSITIVE_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, AATGGAG_MIR136
GO Biological Process (7): positive regulation of apoptotic process (GO:0043065), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of mitochondrial depolarization (GO:0051901), positive regulation of release of cytochrome c from mitochondria (GO:0090200), extrinsic apoptotic signaling pathway (GO:0097191), intrinsic apoptotic signaling pathway (GO:0097193), apoptotic signaling pathway (GO:0097190)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), centrosome (GO:0005813), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| apoptotic process | 2 |
| apoptotic signaling pathway | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| mitochondrial depolarization | 1 |
| regulation of mitochondrial depolarization | 1 |
| positive regulation of membrane depolarization | 1 |
| release of cytochrome c from mitochondria | 1 |
| positive regulation of organelle organization | 1 |
| regulation of release of cytochrome c from mitochondria | 1 |
| cell surface receptor signaling pathway | 1 |
| intracellular signal transduction | 1 |
| signal transduction | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
518 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MLLT11 | KMT2A | Q03164 | 859 |
| MLLT11 | AFF1 | P51825 | 654 |
| MLLT11 | MLLT6 | P55198 | 621 |
| MLLT11 | MLLT10 | P55197 | 600 |
| MLLT11 | ELL | P55199 | 596 |
| MLLT11 | MLLT1 | Q03111 | 575 |
| MLLT11 | MLLT3 | P42568 | 569 |
| MLLT11 | TCF7 | P36402 | 521 |
| MLLT11 | SEPTIN6 | Q14141 | 506 |
| MLLT11 | AFDN | P55196 | 505 |
| MLLT11 | ABI1 | Q8IZP0 | 489 |
| MLLT11 | TXNIP | Q9H3M7 | 453 |
| MLLT11 | LEF1 | Q9UJU2 | 432 |
| MLLT11 | CTNNB1 | P35222 | 408 |
| MLLT11 | MLF1 | P58340 | 396 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJA4 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.710 |
| MLLT11 | S100B | psi-mi:“MI:0915”(physical association) | 0.590 |
| MLLT11 | TCF7 | psi-mi:“MI:0915”(physical association) | 0.510 |
| HBZ | MLLT11 | psi-mi:“MI:0915”(physical association) | 0.490 |
| MLLT11 | HBZ | psi-mi:“MI:0915”(physical association) | 0.490 |
| MLLT11 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TRIL | MLLT11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MLLT11 | LEF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MLLT11 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MLLT11 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | MLLT11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSPA8 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| ECH1 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ECH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAD2L2 | psi-mi:“MI:0914”(association) | 0.350 | |
| TSPO | psi-mi:“MI:0914”(association) | 0.350 | |
| DND1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L14 | psi-mi:“MI:0914”(association) | 0.350 | |
| OASL | LARP1 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY6 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A3 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | RAVER1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| Vav2 | CALU | psi-mi:“MI:0914”(association) | 0.350 |
| ECT2L | NEFL | psi-mi:“MI:0914”(association) | 0.350 |
| RIOX1 | NDUFS7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (82): MLLT11 (Affinity Capture-MS), S100B (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Synthetic Lethality), MLLT11 (Proximity Label-MS), MLLT11 (Co-fractionation), MLLT11 (Co-fractionation), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS), MLLT11 (Affinity Capture-MS)
ESM2 similar proteins: A1CMP1, A3KQS5, A5HWA8, A6R5Z3, E7Q3U9, O13709, O60071, O74986, O84008, O84512, O84640, O94670, O94707, P0C755, P22469, P25049, P34518, P35198, P39424, P40380, P41993, P97783, Q06324, Q07541, Q09383, Q09599, Q09664, Q0ULD0, Q0VCT1, Q13015, Q1DI23, Q4KMC9, Q5M971, Q5R4W2, Q6CQB7, Q6CS73, Q6FWU4, Q6ZQV5, Q722M0, Q7VKZ7
Diamond homologs: A3KQS5, P97783, Q0VCT1, Q13015, Q5M971, Q5R4W2
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MLLT11 | up-regulates | Proliferation | |
| MLLT11 | up-regulates | Differentiation | |
| MLLT11 | “up-regulates activity” | TCF7 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1031 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:151067255:T:TA | donor_gain | 0.9900 |
| 1:151067267:T:TA | acceptor_gain | 0.9900 |
| 1:151057932:G:GG | donor_gain | 0.9800 |
| 1:151057908:G:T | donor_gain | 0.9700 |
| 1:151057928:GTCA:G | donor_gain | 0.9700 |
| 1:151063964:C:CC | acceptor_gain | 0.9700 |
| 1:151067217:A:AG | acceptor_gain | 0.9700 |
| 1:151067218:G:GG | acceptor_gain | 0.9700 |
| 1:151067218:GGAA:G | acceptor_gain | 0.9700 |
| 1:151067268:G:A | acceptor_gain | 0.9700 |
| 1:151057881:G:GT | donor_gain | 0.9600 |
| 1:151057885:C:G | donor_gain | 0.9500 |
| 1:151067213:TTCTA:T | acceptor_loss | 0.9500 |
| 1:151067214:TCTAG:T | acceptor_loss | 0.9500 |
| 1:151067215:CTAGG:C | acceptor_loss | 0.9500 |
| 1:151067216:TAG:T | acceptor_loss | 0.9500 |
| 1:151057936:G:GG | donor_gain | 0.9400 |
| 1:151058274:A:T | donor_gain | 0.9400 |
| 1:151067206:GGTTT:G | acceptor_loss | 0.9400 |
| 1:151067207:GTTT:G | acceptor_loss | 0.9400 |
| 1:151067208:TTTC:T | acceptor_loss | 0.9400 |
| 1:151067209:TTCT:T | acceptor_loss | 0.9400 |
| 1:151067210:TCTTT:T | acceptor_loss | 0.9400 |
| 1:151067211:CTTTC:C | acceptor_loss | 0.9400 |
| 1:151067212:TTTCT:T | acceptor_loss | 0.9400 |
| 1:151058273:G:GT | donor_gain | 0.9300 |
| 1:151067267:TGGAG:T | acceptor_gain | 0.9100 |
| 1:151067268:GGAGG:G | acceptor_gain | 0.9100 |
| 1:151057930:C:A | donor_gain | 0.9000 |
| 1:151059473:CCTCA:C | donor_loss | 0.9000 |
AlphaMissense
597 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:151067258:T:C | F12L | 0.993 |
| 1:151067260:T:A | F12L | 0.993 |
| 1:151067260:T:G | F12L | 0.993 |
| 1:151067269:G:C | W15C | 0.991 |
| 1:151067269:G:T | W15C | 0.991 |
| 1:151067447:T:A | W75R | 0.991 |
| 1:151067447:T:C | W75R | 0.991 |
| 1:151067267:T:A | W15R | 0.990 |
| 1:151067267:T:C | W15R | 0.990 |
| 1:151067438:T:C | F72L | 0.990 |
| 1:151067440:C:A | F72L | 0.990 |
| 1:151067440:C:G | F72L | 0.990 |
| 1:151067449:G:C | W75C | 0.990 |
| 1:151067449:G:T | W75C | 0.990 |
| 1:151067264:T:C | F14L | 0.988 |
| 1:151067266:C:A | F14L | 0.988 |
| 1:151067266:C:G | F14L | 0.988 |
| 1:151067280:T:C | I19T | 0.986 |
| 1:151067259:T:C | F12S | 0.980 |
| 1:151067272:G:C | R16S | 0.976 |
| 1:151067272:G:T | R16S | 0.976 |
| 1:151067280:T:A | I19N | 0.976 |
| 1:151067439:T:C | F72S | 0.974 |
| 1:151067444:T:C | F74L | 0.974 |
| 1:151067446:C:A | F74L | 0.974 |
| 1:151067446:C:G | F74L | 0.974 |
| 1:151067280:T:G | I19S | 0.972 |
| 1:151067259:T:G | F12C | 0.971 |
| 1:151067448:G:C | W75S | 0.971 |
| 1:151067460:T:A | I79N | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000140490 (1:151069110 C>T), RS1000561407 (1:151063834 G>C), RS1000745137 (1:151066553 G>C), RS1000895962 (1:151061342 C>T), RS1001036557 (1:151063647 G>A,C), RS1001236637 (1:151069429 T>G), RS1001518189 (1:151059272 C>A,T), RS1001569194 (1:151058874 G>A,C), RS1002064470 (1:151064271 G>A,C), RS1002351638 (1:151064532 A>G), RS1002738563 (1:151062022 GA>G), RS1002800576 (1:151068900 A>G), RS1002863352 (1:151059515 T>A), RS1002925465 (1:151066029 G>A), RS1003312019 (1:151063694 G>C)
Disease associations
OMIM: gene MIM:604684 | 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 |
|---|---|---|
| GCST008839_497 | Height | 2.000000e-10 |
| GCST010988_254 | Adult body size | 4.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
80 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 5 |
| Benzo(a)pyrene | increases methylation, increases expression | 4 |
| Air Pollutants | decreases expression, increases abundance | 3 |
| Tretinoin | decreases expression, increases expression | 3 |
| Cyclosporine | affects expression, increases expression | 3 |
| cobaltous chloride | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tunicamycin | decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| Okadaic Acid | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| perfluorodecanesulfonic acid | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression | 1 |
| sodium arsenate | increases expression | 1 |
| thallium sulfate | increases expression | 1 |
| arsenite | affects expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| ferrous chloride | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| azoxystrobin | 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.