H2AC13
gene geneOn this page
Also known as H2A/c
Summary
H2AC13 (H2A clustered histone 13, HGNC:4725) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2A type 1 (P0C0S8). Core component of nucleosome.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3.
Source: NCBI Gene 8329 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 14 total
- MANE Select transcript:
NM_003509
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4725 |
| Approved symbol | H2AC13 |
| Name | H2A clustered histone 13 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H2A/c |
| Ensembl gene | ENSG00000196747 |
| Ensembl biotype | protein_coding |
| OMIM | 602787 |
| Entrez | 8329 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000358739
RefSeq mRNA: 1 — MANE Select: NM_003509
NM_003509
CCDS: CCDS4626
Canonical transcript exons
ENST00000358739 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001417017 | 27808173 | 27808667 |
Expression profiles
Bgee: expression breadth ubiquitous, 120 present calls, max score 98.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1620.4592 / max 55195.7198, expressed in 1803 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66577 | 1620.4592 | 1803 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow cell | CL:0002092 | 98.73 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.52 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.75 | gold quality |
| bone marrow | UBERON:0002371 | 82.80 | gold quality |
| monocyte | CL:0000576 | 79.08 | gold quality |
| leukocyte | CL:0000738 | 77.83 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.91 | gold quality |
| blood | UBERON:0000178 | 71.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 71.10 | gold quality |
| tonsil | UBERON:0002372 | 66.92 | gold quality |
| rectum | UBERON:0001052 | 65.91 | gold quality |
| thymus | UBERON:0002370 | 63.09 | silver quality |
| endometrium epithelium | UBERON:0004811 | 62.85 | gold quality |
| ventricular zone | UBERON:0003053 | 62.77 | gold quality |
| lymph node | UBERON:0000029 | 60.96 | gold quality |
| quadriceps femoris | UBERON:0001377 | 60.50 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 59.98 | gold quality |
| vastus lateralis | UBERON:0001379 | 59.82 | gold quality |
| granulocyte | CL:0000094 | 58.73 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 58.19 | gold quality |
| cerebellar vermis | UBERON:0004720 | 57.59 | gold quality |
| calcaneal tendon | UBERON:0003701 | 55.99 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 55.97 | gold quality |
| esophagus mucosa | UBERON:0002469 | 55.65 | gold quality |
| placenta | UBERON:0001987 | 54.47 | gold quality |
| spleen | UBERON:0002106 | 53.63 | gold quality |
| right lung | UBERON:0002167 | 52.57 | gold quality |
| transverse colon | UBERON:0001157 | 51.96 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 51.84 | gold quality |
| right adrenal gland | UBERON:0001233 | 51.77 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 20223.13 |
| E-MTAB-9543 | yes | 5116.08 |
| E-HCAD-56 | yes | 1369.51 |
| E-CURD-84 | yes | 1237.56 |
| E-ANND-3 | yes | 3.03 |
Regulation
Is transcription factor: no
Cross-species orthologs
20 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | His2A:CG31618 | FBGN0051618 |
| drosophila_melanogaster | His2A:CG33808 | FBGN0053808 |
| drosophila_melanogaster | His2A:CG33814 | FBGN0053814 |
| drosophila_melanogaster | His2A:CG33817 | FBGN0053817 |
| drosophila_melanogaster | His2A:CG33820 | FBGN0053820 |
| drosophila_melanogaster | His2A:CG33823 | FBGN0053823 |
| drosophila_melanogaster | His2A:CG33826 | FBGN0053826 |
| drosophila_melanogaster | His2A:CG33829 | FBGN0053829 |
| drosophila_melanogaster | His2A:CG33832 | FBGN0053832 |
| drosophila_melanogaster | His2A:CG33835 | FBGN0053835 |
| drosophila_melanogaster | His2A:CG33838 | FBGN0053838 |
| drosophila_melanogaster | His2A:CG33841 | FBGN0053841 |
| drosophila_melanogaster | His2A:CG33844 | FBGN0053844 |
| drosophila_melanogaster | His2A:CG33847 | FBGN0053847 |
| drosophila_melanogaster | His2A:CG33850 | FBGN0053850 |
| drosophila_melanogaster | His2A:CG33853 | FBGN0053853 |
| drosophila_melanogaster | His2A:CG33856 | FBGN0053856 |
| drosophila_melanogaster | His2A:CG33859 | FBGN0053859 |
| drosophila_melanogaster | His2A:CG33862 | FBGN0053862 |
| drosophila_melanogaster | His2A:CG33865 | FBGN0053865 |
Paralogs (27): MACROH2A2 (ENSG00000099284), H2AZ2 (ENSG00000105968), MACROH2A1 (ENSG00000113648), H2AZ1 (ENSG00000164032), H2AC1 (ENSG00000164508), H2AC6 (ENSG00000180573), H2AC25 (ENSG00000181218), H2AC20 (ENSG00000184260), H2AC21 (ENSG00000184270), H2AX (ENSG00000188486), H2AC11 (ENSG00000196787), H2AC7 (ENSG00000196866), H2AL3 (ENSG00000229674), H2AJ (ENSG00000246705), H2AL1Q (ENSG00000249467), H2AB1 (ENSG00000274183), H2AC12 (ENSG00000274997), H2AC15 (ENSG00000275221), H2AC14 (ENSG00000276368), H2AC16 (ENSG00000276903), H2AC8 (ENSG00000277075), H2AB3 (ENSG00000277745), H2AB2 (ENSG00000277858), H2AC4 (ENSG00000278463), H2AC17 (ENSG00000278677), H2AC18 (ENSG00000288825), H2AC19 (ENSG00000288859)
Protein
Protein identifiers
Histone H2A type 1 — P0C0S8 (reviewed: P0C0S8)
Alternative names: Histone H2A/ptl
All UniProt accessions (2): A4FTV9, P0C0S8
UniProt curated annotations — full annotation on UniProt →
Function. Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
Subunit / interactions. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Interacts with VRK1; the interaction is mediated by the nucleosome acidic patch, a cluster of negatively charged residues of H2A and H2B forming a cleft within the nucleosome core.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Deiminated on Arg-4 in granulocytes upon calcium entry. Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of ‘Lys-27’ of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers. Following DNA double-strand breaks (DSBs), it is ubiquitinated through ‘Lys-63’ linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and ‘Lys-63’-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend ‘Lys-63’-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired. H2AK119Ub and ionizing radiation-induced ‘Lys-63’-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events. Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
Similarity. Belongs to the histone H2A family.
RefSeq proteins (1): NP_003500* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002119 | Histone_H2A | Family |
| IPR007125 | H2A/H2B/H3 | Domain |
| IPR009072 | Histone-fold | Homologous_superfamily |
| IPR032454 | Histone_H2A_C | Domain |
| IPR032458 | Histone_H2A_CS | Conserved_site |
Pfam: PF00125, PF16211
UniProt features (63 total): modified residue 36, mutagenesis site 9, helix 6, strand 4, cross-link 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, turn 1
Structure
Experimental structures (PDB)
65 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4QYL | X-RAY DIFFRACTION | 1.8 |
| 10YE | ELECTRON MICROSCOPY | 2.5 |
| 8GUK | ELECTRON MICROSCOPY | 2.51 |
| 9Y46 | ELECTRON MICROSCOPY | 2.59 |
| 10XZ | ELECTRON MICROSCOPY | 2.6 |
| 10YA | ELECTRON MICROSCOPY | 2.7 |
| 10YC | ELECTRON MICROSCOPY | 2.7 |
| 9Y47 | ELECTRON MICROSCOPY | 2.74 |
| 10YB | ELECTRON MICROSCOPY | 2.8 |
| 10YD | ELECTRON MICROSCOPY | 2.8 |
| 7E8D | ELECTRON MICROSCOPY | 2.8 |
| 8GUJ | ELECTRON MICROSCOPY | 2.8 |
| 8GUI | ELECTRON MICROSCOPY | 2.81 |
| 9SI3 | ELECTRON MICROSCOPY | 2.83 |
| 9SJ5 | ELECTRON MICROSCOPY | 2.85 |
| 9SI9 | ELECTRON MICROSCOPY | 2.86 |
| 6X59 | ELECTRON MICROSCOPY | 2.98 |
| 7TAN | ELECTRON MICROSCOPY | 3 |
| 8VWU | ELECTRON MICROSCOPY | 3 |
| 9BE6 | ELECTRON MICROSCOPY | 3 |
| 7U51 | ELECTRON MICROSCOPY | 3.1 |
| 8QZM | ELECTRON MICROSCOPY | 3.1 |
| 8VOB | ELECTRON MICROSCOPY | 3.1 |
| 8VWS | ELECTRON MICROSCOPY | 3.1 |
| 9DWF | ELECTRON MICROSCOPY | 3.1 |
| 9E2Q | ELECTRON MICROSCOPY | 3.14 |
| 9NQU | ELECTRON MICROSCOPY | 3.16 |
| 7UV9 | ELECTRON MICROSCOPY | 3.2 |
| 9E0R | ELECTRON MICROSCOPY | 3.2 |
| 7JO9 | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0C0S8-F1 | 91.34 | 0.80 |
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 (39): 10, 10, 10, 10, 14, 14, 16, 37, 37, 37, 37, 75, 76, 96, 96, 96, 96, 96, 100, 105 …
Mutagenesis-validated functional residues (9):
| Position | Phenotype |
|---|---|
| 2 | blocks the inhibition of transcription by rps6ka5/msk1. |
| 57 | no effect on interaction with vrk1. |
| 62 | decreased interaction with vrk1. |
| 65 | decreased interaction with vrk1. |
| 73 | no effect on interaction with vrk1. |
| 90 | no effect on interaction with vrk1. |
| 91 | decreased interaction with vrk1. |
| 92 | no effect on interaction with vrk1. |
| 93 | decreased interaction with vrk1. |
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214815 | HDACs deacetylate histones |
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3214858 | RMTs methylate histone arginines |
| R-HSA-5689603 | UCH proteinases |
| R-HSA-5689880 | Ub-specific processing proteases |
| R-HSA-5689901 | Metalloprotease DUBs |
| R-HSA-9609690 | HCMV Early Events |
| R-HSA-9610379 | HCMV Late Events |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 117 (showing top):
GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, JAZAG_TGFB1_SIGNALING_DN, BROWNE_HCMV_INFECTION_14HR_DN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, FISCHER_DREAM_TARGETS, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, DANG_BOUND_BY_MYC, TTTNNANAGCYR_UNKNOWN, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, GOCC_PROTEIN_DNA_COMPLEX, BENPORATH_MYC_MAX_TARGETS, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY
GO Biological Process (1): heterochromatin formation (GO:0031507)
GO Molecular Function (5): DNA binding (GO:0003677), enzyme binding (GO:0019899), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), extracellular exosome (GO:0070062), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 3 |
| Deubiquitination | 3 |
| HCMV Infection | 2 |
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromatin | 2 |
| cellular component assembly | 1 |
| heterochromatin boundary formation | 1 |
| negative regulation of gene expression, epigenetic | 1 |
| heterochromatin organization | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| structural molecule activity | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
205 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| OPG044 | DDX3X | psi-mi:“MI:0914”(association) | 0.730 |
| TP53BP1 | H2AC11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| H2AC11 | UBB | psi-mi:“MI:0915”(physical association) | 0.650 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| RAB11B | SH3BP5 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (762): APPBP2 (Two-hybrid), NOTCH2NL (Two-hybrid), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS)
ESM2 similar proteins: A1A4R1, A9UMV8, C0HKE1, C0HKE2, C0HKE3, C0HKE4, C0HKE5, C0HKE6, C0HKE7, C0HKE8, C0HKE9, P02262, P02263, P02270, P04908, P06897, P0C0S8, P0C0S9, P0C169, P0C170, P0CC09, P13912, P19178, P20671, P21896, P27325, P35061, P35062, P70082, P84052, Q07135, Q16777, Q3ZBX9, Q4FZT6, Q4R3X5, Q64522, Q64523, Q64598, Q6FI13, Q6GSS7
Diamond homologs: A0A097I1R9, A0A097I2B5, A0A0D2UG83, A1A4R1, A1CJ10, A1D8G8, A3LXE7, A3LZZ0, A5DBG4, A5DJJ2, A5DWF1, A5DXC6, A9UMV8, C0HKE1, C0HKE2, C0HKE3, C0HKE4, C0HKE5, C0HKE6, C0HKE7, C0HKE8, C0HKE9, L7HZV6, O74268, P02262, P02263, P02264, P04908, P04909, P04910, P04911, P04912, P06897, P07793, P08844, P0C0S8, P0C0S9, P0C169, P0C170, P0C952
SIGNOR signaling
9 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPS6KA5 | up-regulates | H2AC11 | phosphorylation |
| RNF8 | up-regulates | H2AC11 | ubiquitination |
| BRCC3 | down-regulates | H2AC11 | deubiquitination |
| H2AC11 | up-regulates | RNF168 | binding |
| BUB1 | unknown | H2AC11 | phosphorylation |
| H2AC11 | “up-regulates activity” | SGO1 | relocalization |
| SLBP | “up-regulates quantity by expression” | H2AC11 | “translation regulation” |
| DZIP3 | “up-regulates activity” | H2AC11 | monoubiquitination |
| TRPM6 | “down-regulates activity” | H2AC11 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 194 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 5 | 16.1× | 2e-04 |
| Replacement of protamines by nucleosomes in the male pronucleus | 6 | 13.8× | 9e-05 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 13 | 13.0× | 1e-08 |
| Peptide chain elongation | 12 | 12.9× | 2e-08 |
| Viral mRNA Translation | 12 | 12.9× | 2e-08 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 12 | 12.8× | 2e-08 |
| Transcriptional Regulation by E2F6 | 5 | 12.4× | 6e-04 |
| Selenocysteine synthesis | 12 | 12.2× | 2e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 14 | 15.2× | 4e-10 |
| base-excision repair | 5 | 13.8× | 5e-03 |
| heterochromatin formation | 7 | 10.5× | 1e-03 |
| negative regulation of translation | 7 | 8.1× | 5e-03 |
| nucleosome assembly | 9 | 7.4× | 1e-03 |
| translation | 12 | 7.2× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
47 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:27808323:C:T | donor_gain | 0.7300 |
| 6:27808373:TGCTG:T | donor_gain | 0.6900 |
| 6:27808374:GCTGG:G | donor_gain | 0.6900 |
| 6:27808434:G:GT | donor_gain | 0.6300 |
| 6:27808322:GCAAC:G | donor_gain | 0.6100 |
| 6:27808341:C:A | donor_gain | 0.5700 |
| 6:27808231:G:GT | donor_gain | 0.5500 |
| 6:27808232:G:T | donor_gain | 0.5200 |
| 6:27808596:C:T | donor_gain | 0.5000 |
| 6:27808377:G:GT | donor_gain | 0.4900 |
| 6:27808326:C:G | donor_gain | 0.4400 |
| 6:27808481:A:G | donor_gain | 0.3800 |
| 6:27808337:G:A | donor_gain | 0.3700 |
| 6:27808290:C:G | donor_gain | 0.3400 |
| 6:27808506:C:T | donor_gain | 0.3400 |
| 6:27808528:G:GA | donor_gain | 0.3200 |
| 6:27808464:GCT:G | acceptor_gain | 0.3100 |
| 6:27808380:G:GG | donor_gain | 0.3000 |
| 6:27808527:T:TA | donor_gain | 0.3000 |
| 6:27808224:C:T | donor_gain | 0.2900 |
| 6:27808379:A:AG | donor_gain | 0.2900 |
| 6:27808291:G:GG | donor_gain | 0.2800 |
| 6:27808486:G:GT | donor_gain | 0.2600 |
| 6:27808593:GG:G | donor_gain | 0.2600 |
| 6:27808594:GG:G | donor_gain | 0.2600 |
| 6:27808236:C:T | donor_gain | 0.2500 |
| 6:27808280:TTCA:T | acceptor_gain | 0.2500 |
| 6:27808282:CAG:C | acceptor_gain | 0.2500 |
| 6:27808283:A:AT | acceptor_gain | 0.2500 |
| 6:27808232:G:GT | donor_gain | 0.2400 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1002165695 (6:27806319 A>G), RS1003461925 (6:27808757 C>A,T), RS1005508169 (6:27808238 A>G), RS1005703886 (6:27807472 A>G), RS1006594923 (6:27808065 T>C), RS1007567119 (6:27808843 T>C), RS1008268915 (6:27806917 A>C), RS1009690976 (6:27808599 G>A), RS1010751122 (6:27806846 T>C), RS1011227710 (6:27807802 C>T), RS1011512962 (6:27806563 A>G), RS1012410462 (6:27807436 C>G), RS1012425848 (6:27809078 A>G), RS1015629139 (6:27806940 C>T), RS1015722474 (6:27806661 G>A,T)
Disease associations
OMIM: gene MIM:602787 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_112 | Autism spectrum disorder or schizophrenia | 3.000000e-26 |
| GCST004521_115 | Autism spectrum disorder or schizophrenia | 3.000000e-16 |
| GCST004521_116 | Autism spectrum disorder or schizophrenia | 3.000000e-16 |
| GCST004521_166 | Autism spectrum disorder or schizophrenia | 4.000000e-24 |
| GCST004521_22 | Autism spectrum disorder or schizophrenia | 2.000000e-11 |
| GCST004521_6 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_73 | Autism spectrum disorder or schizophrenia | 8.000000e-11 |
| GCST008921_6 | Asthma and major depressive disorder | 1.000000e-09 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| sotorasib | affects cotreatment, increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| hydroxyhydroquinone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| ferrous chloride | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| phenethyl isothiocyanate | decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Ethanol | decreases expression, affects cotreatment | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Dimethyl Sulfoxide | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | affects cotreatment, decreases expression | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Lucanthone | decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Oxygen | 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.