H2AC12

H2A clustered histone 12, the group of H2A histones

Basic information

Region (hg38): 6:27147106-27147562

Previous symbols: [ "HIST1H2AH" ]

Links

ENSG00000274997NCBI:85235OMIM:615013HGNC:13671Uniprot:Q96KK5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the H2AC12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the H2AC12 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
19
clinvar
19
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 0 0

Variants in H2AC12

This is a list of pathogenic ClinVar variants found in the H2AC12 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-27147132-T-G not specified Uncertain significance (May 30, 2023)2552486
6-27147133-C-T not specified Uncertain significance (Oct 02, 2023)3103689
6-27147138-C-T not specified Uncertain significance (Jan 23, 2024)3103680
6-27147142-G-A not specified Uncertain significance (Jan 18, 2025)3856542
6-27147147-C-G not specified Uncertain significance (Oct 06, 2022)3103683
6-27147148-A-G not specified Uncertain significance (Jan 05, 2022)3103685
6-27147150-G-A not specified Uncertain significance (Nov 12, 2024)3103688
6-27147151-G-T not specified Uncertain significance (Mar 20, 2024)3283298
6-27147175-A-G not specified Uncertain significance (May 28, 2025)4033374
6-27147177-A-G not specified Uncertain significance (Nov 23, 2024)3523629
6-27147189-C-T not specified Uncertain significance (Mar 18, 2025)4033373
6-27147190-G-A not specified Uncertain significance (Jun 03, 2025)4033376
6-27147190-G-T not specified Uncertain significance (Mar 25, 2025)2455636
6-27147193-C-T not specified Uncertain significance (Aug 21, 2023)2591627
6-27147219-G-A not specified Uncertain significance (Oct 03, 2023)3103690
6-27147231-C-T not specified Uncertain significance (May 17, 2023)2507513
6-27147234-C-T not specified Uncertain significance (Apr 08, 2025)2455658
6-27147240-G-A not specified Uncertain significance (Sep 16, 2021)3103681
6-27147253-A-C not specified Uncertain significance (May 01, 2025)4033375
6-27147262-G-C not specified Uncertain significance (Jun 05, 2023)2556493
6-27147289-C-T not specified Uncertain significance (Mar 08, 2025)3856544
6-27147327-G-A not specified Uncertain significance (Apr 07, 2025)3103682
6-27147328-C-T not specified Uncertain significance (Jan 31, 2024)3103684
6-27147352-A-G not specified Uncertain significance (Feb 06, 2024)3103686
6-27147367-T-C not specified Uncertain significance (Feb 14, 2025)3856543

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
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.;
Pathway
Systemic lupus erythematosus - Homo sapiens (human);Necroptosis - Homo sapiens (human);Alcoholism - Homo sapiens (human);Post-translational protein modification;HDACs deacetylate histones;Metabolism of proteins;RMTs methylate histone arginines;Chromatin modifying enzymes;Metalloprotease DUBs;HATs acetylate histones;UCH proteinases;Ub-specific processing proteases;Deubiquitination;Chromatin organization (Consensus)

Intolerance Scores

loftool
0.397
rvis_EVS
-0.51
rvis_percentile_EVS
21.41

Haploinsufficiency Scores

pHI
0.972
hipred
N
hipred_score
0.215
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.997

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hist1h2ah
Phenotype

Gene ontology

Biological process
chromatin organization;biological_process
Cellular component
nucleosome;nuclear chromatin;extracellular exosome
Molecular function
molecular_function;DNA binding;protein heterodimerization activity