H2AC17

H2A clustered histone 17, the group of H2A histones

Basic information

Region (hg38): 6:27892699-27893185

Previous symbols: [ "H2AFN", "HIST1H2AM" ]

Links

ENSG00000278677 ∙ NCBI:8336 ∙ OMIM:602796 ∙ HGNC:4735 ∙ Uniprot:P0C0S8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the H2AC17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the H2AC17 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in H2AC17

This is a list of pathogenic ClinVar variants found in the H2AC17 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-27892786-C-T		Multiple myeloma	Likely pathogenic (Aug 31, 2019)
6-27892811-C-G		not specified	Uncertain significance (Mar 28, 2023)
6-27892858-G-C		not specified	Uncertain significance (Nov 21, 2022)
6-27893005-G-A		not specified	Uncertain significance (Mar 22, 2022)
6-27893014-C-T		not specified	Uncertain significance (Nov 09, 2021)
6-27893022-C-T		not specified	Uncertain significance (Oct 05, 2022)
6-27893076-T-C		not specified	Uncertain significance (Dec 28, 2023)
6-27893118-G-C		not specified	Uncertain significance (Sep 01, 2021)
6-27893136-C-A		not specified	Uncertain significance (May 17, 2023)
6-27893142-C-A		not specified	Uncertain significance (Dec 16, 2023)
6-27893145-G-A		not specified	Uncertain significance (Sep 22, 2023)

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: 0.667
• rvis_EVS: -0.27
• rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

• pHI: 0.369
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Hist1h2ad