H1-9P

H1.9 linker histone, pseudogene, the group of H1 histones

Basic information

Region (hg38): 17:50171514-50171936

Previous symbols: [ "HILS1", "H1-9" ]

Links

ENSG00000188662 ∙ NCBI:373861 ∙ OMIM:608101 ∙ HGNC:30616 ∙ Uniprot:P60008 ∙ 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 H1-9P gene.

• Autosomal recessive limb-girdle muscular dystrophy type 2D (66 variants)
• not provided (21 variants)
• Sarcoglycanopathy (9 variants)
• not specified (5 variants)
• Inborn genetic diseases (3 variants)
• Cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the H1-9P 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		4	38	32	6	80
Total	0	4	38	32	6

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA-binding protein that may be implicated in chromatin remodeling and/or transcriptional regulation during spermiogenesis, the process of spermatid maturation into spermatozoa.

Haploinsufficiency Scores

• pHI: 0.0604

Mouse Genome Informatics

• Gene name: Hils1

Gene ontology

• Biological process: nucleosome assembly;chromatin remodeling;chromatin silencing;regulation of transcription, DNA-templated;multicellular organism development;germ cell development;spermatogenesis;nucleosome positioning;chromosome condensation;negative regulation of chromatin silencing;negative regulation of DNA recombination
• Cellular component: nucleosome;male germ cell nucleus;nucleus
• Molecular function: nucleic acid binding;double-stranded DNA binding;protein binding;nucleosomal DNA binding;histone binding