ASF1B

anti-silencing function 1B histone chaperone

Basic information

Region (hg38): 19:14119512-14136613

Links

ENSG00000105011 ∙ NCBI:55723 ∙ OMIM:609190 ∙ HGNC:20996 ∙ Uniprot:Q9NVP2 ∙ 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 ASF1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASF1B 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in ASF1B

This is a list of pathogenic ClinVar variants found in the ASF1B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14120464-T-C		not specified	Uncertain significance (Aug 12, 2021)
19-14120542-G-A		not specified	Uncertain significance (Oct 27, 2021)
19-14120595-T-A		not specified	Uncertain significance (Jul 08, 2022)
19-14120607-T-C		not specified	Uncertain significance (Feb 28, 2023)
19-14120608-C-T		not specified	Uncertain significance (Feb 28, 2023)
19-14120635-G-A		not specified	Uncertain significance (Apr 07, 2023)
19-14120638-G-A		not specified	Uncertain significance (Aug 08, 2022)
19-14121557-G-A		not specified	Uncertain significance (Sep 06, 2022)
19-14121606-C-T		not specified	Uncertain significance (Apr 28, 2023)
19-14121636-T-C		not specified	Uncertain significance (Feb 15, 2023)
19-14121687-G-C		not specified	Uncertain significance (Aug 12, 2021)
19-14121705-C-T		not specified	Uncertain significance (May 10, 2024)
19-14126160-C-T		not specified	Uncertain significance (Jan 26, 2023)
19-14126194-C-G		not specified	Uncertain significance (Jan 23, 2024)
19-14136351-C-T		not specified	Uncertain significance (Dec 26, 2023)
19-14136389-C-A		not specified	Uncertain significance (Apr 19, 2023)
19-14136449-T-C		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASF1B	protein_coding	protein_coding	ENST00000263382	4	17448

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000633	0.494	125727	0	20	125747	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.457	110	124	0.885	0.00000692	1334
Missense in Polyphen		27	42.937	0.62882		475
Synonymous	0.172	50	51.6	0.970	0.00000307	401
Loss of Function	0.464	7	8.46	0.828	4.47e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000807	0.0000791
Middle Eastern	0.000109	0.000109
South Asian	0.000198	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly. Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA. Required for spermatogenesis. {ECO:0000269|PubMed:11897662, ECO:0000269|PubMed:12842904, ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:15664198, ECO:0000269|PubMed:16151251}.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.290
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.909
• hipred: Y
• hipred_score: 0.723
• ghis: 0.702

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.994

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asf1b

Gene ontology

• Biological process: blastocyst hatching;DNA replication-dependent nucleosome assembly;DNA replication-independent nucleosome assembly;spermatogenesis;cell differentiation
• Cellular component: nuclear chromatin;nucleoplasm;protein-containing complex
• Molecular function: protein binding;histone binding