ZNF488

zinc finger protein 488, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:47365495-47384293

Links

ENSG00000265763 ∙ NCBI:118738 ∙ ∙ HGNC:23535 ∙ Uniprot:Q96MN9 ∙ 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 ZNF488 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF488 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			12	4		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	13	4	0

Variants in ZNF488

This is a list of pathogenic ClinVar variants found in the ZNF488 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-47367851-G-A		not specified	Uncertain significance (Oct 22, 2021)
10-47367895-C-T		not specified	Likely benign (Sep 29, 2023)
10-47367970-G-A		not specified	Uncertain significance (Aug 10, 2021)
10-47368021-C-A		not specified	Uncertain significance (Jul 20, 2022)
10-47368037-T-C		not specified	Uncertain significance (Dec 27, 2023)
10-47368073-A-C		not specified	Uncertain significance (Apr 07, 2023)
10-47368114-A-T		not specified	Uncertain significance (Dec 27, 2023)
10-47368136-T-C		not specified	Likely benign (Jan 18, 2023)
10-47368199-T-C		not specified	Uncertain significance (Feb 01, 2023)
10-47368247-G-A		not specified	Uncertain significance (Dec 15, 2022)
10-47368324-C-T		not specified	Uncertain significance (Aug 01, 2022)
10-47368330-G-A		not specified	Uncertain significance (Oct 25, 2023)
10-47368460-C-A		not specified	Uncertain significance (Jun 14, 2023)
10-47368466-G-A		not specified	Uncertain significance (Sep 20, 2023)
10-47368499-G-A		not specified	Likely benign (Sep 29, 2022)
10-47368499-G-C		not specified	Uncertain significance (Jul 08, 2022)
10-47368506-C-T		not specified	Uncertain significance (Feb 26, 2024)
10-47368567-G-A		not specified	Uncertain significance (Jan 16, 2024)
10-47368636-G-A		not specified	Uncertain significance (Jan 20, 2023)
10-47368666-C-T		not specified	Likely benign (Feb 28, 2023)
10-47368697-A-G		not specified	Likely benign (Feb 15, 2023)
10-47368702-C-T		not specified	Uncertain significance (Aug 21, 2023)
10-47368744-G-A		not specified	Uncertain significance (Jan 23, 2024)
10-47368795-G-A		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. Plays a role in oligodendrocyte differentiation, together with OLIG2. Mediates Notch signaling-activated formation of oligodendrocyte precursors. Promotes differentiation of adult neural stem progenitor cells (NSPCs) into mature oligodendrocytes and contributes to remyelination following nerve injury. {ECO:0000250|UniProtKB:Q5HZG9}.

Intolerance Scores

• loftool: 0.839
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.05

Haploinsufficiency Scores

• pHI: 0.148
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0669

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp488

Gene ontology

• Biological process: oligodendrocyte development
• Cellular component: nucleus
• Molecular function: DNA binding;protein binding;metal ion binding