ZNF485

zinc finger protein 485, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:43606418-43617904

Links

ENSG00000198298 ∙ NCBI:220992 ∙ ∙ HGNC:23440 ∙ Uniprot:Q8NCK3 ∙ 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 ZNF485 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF485 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			23	3		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	3	0

Variants in ZNF485

This is a list of pathogenic ClinVar variants found in the ZNF485 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-43608618-C-T		not specified	Likely benign (Aug 09, 2021)
10-43608632-G-A		not specified	Uncertain significance (Jan 16, 2024)
10-43608654-G-A		not specified	Likely benign (Jul 25, 2023)
10-43608656-A-C		not specified	Uncertain significance (May 17, 2023)
10-43609255-G-A		not specified	Uncertain significance (Dec 01, 2022)
10-43609306-A-G		not specified	Uncertain significance (Apr 07, 2023)
10-43609311-T-C		not specified	Uncertain significance (Jul 13, 2022)
10-43609323-C-G		not specified	Uncertain significance (Aug 10, 2021)
10-43609327-A-G		not specified	Uncertain significance (Apr 25, 2022)
10-43616293-G-A		not specified	Uncertain significance (May 30, 2024)
10-43616359-G-A		not specified	Uncertain significance (Apr 12, 2024)
10-43616375-G-A		not specified	Uncertain significance (Jul 14, 2021)
10-43616380-A-G		not specified	Uncertain significance (Jun 10, 2024)
10-43616384-T-C		not specified	Uncertain significance (Dec 02, 2022)
10-43616432-A-G		not specified	Uncertain significance (Nov 22, 2022)
10-43616471-C-T		not specified	Uncertain significance (Jun 11, 2024)
10-43616533-G-C		not specified	Uncertain significance (Dec 07, 2021)
10-43616547-G-C		not specified	Uncertain significance (Feb 28, 2024)
10-43616577-G-T		not specified	Uncertain significance (Aug 15, 2023)
10-43616642-C-T		not specified	Uncertain significance (Jan 04, 2024)
10-43616684-A-G		not specified	Uncertain significance (Nov 10, 2022)
10-43616825-A-C		not specified	Uncertain significance (May 13, 2024)
10-43616890-T-C		not specified	Uncertain significance (Apr 17, 2023)
10-43617062-C-G		not specified	Uncertain significance (Mar 29, 2024)
10-43617095-A-G		not specified	Uncertain significance (Apr 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF485	protein_coding	protein_coding	ENST00000361807	4	11497

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000546	0.892	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.716	206	237	0.869	0.0000116	2931
Missense in Polyphen		51	69.54	0.73339		890
Synonymous	-0.975	96	84.6	1.13	0.00000423	782
Loss of Function	1.49	9	15.3	0.588	8.06e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000561	0.000561
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000545	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.0000545	0.0000544
South Asian	0.000236	0.000229
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.543
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.54

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.146
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.741

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;sequence-specific DNA binding;metal ion binding