ZNF585B

zinc finger protein 585B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37181579-37218153

Links

ENSG00000245680 ∙ NCBI:92285 ∙ ∙ HGNC:30948 ∙ Uniprot:Q52M93 ∙ 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 ZNF585B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF585B 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				2		2
missense			47	4		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	6	0

Variants in ZNF585B

This is a list of pathogenic ClinVar variants found in the ZNF585B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37185232-C-T		not specified	Likely benign (Mar 23, 2022)
19-37185251-A-G			Likely benign (Feb 01, 2023)
19-37185271-C-T		not specified	Uncertain significance (Dec 03, 2024)
19-37185313-C-T		not specified	Uncertain significance (Jan 19, 2025)
19-37185382-C-T		not specified	Uncertain significance (Dec 09, 2023)
19-37185436-T-C		not specified	Uncertain significance (Jan 15, 2025)
19-37185619-C-T		not specified	Uncertain significance (May 27, 2022)
19-37185720-T-C		not specified	Uncertain significance (Jun 25, 2024)
19-37185744-C-A		not specified	Uncertain significance (Jan 17, 2025)
19-37185771-C-T		not specified	Uncertain significance (Feb 15, 2023)
19-37185772-G-A		not specified	Uncertain significance (Aug 02, 2024)
19-37185796-T-G		not specified	Uncertain significance (Jul 13, 2021)
19-37186019-C-A		not specified	Uncertain significance (Jun 23, 2021)
19-37186054-T-C		not specified	Uncertain significance (Jun 24, 2022)
19-37186104-C-T		not specified	Uncertain significance (Oct 12, 2024)
19-37186105-G-A		not specified	Uncertain significance (Jan 29, 2025)
19-37186140-T-A		not specified	Uncertain significance (Apr 20, 2023)
19-37186194-G-A		not specified	Uncertain significance (Jan 26, 2025)
19-37186221-T-G		not specified	Uncertain significance (May 25, 2022)
19-37186258-T-C		not specified	Likely benign (Apr 08, 2022)
19-37186259-A-C		not specified	Uncertain significance (Oct 20, 2024)
19-37186311-G-C		not specified	Uncertain significance (Dec 12, 2024)
19-37186364-G-C		not specified	Uncertain significance (Jun 30, 2023)
19-37186472-T-C		not specified	Uncertain significance (Nov 11, 2024)
19-37186537-C-A		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF585B	protein_coding	protein_coding	ENST00000532828	4	36575

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.69e-7	0.988	125463	0	284	125747	0.00113

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.503	380	409	0.930	0.0000204	5098
Missense in Polyphen		161	173.13	0.92992		2260
Synonymous	-1.08	161	145	1.11	0.00000745	1373
Loss of Function	2.29	15	28.1	0.533	0.00000144	398

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00265	0.00264
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000554	0.000554
European (Non-Finnish)	0.00159	0.00159
Middle Eastern	0.000218	0.000217
South Asian	0.000327	0.000327
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0951

Intolerance Scores

• loftool: 0.688
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.68

Haploinsufficiency Scores

• pHI: 0.187
• hipred: N
• hipred_score: 0.259
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.704

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding