ZNF385B

zinc finger protein 385B, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 2:179441981-179861612

Previous symbols: [ "ZNF533" ]

Links

ENSG00000144331 ∙ NCBI:151126 ∙ OMIM:612344 ∙ HGNC:26332 ∙ Uniprot:Q569K4 ∙ 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 ZNF385B gene.

• Inborn genetic diseases (13 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF385B 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				1	3	4
missense			13		1	14
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	14	1	4

Variants in ZNF385B

This is a list of pathogenic ClinVar variants found in the ZNF385B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-179443283-G-A			Benign (Dec 31, 2019)
2-179443285-C-T		not specified	Uncertain significance (Aug 12, 2021)
2-179443336-C-A		not specified	Uncertain significance (Apr 18, 2023)
2-179443444-T-C		not specified	Uncertain significance (Jun 30, 2023)
2-179444889-G-C		not specified	Uncertain significance (Dec 08, 2023)
2-179444937-T-A		not specified	Uncertain significance (Aug 10, 2021)
2-179444941-C-T		not specified	Uncertain significance (Apr 05, 2023)
2-179444981-A-G			Benign (Dec 31, 2019)
2-179445626-C-G		not specified	Uncertain significance (Apr 05, 2023)
2-179445681-T-C		not specified	Uncertain significance (Oct 29, 2021)
2-179446602-T-C		not specified	Uncertain significance (Jan 04, 2024)
2-179446657-G-C		not specified	Uncertain significance (Jan 04, 2024)
2-179446666-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-179446695-G-C		not specified	Uncertain significance (Jun 28, 2023)
2-179446696-A-C		not specified	Uncertain significance (Jan 08, 2024)
2-179446737-C-T		not specified	Uncertain significance (Jan 09, 2024)
2-179483319-G-A		not specified	Uncertain significance (Aug 22, 2023)
2-179483386-T-A			Uncertain significance (Oct 30, 2019)
2-179483388-A-G		not specified	Uncertain significance (May 16, 2023)
2-179518541-C-T		not specified	Uncertain significance (May 31, 2023)
2-179544967-T-C		not specified	Uncertain significance (Jun 22, 2023)
2-179769508-C-A			Benign (Dec 31, 2019)
2-179769545-G-A		not specified	Uncertain significance (Jul 12, 2023)
2-179769570-C-T			Likely benign (Mar 29, 2018)
2-179769594-G-A			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF385B	protein_coding	protein_coding	ENST00000410066	8	419524

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00110	0.990	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.721	229	262	0.875	0.0000138	3071
Missense in Polyphen		72	105.64	0.68157		1337
Synonymous	-0.320	105	101	1.04	0.00000554	952
Loss of Function	2.28	8	18.6	0.429	0.00000104	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000478	0.0000462
European (Non-Finnish)	0.0000622	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in p53/TP53-mediated apoptosis. {ECO:0000269|PubMed:22945289}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.700
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• pHI: 0.603
• hipred: Y
• hipred_score: 0.554
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.408

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp385b

Gene ontology

• Biological process: intrinsic apoptotic signaling pathway by p53 class mediator
• Cellular component: fibrillar center;nucleus
• Molecular function: p53 binding;nucleic acid binding;zinc ion binding