ZNF385D

zinc finger protein 385D

Basic information

Region (hg38): 3:21412217-22373321

Previous symbols: [ "ZNF659" ]

Links

ENSG00000151789 ∙ NCBI:79750 ∙ ∙ HGNC:26191 ∙ Uniprot:Q9H6B1 ∙ 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 ZNF385D gene.

• Inborn genetic diseases (20 variants)
• Normal pregnancy (1 variants)
• not provided (1 variants)
• Small for gestational age (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF385D 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	1
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	1

Variants in ZNF385D

This is a list of pathogenic ClinVar variants found in the ZNF385D region.

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

Position	Type	Phenotype	Significance	ClinVar
3-21421240-T-C		not specified	Uncertain significance (Aug 06, 2021)
3-21421276-G-T		not specified	Uncertain significance (Mar 16, 2022)
3-21421338-A-C		not specified	Uncertain significance (Nov 29, 2023)
3-21421356-A-G		not specified	Uncertain significance (Oct 06, 2021)
3-21421372-C-T		not specified	Uncertain significance (May 08, 2023)
3-21423995-T-C		not specified	Uncertain significance (Jan 03, 2024)
3-21424063-T-G		not specified	Uncertain significance (Jun 10, 2022)
3-21425580-A-G		not specified	Uncertain significance (Dec 14, 2023)
3-21425658-T-G		not specified	Uncertain significance (Aug 30, 2021)
3-21436984-T-G		not specified	Uncertain significance (Aug 30, 2021)
3-21437054-C-T		not specified	Uncertain significance (Jan 31, 2024)
3-21437092-G-A		not specified	Uncertain significance (May 10, 2023)
3-21437137-A-G		not specified	Uncertain significance (Nov 06, 2023)
3-21437146-C-G		not specified	Uncertain significance (Sep 29, 2022)
3-21437153-G-A		not specified	Uncertain significance (Oct 03, 2022)
3-21510872-G-A		not specified	Uncertain significance (Aug 13, 2021)
3-21510900-T-C		not specified	Uncertain significance (Nov 06, 2023)
3-21510920-G-A		not specified	Uncertain significance (Jan 23, 2024)
3-21510921-C-A		not specified	Uncertain significance (Sep 20, 2023)
3-21510995-G-A		not specified	Uncertain significance (Sep 30, 2021)
3-21511013-G-A		not specified	Uncertain significance (Jan 30, 2024)
3-21564601-G-T		not specified	Uncertain significance (Jun 30, 2022)
3-21564615-T-A		not specified	Uncertain significance (Jan 29, 2024)
3-21564619-C-T			Benign (Dec 31, 2019)
3-21564626-C-T		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF385D	protein_coding	protein_coding	ENST00000281523	8	954898

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.654	0.345	125742	0	4	125746	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.628	203	230	0.883	0.0000128	2552
Missense in Polyphen		62	94.689	0.65478		1114
Synonymous	-1.40	108	91.0	1.19	0.00000558	828
Loss of Function	3.08	3	16.5	0.182	9.17e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000471	0.0000462
European (Non-Finnish)	0.0000272	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.377
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.36

Haploinsufficiency Scores

• pHI: 0.896
• hipred: Y
• hipred_score: 0.540
• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.243

Gene Damage Prediction

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

Gene ontology

• Cellular component: nucleus
• Molecular function: nucleic acid binding;zinc ion binding