ZNF385C

zinc finger protein 385C

Basic information

Region (hg38): 17:42025575-42098479

Links

ENSG00000187595 ∙ NCBI:201181 ∙ ∙ HGNC:33722 ∙ Uniprot:Q66K41 ∙ 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 ZNF385C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF385C 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	0

Variants in ZNF385C

This is a list of pathogenic ClinVar variants found in the ZNF385C region.

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

Position	Type	Phenotype	Significance	ClinVar
17-42028133-G-A		not specified	Uncertain significance (Jul 14, 2021)
17-42028148-T-C		not specified	Uncertain significance (Jun 18, 2021)
17-42031733-C-A		not specified	Uncertain significance (Jul 13, 2021)
17-42031775-C-T		not specified	Uncertain significance (Oct 05, 2021)
17-42037869-G-A			Likely benign (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF385C	protein_coding	protein_coding	ENST00000436535	8	39790

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000135	0.624	124486	0	16	124502	0.0000643

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.768	218	252	0.864	0.0000150	2904
Missense in Polyphen		73	86.335	0.84554		1056
Synonymous	1.20	91	107	0.852	0.00000657	987
Loss of Function	0.994	11	15.2	0.725	7.20e-7	205

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000118	0.000117
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.248
• ghis: 0.529

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.107

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp385c

Zebrafish Information Network

• Gene name: znf385c
• Affected structure: ceratohyal cartilage
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

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