ZNF384

zinc finger protein 384, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:6666476-6689572

Previous symbols: [ "TNRC1" ]

Links

ENSG00000126746 ∙ NCBI:171017 ∙ OMIM:609951 ∙ HGNC:11955 ∙ Uniprot:Q8TF68 ∙ 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 ZNF384 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF384 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	2	0

Variants in ZNF384

This is a list of pathogenic ClinVar variants found in the ZNF384 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-6667774-C-G		not specified	Uncertain significance (Dec 01, 2022)
12-6667787-G-A		not specified	Uncertain significance (Aug 09, 2021)
12-6667798-C-T			Likely benign (Jul 01, 2022)
12-6667829-G-A		not specified	Uncertain significance (Apr 29, 2024)
12-6667853-C-T		not specified	Uncertain significance (Mar 24, 2023)
12-6667896-G-A		not specified	Uncertain significance (Sep 29, 2022)
12-6667939-C-A		not specified	Uncertain significance (Nov 09, 2023)
12-6667974-C-G		not specified	Uncertain significance (Mar 21, 2022)
12-6668018-T-A		not specified	Uncertain significance (Mar 01, 2024)
12-6668060-T-C		not specified	Uncertain significance (Nov 03, 2023)
12-6668090-C-T		not specified	Uncertain significance (Jan 09, 2024)
12-6668103-T-C		not specified	Uncertain significance (Nov 17, 2022)
12-6669132-C-T		not specified	Uncertain significance (Jul 05, 2022)
12-6669147-G-A		not specified	Uncertain significance (May 08, 2024)
12-6669179-C-T		not specified	Uncertain significance (Mar 08, 2024)
12-6672461-T-G		not specified	Uncertain significance (Jan 26, 2022)
12-6672502-G-C		not specified	Uncertain significance (Mar 28, 2024)
12-6672503-A-G		not specified	Uncertain significance (Aug 28, 2023)
12-6672504-T-C		not specified	Uncertain significance (May 27, 2022)
12-6673313-C-T		not specified	Uncertain significance (Sep 12, 2023)
12-6678140-C-T		not specified	Uncertain significance (Aug 30, 2021)
12-6678238-C-T		not specified	Uncertain significance (Jan 18, 2023)
12-6678260-T-C		not specified	Uncertain significance (Dec 14, 2023)
12-6678294-G-A			Likely benign (Mar 01, 2023)
12-6678299-G-T		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF384	protein_coding	protein_coding	ENST00000396801	9	23096

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00158	125742	0	4	125746	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.44	212	338	0.627	0.0000193	3746
Missense in Polyphen		59	140.71	0.4193		1536
Synonymous	-1.42	159	138	1.15	0.00000827	1151
Loss of Function	4.52	2	27.6	0.0724	0.00000128	315

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000917	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.197
• rvis_EVS: -0.78
• rvis_percentile_EVS: 12.88

Haploinsufficiency Scores

• pHI: 0.404
• hipred: Y
• hipred_score: 0.662
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.998

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp384
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

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