ZNF383

zinc finger protein 383, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37217926-37248740

Links

ENSG00000188283 ∙ NCBI:163087 ∙ OMIM:619499 ∙ HGNC:18609 ∙ Uniprot:Q8NA42 ∙ 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 ZNF383 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF383 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						0
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	1	0

Variants in ZNF383

This is a list of pathogenic ClinVar variants found in the ZNF383 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37235574-C-T		not specified	Uncertain significance (Jun 08, 2022)
19-37235629-A-T		not specified	Uncertain significance (Feb 07, 2025)
19-37235672-A-G		not specified	Likely benign (Dec 02, 2024)
19-37235990-C-T		not specified	Uncertain significance (Aug 21, 2024)
19-37236009-C-G		not specified	Uncertain significance (Jan 23, 2025)
19-37242476-A-C		not specified	Uncertain significance (Dec 04, 2024)
19-37242478-C-T		not specified	Uncertain significance (Sep 17, 2021)
19-37242497-A-C		not specified	Uncertain significance (Mar 15, 2024)
19-37242502-C-T		not specified	Uncertain significance (Aug 08, 2023)
19-37242508-A-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
19-37242543-G-A		not specified	Uncertain significance (Oct 09, 2024)
19-37242543-G-C		not specified	Uncertain significance (Apr 15, 2024)
19-37242582-A-G		not specified	Uncertain significance (Sep 27, 2022)
19-37242678-A-G		not specified	Uncertain significance (Aug 14, 2024)
19-37242684-A-G		not specified	Uncertain significance (Nov 25, 2024)
19-37242802-A-G		not specified	Uncertain significance (Aug 02, 2023)
19-37242837-A-G		not specified	Uncertain significance (Dec 01, 2022)
19-37242879-C-T		not specified	Uncertain significance (Aug 22, 2022)
19-37242994-C-T		not specified	Uncertain significance (Dec 21, 2022)
19-37243026-A-G		not specified	Uncertain significance (Oct 28, 2024)
19-37243045-T-C		not specified	Uncertain significance (Jun 29, 2023)
19-37243089-A-G		not specified	Uncertain significance (Aug 02, 2021)
19-37243171-G-A		not specified	Uncertain significance (Dec 18, 2023)
19-37243246-C-G		not specified	Uncertain significance (Jun 01, 2023)
19-37243297-C-A		not specified	Uncertain significance (Oct 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF383	protein_coding	protein_coding	ENST00000589413	4	26001

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.66e-11	0.173	125685	0	63	125748	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	204	251	0.813	0.0000118	3170
Missense in Polyphen		74	112.97	0.65504		1444
Synonymous	0.960	75	86.4	0.869	0.00000425	818
Loss of Function	0.674	18	21.4	0.843	0.00000114	281

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000499	0.000499
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000353	0.000352
Middle Eastern	0.000163	0.000163
South Asian	0.0000655	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways. {ECO:0000269|PubMed:15964543}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0972

Intolerance Scores

• loftool: 0.625
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.239
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.648

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp383

Gene ontology

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