ZNF184

zinc finger protein 184, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:27450742-27473118

Links

ENSG00000096654 ∙ NCBI:7738 ∙ OMIM:602277 ∙ HGNC:12975 ∙ Uniprot:Q99676 ∙ 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 ZNF184 gene.

• Inborn genetic diseases (20 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF184 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 ZNF184

This is a list of pathogenic ClinVar variants found in the ZNF184 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-27451411-G-C		not specified	Uncertain significance (Feb 22, 2023)
6-27451445-T-C		not specified	Uncertain significance (Jun 21, 2022)
6-27451518-G-A		not specified	Uncertain significance (Aug 12, 2021)
6-27451555-C-T			Benign (Dec 31, 2019)
6-27451610-G-A		not specified	Uncertain significance (Jan 10, 2022)
6-27451659-T-G		not specified	Uncertain significance (Oct 02, 2023)
6-27451661-T-G		not specified	Uncertain significance (Feb 06, 2023)
6-27451689-G-C		not specified	Uncertain significance (Apr 27, 2022)
6-27451734-T-C		not specified	Uncertain significance (Apr 25, 2022)
6-27452117-T-C		not specified	Uncertain significance (May 09, 2023)
6-27452129-T-C		not specified	Uncertain significance (Sep 01, 2021)
6-27452189-T-C		not specified	Uncertain significance (Feb 07, 2023)
6-27452283-C-T		not specified	Uncertain significance (Nov 12, 2021)
6-27452540-C-T		not specified	Uncertain significance (Sep 01, 2021)
6-27452658-T-G		not specified	Uncertain significance (Nov 15, 2021)
6-27452730-G-T		not specified	Uncertain significance (May 24, 2023)
6-27452801-T-C		not specified	Uncertain significance (Aug 22, 2023)
6-27452870-G-C		not specified	Uncertain significance (Aug 02, 2021)
6-27452931-T-C		not specified	Uncertain significance (Mar 02, 2023)
6-27452945-G-A		not specified	Uncertain significance (Aug 02, 2023)
6-27453002-C-T		not specified	Uncertain significance (Jan 23, 2024)
6-27453243-C-G		not specified	Uncertain significance (Jan 16, 2024)
6-27456841-C-T		not specified	Uncertain significance (Oct 27, 2023)
6-27456863-C-A		not specified	Uncertain significance (Jun 28, 2022)
6-27457372-G-T		Malignant tumor of prostate	Uncertain significance (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF184	protein_coding	protein_coding	ENST00000211936	5	22376

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00368	0.996	125725	0	19	125744	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.51	252	392	0.644	0.0000187	5022
Missense in Polyphen		100	184.61	0.54168		2354
Synonymous	1.26	116	135	0.862	0.00000646	1316
Loss of Function	3.46	10	30.7	0.326	0.00000156	412

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000300	0.000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000529	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000980	0.0000980
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.381
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Haploinsufficiency Scores

• pHI: 0.215
• hipred: Y
• hipred_score: 0.520
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Zfp184
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

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;zinc ion binding