ZNF784

zinc finger protein 784, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:55620741-55624566

Links

ENSG00000179922 ∙ NCBI:147808 ∙ ∙ HGNC:33111 ∙ Uniprot:Q8NCA9 ∙ 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 ZNF784 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF784 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			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in ZNF784

This is a list of pathogenic ClinVar variants found in the ZNF784 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55621810-C-A		not specified	Uncertain significance (Mar 29, 2022)
19-55621833-G-C		not specified	Uncertain significance (Dec 26, 2023)
19-55621842-G-T		not specified	Uncertain significance (Feb 05, 2024)
19-55621845-G-A		not specified	Uncertain significance (Jun 02, 2023)
19-55621854-C-G		not specified	Likely benign (Dec 15, 2022)
19-55621890-G-A		not specified	Uncertain significance (Jul 12, 2022)
19-55621891-G-A		not specified	Uncertain significance (Jun 01, 2023)
19-55622002-C-T		not specified	Uncertain significance (Oct 17, 2023)
19-55622140-G-C		not specified	Uncertain significance (Dec 28, 2022)
19-55622173-C-G		not specified	Uncertain significance (Jun 05, 2024)
19-55622196-G-A		not specified	Uncertain significance (Sep 12, 2023)
19-55622224-C-T		not specified	Uncertain significance (Aug 17, 2021)
19-55622226-G-A		not specified	Uncertain significance (Apr 20, 2023)
19-55622233-T-G		not specified	Uncertain significance (May 24, 2024)
19-55622266-C-T		not specified	Uncertain significance (Dec 21, 2022)
19-55622268-C-T		not specified	Uncertain significance (Aug 30, 2021)
19-55622347-C-T		not specified	Uncertain significance (Nov 15, 2021)
19-55622407-A-C		not specified	Uncertain significance (Mar 15, 2024)
19-55622440-C-T		not specified	Uncertain significance (Jun 16, 2024)
19-55622526-T-C		not specified	Uncertain significance (Aug 12, 2021)
19-55622548-G-T		not specified	Uncertain significance (Jul 13, 2022)
19-55622563-T-C		not specified	Uncertain significance (Feb 05, 2024)
19-55624503-G-T		not specified	Uncertain significance (May 23, 2023)
19-55624509-G-A		not specified	Uncertain significance (Sep 27, 2021)
19-55624515-G-A		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF784	protein_coding	protein_coding	ENST00000325351	2	3860

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.829	0.168	124769	0	4	124773	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.744	189	220	0.859	0.0000163	2003
Missense in Polyphen		80	101.25	0.79015		954
Synonymous	1.87	79	103	0.766	0.00000836	696
Loss of Function	2.23	0	5.82	0.00	3.33e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000615	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.00000906	0.00000889
Middle Eastern	0.0000615	0.0000545
South Asian	0.0000660	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.272
• ghis: 0.511

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.705

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp784

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;sequence-specific DNA binding;metal ion binding