ZNF780B

zinc finger protein 780B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:40028260-40056231

Previous symbols: [ "ZNF779" ]

Links

ENSG00000128000 ∙ NCBI:163131 ∙ ∙ HGNC:33109 ∙ Uniprot:Q9Y6R6 ∙ 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 ZNF780B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF780B 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			36	3		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	3	0

Variants in ZNF780B

This is a list of pathogenic ClinVar variants found in the ZNF780B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-40034409-G-C		not specified	Uncertain significance (May 29, 2024)
19-40034448-T-C		not specified	Uncertain significance (Dec 05, 2022)
19-40034482-G-A		not specified	Uncertain significance (Apr 10, 2023)
19-40034488-T-C		not specified	Uncertain significance (Dec 02, 2022)
19-40034534-A-T		not specified	Uncertain significance (Mar 15, 2024)
19-40034563-A-T		not specified	Uncertain significance (Jul 30, 2023)
19-40034611-C-T		not specified	Uncertain significance (Jan 31, 2024)
19-40034634-T-C		not specified	Uncertain significance (Oct 02, 2023)
19-40034692-T-C		not specified	Uncertain significance (Jan 24, 2024)
19-40034709-C-T		not specified	Likely benign (Jun 14, 2022)
19-40034820-C-T		not specified	Uncertain significance (Apr 04, 2024)
19-40034823-C-A		not specified	Uncertain significance (Jan 05, 2022)
19-40034971-G-A		not specified	Uncertain significance (Jun 09, 2022)
19-40035054-C-T		not specified	Uncertain significance (Mar 29, 2022)
19-40035081-G-C		not specified	Uncertain significance (May 25, 2022)
19-40035118-C-T		not specified	Uncertain significance (Jan 26, 2022)
19-40035154-C-G		not specified	Uncertain significance (Jan 10, 2023)
19-40035175-A-G		not specified	Uncertain significance (May 25, 2022)
19-40035324-C-T		not specified	Uncertain significance (May 18, 2023)
19-40035390-C-A		not specified	Uncertain significance (Aug 15, 2023)
19-40035477-A-G		not specified	Uncertain significance (Apr 17, 2024)
19-40035528-G-C		not specified	Uncertain significance (Nov 08, 2021)
19-40035553-G-T		not specified	Uncertain significance (Sep 29, 2023)
19-40035669-G-C		not specified	Uncertain significance (Jan 26, 2022)
19-40035683-T-A		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF780B	protein_coding	protein_coding	ENST00000434248	4	27950

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00326	0.622	123680	9	2054	125743	0.00824

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.408	459	435	1.05	0.0000219	5596
Missense in Polyphen		109	100.29	1.0869		1219
Synonymous	-1.09	157	141	1.12	0.00000648	1430
Loss of Function	0.468	4	5.15	0.777	2.17e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00557	0.00557
Ashkenazi Jewish	0.00796	0.00797
East Asian	0.000272	0.000272
Finnish	0.00759	0.00756
European (Non-Finnish)	0.0133	0.0133
Middle Eastern	0.000272	0.000272
South Asian	0.00389	0.00386
Other	0.00751	0.00752

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• loftool: 0.705
• rvis_EVS: 1.29
• rvis_percentile_EVS: 93.88

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.112
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.171

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp780b

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding