ZNF280C

zinc finger protein 280C, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): X:130202707-130268899

Previous symbols: [ "SUHW3" ]

Links

ENSG00000056277 ∙ NCBI:55609 ∙ ∙ HGNC:25955 ∙ Uniprot:Q8ND82 ∙ 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 ZNF280C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF280C 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			31	5		36
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	6	0

Variants in ZNF280C

This is a list of pathogenic ClinVar variants found in the ZNF280C region.

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

Position	Type	Phenotype	Significance	ClinVar
X-130204981-T-G		not specified	Uncertain significance (May 02, 2024)
X-130205136-T-C		not specified	Uncertain significance (Jan 22, 2025)
X-130205356-C-T		not specified	Uncertain significance (May 16, 2023)
X-130205366-C-T		not specified	Uncertain significance (Mar 13, 2023)
X-130209683-C-T		not specified	Likely benign (Jan 17, 2025)
X-130209690-G-A		not specified	Uncertain significance (Jan 31, 2025)
X-130209713-G-C		not specified	Uncertain significance (Dec 03, 2024)
X-130215263-T-C		not specified	Uncertain significance (May 31, 2022)
X-130215274-C-T		not specified	Uncertain significance (Dec 15, 2023)
X-130215277-G-A		not specified	Uncertain significance (Nov 19, 2022)
X-130215326-G-A		not specified	Likely benign (Nov 21, 2023)
X-130215834-G-A		not specified	Uncertain significance (Oct 05, 2023)
X-130215839-C-T		not specified	Uncertain significance (Mar 07, 2024)
X-130215879-T-C		not specified	Uncertain significance (Oct 30, 2023)
X-130215929-G-T		not specified	Uncertain significance (Jan 18, 2025)
X-130215957-T-G		not specified	Uncertain significance (Sep 06, 2022)
X-130215994-T-A		not specified	Uncertain significance (Dec 10, 2024)
X-130216001-G-A		not specified	Uncertain significance (Mar 23, 2022)
X-130216004-G-A		not specified	Uncertain significance (Sep 20, 2024)
X-130216038-C-T		not specified	Likely benign (Apr 21, 2022)
X-130220407-G-A		not specified	Uncertain significance (Nov 10, 2024)
X-130226770-T-A		not specified	Uncertain significance (Jun 01, 2023)
X-130226865-G-C		not specified	Uncertain significance (Nov 10, 2022)
X-130226883-G-A		not specified	Uncertain significance (Apr 28, 2022)
X-130228991-G-T		not specified	Uncertain significance (Aug 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF280C	protein_coding	protein_coding	ENST00000370978	18	66189

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00101	113705	1	0	113706	0.00000440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	190	260	0.730	0.0000189	4881
Missense in Polyphen		18	68.973	0.26097		1396
Synonymous	0.0892	87	88.1	0.988	0.00000647	1325
Loss of Function	4.39	1	24.4	0.0410	0.00000167	516

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000794	0.0000657
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcription factor.

Intolerance Scores

• loftool: 0.0852
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.36

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.380
• ghis: 0.573

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0299

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp280c

Gene ontology

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