ZNF260

zinc finger protein 260, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:36510687-36528271

Links

ENSG00000254004

∙ NCBI:339324 ∙ OMIM:613749 ∙ HGNC:13499 ∙ Uniprot:Q3ZCT1 ∙ 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 ZNF260 gene.

not_specified (50 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF260 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001166037.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			50 clinvar			50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF260	protein_coding	protein_coding	ENST00000523638	1	17966

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000602	0.722	125707	0	29	125736	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.612	179	204	0.879	0.00000939	2771
Missense in Polyphen		74	88.689	0.83438		1266
Synonymous	-0.0353	69	68.6	1.01	0.00000329	702
Loss of Function	1.01	8	11.7	0.683	6.56e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000456	0.000456
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000106
Middle Eastern	0.000163	0.000163
South Asian	0.0000980	0.0000980
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling. Binds to PE response elements (PERE) present in the promoter of genes such as ANF/NPPA and acts as a direct transcriptional activator of NPPA. Also acts as a cofactor with GATA4, a key cardiac regulator (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.102

Intolerance Scores

loftool: 0.590
rvis_EVS: -0.36
rvis_percentile_EVS: 28.93

Haploinsufficiency Scores

pHI: 0.262
hipred: N
hipred_score: 0.248
ghis: 0.645

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Zfp260
Phenotype: homeostasis/metabolism phenotype;

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;multicellular organism development
Cellular component: nucleoplasm;cytosol
Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding