ZNF268

zinc finger protein 268, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:133181409-133214832

Links

ENSG00000090612 ∙ NCBI:10795 ∙ OMIM:604753 ∙ HGNC:13061 ∙ Uniprot:Q14587 ∙ 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 ZNF268 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF268 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			59	4	1	64
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	59	5	1

Variants in ZNF268

This is a list of pathogenic ClinVar variants found in the ZNF268 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-133182008-G-C		not specified	Uncertain significance (May 17, 2023)
12-133182026-T-C		not specified	Uncertain significance (Feb 27, 2023)
12-133188055-A-G		not specified	Uncertain significance (Dec 01, 2022)
12-133191505-T-C		not specified	Uncertain significance (Nov 18, 2023)
12-133191952-G-A		not specified	Uncertain significance (May 27, 2022)
12-133191964-T-C		not specified	Uncertain significance (Dec 28, 2022)
12-133191987-A-G		not specified	Likely benign (May 26, 2023)
12-133202191-A-G		not specified	Uncertain significance (Jan 23, 2024)
12-133202211-G-A		not specified	Likely benign (May 23, 2023)
12-133202226-A-G		not specified	Likely benign (Dec 08, 2023)
12-133202279-A-G		not specified	Uncertain significance (Oct 06, 2021)
12-133202348-G-T		not specified	Uncertain significance (Feb 21, 2024)
12-133202374-C-A		not specified	Uncertain significance (Mar 06, 2023)
12-133202383-T-C		not specified	Uncertain significance (Dec 12, 2023)
12-133202465-A-G		not specified	Uncertain significance (Apr 04, 2023)
12-133202503-G-A		not specified	Uncertain significance (Apr 07, 2023)
12-133202525-G-A		not specified	Likely benign (Dec 27, 2023)
12-133202584-G-A		not specified	Uncertain significance (Dec 14, 2023)
12-133202643-C-T			Likely benign (Jul 01, 2022)
12-133202699-G-A		not specified	Uncertain significance (Jan 03, 2022)
12-133202785-A-G		not specified	Uncertain significance (Nov 08, 2022)
12-133202837-G-A		not specified	Uncertain significance (Nov 21, 2023)
12-133202846-C-T		not specified	Uncertain significance (Feb 07, 2023)
12-133202902-C-T		not specified	Uncertain significance (Apr 25, 2023)
12-133202928-A-T		not specified	Uncertain significance (May 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF268	protein_coding	protein_coding	ENST00000536435	5	76129

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.33e-14	0.583	125325	0	101	125426	0.000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.437	443	470	0.943	0.0000215	6220
Missense in Polyphen		160	171.52	0.93285		2326
Synonymous	0.347	158	164	0.966	0.00000774	1620
Loss of Function	1.59	26	36.4	0.715	0.00000172	516

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00127	0.00119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.000235	0.000231
European (Non-Finnish)	0.000509	0.000476
Middle Eastern	0.0000547	0.0000544
South Asian	0.000165	0.000163
Other	0.00122	0.00115

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1: Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• rvis_EVS: 1.38
• rvis_percentile_EVS: 94.57

Haploinsufficiency Scores

• pHI: 0.156
• hipred: N
• hipred_score: 0.327

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0186

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm13212

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;regulation of mitotic cell cycle;positive regulation of cell population proliferation;negative regulation of cell population proliferation;cell differentiation;positive regulation of cell migration;positive regulation of apoptotic process;negative regulation of apoptotic process;positive regulation of cell differentiation;positive regulation of transcription by RNA polymerase II;negative regulation of cell cycle arrest
• Cellular component: nucleus;cytoplasm;cytosol;actin cytoskeleton
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding