ZNF165

zinc finger protein 165, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 6:28080568-28089563

Links

ENSG00000197279 ∙ NCBI:7718 ∙ OMIM:600834 ∙ HGNC:12953 ∙ Uniprot:P49910 ∙ 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 ZNF165 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF165 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in ZNF165

This is a list of pathogenic ClinVar variants found in the ZNF165 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-28085559-G-A		not specified	Uncertain significance (Jan 23, 2024)
6-28085598-A-G		not specified	Uncertain significance (Sep 21, 2023)
6-28085616-G-A		not specified	Uncertain significance (Jun 13, 2024)
6-28085661-C-T		not specified	Uncertain significance (Nov 08, 2022)
6-28085670-C-G		not specified	Uncertain significance (Dec 15, 2023)
6-28085686-G-A		not specified	Uncertain significance (Aug 13, 2021)
6-28085770-T-C		not specified	Uncertain significance (Jun 30, 2022)
6-28086289-C-T		not specified	Uncertain significance (Oct 10, 2023)
6-28088751-C-T		not specified	Uncertain significance (May 30, 2024)
6-28088992-A-G		not specified	Uncertain significance (Sep 15, 2021)
6-28089000-A-G		not specified	Uncertain significance (Aug 22, 2023)
6-28089049-G-A		not specified	Uncertain significance (Apr 04, 2024)
6-28089057-T-A		not specified	Uncertain significance (Feb 06, 2023)
6-28089104-A-C		not specified	Uncertain significance (Apr 01, 2024)
6-28089163-G-A		not specified	Uncertain significance (Jun 03, 2022)
6-28089183-C-T		not specified	Uncertain significance (Dec 06, 2021)
6-28089187-G-A		not specified	Uncertain significance (Feb 16, 2023)
6-28089241-A-G		not specified	Likely benign (May 27, 2022)
6-28089346-G-A		not specified	Uncertain significance (Aug 04, 2023)
6-28089393-T-C		not specified	Uncertain significance (Dec 20, 2023)
6-28089423-C-G		not specified	Uncertain significance (Dec 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF165	protein_coding	protein_coding	ENST00000377325	3	8589

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.11e-9	0.505	125668	0	80	125748	0.000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.731	218	251	0.870	0.0000118	3219
Missense in Polyphen		53	71.28	0.74354		948
Synonymous	1.25	74	89.0	0.832	0.00000424	883
Loss of Function	1.04	15	20.0	0.749	0.00000108	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000387	0.000387
Ashkenazi Jewish	0.00	0.00
East Asian	0.00175	0.00174
Finnish	0.00	0.00
European (Non-Finnish)	0.000238	0.000237
Middle Eastern	0.00175	0.00174
South Asian	0.000427	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0921

Intolerance Scores

• loftool: 0.703
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.255
• hipred: N
• hipred_score: 0.148
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.977

Gene Damage Prediction

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

Gene ontology

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