ZNF160

zinc finger protein 160, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:53066606-53103434

Links

ENSG00000170949 ∙ NCBI:90338 ∙ OMIM:600398 ∙ HGNC:12948 ∙ Uniprot:Q9HCG1 ∙ 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 ZNF160 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF160 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				2		2
missense			44	2		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	45	4	0

Variants in ZNF160

This is a list of pathogenic ClinVar variants found in the ZNF160 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53068089-T-G		not specified	Uncertain significance (Feb 10, 2023)
19-53068093-T-C		not specified	Uncertain significance (Oct 26, 2021)
19-53068108-C-T		not specified	Uncertain significance (Nov 22, 2021)
19-53068147-T-C		not specified	Uncertain significance (May 02, 2023)
19-53068160-T-C		not specified	Uncertain significance (Nov 08, 2022)
19-53068171-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-53068192-G-A		not specified	Uncertain significance (Dec 13, 2022)
19-53068243-G-C		not specified	Uncertain significance (Jun 29, 2022)
19-53068246-C-T		not specified	Uncertain significance (Jun 22, 2024)
19-53068279-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-53068312-A-C		not specified	Uncertain significance (Jan 16, 2024)
19-53068384-C-T		not specified	Uncertain significance (Nov 22, 2021)
19-53068400-T-C		not specified	Uncertain significance (Jun 21, 2021)
19-53068411-T-C		not specified	Uncertain significance (Jan 02, 2024)
19-53068424-G-C		not specified	Uncertain significance (Jan 16, 2024)
19-53068426-T-C		not specified	Uncertain significance (Jun 21, 2021)
19-53068487-C-G		not specified	Uncertain significance (Aug 22, 2023)
19-53068600-C-A		not specified	Uncertain significance (Aug 10, 2021)
19-53068612-C-T		not specified	Uncertain significance (Jun 02, 2023)
19-53068615-C-T		not specified	Uncertain significance (Feb 14, 2024)
19-53068720-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-53068759-G-C		not specified	Uncertain significance (Aug 21, 2023)
19-53068811-C-T		not specified	Uncertain significance (Jun 07, 2024)
19-53068894-G-A		not specified	Uncertain significance (Jan 31, 2024)
19-53068927-G-C		not specified	Uncertain significance (Sep 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF160	protein_coding	protein_coding	ENST00000429604	4	36831

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0282	0.812	125739	0	5	125744	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.49	348	436	0.799	0.0000229	5450
Missense in Polyphen		119	182.17	0.65323		2305
Synonymous	-0.114	153	151	1.01	0.00000791	1462
Loss of Function	1.08	3	5.79	0.518	2.45e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.863
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.49

Haploinsufficiency Scores

• pHI: 0.169
• hipred: N
• hipred_score: 0.273
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: F11
• Phenotype: immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype

Gene ontology

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