ZNF106

zinc finger protein 106, the group of Zinc fingers C2H2-type|WD repeat domain containing

Basic information

Region (hg38): 15:42412822-42491141

Previous symbols: [ "ZFP106" ]

Links

ENSG00000103994 ∙ NCBI:64397 ∙ ∙ HGNC:12886 ∙ Uniprot:Q9H2Y7 ∙ 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 ZNF106 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF106 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			85	8	1	94
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	85	9	1

Variants in ZNF106

This is a list of pathogenic ClinVar variants found in the ZNF106 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-42417798-A-C			Benign (Aug 03, 2017)
15-42417866-G-A		not specified	Uncertain significance (Jan 23, 2023)
15-42417924-C-T		not specified	Uncertain significance (Dec 06, 2021)
15-42421974-T-G		not specified	Uncertain significance (Apr 25, 2022)
15-42422554-T-C		not specified	Uncertain significance (Sep 26, 2023)
15-42424005-T-C		not specified	Uncertain significance (Jun 17, 2024)
15-42424871-G-T		not specified	Uncertain significance (Mar 21, 2024)
15-42424892-C-T		not specified	Uncertain significance (Dec 20, 2021)
15-42424919-T-C		not specified	Uncertain significance (Dec 09, 2023)
15-42424994-T-C		not specified	Uncertain significance (Jan 06, 2023)
15-42425015-C-A		not specified	Uncertain significance (Mar 25, 2024)
15-42428023-T-C		not specified	Uncertain significance (Apr 08, 2024)
15-42428070-C-A		not specified	Uncertain significance (Oct 10, 2023)
15-42428070-C-T		not specified	Uncertain significance (Jun 01, 2023)
15-42428088-C-A		not specified	Uncertain significance (Feb 15, 2023)
15-42428124-C-G		not specified	Uncertain significance (Dec 05, 2022)
15-42428124-C-T		not specified	Uncertain significance (Dec 19, 2022)
15-42435411-G-C		not specified	Uncertain significance (Mar 28, 2024)
15-42435462-C-G			Likely benign (Sep 01, 2022)
15-42435503-C-G		not specified	Uncertain significance (Feb 27, 2024)
15-42435506-T-C		not specified	Likely benign (Jul 14, 2021)
15-42435515-G-A		not specified	Uncertain significance (May 28, 2024)
15-42439057-C-T		not specified	Uncertain significance (Oct 25, 2023)
15-42439166-G-C		not specified	Uncertain significance (Dec 15, 2022)
15-42439330-C-G		not specified	Uncertain significance (Jul 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF106	protein_coding	protein_coding	ENST00000263805	19	78301

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000105	1.00	125698	0	49	125747	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.11	907	1.01e+3	0.902	0.0000546	12379
Missense in Polyphen		277	373.94	0.74076		4407
Synonymous	0.369	358	367	0.975	0.0000192	3668
Loss of Function	6.18	25	87.3	0.286	0.00000542	969

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000385	0.000385
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000326	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.000326	0.000326
South Asian	0.000175	0.000163
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.01

Haploinsufficiency Scores

• pHI: 0.288
• hipred: N
• hipred_score: 0.400
• ghis: 0.526

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp106
• Phenotype: growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; 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); reproductive 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); immune system phenotype

Gene ontology

• Biological process: insulin receptor signaling pathway
• Cellular component: nucleolus;cytosol;membrane;nuclear speck
• Molecular function: RNA binding;SH3 domain binding;metal ion binding