ZNF107

zinc finger protein 107, the group of Zinc fingers C2H2-type|MicroRNA protein coding host genes

Basic information

Region (hg38): 7:64666099-64711577

Previous symbols: [ "ZNF588" ]

Links

ENSG00000196247 ∙ NCBI:51427 ∙ OMIM:603989 ∙ HGNC:12887 ∙ Uniprot:Q9UII5 ∙ 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 ZNF107 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF107 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	3	5
missense			30	8	2	40
nonsense						0
start loss						0
frameshift					2	2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	10	7

Variants in ZNF107

This is a list of pathogenic ClinVar variants found in the ZNF107 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-64691884-A-G			Likely benign (Dec 31, 2019)
7-64706375-A-T		not specified	Uncertain significance (Feb 05, 2024)
7-64706407-G-A		not specified	Uncertain significance (Jun 28, 2022)
7-64706432-A-G		not specified	Uncertain significance (Jun 07, 2024)
7-64706443-G-A		not specified	Uncertain significance (Jan 26, 2022)
7-64706447-G-A		not specified	Likely benign (Mar 03, 2022)
7-64706461-G-A		not specified	Uncertain significance (May 20, 2024)
7-64706468-C-T		not specified	Likely benign (Oct 27, 2023)
7-64706501-A-G		not specified	Uncertain significance (Jul 20, 2021)
7-64706572-A-G		not specified	Uncertain significance (May 17, 2023)
7-64706647-G-A		not specified	Likely benign (Sep 22, 2023)
7-64706698-T-C		not specified	Uncertain significance (Jun 11, 2021)
7-64706753-A-G		not specified	Uncertain significance (May 31, 2023)
7-64706849-A-G		not specified	Uncertain significance (Sep 14, 2022)
7-64706849-A-T		not specified	Uncertain significance (Apr 26, 2023)
7-64706867-A-G		not specified	Likely benign (Mar 21, 2023)
7-64706942-A-G		not specified	Uncertain significance (Mar 02, 2023)
7-64706984-A-T		not specified	Uncertain significance (Dec 19, 2023)
7-64707124-T-G			Likely benign (Jul 23, 2018)
7-64707143-C-G		not specified	Likely benign (Mar 20, 2023)
7-64707151-A-G		not specified	Uncertain significance (Mar 01, 2024)
7-64707162-C-A		not specified	Uncertain significance (Feb 17, 2023)
7-64707197-A-G		not specified	Uncertain significance (Jul 05, 2023)
7-64707224-A-G		not specified	Uncertain significance (Sep 27, 2021)
7-64707341-A-G		not specified	Uncertain significance (Jul 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF107	protein_coding	protein_coding	ENST00000395391	2	44894

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0212	0.539	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.524	408	379	1.08	0.0000171	5174
Missense in Polyphen		111	113.26	0.98003		1644
Synonymous	0.120	130	132	0.987	0.00000602	1344
Loss of Function	-0.203	2	1.71	1.17	7.08e-8	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
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.

Intolerance Scores

• loftool: 0.961
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.85

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.526

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

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;biological_process
• Cellular component: cellular_component;nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;metal ion binding