ZNF705G

zinc finger protein 705G, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:7355516-7385558

Links

ENSG00000215372 ∙ NCBI:100131980 ∙ ∙ HGNC:37134 ∙ Uniprot:A8MUZ8 ∙ 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 ZNF705G gene.

• Inborn genetic diseases (22 variants)
• not specified (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF705G 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			21	1		22
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	21	2	1

Variants in ZNF705G

This is a list of pathogenic ClinVar variants found in the ZNF705G region.

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

Position	Type	Phenotype	Significance	ClinVar
8-7357989-G-A		not specified	Uncertain significance (Apr 27, 2023)
8-7357992-G-A		not specified	Uncertain significance (Dec 02, 2022)
8-7358030-T-A			Likely benign (Mar 01, 2023)
8-7358094-C-A		not specified	Uncertain significance (Oct 20, 2023)
8-7358131-G-A		not specified	Uncertain significance (Jun 01, 2022)
8-7358201-T-G		not specified	Uncertain significance (Jul 26, 2022)
8-7358208-C-G		not specified	Uncertain significance (May 16, 2023)
8-7358211-G-A		not specified	Uncertain significance (Jun 22, 2021)
8-7358217-G-A		not specified	Uncertain significance (Jan 16, 2024)
8-7358224-C-T		not specified	Uncertain significance (Oct 25, 2023)
8-7358257-C-T		not specified	Uncertain significance (Jun 30, 2022)
8-7358311-G-T		not specified	Uncertain significance (Dec 27, 2023)
8-7358313-C-T		not specified	Uncertain significance (Apr 07, 2022)
8-7358332-T-C		not specified	Uncertain significance (Mar 20, 2023)
8-7358362-G-C		not specified	Likely benign (Jan 23, 2023)
8-7358381-A-T		not specified	Uncertain significance (Aug 02, 2021)
8-7358389-G-C		not specified	Uncertain significance (Sep 17, 2021)
8-7358394-T-C		not specified	Uncertain significance (Sep 12, 2023)
8-7358414-A-T		not specified	Uncertain significance (Mar 04, 2024)
8-7358451-G-A		not specified	Uncertain significance (Sep 22, 2022)
8-7358463-C-T		not specified	Uncertain significance (Aug 12, 2022)
8-7358517-G-A		not specified	Likely benign (Dec 19, 2022)
8-7359636-A-G		not specified	Uncertain significance (Dec 14, 2021)
8-7359639-C-A		not specified	Uncertain significance (Oct 06, 2022)
8-7359642-C-G		not specified	Uncertain significance (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF705G	protein_coding	protein_coding	ENST00000400156	5	30042

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.65e-8	0.0355	118884	3	30	118917	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-5.10	314	143	2.20	0.00000690	1927
Missense in Polyphen		124	58.694	2.1127		856
Synonymous	-4.80	94	50.6	1.86	0.00000254	514
Loss of Function	-1.20	10	6.65	1.50	2.79e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000822	0.000620
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000161	0.000161
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. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

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;metal ion binding