ZNF705D

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

Basic information

Region (hg38): 8:12089338-12115516

Links

ENSG00000215343 ∙ NCBI:728957 ∙ ∙ HGNC:33202 ∙ Uniprot:P0CH99 ∙ 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 ZNF705D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF705D 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ZNF705D

This is a list of pathogenic ClinVar variants found in the ZNF705D region.

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

Position	Type	Phenotype	Significance	ClinVar
8-12109988-A-T		not specified	Uncertain significance (Jul 13, 2021)
8-12112773-A-C		not specified	Uncertain significance (Oct 29, 2021)
8-12112775-T-C		not specified	Uncertain significance (Oct 29, 2021)
8-12112832-A-G		not specified	Uncertain significance (Aug 01, 2022)
8-12112898-C-T		not specified	Uncertain significance (Mar 16, 2022)
8-12112907-C-T		not specified	Uncertain significance (Nov 08, 2022)
8-12112923-C-T		not specified	Uncertain significance (Aug 12, 2021)
8-12112949-C-A		not specified	Uncertain significance (Apr 18, 2023)
8-12112953-G-A		not specified	Uncertain significance (Feb 28, 2024)
8-12112965-T-C		not specified	Uncertain significance (May 10, 2022)
8-12112973-T-A		not specified	Uncertain significance (Jun 01, 2022)
8-12113000-A-G		not specified	Uncertain significance (Apr 18, 2023)
8-12113050-T-G		not specified	Uncertain significance (Jan 06, 2023)
8-12113114-C-T		not specified	Uncertain significance (May 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF705D	protein_coding	protein_coding	ENST00000400085	5	11128

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.294	18	14.8	1.22	6.63e-7	1968
Missense in Polyphen		8	5.6269	1.4218		554
Synonymous	-0.421	6	4.82	1.24	2.37e-7	507
Loss of Function

LoF frequencies by population

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

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)

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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