ZNF704

zinc finger protein 704, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:80628451-80874781

Links

ENSG00000164684 ∙ NCBI:619279 ∙ ∙ HGNC:32291 ∙ Uniprot:Q6ZNC4 ∙ 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 ZNF704 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF704 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in ZNF704

This is a list of pathogenic ClinVar variants found in the ZNF704 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-80641419-T-C		not specified	Uncertain significance (Feb 26, 2024)
8-80641473-G-A		not specified	Uncertain significance (May 17, 2023)
8-80643129-C-T		not specified	Uncertain significance (Sep 20, 2023)
8-80659644-T-C		not specified	Uncertain significance (May 18, 2022)
8-80664915-G-C		not specified	Uncertain significance (Jul 27, 2023)
8-80670512-A-T		not specified	Uncertain significance (May 24, 2023)
8-80687291-C-T		not specified	Uncertain significance (May 12, 2024)
8-80687402-T-C		not specified	Uncertain significance (Jan 20, 2023)
8-80687419-G-A		not specified	Uncertain significance (Dec 09, 2023)
8-80693013-G-A		not specified	Uncertain significance (May 26, 2022)
8-80693051-C-G		not specified	Uncertain significance (Jun 02, 2023)
8-80693070-C-T		not specified	Uncertain significance (Sep 22, 2023)
8-80821408-C-T		not specified	Uncertain significance (Jun 16, 2024)
8-80821506-T-C		not specified	Uncertain significance (Aug 02, 2021)
8-80821513-T-C		not specified	Uncertain significance (Apr 17, 2023)
8-80821542-A-T		not specified	Uncertain significance (May 18, 2023)
8-80821581-A-C		not specified	Uncertain significance (Sep 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF704	protein_coding	protein_coding	ENST00000327835	8	246331

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00468	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.01	161	250	0.643	0.0000142	2699
Missense in Polyphen		39	101.3	0.38499		1110
Synonymous	-0.265	101	97.7	1.03	0.00000595	804
Loss of Function	3.97	1	20.3	0.0493	0.00000119	220

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor which binds to RE2 sequence elements in the MYOD1 enhancer. {ECO:0000250|UniProtKB:Q9ERQ3}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.138
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.222
• hipred: Y
• hipred_score: 0.786
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.247

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp704
• Phenotype: normal phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: enhancer sequence-specific DNA binding;metal ion binding