ZNF703

zinc finger protein 703, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:37695782-37700019

Links

ENSG00000183779 ∙ NCBI:80139 ∙ OMIM:617045 ∙ HGNC:25883 ∙ Uniprot:Q9H7S9 ∙ 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 ZNF703 gene.

• not_specified (78 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF703 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025069.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense			80			80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	82	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF703	protein_coding	protein_coding	ENST00000331569	2	4269

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.356	0.632	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	172	268	0.642	0.0000144	3587
Missense in Polyphen		45	85.411	0.52687		1067
Synonymous	1.66	113	138	0.820	0.00000862	1364
Loss of Function	2.13	2	8.84	0.226	3.77e-7	144

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: Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development. {ECO:0000269|PubMed:21328542, ECO:0000269|PubMed:21337521}.
• Disease: DISEASE: Note=Luminal B breast cancers are the clinically more aggressive estrogen receptor-positive tumors. Amplification of a distal 8p12 locus occurs in around one third of the cases and ZNF703 is the single gene within the minimal amplicon. Amplification of the gene correlates with its protein expression in tumor cells. ZNF703 is a classical breast cancer oncogene since it is able to transform non-malignant cells and increase cellular proliferation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.122

Haploinsufficiency Scores

• pHI: 0.575
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp703

Zebrafish Information Network

• Gene name: znf703
• Affected structure: ocular blood vessel
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: regulation of transcription, DNA-templated;positive regulation of cell population proliferation;positive regulation of epithelial to mesenchymal transition;regulation of transforming growth factor beta receptor signaling pathway;positive regulation of cell migration;positive regulation of mammary gland epithelial cell proliferation;negative regulation of homotypic cell-cell adhesion;adherens junction assembly;negative regulation of transcription, DNA-templated;regulation of cell cycle;mammary gland epithelial cell differentiation;regulation of canonical Wnt signaling pathway;cellular response to estradiol stimulus
• Cellular component: nucleus;cytoplasm;nuclear matrix;protein-containing complex
• Molecular function: nucleic acid binding;protein binding;metal ion binding;repressing transcription factor binding