ZFP30

ZFP30 zinc finger protein, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37613749-37692337

Links

ENSG00000120784 ∙ NCBI:22835 ∙ OMIM:617317 ∙ HGNC:29555 ∙ Uniprot:Q9Y2G7 ∙ 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 ZFP30 gene.

• not_specified (56 variants)
• Cerebral_visual_impairment_and_intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFP30 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001320669.3. 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						0
missense		1	54	2		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	54	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFP30	protein_coding	protein_coding	ENST00000351218	4	78589

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.85e-7	0.948	125666	0	82	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.300	256	270	0.949	0.0000129	3436
Missense in Polyphen		149	161.57	0.92222		2000
Synonymous	0.591	84	91.2	0.921	0.00000423	904
Loss of Function	1.88	14	23.9	0.585	0.00000137	315

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000682	0.000680
Ashkenazi Jewish	0.00	0.00
East Asian	0.000711	0.000707
Finnish	0.0000932	0.0000924
European (Non-Finnish)	0.000275	0.000273
Middle Eastern	0.000711	0.000707
South Asian	0.000425	0.000425
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.830
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.49

Haploinsufficiency Scores

• pHI: 0.199
• hipred: N
• hipred_score: 0.248
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.700

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp30

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