ZNF395

zinc finger protein 395, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:28345590-28402701

Links

ENSG00000186918 ∙ NCBI:55893 ∙ OMIM:609494 ∙ HGNC:18737 ∙ Uniprot:Q9H8N7 ∙ 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 ZNF395 gene.

• not_specified (64 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF395 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018660.3. 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			63	3		66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF395	protein_coding	protein_coding	ENST00000344423	9	57117

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.309	0.691	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.938	258	304	0.849	0.0000179	3266
Missense in Polyphen		92	127.97	0.7189		1426
Synonymous	-1.35	150	130	1.15	0.00000862	1084
Loss of Function	3.62	6	25.9	0.232	0.00000144	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000923	0.0000905
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.0000550	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000643	0.0000615
Middle Eastern	0.0000550	0.0000544
South Asian	0.0000331	0.0000327
Other	0.000204	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in papillomavirus genes transcription.

Intolerance Scores

• loftool: 0.105
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.88

Haploinsufficiency Scores

• pHI: 0.327
• hipred: N
• hipred_score: 0.423
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.943

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp395

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;enhancer sequence-specific DNA binding;DNA binding;metal ion binding