ZNF185

zinc finger protein 185 with LIM domain, the group of LIM domain containing

Basic information

Region (hg38): X:152898067-152973481

Links

ENSG00000147394 ∙ NCBI:7739 ∙ OMIM:300381 ∙ HGNC:12976 ∙ Uniprot:O15231 ∙ 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 ZNF185 gene.

• not_specified (83 variants)
• not_provided (7 variants)
• Autism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF185 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001395254.1. 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				4	1	5
missense			75	8		83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	76	12	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF185	protein_coding	protein_coding	ENST00000535861	23	59039

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.30e-13	0.213	124596	14	36	124646	0.000201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.137	279	286	0.977	0.0000235	4646
Missense in Polyphen		62	66.305	0.93507		1227
Synonymous	-0.211	111	108	1.03	0.00000924	1425
Loss of Function	0.984	22	27.6	0.798	0.00000205	495

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00255	0.00192
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000743	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000129	0.0000885
Middle Eastern	0.0000743	0.0000556
South Asian	0.000395	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the regulation of cellular proliferation and/or differentiation.

Intolerance Scores

• loftool: 0.269
• rvis_EVS: 0.11
• rvis_percentile_EVS: 62

Haploinsufficiency Scores

• pHI: 0.0739
• hipred: N
• hipred_score: 0.123
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.243

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp185

Zebrafish Information Network

• Gene name: znf185
• Affected structure: pericardium
• Phenotype tag: abnormal
• Phenotype quality: edematous

Gene ontology

• Cellular component: cytoplasm;focal adhesion;actin cytoskeleton
• Molecular function: zinc ion binding;actin filament binding