ZNF675

zinc finger protein 675, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:23525631-23687220

Links

ENSG00000197372 ∙ NCBI:171392 ∙ OMIM:620090 ∙ HGNC:30768 ∙ Uniprot:Q8TD23 ∙ 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 ZNF675 gene.

• not_specified (63 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF675 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138330.3. 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			63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF675	protein_coding	protein_coding	ENST00000359788	4	161590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.123	0.788	125116	0	3	125119	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.225	292	281	1.04	0.0000128	3752
Missense in Polyphen		114	112.02	1.0176		1463
Synonymous	0.404	93	98.1	0.948	0.00000451	962
Loss of Function	1.35	2	5.39	0.371	2.28e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000650	0.0000617
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000900	0.00000882
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0855

Intolerance Scores

• loftool: 0.687
• rvis_EVS: 0
• rvis_percentile_EVS: 53.85

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.112
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;I-kappaB kinase/NF-kappaB signaling;negative regulation of tumor necrosis factor-mediated signaling pathway;cytokine-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;negative regulation of JUN kinase activity;bone resorption;negative regulation of osteoclast differentiation;negative regulation of JNK cascade;negative regulation of interleukin-1-mediated signaling pathway;negative regulation of transcription regulatory region DNA binding
• Cellular component: nucleus;perinuclear region of cytoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;zinc ion binding;ubiquitin protein ligase binding