ZFAND6

zinc finger AN1-type containing 6, the group of Zinc fingers AN1-type

Basic information

Region (hg38): 15:80059568-80140292

Previous symbols: [ "ZA20D3" ]

Links

ENSG00000086666 ∙ NCBI:54469 ∙ OMIM:610183 ∙ HGNC:30164 ∙ Uniprot:Q6FIF0 ∙ 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 ZFAND6 gene.

• not_specified (17 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFAND6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019006.4. 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			17	1		18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFAND6	protein_coding	protein_coding	ENST00000261749	5	78826

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.462	0.533	125693	0	12	125705	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.988	80	109	0.734	0.00000545	1353
Missense in Polyphen		19	39.052	0.48653		500
Synonymous	-0.415	39	35.8	1.09	0.00000169	380
Loss of Function	2.34	2	9.99	0.200	4.19e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000102	0.000102
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000939	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'- linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity). {ECO:0000250, ECO:0000269|PubMed:19285159, ECO:0000269|PubMed:21810480}.
• Pathway: Metabolism of proteins;Peroxisomal protein import (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.306
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.597
• hipred: Y
• hipred_score: 0.800
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.761

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfand6

Gene ontology

• Biological process: protein targeting to peroxisome;apoptotic process;negative regulation of apoptotic process;regulation of I-kappaB kinase/NF-kappaB signaling;cellular response to tumor necrosis factor
• Cellular component: cellular_component;cytosol
• Molecular function: molecular_function;DNA binding;protein binding;zinc ion binding;polyubiquitin modification-dependent protein binding