ZFAND1
Basic information
Region (hg38): 8:81701334-81732903
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFAND1 gene is commonly pathogenic or not.
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.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 13 | 13 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 14 | 0 | 0 |
Variants in ZFAND1
This is a list of pathogenic ClinVar variants found in the ZFAND1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-81702857-C-A | not specified | Uncertain significance (Jan 08, 2024) | ||
8-81703025-C-A | not specified | Uncertain significance (Dec 07, 2023) | ||
8-81703028-T-C | not specified | Uncertain significance (Jan 23, 2023) | ||
8-81703028-T-G | not specified | Uncertain significance (Oct 14, 2023) | ||
8-81703102-A-C | not specified | Uncertain significance (May 04, 2023) | ||
8-81713971-C-A | not specified | Uncertain significance (Jun 24, 2022) | ||
8-81713971-C-T | not specified | Uncertain significance (Aug 11, 2022) | ||
8-81714831-T-C | not specified | Uncertain significance (Dec 21, 2023) | ||
8-81714878-T-G | not specified | Uncertain significance (Aug 23, 2021) | ||
8-81714891-G-A | not specified | Uncertain significance (Jan 23, 2023) | ||
8-81714988-T-C | not specified | Uncertain significance (May 24, 2023) | ||
8-81717251-C-T | not specified | Uncertain significance (Jan 30, 2024) | ||
8-81717260-C-A | not specified | Uncertain significance (Apr 04, 2023) | ||
8-81721266-T-A | not specified | Uncertain significance (Jun 06, 2023) | ||
8-81732681-G-C | not specified | Uncertain significance (Feb 17, 2024) | ||
8-81732744-C-G | not specified | Uncertain significance (May 04, 2022) | ||
8-81732798-G-C | not specified | Uncertain significance (Jul 09, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZFAND1 | protein_coding | protein_coding | ENST00000220669 | 8 | 31570 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.93e-8 | 0.399 | 125630 | 1 | 106 | 125737 | 0.000426 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.000999 | 132 | 132 | 1.00 | 0.00000611 | 1771 |
Missense in Polyphen | 30 | 31.848 | 0.94196 | 405 | ||
Synonymous | -0.916 | 52 | 44.2 | 1.18 | 0.00000207 | 450 |
Loss of Function | 0.766 | 13 | 16.3 | 0.795 | 9.21e-7 | 202 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000305 | 0.000302 |
Ashkenazi Jewish | 0.00109 | 0.00109 |
East Asian | 0.000328 | 0.000272 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000664 | 0.000660 |
Middle Eastern | 0.000328 | 0.000272 |
South Asian | 0.000253 | 0.000229 |
Other | 0.000335 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the regulation of cytoplasmic stress granules (SGs) turnover. SGs are dynamic and transient cytoplasmic ribonucleoprotein assemblies important for cellular protein homeostasis when protein production is suspended after acute exogenous stress (PubMed:29804830). Associates with SGs and is involved in the efficient and specific arsenite-induced clearance process of SGs through the recruitment of the ubiquitin-selective ATPase VCP and the 26S proteasome (PubMed:29804830). This process requires both complexes for efficient degradation of damaged ubiquitinated SG proteins during recovery from arsenite stress, and hence avoiding aberrant cytoplasmic SGs degradation via autophagy (PubMed:29804830). {ECO:0000269|PubMed:29804830}.;
Recessive Scores
- pRec
- 0.0901
Intolerance Scores
- loftool
- 0.255
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.07
Haploinsufficiency Scores
- pHI
- 0.120
- hipred
- N
- hipred_score
- 0.253
- ghis
- 0.635
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.291
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfand1
- Phenotype
Gene ontology
- Biological process
- cellular response to oxidative stress;cellular response to heat;stress granule disassembly;cellular response to osmotic stress;positive regulation of intracellular protein transport;cellular response to arsenite ion
- Cellular component
- cytoplasmic stress granule
- Molecular function
- protein binding;zinc ion binding;proteasome binding