ZSWIM5
Basic information
Region (hg38): 1:45016399-45306209
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (136 variants)
- not_provided (2 variants)
- Normal_pregnancy (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSWIM5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020883.2. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 134 | 137 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 134 | 2 | 1 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZSWIM5 | protein_coding | protein_coding | ENST00000359600 | 14 | 289811 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0398 | 0.960 | 124765 | 0 | 33 | 124798 | 0.000132 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.32 | 471 | 635 | 0.741 | 0.0000348 | 7586 |
Missense in Polyphen | 35 | 38.976 | 0.89799 | 425 | ||
Synonymous | 2.68 | 199 | 253 | 0.786 | 0.0000127 | 2480 |
Loss of Function | 5.10 | 14 | 54.8 | 0.256 | 0.00000322 | 565 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000521 | 0.000521 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000223 | 0.000223 |
Finnish | 0.0000465 | 0.0000464 |
European (Non-Finnish) | 0.0000976 | 0.0000971 |
Middle Eastern | 0.000223 | 0.000223 |
South Asian | 0.0000982 | 0.0000980 |
Other | 0.000165 | 0.000165 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- loftool
- 0.687
- rvis_EVS
- -0.73
- rvis_percentile_EVS
- 14.2
Haploinsufficiency Scores
- pHI
- 0.657
- hipred
- Y
- hipred_score
- 0.626
- ghis
- 0.563
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.131
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zswim5
- Phenotype
- pigmentation phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- regulation of axon guidance
- Cellular component
- extracellular space;Cul2-RING ubiquitin ligase complex
- Molecular function
- zinc ion binding