ZFYVE26
Basic information
Region (hg38): 14:67727374-67816590
Previous symbols: [ "SPG15" ]
Links
Phenotypes
GenCC
Source:
- hereditary spastic paraplegia 15 (Definitive), mode of inheritance: AR
- hereditary spastic paraplegia 15 (Definitive), mode of inheritance: AR
- hereditary spastic paraplegia 15 (Strong), mode of inheritance: AR
- hereditary spastic paraplegia 15 (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spastic paraplegia 15, autosomal recessive | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 11342696; 14745065; 17661097; 19438933; 18394578; 19805727 |
ClinVar
This is a list of variants' phenotypes submitted to
- Spastic paraplegia (152 variants)
- Hereditary spastic paraplegia 15 (21 variants)
- not provided (7 variants)
- Hereditary spastic paraplegia (5 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFYVE26 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 | 11 | 907 | 13 | 931 | ||
missense | 617 | 22 | 648 | |||
nonsense | 76 | 58 | 138 | |||
start loss | 2 | |||||
frameshift | 80 | 72 | 155 | |||
inframe indel | 18 | 18 | ||||
splice donor/acceptor (+/-2bp) | 54 | 59 | ||||
splice region | 1 | 26 | 116 | 1 | 144 | |
non coding | 37 | 378 | 93 | 508 | ||
Total | 163 | 185 | 690 | 1308 | 113 |
Highest pathogenic variant AF is 0.0000132
Variants in ZFYVE26
This is a list of pathogenic ClinVar variants found in the ZFYVE26 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-67727376-G-C | Benign (May 14, 2021) | |||
14-67727476-G-T | Benign (Jun 19, 2021) | |||
14-67729171-T-C | Leber congenital amaurosis 13 | Likely benign (Jul 25, 2023) | ||
14-67729175-G-A | Leber congenital amaurosis 13 | Likely benign (Dec 19, 2022) | ||
14-67729176-C-A | Leber congenital amaurosis 13 | Likely benign (Jul 22, 2021) | ||
14-67729177-C-T | Leber congenital amaurosis 13 | Likely benign (Jul 28, 2023) | ||
14-67729177-CCT-C | Leber congenital amaurosis 13 | Likely benign (Oct 27, 2023) | ||
14-67729179-T-C | Retinitis Pigmentosa, Recessive • Leber congenital amaurosis 13 • Retinitis pigmentosa | Conflicting classifications of pathogenicity (Jan 31, 2024) | ||
14-67729180-C-T | Leber congenital amaurosis 13 | Likely benign (May 21, 2023) | ||
14-67729181-T-C | Leber congenital amaurosis 13 | Likely benign (Aug 18, 2023) | ||
14-67729182-T-C | Leber congenital amaurosis 13 | Likely benign (Nov 07, 2022) | ||
14-67729184-G-C | Leber congenital amaurosis 13 | Likely benign (Jan 24, 2023) | ||
14-67729188-C-T | Leber congenital amaurosis 13 | Uncertain significance (Aug 19, 2022) | ||
14-67729189-A-C | Leber congenital amaurosis 13 | Likely pathogenic (Oct 14, 2021) | ||
14-67729189-A-T | Leber congenital amaurosis 13 | Likely pathogenic (Aug 30, 2023) | ||
14-67729190-G-A | Leber congenital amaurosis 13 | Likely pathogenic (Aug 21, 2022) | ||
14-67729192-C-A | Leber congenital amaurosis 13 | Likely benign (Apr 26, 2023) | ||
14-67729194-C-T | Retinitis Pigmentosa, Recessive • Leber congenital amaurosis • Inborn genetic diseases • Leber congenital amaurosis 13 • Retinitis pigmentosa | Conflicting classifications of pathogenicity (Jan 31, 2024) | ||
14-67729195-C-A | Leber congenital amaurosis 13 | Uncertain significance (May 20, 2023) | ||
14-67729195-C-T | Leber congenital amaurosis 13 | Likely benign (Dec 04, 2023) | ||
14-67729196-G-A | Leber congenital amaurosis 13 | Uncertain significance (Jun 01, 2022) | ||
14-67729196-G-T | Leber congenital amaurosis 13 | Uncertain significance (Nov 12, 2022) | ||
14-67729199-G-T | Retinal dystrophy • Leber congenital amaurosis | Conflicting classifications of pathogenicity (Oct 30, 2023) | ||
14-67729200-T-A | Retinal dystrophy | Uncertain significance (Oct 01, 2023) | ||
14-67729200-T-TGTCCCAGGCACCTCTTTGTCCCAGG | Leber congenital amaurosis 13 | Likely pathogenic (-) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZFYVE26 | protein_coding | protein_coding | ENST00000347230 | 41 | 89217 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.69e-23 | 1.00 | 125614 | 0 | 134 | 125748 | 0.000533 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.520 | 1280 | 1.33e+3 | 0.960 | 0.0000775 | 16499 |
Missense in Polyphen | 314 | 382.62 | 0.82065 | 5122 | ||
Synonymous | 0.511 | 521 | 536 | 0.972 | 0.0000301 | 5150 |
Loss of Function | 5.23 | 58 | 120 | 0.484 | 0.00000624 | 1427 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000807 | 0.000807 |
Ashkenazi Jewish | 0.000298 | 0.000298 |
East Asian | 0.000435 | 0.000435 |
Finnish | 0.000278 | 0.000277 |
European (Non-Finnish) | 0.000688 | 0.000686 |
Middle Eastern | 0.000435 | 0.000435 |
South Asian | 0.000588 | 0.000588 |
Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair. {ECO:0000269|PubMed:20208530}.;
- Disease
- DISEASE: Spastic paraplegia 15, autosomal recessive (SPG15) [MIM:270700]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration. {ECO:0000269|PubMed:18394578, ECO:0000269|PubMed:19084844, ECO:0000269|PubMed:19805727}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- 0.892
- rvis_EVS
- -0.27
- rvis_percentile_EVS
- 33.59
Haploinsufficiency Scores
- pHI
- 0.0833
- hipred
- N
- hipred_score
- 0.466
- ghis
- 0.540
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.397
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfyve26
- Phenotype
- skeleton phenotype; renal/urinary system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- zfyve26
- Affected structure
- motor neuron
- Phenotype tag
- abnormal
- Phenotype quality
- branchiness
Gene ontology
- Biological process
- mitotic cytokinesis;double-strand break repair via homologous recombination;regulation of cytokinesis
- Cellular component
- lysosomal membrane;centrosome;midbody
- Molecular function
- protein binding;phosphatidylinositol-3-phosphate binding;metal ion binding