FIS1
fission, mitochondrial 1, the group of Tetratricopeptide repeat domain containing
Basic information
Region (hg38): 7:101239458-101252316
Previous symbols: [ "TTC11" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (24 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FIS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016068.3. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 24 | 24 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 24 | 1 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FIS1 | protein_coding | protein_coding | ENST00000223136 | 5 | 12859 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000130 | 0.401 | 124789 | 0 | 14 | 124803 | 0.0000561 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.376 | 84 | 94.3 | 0.891 | 0.00000600 | 961 |
| Missense in Polyphen | 31 | 29.24 | 1.0602 | 321 | ||
| Synonymous | -0.234 | 45 | 43.0 | 1.05 | 0.00000290 | 305 |
| Loss of Function | 0.364 | 8 | 9.19 | 0.870 | 3.91e-7 | 108 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000152 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000928 | 0.0000928 |
| European (Non-Finnish) | 0.0000618 | 0.0000618 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin- related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. {ECO:0000269|PubMed:12783892, ECO:0000269|PubMed:12861026, ECO:0000269|PubMed:14996942, ECO:0000269|PubMed:16107562, ECO:0000269|PubMed:16118244, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241}.;
- Pathway
- Mitophagy - animal - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.394
- rvis_EVS
- 0.17
- rvis_percentile_EVS
- 65.33
Haploinsufficiency Scores
- pHI
- 0.150
- hipred
- Y
- hipred_score
- 0.664
- ghis
- 0.457
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- 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 |
Mouse Genome Informatics
- Gene name
- Fis1
- Phenotype
Zebrafish Information Network
- Gene name
- fis1
- Affected structure
- chondrocyte
- Phenotype tag
- abnormal
- Phenotype quality
- apoptotic
Gene ontology
- Biological process
- mitochondrial fission;autophagy of mitochondrion;release of cytochrome c from mitochondria;protein targeting to mitochondrion;apoptotic process;positive regulation of cytosolic calcium ion concentration;mitochondrial fusion;regulation of mitochondrion organization;response to muscle activity;peroxisome fission;response to nutrient levels;negative regulation of endoplasmic reticulum calcium ion concentration;calcium-mediated signaling using intracellular calcium source;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of neuron apoptotic process;mitochondrial fragmentation involved in apoptotic process;protein homooligomerization;positive regulation of mitochondrial calcium ion concentration;mitochondrion morphogenesis;cellular response to glucose stimulus;positive regulation of mitochondrial fission;positive regulation of protein targeting to membrane;cellular response to toxic substance;cellular response to peptide;response to fluoride;cellular response to thapsigargin;response to flavonoid;response to hypobaric hypoxia;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- mitochondrion;mitochondrial outer membrane;peroxisome;integral component of peroxisomal membrane;endoplasmic reticulum;membrane;integral component of mitochondrial outer membrane;protein-containing complex
- Molecular function
- signaling receptor binding;protein binding;protein-containing complex binding