IFI27L1
Basic information
Region (hg38): 14:94081301-94103846
Previous symbols: [ "FAM14B" ]
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 IFI27L1 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 | 11 | 12 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 11 | 1 | 0 |
Variants in IFI27L1
This is a list of pathogenic ClinVar variants found in the IFI27L1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-94100751-T-C | not specified | Likely benign (Aug 16, 2021) | ||
14-94100756-G-A | not specified | Uncertain significance (Dec 21, 2023) | ||
14-94100765-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
14-94100772-G-A | Susceptibility to severe COVID-19 | Likely risk allele (Jul 01, 2022) | ||
14-94101837-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
14-94101849-G-A | not specified | Uncertain significance (Feb 22, 2023) | ||
14-94101889-T-C | not specified | Uncertain significance (Nov 17, 2023) | ||
14-94101903-A-G | not specified | Uncertain significance (Nov 08, 2022) | ||
14-94101930-G-A | not specified | Uncertain significance (Dec 19, 2022) | ||
14-94101954-G-C | not specified | Uncertain significance (Dec 16, 2023) | ||
14-94101957-G-T | not specified | Uncertain significance (Nov 15, 2021) | ||
14-94102488-C-T | not specified | Uncertain significance (Jul 22, 2022) | ||
14-94102516-G-T | not specified | Uncertain significance (May 10, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IFI27L1 | protein_coding | protein_coding | ENST00000555523 | 4 | 22565 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0662 | 0.745 | 125348 | 1 | 399 | 125748 | 0.00159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.577 | 47 | 59.5 | 0.790 | 0.00000323 | 626 |
Missense in Polyphen | 14 | 9.1156 | 1.5358 | 83 | ||
Synonymous | 0.0395 | 23 | 23.2 | 0.990 | 0.00000143 | 242 |
Loss of Function | 0.890 | 2 | 3.90 | 0.513 | 1.65e-7 | 48 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000736 | 0.000735 |
Ashkenazi Jewish | 0.00348 | 0.00348 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000467 | 0.0000462 |
European (Non-Finnish) | 0.000855 | 0.000853 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00755 | 0.00754 |
Other | 0.00245 | 0.00245 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the apoptotic process and has a pro- apoptotic activity. {ECO:0000269|PubMed:27673746}.;
Recessive Scores
- pRec
- 0.0490
Intolerance Scores
- loftool
- 0.715
- rvis_EVS
- 0.08
- rvis_percentile_EVS
- 59.76
Haploinsufficiency Scores
- pHI
- 0.0164
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.453
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0916
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ifi27l2b
- Phenotype
Gene ontology
- Biological process
- apoptotic process
- Cellular component
- mitochondrion;integral component of membrane
- Molecular function