IFI27L1

interferon alpha inducible protein 27 like 1

Basic information

Region (hg38): 14:94081301-94103846

Previous symbols: [ "FAM14B" ]

Links

ENSG00000165948NCBI:122509OMIM:611320HGNC:19754Uniprot:Q96BM0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IFI27L1 gene.

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
clinvar
1
clinvar
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)2393441
14-94100756-G-A not specified Uncertain significance (Dec 21, 2023)3108126
14-94100765-G-A not specified Uncertain significance (Jan 30, 2024)3108127
14-94100772-G-A Susceptibility to severe COVID-19 Likely risk allele (Jul 01, 2022)2428766
14-94101837-G-A not specified Uncertain significance (Sep 01, 2021)3108128
14-94101849-G-A not specified Uncertain significance (Feb 22, 2023)2464728
14-94101889-T-C not specified Uncertain significance (Nov 17, 2023)3108124
14-94101903-A-G not specified Uncertain significance (Nov 08, 2022)2323024
14-94101930-G-A not specified Uncertain significance (Dec 19, 2022)2348900
14-94101954-G-C not specified Uncertain significance (Dec 16, 2023)3108125
14-94101957-G-T not specified Uncertain significance (Nov 15, 2021)2385167
14-94102488-C-T not specified Uncertain significance (Jul 22, 2022)2303030
14-94102516-G-T not specified Uncertain significance (May 10, 2022)2221190

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IFI27L1protein_codingprotein_codingENST00000555523 422565
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.06620.74512534813991257480.00159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5774759.50.7900.00000323626
Missense in Polyphen149.11561.535883
Synonymous0.03952323.20.9900.00000143242
Loss of Function0.89023.900.5131.65e-748

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007360.000735
Ashkenazi Jewish0.003480.00348
East Asian0.000.00
Finnish0.00004670.0000462
European (Non-Finnish)0.0008550.000853
Middle Eastern0.000.00
South Asian0.007550.00754
Other0.002450.00245

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ifi27l2b
Phenotype

Gene ontology

Biological process
apoptotic process
Cellular component
mitochondrion;integral component of membrane
Molecular function