IFI27L2

interferon alpha inducible protein 27 like 2

Basic information

Region (hg38): 14:94127779-94130253

Previous symbols: [ "FAM14A" ]

Links

ENSG00000119632NCBI:83982OMIM:611319HGNC:19753Uniprot:Q9H2X8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IFI27L2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFI27L2 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
11
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 0 0

Variants in IFI27L2

This is a list of pathogenic ClinVar variants found in the IFI27L2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
14-94127827-G-T not specified Uncertain significance (Dec 02, 2024)3527647
14-94127845-C-T not specified Likely benign (Mar 01, 2025)3859438
14-94127911-G-C not specified Uncertain significance (Jun 16, 2022)2360549
14-94127990-C-G not specified Uncertain significance (Aug 08, 2024)2222080
14-94128517-C-T not specified Uncertain significance (Nov 03, 2023)3108129
14-94128562-C-T not specified Uncertain significance (Apr 09, 2024)3285301
14-94128580-C-T not specified Uncertain significance (Dec 19, 2022)2336477
14-94128616-T-A not specified Uncertain significance (Aug 14, 2023)2618062
14-94128619-C-G not specified Uncertain significance (Sep 10, 2024)3527646
14-94128627-G-A not specified Uncertain significance (Oct 11, 2024)3527648
14-94128636-A-G not specified Uncertain significance (Dec 28, 2024)3859436
14-94128657-A-G not specified Uncertain significance (Dec 28, 2023)3108131
14-94128669-G-T not specified Uncertain significance (Feb 28, 2025)3859437
14-94129276-G-A not specified Uncertain significance (Nov 21, 2023)3108130
14-94129289-G-C not specified Uncertain significance (Feb 27, 2025)3859435

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IFI27L2protein_codingprotein_codingENST00000238609 42475
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001110.2211257280191257470.0000756
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2728376.31.090.00000405803
Missense in Polyphen1814.9111.2071148
Synonymous0.2783133.00.9380.00000211301
Loss of Function-0.87153.291.521.39e-741

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001530.000152
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.000.00
European (Non-Finnish)0.00009760.0000967
Middle Eastern0.0001630.000163
South Asian0.00006540.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in the apoptotic process and has a pro- apoptotic activity. {ECO:0000269|PubMed:27673746}.;

Intolerance Scores

loftool
0.638
rvis_EVS
-0.08
rvis_percentile_EVS
47.79

Haploinsufficiency Scores

pHI
0.0231
hipred
N
hipred_score
0.112
ghis
0.535

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00951

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;mitochondrial membrane
Molecular function