IFI27L2

interferon alpha inducible protein 27 like 2

Basic information

Region (hg38): 14:94127779-94130253

Previous symbols: [ "FAM14A" ]

Links

ENSG00000119632 ∙ NCBI:83982 ∙ OMIM:611319 ∙ HGNC:19753 ∙ Uniprot:Q9H2X8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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			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)
14-94127845-C-T		not specified	Likely benign (Mar 01, 2025)
14-94127911-G-C		not specified	Uncertain significance (Jun 16, 2022)
14-94127990-C-G		not specified	Uncertain significance (Aug 08, 2024)
14-94128517-C-T		not specified	Uncertain significance (Nov 03, 2023)
14-94128562-C-T		not specified	Uncertain significance (Apr 09, 2024)
14-94128580-C-T		not specified	Uncertain significance (Dec 19, 2022)
14-94128616-T-A		not specified	Uncertain significance (Aug 14, 2023)
14-94128619-C-G		not specified	Uncertain significance (Sep 10, 2024)
14-94128627-G-A		not specified	Uncertain significance (Oct 11, 2024)
14-94128636-A-G		not specified	Uncertain significance (Dec 28, 2024)
14-94128657-A-G		not specified	Uncertain significance (Dec 28, 2023)
14-94128669-G-T		not specified	Uncertain significance (Feb 28, 2025)
14-94129276-G-A		not specified	Uncertain significance (Nov 21, 2023)
14-94129289-G-C		not specified	Uncertain significance (Feb 27, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFI27L2	protein_coding	protein_coding	ENST00000238609	4	2475

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000111	0.221	125728	0	19	125747	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.272	83	76.3	1.09	0.00000405	803
Missense in Polyphen		18	14.911	1.2071		148
Synonymous	0.278	31	33.0	0.938	0.00000211	301
Loss of Function	-0.871	5	3.29	1.52	1.39e-7	41

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000976	0.0000967
Middle Eastern	0.000163	0.000163
South Asian	0.0000654	0.0000653
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ifi27l2b

Gene ontology

• Biological process: apoptotic process
• Cellular component: mitochondrion;integral component of membrane;mitochondrial membrane