IFI27L1

interferon alpha inducible protein 27 like 1

Basic information

Region (hg38): 14:94081300-94103846

Previous symbols: [ "FAM14B" ]

Links

ENSG00000165948 ∙ NCBI:122509 ∙ OMIM:611320 ∙ HGNC:19754 ∙ Uniprot:Q96BM0 ∙ 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 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	1		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: gnomAD

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: 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

	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