IFI35

interferon induced protein 35

Basic information

Region (hg38): 17:43006740-43014456

Links

ENSG00000068079 ∙ NCBI:3430 ∙ OMIM:600735 ∙ HGNC:5399 ∙ Uniprot:P80217 ∙ 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 IFI35 gene.

• not_specified (45 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFI35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001330230.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			39	5		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	40	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFI35	protein_coding	protein_coding	ENST00000438323	7	7732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.28e-7	0.387	125443	3	302	125748	0.00121

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.245	173	164	1.05	0.00000971	1827
Missense in Polyphen		49	47.439	1.0329		560
Synonymous	0.280	71	74.1	0.959	0.00000464	609
Loss of Function	0.604	11	13.4	0.822	7.28e-7	145

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00162	0.00163
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000546	0.0000544
Finnish	0.00222	0.00217
European (Non-Finnish)	0.00181	0.00179
Middle Eastern	0.0000546	0.0000544
South Asian	0.000574	0.000523
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Not yet known.
• Pathway: The human immune response to tuberculosis;Cytokine Signaling in Immune system;Immune System;Interferon alpha/beta signaling;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.0982

Intolerance Scores

• loftool: 0.916
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.6

Haploinsufficiency Scores

• pHI: 0.0583
• hipred: N
• hipred_score: 0.146
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.907

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifi35

Gene ontology

• Biological process: type I interferon signaling pathway
• Cellular component: nucleus;cytosol
• Molecular function: protein binding