IFFO1

intermediate filament family orphan 1, the group of Intermediate filament family orphans

Basic information

Region (hg38): 12:6538960-6556073

Previous symbols: [ "IFFO" ]

Links

ENSG00000010295 ∙ NCBI:25900 ∙ OMIM:610495 ∙ HGNC:24970 ∙ Uniprot:Q0D2I5 ∙ 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 IFFO1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFFO1 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				1		1
missense			39			39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	1	0

Variants in IFFO1

This is a list of pathogenic ClinVar variants found in the IFFO1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-6540490-A-G		not specified	Uncertain significance (Dec 27, 2023)
12-6540568-G-A		not specified	Uncertain significance (Jun 30, 2022)
12-6541518-C-T		not specified	Uncertain significance (Feb 23, 2023)
12-6541540-G-A		not specified	Uncertain significance (Apr 25, 2022)
12-6548127-C-T		not specified	Uncertain significance (Apr 22, 2022)
12-6548702-T-G		not specified	Uncertain significance (Dec 21, 2023)
12-6548707-A-G		not specified	Uncertain significance (Feb 02, 2022)
12-6548753-C-T		not specified	Uncertain significance (Dec 08, 2023)
12-6548800-C-T		not specified	Uncertain significance (Jan 26, 2023)
12-6548806-C-T		not specified	Uncertain significance (Jan 11, 2023)
12-6548810-C-A		not specified	Uncertain significance (Oct 26, 2022)
12-6548810-C-T		not specified	Uncertain significance (May 25, 2022)
12-6549479-C-G		not specified	Uncertain significance (Feb 22, 2023)
12-6549814-G-A		not specified	Uncertain significance (Jan 04, 2022)
12-6549833-G-A		not specified	Uncertain significance (Sep 30, 2021)
12-6549843-C-T		not specified	Uncertain significance (Mar 17, 2023)
12-6549852-C-T			Likely benign (Apr 01, 2023)
12-6549889-G-A		not specified	Uncertain significance (Aug 08, 2023)
12-6550786-G-A		not specified	Uncertain significance (Jun 18, 2021)
12-6550960-C-T		not specified	Uncertain significance (Feb 02, 2024)
12-6550997-C-T		not specified	Uncertain significance (May 08, 2024)
12-6555283-C-G		not specified	Uncertain significance (Oct 13, 2023)
12-6555414-C-T		not specified	Uncertain significance (Oct 05, 2022)
12-6555471-A-C		not specified	Uncertain significance (May 24, 2023)
12-6555479-G-A		not specified	Uncertain significance (Oct 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFFO1	protein_coding	protein_coding	ENST00000356896	10	17699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000134	0.998	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.974	291	342	0.852	0.0000193	3605
Missense in Polyphen		98	153.16	0.63986		1533
Synonymous	0.658	140	150	0.932	0.00000867	1154
Loss of Function	2.75	11	26.2	0.420	0.00000131	286

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000146	0.000146
Ashkenazi Jewish	0.000399	0.000397
East Asian	0.000164	0.000163
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000216	0.000211
Middle Eastern	0.000164	0.000163
South Asian	0.0000985	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0989

Intolerance Scores

• loftool: 0.205
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.56

Haploinsufficiency Scores

• pHI: 0.0668
• hipred: Y
• hipred_score: 0.563
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.582

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iffo1

Gene ontology

• Cellular component: intermediate filament