FIRRM

FIGNL1 interacting regulator of recombination and mitosis

Basic information

Region (hg38): 1:169662007-169854080

Previous symbols: [ "C1orf112" ]

Links

ENSG00000000460 ∙ NCBI:55732 ∙ ∙ HGNC:25565 ∙ Uniprot:Q9NSG2 ∙ 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 FIRRM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FIRRM 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			4	2	2	8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	2	2

Variants in FIRRM

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

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

Position	Type	Phenotype	Significance	ClinVar
1-169701571-C-A		not specified	Uncertain significance (Jun 30, 2022)
1-169701668-T-C		not specified	Uncertain significance (Oct 14, 2023)
1-169701681-G-T		not specified	Uncertain significance (Jan 03, 2022)
1-169703321-T-G		not specified	Uncertain significance (Sep 07, 2022)
1-169703422-A-G		not specified	Uncertain significance (Dec 21, 2023)
1-169704603-A-G		not specified	Uncertain significance (Dec 16, 2023)
1-169704637-A-T		not specified	Uncertain significance (Nov 03, 2022)
1-169704686-G-C		not specified	Uncertain significance (Dec 28, 2023)
1-169704733-C-G			Benign (Apr 24, 2018)
1-169707344-A-T		not specified	Uncertain significance (Aug 16, 2021)
1-169707357-G-A		not specified	Uncertain significance (Dec 03, 2021)
1-169707371-A-G		not specified	Uncertain significance (Jan 12, 2024)
1-169707414-C-G		not specified	Uncertain significance (Jul 12, 2023)
1-169707428-C-T		not specified	Uncertain significance (May 12, 2024)
1-169708538-A-G			Benign (Dec 31, 2019)
1-169708606-C-T		not specified	Uncertain significance (Jan 18, 2022)
1-169708639-G-A		not specified	Uncertain significance (Jun 17, 2024)
1-169708716-C-T		not specified	Likely benign (Dec 01, 2022)
1-169708782-G-C			Benign (May 13, 2018)
1-169710455-C-A			Benign (Feb 16, 2018)
1-169725794-G-C		not specified	Uncertain significance (Mar 11, 2022)
1-169726704-C-T		not specified	Uncertain significance (Jun 22, 2024)
1-169726717-G-A		not specified	Uncertain significance (Dec 21, 2023)
1-169726729-G-A		Coronary artery disorder	Benign (May 12, 2022)
1-169726764-G-C		not specified	Uncertain significance (Jun 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FIRRM	protein_coding	protein_coding	ENST00000286031	22	191977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.35e-10	0.999	125593	0	154	125747	0.000613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.572	396	429	0.922	0.0000204	5594
Missense in Polyphen		99	127.88	0.77414		1826
Synonymous	0.888	141	155	0.909	0.00000759	1601
Loss of Function	3.00	23	44.6	0.515	0.00000196	559

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000997	0.000992
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000392	0.000381
Finnish	0.00130	0.00129
European (Non-Finnish)	0.000604	0.000598
Middle Eastern	0.000392	0.000381
South Asian	0.000590	0.000588
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.906
• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.21

Haploinsufficiency Scores

• pHI: 0.457
• hipred: N
• hipred_score: 0.377
• ghis: 0.617

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: BC055324
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; homeostasis/metabolism phenotype; skeleton phenotype