FIRRM

protein-coding

FIGNL1 interacting regulator of recombination and mitosis

Gene summary

Enables protein kinase binding activity. Involved in several processes, including chromosome segregation; interstrand cross-link repair; and regulation of protein kinase activity. Located in several cellular components, including midbody; nuclear lumen; and spindle midzone. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf112

MANE transcript

NM_001320047.2

Inheritance

—

ClinVar variants

U:13B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr1:169,662,007-169,854,080

External References & Databases

Ensembl (ENSG00000000460)

Transcript & Mutation Effects

hg38 • Region Span ~192.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FIRRM variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 5

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001320047.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			8 clinvar	2 clinvar	2 clinvar	12
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	13	2	2	17

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 68 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001320047.2	RefSeq	NP_001306976.1	22	MANE Select
ENST00000359326.9	Ensembl	ENSP00000352276.4	22	MANE Select
NM_001320048.2	RefSeq	NP_001306977.1	19	Standard
NM_001320050.2	RefSeq	NP_001306979.1	6	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000286031
Coding exons: 22
Length: 191977
Individuals with no LoFs: 125593
Homozygous LoFs: 0
Heterozygous LoFs: 154
Defined: 125747
p: 0.000613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.572	396	429	0.922	0.0000204	5594
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.00050	0.00049	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00039	0.00038	rare
Finnish	0.0013	0.0013	notable
European (Non-Finnish)	0.00060	0.00060	rare
South Asian	0.00059	0.00059	rare
Other	0.0012	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.906
RVIS EVS: -0.2
RVIS percentile EVS: 39.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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