NUTM2F

Gene

NUT family member 2F

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

FAM22F

MANE transcript

NM_017561.2

Inheritance

—

ClinVar variants

U:141B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr9:94,318,198-94,328,644

External References & Databases

Ensembl (ENSG00000130950)

Transcript & Mutation Effects

hg38 • Region Span ~10.4 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 NUTM2F variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 155

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017561.2. 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				3 clinvar		3
missense			141 clinvar	13 clinvar		154
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	141	16	0	157

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017561.2	RefSeq	NP_060031.1	7	MANE Select
ENST00000253262.9	Ensembl	ENSP00000253262.4	7	MANE Select

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000253262
Coding exons: 7
Length: 13322
Individuals with no LoFs: 124765
Homozygous LoFs: 1
Heterozygous LoFs: 73
Defined: 124839
p: 0.000296

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.408	406	384	1.06	0.0000220	4729
Missense (PolyPhen)		113	108.93	1.0373		1579
Synonymous	0.521	159	168	0.949	0.0000105	1656
Loss of Function	0.831	15	18.9	0.794	0.00000104	207

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00089	0.00088	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00032	0.00031	rare
South Asian	0.00029	0.00029	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

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

Gene Damage Prediction

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