NUTM2E

Gene

NUT family member 2E

Gene summary

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

Previous symbols:

FAM22E

MANE transcript

NM_001355263.2

Inheritance

—

ClinVar variants

B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.65

Max pathogenic AF

—

Genomic locus

chr10:79,826,739-79,850,878

External References & Databases

Ensembl (ENSG00000228570)

Transcript & Mutation Effects

hg38 • Region Span ~24.1 kb

Loading mutation effect viewer...

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 NUTM2E variants in ClinVar

1 Conditions Cataloged

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001355263.2. 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				4 clinvar		4
missense				2 clinvar		2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	6	0	6

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001355263.2	RefSeq	NP_001342192.1	7	MANE Select
ENST00000429984.5	Ensembl	ENSP00000407521.2	7	MANE Select
ENST00000602967.5	Ensembl	ENSP00000473558.1	6	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000429984
Coding exons: 7
Length: 9519
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.04	117	89.4	1.31	0.00000504	5460
Missense (PolyPhen)		17	20.195	0.84178		1759
Synonymous	-2.23	53	36.0	1.47	0.00000204	1876
Loss of Function	-1.15	6	3.63	1.65	1.74e-7	254

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Gene Damage Prediction

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