UBL7

protein-coding

ubiquitin like 7

Gene summary

Enables protein-macromolecule adaptor activity. Involved in antiviral innate immune response. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032907.5

Inheritance

—

ClinVar variants

U:53B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.43

Max pathogenic AF

—

Genomic locus

chr15:74,445,977-74,461,182

External References & Databases

Ensembl (ENSG00000138629)

Transcript & Mutation Effects

hg38 • Region Span ~15.2 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 UBL7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 45

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032907.5. 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				1 clinvar	1 clinvar	2
missense			46 clinvar	1 clinvar	1 clinvar	48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	53	2	2	57

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 117 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032907.5	RefSeq	NP_116296.1	10	MANE Select
ENST00000395081.7	Ensembl	ENSP00000378518.2	10	MANE Select
NM_001286739.2	RefSeq	NP_001273668.1	10	Standard
NM_001286740.1	RefSeq	NP_001273669.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000567435
Coding exons: 10
Length: 15206
Individuals with no LoFs: 125694
Homozygous LoFs: 0
Heterozygous LoFs: 54
Defined: 125748
p: 0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.29	166	220	0.756	0.0000121	2445
Missense (PolyPhen)		53	67.806	0.78164		771
Synonymous	0.535	80	86.3	0.927	0.00000465	800
Loss of Function	2.31	8	18.8	0.425	9.83e-7	200

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.0011	0.0011	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000088	0.000070	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0885

Intolerance Scores

LoFtool: 0.762
RVIS EVS: -0.45
RVIS percentile EVS: 24.19

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.949

Gene Damage Prediction

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