ANGEL1

protein-coding

angel homolog 1

Gene summary

Enables RNA 2',3'-cyclic phosphatase activity; eukaryotic initiation factor 4E binding activity; and protein domain specific binding activity. Involved in nuclear-transcribed mRNA catabolic process, non-stop decay. Located in several cellular components, including cis-Golgi network; endoplasmic reticulum; and perinuclear region of cytoplasm. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0759

MANE transcript

NM_015305.4

Inheritance

—

ClinVar variants

U:98B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr14:76,781,733-76,826,246

External References & Databases

Ensembl (ENSG00000013523)

Transcript & Mutation Effects

hg38 • Region Span ~44.5 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 ANGEL1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 98

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015305.4. 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			95 clinvar	3 clinvar		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	98	3	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015305.4	RefSeq	NP_056120.2	10	MANE Select
ENST00000251089.8	Ensembl	ENSP00000251089.3	10	MANE Select
NM_001370746.1	RefSeq	NP_001357675.1	12	Standard
NM_001370747.1	RefSeq	NP_001357676.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

eukaryotic initiation factor 4E binding
protein domain specific binding

Cellular Component

nucleus
endoplasmic reticulum
cis-Golgi network
cytosol
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000251089
Coding exons: 10
Length: 39002
Individuals with no LoFs: 125358
Homozygous LoFs: 0
Heterozygous LoFs: 390
Defined: 125748
p: 0.00155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.924	331	382	0.867	0.0000209	4330
Missense (PolyPhen)		101	135.48	0.74547		1587
Synonymous	-0.0196	152	152	1.00	0.00000801	1366
Loss of Function	2.61	19	35.9	0.530	0.00000212	363

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.0011	0.0011	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.00065	0.00065	rare
European (Non-Finnish)	0.0015	0.0015	notable
South Asian	0.0053	0.0053	notable
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0875

Intolerance Scores

LoFtool: 0.655
RVIS EVS: 0.58
RVIS percentile EVS: 82.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.305

Gene Damage Prediction

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