ZSWIM8

protein-coding

zinc finger SWIM-type containing 8, the group of Zinc fingers SWIM-type

Gene summary

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including positive regulation of miRNA catabolic process; protein catabolic process; and target-directed miRNA degradation. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0913

MANE transcript

NM_001367799.1

Inheritance

—

ClinVar variants

U:199B:6

Top phenotype

Neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0.06

Max pathogenic AF

—

Genomic locus

chr10:73,785,606-73,801,797

External References & Databases

Ensembl (ENSG00000214655)

Transcript & Mutation Effects

hg38 • Region Span ~16.2 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 ZSWIM8 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 181

not providedTotal: 5

Neurodevelopmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001367799.1. 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			9 clinvar	3 clinvar		12
missense			182 clinvar	3 clinvar		185
nonsense						0
start loss						0
frameshift			4 clinvar			4
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	199	6	0	205

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367799.1	RefSeq	NP_001354728.1	26	MANE Select
ENST00000604729.6	Ensembl	ENSP00000474944.1	26	MANE Select
NM_001242487.2	RefSeq	NP_001229416.1	26	Standard
NM_001242488.2	RefSeq	NP_001229417.1	26	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of axon guidance

Molecular Function

zinc ion binding

Cellular Component

Cul2-RING ubiquitin ligase complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398706
Coding exons: 26
Length: 16212
Individuals with no LoFs: 124624
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 124644
p: 0.0000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	5.14	612	1.09e+3	0.562	0.0000656	11748
Missense (PolyPhen)		213	564.77	0.37714		6115
Synonymous	0.356	425	434	0.978	0.0000256	3921
Loss of Function	7.73	5	79.3	0.0631	0.00000435	848

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.00042	0.00042	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.106

Intolerance Scores

RVIS EVS: -1.95
RVIS percentile EVS: 1.89

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S

Gene Damage Prediction

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