ZSWIM8

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

Basic information

Region (hg38): 10:73785606-73801797

Previous symbols: [ "KIAA0913" ]

Links

ENSG00000214655 ∙ NCBI:23053 ∙ OMIM:619213 ∙ HGNC:23528 ∙ Uniprot:A7E2V4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZSWIM8 gene.

• not_specified (155 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSWIM8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001367799.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4	3		7
missense			146	3		149
nonsense						0
start loss						0
frameshift			3			3
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	155	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSWIM8	protein_coding	protein_coding	ENST00000398706	26	16212

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	9.13e-10	124624	0	20	124644	0.0000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	5.14	612	1.09e+3	0.562	0.0000656	11748
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000611	0.0000611
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000444	0.0000442
Middle Eastern	0.00	0.00
South Asian	0.000425	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.106

Intolerance Scores

• rvis_EVS: -1.95
• rvis_percentile_EVS: 1.89

Haploinsufficiency Scores

• pHI: 0.687
• hipred: Y
• hipred_score: 0.728
• ghis: 0.681

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zswim8

Gene ontology

• Biological process: regulation of axon guidance
• Cellular component: Cul2-RING ubiquitin ligase complex
• Molecular function: zinc ion binding