WDR97

WD repeat domain 97, the group of WD repeat domain containing

Basic information

Region (hg38): 8:144107726-144118328

Previous symbols: [ "KIAA1875" ]

Links

ENSG00000179698 ∙ NCBI:340390 ∙ ∙ HGNC:26959 ∙ Uniprot:A6NE52 ∙ 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 WDR97 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR97 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4		4
missense				2		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	0	6	0

Variants in WDR97

This is a list of pathogenic ClinVar variants found in the WDR97 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-144107816-G-A			Likely benign (Jun 01, 2022)
8-144108637-G-A			Likely benign (Apr 01, 2023)
8-144109537-G-A			Likely benign (Mar 01, 2023)
8-144111127-G-C			Likely benign (Jul 01, 2022)
8-144114280-A-G			Likely benign (Feb 01, 2023)
8-144114893-C-T			Likely benign (Jul 01, 2022)
8-144116210-C-T			Likely benign (Apr 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR97	protein_coding	protein_coding	ENST00000323662	24	10590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.10e-23	0.877	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.17	708	988	0.716	0.0000714	10188
Missense in Polyphen		193	282.33	0.6836		3044
Synonymous	3.97	368	478	0.769	0.0000376	3572
Loss of Function	2.50	47	69.5	0.676	0.00000351	738

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0982

Haploinsufficiency Scores

• pHI: 0.132
• ghis: 0.511

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Gm35339