PEAK3

PEAK family member 3

Basic information

Region (hg38): 19:2274631-2282175

Previous symbols: [ "C19orf35" ]

Links

ENSG00000188305 ∙ NCBI:374872 ∙ OMIM:618526 ∙ HGNC:24793 ∙ Uniprot:Q6ZS72 ∙ 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 PEAK3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PEAK3 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						0
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in PEAK3

This is a list of pathogenic ClinVar variants found in the PEAK3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-2275834-C-G		not specified	Uncertain significance (Jul 28, 2021)
19-2276297-C-T		not specified	Uncertain significance (Sep 30, 2021)
19-2276324-G-T		not specified	Uncertain significance (Oct 12, 2021)
19-2276372-C-T		not specified	Uncertain significance (Jul 09, 2021)
19-2276414-G-T		not specified	Uncertain significance (Oct 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PEAK3	protein_coding	protein_coding	ENST00000342063	3	7551

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00215	0.532	123911	0	13	123924	0.0000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.857	213	251	0.848	0.0000181	2833
Missense in Polyphen		52	62.389	0.83348		787
Synonymous	1.20	111	128	0.866	0.0000101	1133
Loss of Function	0.198	4	4.45	0.899	1.90e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000338	0.000314
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000617	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.0000522	0.0000447
Middle Eastern	0.0000617	0.0000545
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.225
• hipred: N
• hipred_score: 0.180
• ghis: 0.495

Essentials

• essential_gene_gene_trap: N