ZNF816-ZNF321P

ZNF816-ZNF321P readthrough

Basic information

Region (hg38): 19:52928475-52962823

Previous symbols: [ "ZNF816-ZNF321" ]

Links

ENSG00000221874 ∙ NCBI:100529240 ∙ ∙ HGNC:38879 ∙ ∙ ∙ 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 ZNF816-ZNF321P gene.

• Inborn genetic diseases (29 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF816-ZNF321P gene is commonly pathogenic or not. These statistics are base on transcript: . 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						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	9	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF816-ZNF321P	protein_coding	protein_coding	ENST00000391777	3	34349

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00124	0.421	125681	0	56	125737	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0165	122	123	0.996	0.00000617	1571
Missense in Polyphen		22	23.39	0.94056		368
Synonymous	-0.594	47	42.1	1.12	0.00000212	403
Loss of Function	-0.188	4	3.61	1.11	1.53e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000896	0.000893
Ashkenazi Jewish	0.00	0.00
East Asian	0.00160	0.00158
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00160	0.00158
South Asian	0.00	0.00
Other	0.000168	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• ghis: 0.406

Essentials

• essential_gene_CRISPR: N

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: nucleic acid binding