ZNF816-ZNF321P

protein-coding

ZNF816-ZNF321P readthrough

Gene summary

This locus represents naturally occurring read-through transcription between the zinc finger protein 816 (ZNF816) gene and the zinc finger protein 321 (ZNF321) pseudogene on chromosome 19. The read-through transcript encodes a KRAB domain-containing protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus encoded by exon structure from the downstream pseudogene. [provided by RefSeq, Jan 2011]

Previous symbols:

ZNF816-ZNF321

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:9

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 1.11

Max pathogenic AF

—

Genomic locus

chr19:52,928,475-52,962,823

External References & Databases

Ensembl (ENSG00000221874)

NCBI Gene (100529240)

HGNC:38879

GenCC

ClinVar (ZNF816-ZNF321P)

Transcript & Mutation Effects

hg38 • Region Span ~34.3 kb

Loading mutation effect viewer...

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 ZNF816-ZNF321P variants in ClinVar

2 Conditions Cataloged

Inborn genetic diseasesTotal: 29

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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						0
missense			9 clinvar			9
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	9	0	0	9

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001202473.2	RefSeq	NP_001189402.1	3	Standard
ENST00000391777.3	Ensembl	ENSP00000375656.3	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription, DNA-templated

Molecular Function

nucleic acid binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000391777
Coding exons: 3
Length: 34349
Individuals with no LoFs: 125681
Homozygous LoFs: 0
Heterozygous LoFs: 56
Defined: 125737
p: 0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0165	122	123	0.996	0.00000617	1571
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00071	0.00058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0016	0.0016	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0	0.0	absent
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.16
RVIS percentile EVS: 41.64

Essentials

Essential (CRISPR): N