ZNF812P

zinc finger protein 812, pseudogene, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:9689924-9694892

Previous symbols: [ "ZNF812" ]

Links

ENSG00000224689 ∙ NCBI:729648 ∙ ∙ HGNC:33242 ∙ ∙ ∙ 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 ZNF812P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF812P 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF812P	protein_coding	protein_coding	ENST00000457674	4	10853

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000225	0.0880	124918	12	806	125736	0.00326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.03	357	228	1.56	0.0000102	2984
Missense in Polyphen		132	92.409	1.4284		1292
Synonymous	-2.69	112	81.2	1.38	0.00000383	832
Loss of Function	-1.30	7	4.15	1.69	1.74e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0462	0.0462
Ashkenazi Jewish	0.000795	0.000794
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.00	0.00
South Asian	0.000197	0.000196
Other	0.00212	0.00212

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.430

Gene ontology

• Cellular component: nucleus