ZNF841

zinc finger protein 841, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52064464-52095765

Links

ENSG00000197608 ∙ NCBI:284371 ∙ ∙ HGNC:27611 ∙ Uniprot:Q6ZN19 ∙ 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 ZNF841 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF841 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			44	3		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	3	0

Variants in ZNF841

This is a list of pathogenic ClinVar variants found in the ZNF841 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52065126-G-A		not specified	Uncertain significance (Apr 18, 2023)
19-52065184-C-T		not specified	Likely benign (Aug 12, 2021)
19-52065217-G-A		not specified	Uncertain significance (Apr 14, 2022)
19-52065300-C-G		not specified	Uncertain significance (May 02, 2024)
19-52065304-G-A		not specified	Uncertain significance (Jun 27, 2022)
19-52065324-T-C		not specified	Uncertain significance (Dec 12, 2023)
19-52065432-C-A		not specified	Uncertain significance (Nov 09, 2022)
19-52065443-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-52065448-G-C		not specified	Uncertain significance (Apr 04, 2023)
19-52065461-A-C		not specified	Uncertain significance (Mar 30, 2024)
19-52065463-T-C		not specified	Uncertain significance (Oct 06, 2021)
19-52065468-C-T		not specified	Uncertain significance (Sep 16, 2021)
19-52065469-G-A		not specified	Uncertain significance (Dec 27, 2022)
19-52065544-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-52065889-G-A		not specified	Uncertain significance (Jan 24, 2024)
19-52065984-A-G		not specified	Uncertain significance (Nov 03, 2023)
19-52066015-T-C		not specified	Uncertain significance (Apr 17, 2024)
19-52066021-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-52066032-C-T		not specified	Uncertain significance (Mar 07, 2023)
19-52066062-A-G		not specified	Uncertain significance (Dec 02, 2022)
19-52066162-A-G		not specified	Uncertain significance (May 17, 2023)
19-52066321-C-T		not specified	Uncertain significance (Nov 09, 2021)
19-52066354-C-T		not specified	Uncertain significance (Mar 20, 2023)
19-52066361-A-C		not specified	Uncertain significance (Jul 05, 2023)
19-52066365-A-G		not specified	Uncertain significance (Sep 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF841	protein_coding	protein_coding	ENST00000389534	4	31300

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0239	0.788	125659	0	20	125679	0.0000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.794	453	503	0.900	0.0000269	6120
Missense in Polyphen		131	165.34	0.79231		2132
Synonymous	0.694	159	171	0.932	0.00000873	1668
Loss of Function	0.968	3	5.44	0.552	2.30e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000151	0.000150
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.36

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.179

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding