ZNF311

zinc finger protein 311, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:28994785-29005316

Links

ENSG00000197935 ∙ NCBI:282890 ∙ ∙ HGNC:13847 ∙ Uniprot:Q5JNZ3 ∙ 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 ZNF311 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF311 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			31	2		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	2	0

Variants in ZNF311

This is a list of pathogenic ClinVar variants found in the ZNF311 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-28995024-C-T		not specified	Uncertain significance (May 16, 2023)
6-28995083-T-C		not specified	Uncertain significance (Jul 27, 2024)
6-28995102-G-A		not specified	Uncertain significance (Aug 10, 2024)
6-28995155-C-A		not specified	Uncertain significance (Dec 13, 2021)
6-28995206-A-G		not specified	Uncertain significance (Jul 02, 2024)
6-28995209-A-T		not specified	Uncertain significance (Dec 15, 2022)
6-28995301-A-C		not specified	Uncertain significance (May 31, 2023)
6-28995306-G-T		not specified	Uncertain significance (Dec 09, 2024)
6-28995320-C-G		not specified	Uncertain significance (Apr 26, 2023)
6-28995365-C-T		not specified	Likely benign (Feb 13, 2023)
6-28995426-G-A		not specified	Uncertain significance (Nov 13, 2024)
6-28995438-T-G		not specified	Uncertain significance (Oct 14, 2021)
6-28995519-C-T		not specified	Uncertain significance (May 17, 2023)
6-28995674-T-C		not specified	Uncertain significance (Feb 16, 2023)
6-28995677-T-C		not specified	Uncertain significance (Feb 13, 2023)
6-28995687-G-A		not specified	Uncertain significance (Oct 30, 2024)
6-28995709-G-C		not specified	Uncertain significance (Dec 06, 2022)
6-28995786-T-C		not specified	Uncertain significance (Feb 22, 2023)
6-28995866-C-T		not specified	Uncertain significance (Jan 04, 2022)
6-28995920-C-T		not specified	Uncertain significance (Aug 21, 2023)
6-28995939-C-T		not specified	Uncertain significance (Dec 21, 2023)
6-28995953-T-C		not specified	Uncertain significance (Jan 05, 2022)
6-28995999-C-T		not specified	Uncertain significance (Oct 03, 2023)
6-28996013-G-C		not specified	Uncertain significance (Jun 24, 2022)
6-28996058-C-T		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF311	protein_coding	protein_coding	ENST00000377179	6	10532

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-8	0.939	124882	1	118	125001	0.000476

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.828	307	351	0.876	0.0000178	4437
Missense in Polyphen		83	101.35	0.81892		1323
Synonymous	2.18	93	124	0.751	0.00000599	1181
Loss of Function	1.92	17	27.9	0.609	0.00000175	345

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00342	0.00320
Ashkenazi Jewish	0.0000999	0.0000997
East Asian	0.000330	0.000327
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000208	0.000204
Middle Eastern	0.000330	0.000327
South Asian	0.000363	0.000359
Other	0.000828	0.000818

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.768
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.98

Haploinsufficiency Scores

• pHI: 0.0745
• hipred: N
• hipred_score: 0.273
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.175

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