ZNF71

zinc finger protein 71, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:56595299-56626481

Links

ENSG00000197951 ∙ NCBI:58491 ∙ OMIM:194545 ∙ HGNC:13141 ∙ Uniprot:Q9NQZ8 ∙ 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 ZNF71 gene.

• Inborn genetic diseases (23 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF71 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			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	1

Variants in ZNF71

This is a list of pathogenic ClinVar variants found in the ZNF71 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-56621313-A-T		not specified	Uncertain significance (Jun 30, 2022)
19-56621319-C-T			Benign (Jul 06, 2018)
19-56621348-G-A		not specified	Uncertain significance (Aug 04, 2023)
19-56621375-G-A		not specified	Uncertain significance (Mar 04, 2024)
19-56621382-G-T		not specified	Uncertain significance (May 05, 2023)
19-56621414-A-C		not specified	Uncertain significance (Jul 25, 2023)
19-56621420-C-T		not specified	Uncertain significance (Dec 06, 2022)
19-56621430-C-T		not specified	Uncertain significance (Jun 29, 2022)
19-56621432-C-T		not specified	Uncertain significance (Mar 04, 2024)
19-56621433-G-A		not specified	Uncertain significance (Jul 20, 2021)
19-56621496-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-56621541-G-A		not specified	Uncertain significance (Jun 16, 2023)
19-56621574-C-T		not specified	Uncertain significance (Jul 14, 2023)
19-56621588-G-T		not specified	Uncertain significance (Oct 05, 2023)
19-56621607-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-56621642-A-G		not specified	Uncertain significance (Oct 30, 2023)
19-56621660-G-A		not specified	Uncertain significance (Apr 12, 2023)
19-56621945-G-A		not specified	Uncertain significance (Dec 17, 2023)
19-56621984-G-C		not specified	Uncertain significance (May 17, 2023)
19-56622006-A-G		not specified	Uncertain significance (Oct 12, 2022)
19-56622020-G-C		not specified	Uncertain significance (Aug 15, 2023)
19-56622023-G-T		not specified	Uncertain significance (Jan 26, 2023)
19-56622057-T-C		not specified	Uncertain significance (May 04, 2023)
19-56622059-A-G		not specified	Uncertain significance (May 06, 2022)
19-56622104-C-T		not specified	Uncertain significance (Apr 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF71	protein_coding	protein_coding	ENST00000328070	1	31218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-8	0.422	125552	0	195	125747	0.000776

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.693	308	344	0.895	0.0000251	3204
Missense in Polyphen		131	179.3	0.73061		1560
Synonymous	0.673	154	165	0.933	0.0000142	936
Loss of Function	0.865	14	18.0	0.780	9.42e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00101	0.00101
Ashkenazi Jewish	0.00258	0.00258
East Asian	0.000598	0.000598
Finnish	0.0000936	0.0000924
European (Non-Finnish)	0.000873	0.000862
Middle Eastern	0.000598	0.000598
South Asian	0.000786	0.000752
Other	0.00102	0.000978

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: 0.724
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.49

Haploinsufficiency Scores

• pHI: 0.234
• hipred: N
• hipred_score: 0.238
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.728

Gene Damage Prediction

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

Gene ontology

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