ZNF317

zinc finger protein 317, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:9140396-9163424

Links

ENSG00000130803 ∙ NCBI:57693 ∙ OMIM:613864 ∙ HGNC:13507 ∙ Uniprot:Q96PQ6 ∙ 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 ZNF317 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF317 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in ZNF317

This is a list of pathogenic ClinVar variants found in the ZNF317 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9156615-C-T		not specified	Likely benign (Aug 15, 2023)
19-9156620-A-C		not specified	Uncertain significance (Jan 31, 2022)
19-9158827-T-G		not specified	Uncertain significance (Dec 27, 2022)
19-9158898-G-T		not specified	Uncertain significance (Sep 26, 2023)
19-9158904-C-T		not specified	Uncertain significance (Mar 01, 2024)
19-9160183-C-T		not specified	Uncertain significance (Oct 12, 2022)
19-9160184-A-G		not specified	Uncertain significance (Sep 01, 2021)
19-9160231-C-T		not specified	Uncertain significance (Sep 06, 2022)
19-9160234-C-T		not specified	Uncertain significance (Dec 01, 2023)
19-9160284-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-9160381-G-A		not specified	Uncertain significance (Jun 16, 2023)
19-9160450-G-A		not specified	Uncertain significance (Jun 03, 2022)
19-9160612-G-A		not specified	Uncertain significance (Jun 11, 2021)
19-9160620-G-C		not specified	Uncertain significance (Oct 05, 2023)
19-9160622-G-A		not specified	Uncertain significance (Feb 07, 2023)
19-9160640-G-A		not specified	Uncertain significance (Mar 01, 2023)
19-9160702-G-A		not specified	Uncertain significance (May 05, 2023)
19-9160793-A-G		not specified	Uncertain significance (Aug 14, 2023)
19-9160852-G-T		not specified	Likely benign (Jul 20, 2021)
19-9160859-G-A		not specified	Uncertain significance (Feb 22, 2023)
19-9160883-T-C		not specified	Uncertain significance (Jul 06, 2021)
19-9160906-C-T		not specified	Uncertain significance (Sep 21, 2023)
19-9160990-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-9161032-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-9161077-G-A		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF317	protein_coding	protein_coding	ENST00000247956	6	23045

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000578	0.995	125717	0	30	125747	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	302	374	0.807	0.0000253	3963
Missense in Polyphen		115	167.29	0.68744		1874
Synonymous	0.685	153	164	0.932	0.0000137	1105
Loss of Function	2.46	11	24.0	0.459	0.00000130	269

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000674	0.000673
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000218	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000882	0.0000879
Middle Eastern	0.000218	0.000217
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.596
• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.61

Haploinsufficiency Scores

• pHI: 0.171
• hipred: Y
• hipred_score: 0.524
• ghis: 0.677

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.358

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp317

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;protein binding;metal ion binding