ZNF737

zinc finger protein 737, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:20535824-20565809

Links

ENSG00000237440 ∙ NCBI:100129842 ∙ OMIM:603984 ∙ HGNC:32468 ∙ Uniprot:O75373 ∙ 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 ZNF737 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF737 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				1		1
missense			44	1		45
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	2	0

Variants in ZNF737

This is a list of pathogenic ClinVar variants found in the ZNF737 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-20544609-T-C		not specified	Uncertain significance (Mar 01, 2024)
19-20544611-T-C		not specified	Uncertain significance (Jun 10, 2024)
19-20544629-G-A		not specified	Uncertain significance (Jan 23, 2024)
19-20544633-G-A		not specified	Uncertain significance (Apr 16, 2024)
19-20544653-C-T		not specified	Uncertain significance (Aug 13, 2021)
19-20544667-T-A		not specified	Uncertain significance (Jan 03, 2022)
19-20544680-G-A		not specified	Uncertain significance (Sep 22, 2023)
19-20544681-G-A		not specified	Uncertain significance (Mar 30, 2022)
19-20544780-G-A		not specified	Uncertain significance (Nov 08, 2022)
19-20544839-C-A		not specified	Uncertain significance (Jun 30, 2023)
19-20544860-G-C		not specified	Uncertain significance (Jun 29, 2023)
19-20544861-T-C		not specified	Uncertain significance (Dec 13, 2023)
19-20544879-T-C		not specified	Uncertain significance (Jun 29, 2023)
19-20544881-G-T		not specified	Uncertain significance (Feb 15, 2023)
19-20544903-A-C		not specified	Uncertain significance (Sep 27, 2021)
19-20544906-C-T		not specified	Uncertain significance (May 08, 2024)
19-20544933-G-A		not specified	Uncertain significance (Jul 27, 2021)
19-20544949-G-C		not specified	Uncertain significance (Nov 29, 2023)
19-20544977-G-A		not specified	Uncertain significance (Mar 31, 2022)
19-20544991-T-A		not specified	Uncertain significance (Jun 10, 2024)
19-20545039-C-G		not specified	Uncertain significance (Apr 06, 2024)
19-20545101-G-A		not specified	Uncertain significance (Jul 21, 2021)
19-20545134-T-C		not specified	Uncertain significance (Mar 20, 2023)
19-20545247-C-T		not specified	Uncertain significance (Mar 16, 2024)
19-20545266-A-G		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF737	protein_coding	protein_coding	ENST00000427401	4	29985

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000414	0.424	125734	0	9	125743	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.43	344	277	1.24	0.0000134	3522
Missense in Polyphen		98	94.123	1.0412		1266
Synonymous	-1.76	119	96.9	1.23	0.00000477	939
Loss of Function	0.0270	5	5.07	0.987	2.14e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000364	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

• rvis_EVS: 2.22
• rvis_percentile_EVS: 98.14

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.148
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0580

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