ZNF670-ZNF695

ZNF670-ZNF695 readthrough (NMD candidate)

Basic information

Region (hg38): 1:246945547-247078811

Links

ENSG00000135747 ∙ NCBI:100533111 ∙ ∙ HGNC:49200 ∙ ∙ ∙ 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 ZNF670-ZNF695 gene.

• Inborn genetic diseases (41 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF670-ZNF695 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			40	1		41
Total	0	0	40	1	0

Variants in ZNF670-ZNF695

This is a list of pathogenic ClinVar variants found in the ZNF670-ZNF695 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-246987026-A-G		not specified	Uncertain significance (Nov 17, 2023)
1-246987027-T-G		not specified	Uncertain significance (Jun 16, 2023)
1-246987052-C-T		not specified	Uncertain significance (Feb 12, 2024)
1-246987131-T-C		not specified	Uncertain significance (Dec 21, 2023)
1-246987265-A-G		not specified	Uncertain significance (Apr 08, 2024)
1-246987302-G-T		not specified	Uncertain significance (Mar 08, 2024)
1-246987314-T-A		not specified	Uncertain significance (Sep 25, 2023)
1-246987353-C-T		not specified	Uncertain significance (Dec 11, 2023)
1-246987415-A-C		not specified	Uncertain significance (Mar 11, 2022)
1-246987457-C-T		not specified	Likely benign (Sep 14, 2022)
1-246987496-G-C		not specified	Uncertain significance (Aug 02, 2023)
1-246987502-T-C		not specified	Uncertain significance (Feb 27, 2023)
1-246987527-C-T		not specified	Uncertain significance (Jun 16, 2023)
1-246987562-T-C		not specified	Uncertain significance (Jun 12, 2023)
1-246987590-G-A		not specified	Uncertain significance (Dec 05, 2022)
1-246987632-G-C		not specified	Uncertain significance (Dec 13, 2022)
1-246987638-C-G		not specified	Uncertain significance (Jul 09, 2021)
1-246987646-T-C		not specified	Uncertain significance (Dec 12, 2023)
1-246987658-T-A		not specified	Uncertain significance (Dec 21, 2022)
1-246987701-C-G		not specified	Uncertain significance (May 05, 2023)
1-246987712-T-G		not specified	Uncertain significance (Dec 27, 2023)
1-246987760-C-A		not specified	Uncertain significance (Jun 11, 2024)
1-246987790-C-G		not specified	Uncertain significance (Jan 18, 2023)
1-246987826-C-T		not specified	Likely benign (Jan 04, 2024)
1-246987847-T-C		not specified	Uncertain significance (May 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF670-ZNF695	protein_coding	protein_coding	ENST00000366503	4	133265

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000345	0.390	125733	0	13	125746	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.464	221	202	1.09	0.00000940	2586
Missense in Polyphen		70	62.736	1.1158		830
Synonymous	1.60	52	68.9	0.755	0.00000316	680
Loss of Function	-0.0834	5	4.80	1.04	2.03e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000873	0.0000873
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000648	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000359	0.0000352
Middle Eastern	0.0000648	0.0000544
South Asian	0.000171	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0764
• ghis: 0.625

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Molecular function: nucleic acid binding