ZNF627

zinc finger protein 627, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:11559373-11619161

Links

ENSG00000198551 ∙ NCBI:199692 ∙ OMIM:612248 ∙ HGNC:30570 ∙ Uniprot:Q7L945 ∙ 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 ZNF627 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF627 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			19
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	0	0

Variants in ZNF627

This is a list of pathogenic ClinVar variants found in the ZNF627 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11575012-A-G		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 22, 2022)
19-11575015-G-A		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 30, 2021)
19-11575017-C-A		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Nov 16, 2020)
19-11575017-C-T		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 22, 2022)
19-11575018-T-C		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 02, 2022)
19-11575023-C-T		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Sep 10, 2021)
19-11575024-G-A		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (May 12, 2022)
19-11575024-G-C		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Jul 05, 2022)
19-11575025-C-T		Spondyloenchondrodysplasia with immune dysregulation	Likely benign (Sep 27, 2022)
19-11575028-C-T		Spondyloenchondrodysplasia with immune dysregulation	Likely benign (Jul 31, 2023)
19-11575029-G-A		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 22, 2022)
19-11575033-G-A		Spondyloenchondrodysplasia with immune dysregulation • ACP5-related disorder	Benign/Likely benign (Jan 31, 2024)
19-11575034-C-T		Spondyloenchondrodysplasia with immune dysregulation	Likely benign (Dec 11, 2023)
19-11575038-G-C		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Oct 17, 2022)
19-11575039-T-C		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Jun 03, 2022)
19-11575058-C-T		Spondyloenchondrodysplasia with immune dysregulation	Likely benign (Sep 25, 2022)
19-11575066-C-T		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Jun 27, 2022)
19-11575067-G-C		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Oct 05, 2022)
19-11575068-A-T		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 05, 2022)
19-11575069-T-A		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Feb 11, 2020)
19-11575074-G-A		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Mar 07, 2020)
19-11575079-A-G		Spondyloenchondrodysplasia with immune dysregulation	Likely benign (Jan 15, 2022)
19-11575086-T-C		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Jul 19, 2022)
19-11575105-C-T		Inborn genetic diseases	Uncertain significance (Apr 25, 2022)
19-11575116-C-T		Spondyloenchondrodysplasia with immune dysregulation	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF627	protein_coding	protein_coding	ENST00000361113	4	59762

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.331	0.612	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.726	226	259	0.873	0.0000137	3043
Missense in Polyphen		81	104.92	0.77204		1252
Synonymous	0.0862	85	86.0	0.988	0.00000454	826
Loss of Function	1.48	1	4.32	0.231	1.83e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
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)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.706
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.56

Haploinsufficiency Scores

• pHI: 0.201
• hipred: N
• hipred_score: 0.273
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp867

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