ZNF750

zinc finger protein 750

Basic information

Region (hg38): 17:82829433-82840022

Links

ENSG00000141579 ∙ NCBI:79755 ∙ OMIM:610226 ∙ HGNC:25843 ∙ Uniprot:Q32MQ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• seborrhea-like dermatitis with psoriasiform elements (Strong), mode of inheritance: AD
• seborrhea-like dermatitis with psoriasiform elements (Supportive), mode of inheritance: AD
• seborrhea-like dermatitis with psoriasiform elements (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Seborrhea-like dermatitis with psoriasiform elements	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	16751772

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF750 gene.

• Inborn genetic diseases (36 variants)
• not provided (21 variants)
• Seborrhea-like dermatitis with psoriasiform elements (1 variants)
• Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF750 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				2	5	7
missense			32	6	4	42
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			1		5	6
Total	0	0	34	8	14

Variants in ZNF750

This is a list of pathogenic ClinVar variants found in the ZNF750 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-82829995-TTTTG-T			Benign (Jun 19, 2021)
17-82830203-T-G		not specified	Uncertain significance (Jan 24, 2024)
17-82830205-C-G		not specified	Uncertain significance (Oct 26, 2022)
17-82830242-C-T		not specified	Uncertain significance (Mar 21, 2023)
17-82830248-C-G		not specified	Uncertain significance (Apr 07, 2022)
17-82830296-A-T			Likely benign (Apr 23, 2018)
17-82830297-T-C		not specified	Uncertain significance (Feb 27, 2023)
17-82830302-C-T		not specified	Uncertain significance (Jan 05, 2022)
17-82830330-C-T		not specified	Likely benign (Jul 06, 2021)
17-82830338-G-A		not specified	Uncertain significance (Mar 20, 2023)
17-82830344-G-C		not specified	Conflicting classifications of pathogenicity (May 11, 2022)
17-82830383-T-C		not specified	Uncertain significance (Nov 03, 2023)
17-82830408-C-T		not specified	Uncertain significance (Aug 11, 2022)
17-82830416-G-A		not specified	Uncertain significance (Jan 26, 2023)
17-82830433-G-T		not specified	Uncertain significance (Jan 26, 2023)
17-82830501-C-T		not specified	Uncertain significance (Mar 25, 2022)
17-82830581-G-C		not specified	Uncertain significance (Nov 21, 2022)
17-82830589-T-C			Benign (Jun 09, 2021)
17-82830599-G-T		not specified	Uncertain significance (Jan 26, 2022)
17-82830608-G-C		not specified	Uncertain significance (May 16, 2023)
17-82830615-C-T		not specified	Uncertain significance (Jun 07, 2023)
17-82830616-A-G			Benign (Jun 09, 2021)
17-82830670-G-A			Likely benign (Oct 01, 2023)
17-82830704-T-C		not specified	Uncertain significance (Jan 16, 2024)
17-82830717-G-C		not specified	Uncertain significance (May 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF750	protein_coding	protein_coding	ENST00000269394	2	11144

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.866	0.134	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0697	427	423	1.01	0.0000274	4651
Missense in Polyphen		97	127.63	0.76		1546
Synonymous	-0.917	215	199	1.08	0.0000159	1573
Loss of Function	3.16	2	15.4	0.130	8.28e-7	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression. {ECO:0000269|PubMed:22364861}.
• Disease: DISEASE: Seborrhea-like dermatitis with psoriasiform elements (SLDP) [MIM:610227]: Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders. {ECO:0000269|PubMed:16751772}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0889

Intolerance Scores

• loftool: 0.368
• rvis_EVS: 0.32
• rvis_percentile_EVS: 72.81

Haploinsufficiency Scores

• pHI: 0.0702
• hipred: N
• hipred_score: 0.340
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0419

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp750

Gene ontology

• Biological process: epidermis development;cell differentiation;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription activator activity, RNA polymerase II-specific;protein binding;metal ion binding;promoter-specific chromatin binding