ZNF750

zinc finger protein 750

Basic information

Region (hg38): 17:82829434-82840022

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.

not_specified (120 variants)
not_provided (18 variants)
ZNF750-related_disorder (7 variants)
Seborrhea-like_dermatitis_with_psoriasiform_elements (5 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. These statistics are base on transcript: NM_000024702.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				7 clinvar	3 clinvar	10
missense			112 clinvar	13 clinvar	5 clinvar	130
nonsense						0
start loss						0
frameshift	1 clinvar		1 clinvar			2
splice donor/acceptor (+/-2bp)						0
Total	1	0	113	20	8

Loading clinvar variants...

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
Phenotype

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