ZNF750

zinc finger protein 750

Basic information

Region (hg38): 17:82829434-82840022

Links

ENSG00000141579NCBI:79755OMIM:610226HGNC:25843Uniprot:Q32MQ0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Seborrhea-like dermatitis with psoriasiform elementsADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingDermatologic16751772

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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
ZNF750protein_codingprotein_codingENST00000269394 211144
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8660.134125740081257480.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.06974274231.010.00002744651
Missense in Polyphen97127.630.761546
Synonymous-0.9172151991.080.00001591573
Loss of Function3.16215.40.1308.28e-7188

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001160.000116
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004670.0000462
European (Non-Finnish)0.00002650.0000264
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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