ZNF750
Basic information
Region (hg38): 17:82829434-82840022
Links
Phenotypes
GenCC
Source:
- 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:
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
- 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 | 10 | |||||
missense | 112 | 13 | 130 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 1 | 0 | 113 | 20 | 8 |
GnomAD
Source:
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:
- 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