ZNF638
Basic information
Region (hg38): 2:71276561-71435069
Previous symbols: [ "ZFML" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (257 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF638 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014497.5. 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 | 3 | |||||
missense | 240 | 17 | 257 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 240 | 18 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF638 | protein_coding | protein_coding | ENST00000409544 | 27 | 158509 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 1.19e-8 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.575 | 1060 | 1.01e+3 | 1.05 | 0.0000507 | 13049 |
Missense in Polyphen | 258 | 298.35 | 0.86475 | 3968 | ||
Synonymous | -1.21 | 371 | 342 | 1.08 | 0.0000171 | 3708 |
Loss of Function | 7.77 | 8 | 85.6 | 0.0934 | 0.00000466 | 1178 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000185 | 0.000185 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.0000800 | 0.0000791 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Early regulator of adipogenesis that works as a transcription cofactor of CEBPs, controlling the expression of PPARG and probably of other proadipogenic genes, such as SREBF1 (By similarity). Binds to cytidine clusters in double-stranded DNA (PubMed:8647861). May also regulate alternative splicing of target genes during adipogenesis (By similarity). {ECO:0000250|UniProtKB:Q61464, ECO:0000269|PubMed:8647861}.;
Recessive Scores
- pRec
- 0.0937
Intolerance Scores
- loftool
- 0.439
- rvis_EVS
- -1.6
- rvis_percentile_EVS
- 3.02
Haploinsufficiency Scores
- pHI
- 0.531
- hipred
- Y
- hipred_score
- 0.701
- ghis
- 0.645
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.559
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Zfp638
- Phenotype
Gene ontology
- Biological process
- RNA splicing
- Cellular component
- nucleoplasm;cytoplasm;nuclear speck;intracellular membrane-bounded organelle
- Molecular function
- double-stranded DNA binding;RNA binding;zinc ion binding