PDLIM7
Basic information
Region (hg38): 5:177483394-177497606
Links
Phenotypes
GenCC
Source:
- mitral valve prolapse (Limited), mode of inheritance: AD
- atypical Rett syndrome (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (63 variants)
- not_provided (6 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDLIM7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005451.5. 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 | 7 | |||||
| missense | 60 | 61 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 3 | 5 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PDLIM7 | protein_coding | protein_coding | ENST00000355841 | 12 | 14213 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.708 | 0.292 | 125712 | 0 | 15 | 125727 | 0.0000597 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.731 | 247 | 282 | 0.877 | 0.0000187 | 2947 |
| Missense in Polyphen | 96 | 124.17 | 0.77313 | 1254 | ||
| Synonymous | -1.26 | 134 | 117 | 1.15 | 0.00000844 | 887 |
| Loss of Function | 3.50 | 4 | 21.6 | 0.186 | 0.00000101 | 260 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000125 | 0.000125 |
| Ashkenazi Jewish | 0.000102 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000925 | 0.0000924 |
| European (Non-Finnish) | 0.0000461 | 0.0000440 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000216 | 0.0000980 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity). {ECO:0000250, ECO:0000269|PubMed:11874232, ECO:0000269|PubMed:7929196}.;
- Pathway
- miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;EBV LMP1 signaling;Developmental Biology;Signaling events regulated by Ret tyrosine kinase;RET signaling;Axon guidance
(Consensus)
Recessive Scores
- pRec
- 0.130
Intolerance Scores
- loftool
- 0.152
- rvis_EVS
- -0.66
- rvis_percentile_EVS
- 16.02
Haploinsufficiency Scores
- pHI
- 0.105
- hipred
- Y
- hipred_score
- 0.775
- ghis
- 0.592
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.917
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pdlim7
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype; respiratory system phenotype; immune system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Zebrafish Information Network
- Gene name
- pdlim7
- Affected structure
- atrioventricular valve
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic
Gene ontology
- Biological process
- ossification;receptor-mediated endocytosis;axon guidance;actin cytoskeleton organization;positive regulation of osteoblast differentiation
- Cellular component
- stress fiber;ruffle;nucleus;cytosol;cell-cell adherens junction;focal adhesion;actin cytoskeleton
- Molecular function
- protein binding;metal ion binding