MAPRE2
Basic information
Region (hg38): 18:34976928-35143470
Links
Phenotypes
GenCC
Source:
- skin creases, congenital symmetric circumferential, 2 (Moderate), mode of inheritance: AD
- multiple benign circumferential skin creases on limbs (Supportive), mode of inheritance: AD
- skin creases, congenital symmetric circumferential, 2 (Limited), mode of inheritance: Unknown
- skin creases, congenital symmetric circumferential, 2 (Moderate), mode of inheritance: AD
- skin creases, congenital symmetric circumferential, 2 (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Congenital symmetric circumferential skin creases 2 | 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 | Craniofacial; Dermatologic; Neurologic | 19182162; 21262397; 26637975 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn_genetic_diseases (18 variants)
- not_provided (15 variants)
- Skin_creases,_congenital_symmetric_circumferential,_2 (11 variants)
- not_specified (4 variants)
- MAPRE2-related_disorder (3 variants)
- Developmental_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPRE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014268.4. 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 | 13 | 16 | ||||
missense | 17 | 25 | ||||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 3 | 5 | 17 | 16 | 3 |
Highest pathogenic variant AF is 0.0000013691428
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MAPRE2 | protein_coding | protein_coding | ENST00000300249 | 7 | 166543 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.834 | 0.166 | 125743 | 0 | 3 | 125746 | 0.0000119 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.19 | 59 | 179 | 0.330 | 0.00000907 | 2160 |
Missense in Polyphen | 11 | 59.802 | 0.18394 | 836 | ||
Synonymous | 0.408 | 67 | 71.4 | 0.939 | 0.00000418 | 592 |
Loss of Function | 3.41 | 3 | 19.1 | 0.157 | 0.00000115 | 202 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000123 | 0.000123 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000964 | 0.00000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity). {ECO:0000250}.;
- Disease
- DISEASE: Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734]: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269|PubMed:26637975}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.125
Intolerance Scores
- loftool
- 0.0882
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.809
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.625
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.939
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapre2
- Phenotype
Zebrafish Information Network
- Gene name
- mapre2
- Affected structure
- ceratobranchial cartilage
- Phenotype tag
- abnormal
- Phenotype quality
- immature
Gene ontology
- Biological process
- signal transduction;cell population proliferation;regulation of microtubule polymerization or depolymerization;positive regulation of ARF protein signal transduction;protein localization to microtubule;positive regulation of GTPase activity;spindle assembly;cell division;positive regulation of keratinocyte migration;positive regulation of adherens junction organization;protein localization to microtubule plus-end
- Cellular component
- cytoplasm;microtubule organizing center;microtubule;cytoplasmic microtubule;focal adhesion;microtubule cytoskeleton;microtubule plus-end;spindle midzone
- Molecular function
- protein binding;microtubule binding;protein kinase binding;identical protein binding;microtubule plus-end binding