ARPIN
Basic information
Region (hg38): 15:89895005-89912952
Previous symbols: [ "C15orf38" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARPIN gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 22 | 22 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 22 | 0 | 0 |
Variants in ARPIN
This is a list of pathogenic ClinVar variants found in the ARPIN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ARPIN | protein_coding | protein_coding | ENST00000357484 | 6 | 13030 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000154 | 0.433 | 124777 | 0 | 32 | 124809 | 0.000128 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0404 | 141 | 142 | 0.990 | 0.00000914 | 1460 |
| Missense in Polyphen | 44 | 56.158 | 0.78351 | 571 | ||
| Synonymous | 0.184 | 62 | 63.9 | 0.971 | 0.00000455 | 452 |
| Loss of Function | 0.433 | 8 | 9.44 | 0.848 | 3.97e-7 | 123 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000116 | 0.000116 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000111 | 0.000111 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000177 | 0.000177 |
| Middle Eastern | 0.000111 | 0.000111 |
| South Asian | 0.000131 | 0.000131 |
| Other | 0.000330 | 0.000330 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates actin polymerization by inhibiting the actin- nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors. Participates in an incoherent feedforward loop at the lamellipodium tip where it inhibits the ARP2/2 complex in response to Rac signaling and where Rac also stimulates actin polymerization through the WAVE complex. Involved in steering cell migration by controlling its directional persistence. {ECO:0000269|PubMed:24132237}.;
Recessive Scores
- pRec
- 0.0927
Intolerance Scores
- loftool
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.0690
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.439
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Arpin
- Phenotype
Gene ontology
- Biological process
- negative regulation of cell migration;directional locomotion;negative regulation of actin nucleation;negative regulation of lamellipodium morphogenesis
- Cellular component
- lamellipodium
- Molecular function
- protein binding