ARPIN

actin related protein 2/3 complex inhibitor

Basic information

Region (hg38): 15:89895006-89912952

Previous symbols: [ "C15orf38" ]

Links

ENSG00000242498 ∙ NCBI:348110 ∙ OMIM:615543 ∙ HGNC:28782 ∙ Uniprot:Q7Z6K5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARPIN gene.

• not_specified (47 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000182616.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			47			47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	48	0	0

GnomAD

Source: gnomAD

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: dbNSFP

• 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

• 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_gene_trap: N

Mouse Genome Informatics

• Gene name: Arpin

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