GPRASP3

G protein-coupled receptor associated sorting protein family member 3, the group of Armadillo repeat containing

Basic information

Region (hg38): X:102720688-102753540

Previous symbols: [ "BHLHB9" ]

Links

ENSG00000198908 ∙ NCBI:80823 ∙ OMIM:300921 ∙ HGNC:29353 ∙ Uniprot:Q6PI77 ∙ 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 GPRASP3 gene.

• not_specified (46 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPRASP3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001142524.2. 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				3	1	4
missense			41	5	2	48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	8	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPRASP3	protein_coding	protein_coding	ENST00000372735	1	32853

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0203	0.911	125712	1	7	125720	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.474	180	199	0.905	0.0000138	3616
Missense in Polyphen		42	55.817	0.75246		1174
Synonymous	1.97	48	68.7	0.698	0.00000477	1071
Loss of Function	1.55	4	9.01	0.444	5.66e-7	205

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000114	0.000114
Ashkenazi Jewish	0.000273	0.000199
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000247	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000235	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the control of cellular aging and survival.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.250
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.0940
• hipred: N
• hipred_score: 0.158
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.829

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bhlhb9

Gene ontology

• Biological process: learning or memory;negative regulation of neuron apoptotic process;positive regulation of neurogenesis;positive regulation of synapse assembly;positive regulation of dendritic spine morphogenesis
• Cellular component: nucleoplasm;cytosol;extracellular exosome
• Molecular function: protein homodimerization activity