GPR75-ASB3

GPR75-ASB3 readthrough, the group of MicroRNA protein coding host genes

Basic information

Links

ENSG00000270898 ∙ NCBI:100302652 ∙ ∙ HGNC:40043 ∙ ∙ ∙ 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 GPR75-ASB3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR75-ASB3 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR75-ASB3	protein_coding	protein_coding	ENST00000406625	10	189868

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.44e-7	0.956	124480	0	49	124529	0.000197

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.266	311	298	1.04	0.0000157	3592
Missense in Polyphen		90	104.26	0.86322		1317
Synonymous	-1.56	133	112	1.19	0.00000618	1074
Loss of Function	1.95	15	25.7	0.584	0.00000120	326

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000480	0.000477
Ashkenazi Jewish	0.00	0.00
East Asian	0.000436	0.000435
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000172	0.000171
Middle Eastern	0.000436	0.000435
South Asian	0.0000980	0.0000980
Other	0.000655	0.000653

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B. {ECO:0000269|PubMed:15899873}.

Intolerance Scores

• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.49

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.594

Essentials

• essential_gene_CRISPR: N

Gene ontology

• Biological process: protein ubiquitination;intracellular signal transduction