LY6G6E

lymphocyte antigen 6 family member G6E (pseudogene), the group of LY6/PLAUR domain containing

Basic information

Region (hg38): 6:31712341-31713812

Previous symbols: [ "C6orf22" ]

Links

ENSG00000255552 ∙ NCBI:79136 ∙ OMIM:610437 ∙ HGNC:13934 ∙ ∙ ∙ 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 LY6G6E gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LY6G6E 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
LY6G6E	protein_coding	protein_coding	ENST00000383418	3	2295

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00439	0.449	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.742	53	70.5	0.751	0.00000398	789
Missense in Polyphen		18	18.32	0.98255		201
Synonymous	1.31	21	30.1	0.697	0.00000178	258
Loss of Function	-0.357	3	2.40	1.25	1.02e-7	31

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0900
• ghis: 0.399

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.0125

Mouse Genome Informatics

• Gene name: Ly6g6e

Gene ontology

• Biological process: desensitization of G protein-coupled receptor signaling pathway;acetylcholine receptor signaling pathway;positive regulation of signaling receptor activity
• Cellular component: plasma membrane
• Molecular function: acetylcholine receptor activator activity;acetylcholine receptor binding