LY6G6F-LY6G6D

protein-coding

LY6G6F-LY6G6D readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring LY6G6F (lymphocyte antigen 6 family member G6F) and LY6G6D (lymphocyte antigen 6 family member G6D) genes on chromosome 6. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:25B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr6:31,706,904-31,717,918

External References & Databases

Ensembl (ENSG00000250641)

NCBI Gene (110599563)

HGNC:38821

GenCC

ClinVar (LY6G6F-LY6G6D)

Transcript & Mutation Effects

hg38 • Region Span ~11.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LY6G6F-LY6G6D variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			25 clinvar	2 clinvar	1 clinvar	28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	2	1	28

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001353334.2	RefSeq	NP_001340263.1	6	Standard
ENST00000503322.1	Ensembl	ENSP00000421232.1	6	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000503322
Coding exons: 6
Length: 11015
Individuals with no LoFs: 125633
Homozygous LoFs: 0
Heterozygous LoFs: 114
Defined: 125747
p: 0.000453

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.651	197	224	0.878	0.0000123	2437
Missense (PolyPhen)		44	55.984	0.78594		680
Synonymous	1.32	77	93.2	0.826	0.00000543	821
Loss of Function	1.05	13	17.8	0.732	0.00000103	172

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00067	0.00067	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00052	0.00052	rare
South Asian	0.00062	0.00062	rare
Other	0.00082	0.00081	rare