PTGES3L-AARSD1

protein-coding

PTGES3L-AARSD1 readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:24B:1

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr17:42,950,526-42,980,528

External References & Databases

Ensembl (ENSG00000108825)

NCBI Gene (100885850)

ClinVar (PTGES3L-AARSD1)

Transcript & Mutation Effects

hg38 • Region Span ~30.0 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 PTGES3L-AARSD1 variants in ClinVar

3 Conditions Cataloged

Inborn genetic diseasesTotal: 26

not specifiedTotal: 1

not providedTotal: 1

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			24 clinvar	1 clinvar		25
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	1	0	25

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001136042.2	RefSeq	NP_001129514.2	17	Standard
NM_025267.4	RefSeq	NP_079543.1	16	Standard
ENST00000360221.8	Ensembl	ENSP00000353355.4	16	Standard
ENST00000409103.5	Ensembl	ENSP00000386254.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in epithelium - TarBase
miR-targeted genes in lymphocytes - TarBase
miR-targeted genes in muscle cell - TarBase

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000421990
Coding exons: 17
Length: 30003
Individuals with no LoFs: 125458
Homozygous LoFs: 0
Heterozygous LoFs: 290
Defined: 125748
p: 0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.222	331	343	0.966	0.0000193	3866
Missense (PolyPhen)		99	120.12	0.82419		1332
Synonymous	0.127	126	128	0.986	0.00000700	1124
Loss of Function	2.10	19	31.8	0.598	0.00000144	379

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0069	0.0069	notable
Latino/Admixed American	0.00090	0.00090	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00038	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00045	0.00045	rare
South Asian	0.0027	0.0027	notable
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala). {ECO:0000250}.;

Essentials

Essential (CRISPR): N

Gene Damage Prediction

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