PACRGL

Gene

parkin coregulated like, the group of Armadillo like helical domain containing

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C4orf28

MANE transcript

NM_001258345.3

Inheritance

—

ClinVar variants

U:30B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.15

Max pathogenic AF

—

Genomic locus

chr4:20,696,282-20,752,907

External References & Databases

Ensembl (ENSG00000163138)

Transcript & Mutation Effects

hg38 • Region Span ~56.6 kb

Loading mutation effect viewer...

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 PACRGL variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 26

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001258345.3. 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				1 clinvar		1
missense			26 clinvar	1 clinvar		27
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	30	2	0	32

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 178 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001258345.3	RefSeq	NP_001245274.1	8	MANE Select
ENST00000503585.6	Ensembl	ENSP00000423881.1	8	MANE Select
NM_001130727.3	RefSeq	NP_001124199.1	4	Standard
NM_001258346.3	RefSeq	NP_001245275.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000503585
Coding exons: 8
Length: 56626
Individuals with no LoFs: 125540
Homozygous LoFs: 0
Heterozygous LoFs: 202
Defined: 125742
p: 0.000804

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.229	112	119	0.941	0.00000549	1581
Missense (PolyPhen)		31	30.227	1.0256		426
Synonymous	-0.953	51	43.0	1.18	0.00000209	481
Loss of Function	-0.526	17	14.8	1.15	8.21e-7	190

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0074	0.0074	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00042	0.00041	rare
South Asian	0.00029	0.00029	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.391
RVIS EVS: 0.37
RVIS percentile EVS: 75.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

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