PRR27

protein-coding

proline rich 27

Gene summary

Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C4orf40

MANE transcript

NM_214711.4

Inheritance

—

ClinVar variants

U:39B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr4:70,133,616-70,176,799

External References & Databases

Ensembl (ENSG00000187533)

Transcript & Mutation Effects

hg38 • Region Span ~43.2 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 PRR27 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 42

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_214711.4. 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				5 clinvar		5
missense			39 clinvar	3 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	8	0	47

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_214711.4	RefSeq	NP_999876.2	4	MANE Select
ENST00000344526.10	Ensembl	ENSP00000343172.5	4	MANE Select
ENST00000502294.5	Ensembl	ENSP00000426249.1	4	Standard
ENST00000502294.6	Ensembl	ENSP00000426249.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000344526
Coding exons: 4
Length: 43184
Individuals with no LoFs: 125490
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125493
p: 0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.399	132	120	1.10	0.00000601	1369
Missense (PolyPhen)		18	13.556	1.3278		139
Synonymous	0.134	42	43.1	0.974	0.00000225	512
Loss of Function	0.338	6	6.96	0.862	2.96e-7	97

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0394

Intolerance Scores

RVIS EVS: 0.79
RVIS percentile EVS: 87.4

Essentials

Essential (gene trap): N