PRR35

Gene

proline rich 35

Gene summary

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

Previous symbols:

C16orf11

MANE transcript

NM_145270.3

Inheritance

—

ClinVar variants

U:104B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.44

Max pathogenic AF

—

Genomic locus

chr16:560,394-565,529

External References & Databases

Ensembl (ENSG00000161992)

Transcript & Mutation Effects

hg38 • Region Span ~5.1 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 PRR35 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 116

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145270.3. 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			103 clinvar	14 clinvar		117
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	14	0	118

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145270.3	RefSeq	NP_660313.1	2	MANE Select
ENST00000409413.4	Ensembl	ENSP00000386499.3	2	MANE Select
ENST00000870054.1	Ensembl	ENSP00000540113.1	2	Standard
ENST00000870055.1	Ensembl	ENSP00000540114.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000409413
Coding exons: 2
Length: 5107
Individuals with no LoFs: 124104
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 124118
p: 0.0000564

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.719	293	330	0.889	0.0000212	3470
Missense (PolyPhen)		65	98.229	0.66172		1151
Synonymous	-0.104	163	161	1.01	0.0000114	1332
Loss of Function	1.57	4	9.12	0.439	4.54e-7	116

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000091	0.000087	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000062	0.000053	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N