PRR7

proline rich 7, synaptic

Basic information

Region (hg38): 5:177446445-177456286

Links

ENSG00000131188 ∙ NCBI:80758 ∙ OMIM:618306 ∙ HGNC:28130 ∙ Uniprot:Q8TB68 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRR7 gene.

• not_specified (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030567.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			34			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR7	protein_coding	protein_coding	ENST00000323249	2	9838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.869	0.129	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.29	93	135	0.687	0.00000630	1711
Missense in Polyphen		12	25.287	0.47455		287
Synonymous	-1.53	78	62.6	1.25	0.00000298	592
Loss of Function	2.39	0	6.64	0.00	2.84e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN (PubMed:27458189). Might play a redundant role in the regulation of T cell receptor signaling (PubMed:21460222). Might promote apoptosis in T cells (PubMed:21460222). {ECO:0000250|UniProtKB:P0C6T3, ECO:0000250|UniProtKB:Q3V0I2, ECO:0000269|PubMed:21460222, ECO:0000269|PubMed:27458189}.

Recessive Scores

• pRec: 0.115

Haploinsufficiency Scores

• pHI: 0.627
• hipred: Y
• hipred_score: 0.531
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.725

Mouse Genome Informatics

• Gene name: Prr7
• Phenotype: immune system phenotype; hematopoietic system phenotype

Zebrafish Information Network

• Gene name: prr7
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: adaptive immune response;T cell differentiation;postsynapse to nucleus signaling pathway
• Cellular component: nucleus;integral component of membrane;cell junction;dendrite;postsynaptic membrane;perinuclear region of cytoplasm;glutamatergic synapse;postsynaptic density, intracellular component