PIMREG

PICALM interacting mitotic regulator

Basic information

Region (hg38): 17:6444441-6451469

Previous symbols: [ "FAM64A" ]

Links

ENSG00000129195 ∙ NCBI:54478 ∙ OMIM:617611 ∙ HGNC:25483 ∙ Uniprot:Q9BSJ6 ∙ 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 PIMREG gene.

• not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIMREG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019013.3. 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			35	7		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PIMREG	protein_coding	protein_coding	ENST00000250056	4	7055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00117	0.854	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.156	157	152	1.04	0.00000961	1564
Missense in Polyphen		40	48.089	0.83179		564
Synonymous	-0.177	61	59.3	1.03	0.00000311	525
Loss of Function	1.26	6	10.4	0.579	5.25e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.000598	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.000598	0.000598
South Asian	0.000562	0.000523
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: During mitosis, may play a role in the control of metaphase-to-anaphase transition. {ECO:0000269|PubMed:18757745}.

Recessive Scores

• pRec: 0.0645

Intolerance Scores

• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.145
• ghis: 0.586

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Pimreg

Gene ontology

• Biological process: cell cycle;cell division
• Cellular component: nucleus;nucleolus
• Molecular function: protein binding