SNRNP27

small nuclear ribonucleoprotein U4/U6.U5 subunit 27, the group of tri-snRP complex

Basic information

Region (hg38): 2:69893956-69905575

Links

ENSG00000124380 ∙ NCBI:11017 ∙ OMIM:619629 ∙ HGNC:30240 ∙ Uniprot:Q8WVK2 ∙ 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 SNRNP27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNRNP27 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in SNRNP27

This is a list of pathogenic ClinVar variants found in the SNRNP27 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-69895097-G-A		not specified	Uncertain significance (Jul 31, 2024)
2-69896477-G-A		not specified	Uncertain significance (Oct 10, 2023)
2-69896487-A-T		not specified	Uncertain significance (May 15, 2024)
2-69896526-G-C		not specified	Uncertain significance (Oct 25, 2022)
2-69896536-C-T		not specified	Uncertain significance (Jul 09, 2021)
2-69896537-G-A		not specified	Uncertain significance (Dec 21, 2022)
2-69897443-T-C		not specified	Uncertain significance (Mar 30, 2024)
2-69903190-G-A		not specified	Uncertain significance (Jul 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SNRNP27	protein_coding	protein_coding	ENST00000244227	6	12016

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000198	0.911	125715	0	32	125747	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	54	105	0.516	0.00000709	994
Missense in Polyphen		9	18.148	0.49593		243
Synonymous	1.32	21	30.2	0.695	0.00000146	303
Loss of Function	1.54	8	14.3	0.561	0.00000118	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000262	0.000262
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.0000482	0.0000462
European (Non-Finnish)	0.000190	0.000185
Middle Eastern	0.0000548	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in mRNA splicing.
• Pathway: Spliceosome - Homo sapiens (human);Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.0558

Intolerance Scores

• loftool: 0.739
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.712
• ghis: 0.599

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.745

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Snrnp27
• Phenotype: pigmentation phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; digestive/alimentary phenotype

Gene ontology

• Biological process: mRNA splicing, via spliceosome;biological_process
• Cellular component: cellular_component;nucleoplasm
• Molecular function: nucleic acid binding;protein binding