SNRNP35

small nuclear ribonucleoprotein U11/U12 subunit 35, the group of U11 small nuclear ribonucleoprotein|RNA binding motif containing|U11/U12 di-snRNP

Basic information

Region (hg38): 12:123458088-123473154

Links

ENSG00000184209 ∙ NCBI:11066 ∙ OMIM:619631 ∙ HGNC:30852 ∙ Uniprot:Q16560 ∙ 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 SNRNP35 gene.

• not_specified (38 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNRNP35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022717.4. 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				1		1
missense			37			37
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SNRNP35	protein_coding	protein_coding	ENST00000412157	2	15514

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.11e-9	0.147	125680	0	66	125746	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.798	136	165	0.825	0.0000108	1630
Missense in Polyphen		47	66.51	0.70666		582
Synonymous	1.31	50	63.2	0.791	0.00000400	500
Loss of Function	0.208	13	13.8	0.940	0.00000123	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000208	0.000207
Ashkenazi Jewish	0.00	0.00
East Asian	0.000822	0.000816
Finnish	0.00	0.00
European (Non-Finnish)	0.000256	0.000246
Middle Eastern	0.000822	0.000816
South Asian	0.000558	0.000555
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of RNA;mRNA Splicing - Minor Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Intolerance Scores

• loftool: 0.921
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.208
• ghis: 0.499

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.457

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Snrnp35

Gene ontology

• Biological process: mRNA splicing, via spliceosome;RNA splicing
• Cellular component: nucleus;nucleoplasm;U12-type spliceosomal complex;nucleolus
• Molecular function: mRNA binding