DIS3L

DIS3 like exosome 3'-5' exoribonuclease, the group of Exosome complex

Basic information

Region (hg38): 15:66293216-66333898

Links

ENSG00000166938 ∙ NCBI:115752 ∙ OMIM:614183 ∙ HGNC:28698 ∙ Uniprot:Q8TF46 ∙ 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 DIS3L gene.

• Inborn genetic diseases (57 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIS3L 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			57			57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	0	0

Variants in DIS3L

This is a list of pathogenic ClinVar variants found in the DIS3L region.

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

Position	Type	Phenotype	Significance	ClinVar
15-66293601-T-G		not specified	Uncertain significance (Jul 19, 2023)
15-66293604-A-C		not specified	Uncertain significance (Dec 08, 2021)
15-66293612-G-C		not specified	Uncertain significance (Feb 27, 2023)
15-66293663-C-T		not specified	Uncertain significance (Dec 19, 2022)
15-66293670-A-G		not specified	Uncertain significance (Aug 02, 2023)
15-66294994-A-G		not specified	Uncertain significance (Jul 19, 2023)
15-66294996-C-G		not specified	Uncertain significance (Aug 08, 2023)
15-66295114-A-G		not specified	Uncertain significance (Jan 09, 2024)
15-66306841-G-A		not specified	Uncertain significance (Sep 17, 2021)
15-66306946-A-C		not specified	Uncertain significance (Mar 06, 2023)
15-66308714-T-G		not specified	Uncertain significance (Dec 19, 2022)
15-66308819-A-G		not specified	Uncertain significance (Jul 06, 2021)
15-66311764-A-T		not specified	Uncertain significance (Mar 16, 2022)
15-66311850-C-G		not specified	Uncertain significance (Jul 06, 2021)
15-66311890-G-T		not specified	Uncertain significance (Jul 12, 2022)
15-66314052-T-A		not specified	Uncertain significance (Mar 21, 2023)
15-66315061-C-A		not specified	Uncertain significance (Nov 20, 2023)
15-66315173-G-A		not specified	Uncertain significance (May 31, 2023)
15-66318451-C-G		not specified	Uncertain significance (Dec 28, 2023)
15-66318454-G-T		not specified	Uncertain significance (Jun 02, 2023)
15-66318516-G-C		not specified	Uncertain significance (Dec 06, 2021)
15-66318553-G-A		not specified	Uncertain significance (Dec 16, 2022)
15-66318569-A-G		not specified	Uncertain significance (Feb 15, 2023)
15-66318587-G-A		not specified	Uncertain significance (May 26, 2022)
15-66320571-G-A		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIS3L	protein_coding	protein_coding	ENST00000319212	17	40682

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.42e-18	0.675	125526	0	222	125748	0.000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.934	510	573	0.890	0.0000317	6924
Missense in Polyphen		116	147.52	0.78632		1632
Synonymous	1.78	174	207	0.843	0.0000117	1988
Loss of Function	2.00	36	51.5	0.700	0.00000289	604

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00125	0.00125
Ashkenazi Jewish	0.00448	0.00447
East Asian	0.000707	0.000707
Finnish	0.000508	0.000508
European (Non-Finnish)	0.000654	0.000642
Middle Eastern	0.000707	0.000707
South Asian	0.00115	0.00114
Other	0.00147	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. {ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389}.
• Pathway: RNA degradation - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.991
• rvis_EVS: -0.26
• rvis_percentile_EVS: 34.97

Haploinsufficiency Scores

• pHI: 0.0626
• hipred: Y
• hipred_score: 0.694
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.908

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dis3l

Gene ontology

• Biological process: rRNA processing;RNA catabolic process;rRNA catabolic process;RNA phosphodiester bond hydrolysis, exonucleolytic
• Cellular component: nuclear exosome (RNase complex);cytoplasmic exosome (RNase complex);exosome (RNase complex);centrosome;cytosol;plasma membrane
• Molecular function: 3'-5'-exoribonuclease activity;RNA binding;endonuclease activity;protein binding;enzyme binding