DIS3L2
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DIS3L2 (HGNC:28648) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DIS3 like 3'-5' exoribonuclease 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FAM6A
Alias symbols
FLJ36974, MGC42174
%HI
37.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.47(Read more about gnomAD LOEUF score)
Cytoband
2q37.1
Genomic Coordinates
GRCh37/hg19: chr2:232826423-233209060 NCBI Ensembl UCSC
GRCh38/hg38: chr2:231961713-232344350 NCBI Ensembl UCSC
MANE Select Transcript
NM_152383.5 ENST00000325385.12 (Read more about MANE Select)
Function
3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27597
ClinGen Curation ID:
CCID:006991
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/14/2020

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • autosomal recessive Perlman syndrome Monarch
HI Evidence:
  • PUBMED: 25670083
    Wegert et al. (2015) analyzed 58 blastemal type Wilms tumors by exome and transcriptome sequencing. Possible germline variants were also checked wherever DNA from blood leukocytes or adjacent normal kidney was available. There were 8 cases with germline variants in genes including DIS3L2 (Y137C, P514X, and Q827X), and some are predicted to be deleterious (Table S4). Only the DIS3L2 P514X mutation became homozygous in the tumor, supportive of functional importance. These constitutional heterozygous mutations appear compatible with normal development, but may still pose an increased tumor risk.
  • PUBMED: 31350202
    Ow et al. (2019) utilized next generation sequencing (NGS) to characterize the mutation profile of 174 Asian patients with cancer. 1 patient that meet the Bethesda criteria of Lynch syndrome had a nonsense variant in DIS3L2 gene (p.R724X), which is not in the control database such as ExAC or 1000 Genomes. No further detail provided.
  • PUBMED: 26822237
    Parson et al (2016) performed combined tumor and germline WES for 121 children with wide variety of solid tumors. One patient with Wilms tumor had a frame shift variant in DIS3L2 gene (c.2381delG, p.R794fs) and LOH detected in the tumor. However, this variant was inherited from a parent of unknown phenotype (eTable 10).
HI Evidence Comments:
Exon 9 (of 21) and 3’ (e15-21) of the gene is highly polymorphic for del CNVs. 3’ of the gene also overlaps with SD cluster. Although there are emerging evidence of predicted LOF variants reported as mentioned above, no functional study was performed so far.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)