DLEU2

deleted in lymphocytic leukemia 2, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 13:49956669-50126118

Previous symbols: [ "DLB2", "BCMSUN", "RFP2OS" ]

Links

ENSG00000231607 ∙ NCBI:8847 ∙ OMIM:605766 ∙ HGNC:13748 ∙ ∙ ∙ 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 DLEU2 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DLEU2 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			17	2		19
Total	0	0	17	2	0

Variants in DLEU2

This is a list of pathogenic ClinVar variants found in the DLEU2 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-50012085-C-G		not specified	Uncertain significance (Jan 29, 2024)
13-50012194-T-C		not specified	Uncertain significance (Jan 23, 2023)
13-50012244-C-T		not specified	Uncertain significance (Mar 02, 2023)
13-50012269-T-C		not specified	Uncertain significance (Jun 09, 2022)
13-50012273-G-T		not specified	Uncertain significance (Jun 17, 2024)
13-50012289-T-G		not specified	Uncertain significance (Dec 21, 2023)
13-50012419-G-A		not specified	Uncertain significance (Dec 22, 2023)
13-50012478-G-C		not specified	Uncertain significance (Aug 08, 2023)
13-50012501-G-T		not specified	Uncertain significance (May 04, 2023)
13-50012581-C-T		not specified	Uncertain significance (May 18, 2022)
13-50012760-G-A		not specified	Likely benign (Nov 21, 2022)
13-50012824-A-G		not specified	Uncertain significance (Jan 08, 2024)
13-50012858-C-G		not specified	Uncertain significance (Mar 25, 2024)
13-50012950-A-G		not specified	Uncertain significance (Jun 07, 2024)
13-50013004-G-C		not specified	Likely benign (Dec 21, 2022)
13-50015518-T-G		not specified	Uncertain significance (Jan 03, 2024)
13-50015537-T-C		not specified	Uncertain significance (Aug 17, 2022)
13-50015581-C-T		not specified	Uncertain significance (Feb 27, 2024)
13-50015606-G-A		not specified	Uncertain significance (Nov 02, 2021)
13-50015624-T-C		not specified	Uncertain significance (Sep 28, 2022)
13-50015701-C-G		not specified	Uncertain significance (Jul 14, 2022)
13-50015726-A-G		not specified	Uncertain significance (Jun 29, 2022)
13-50015767-C-T		not specified	Uncertain significance (Nov 02, 2023)
13-50015822-T-G		not specified	Uncertain significance (Mar 18, 2024)
13-50015843-G-A		not specified	Uncertain significance (May 26, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Validated targets of C-MYC transcriptional repression (Consensus)

Recessive Scores

• pRec: 0.0819

Haploinsufficiency Scores

• pHI: 0.0399

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.231