HNRNPUL2-BSCL2

ncRNA

HNRNPUL2-BSCL2 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:13U:28B:22

Top phenotype

Charcot-Marie-Tooth disease type 2

Max pathogenic AF

—

Genomic locus

chr11:62,690,275-62,727,384

External References & Databases

Ensembl (ENSG00000234857)

NCBI Gene (100534595)

HGNC:49189

GenCC

ClinVar (HNRNPUL2-BSCL2)

Transcript & Mutation Effects

hg38 • Region Span ~37.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HNRNPUL2-BSCL2 variants in ClinVar

48 Conditions Cataloged

Charcot-Marie-Tooth disease type 2Total: 330

not providedTotal: 149

Inborn genetic diseasesTotal: 100

Congenital generalized lipodystrophy type 2Total: 75

not specifiedTotal: 39

Neuronopathy, distal hereditary motor, type 5ATotal: 38

Berardinelli-Seip congenital lipodystrophyTotal: 34

Hereditary spastic paraplegiaTotal: 24

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	4 clinvar	9 clinvar	28 clinvar	22 clinvar		63
Total	4	9	28	22	0	63

Highest pathogenic variant AF is 0.000269404

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000403734.2	Ensembl	ENSP00000456010.1	14	Standard

dbNSFP Gene Annotations

Source: dbNSFP