DUX4L9

double homeobox 4 like 9 (pseudogene), the group of PRD class homeoboxes and pseudogenes

Basic information

Region (hg38): 4:190021407-190022665

Links

∙ NCBI:100288711 ∙ OMIM:615581 ∙ HGNC:33855 ∙ Uniprot:Q6RFH8 ∙ 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 DUX4L9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUX4L9 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						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation (By similarity). Down-regulates MYOD1 expression and may up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may be involved in muscle regeneration. {ECO:0000250, ECO:0000269|PubMed:18723017, ECO:0000269|PubMed:19829708, ECO:0000269|PubMed:24145033}.;
Disease: DISEASE: Note=Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein level). {ECO:0000269|PubMed:19829708}.;

Gene ontology

Biological process: cell population proliferation;regulation of gene expression;positive regulation of transcription by RNA polymerase II
Cellular component: nucleus
Molecular function: transcription regulatory region sequence-specific DNA binding;protein binding