UTRN

utrophin, the group of Zinc fingers ZZ-type

Basic information

Region (hg38): 6:144285335-144853034

Previous symbols: [ "DMDL" ]

Links

ENSG00000152818 ∙ NCBI:7402 ∙ OMIM:128240 ∙ HGNC:12635 ∙ Uniprot:P46939 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UTRN gene.

• not_specified (511 variants)
• not_provided (56 variants)
• Duchenne_muscular_dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTRN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007124.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			6	13	12	31
missense			496	32	7	535
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1	18			19
Total	0	1	521	45	19

Highest pathogenic variant AF is 0.000001260554

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UTRN	protein_coding	protein_coding	ENST00000367545	74	567334

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125471	2	275	125748	0.00110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.371	1723	1.77e+3	0.975	0.0000951	22728
Missense in Polyphen		609	736.16	0.82726		9512
Synonymous	0.105	642	645	0.995	0.0000356	6203
Loss of Function	8.61	73	206	0.354	0.0000113	2381

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00217	0.00215
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.00104	0.00103
Finnish	0.000881	0.000878
European (Non-Finnish)	0.00137	0.00133
Middle Eastern	0.00104	0.00103
South Asian	0.000402	0.000392
Other	0.00180	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in anchoring the cytoskeleton to the plasma membrane. {ECO:0000250}.
• Pathway: Primary Focal Segmental Glomerulosclerosis FSGS;agrin in postsynaptic differentiation (Consensus)

Recessive Scores

• pRec: 0.561

Intolerance Scores

• loftool: 0.595
• rvis_EVS: -1.55
• rvis_percentile_EVS: 3.26

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.871

Gene Damage Prediction

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

Gene ontology

• Biological process: positive regulation of cell-matrix adhesion;muscle contraction;muscle organ development;neuromuscular junction development;response to denervation involved in regulation of muscle adaptation;regulation of sodium ion transmembrane transporter activity
• Cellular component: nucleoplasm;cytoplasm;cytoskeleton;plasma membrane;dystrophin-associated glycoprotein complex;membrane;cell junction;filopodium;growth cone;cortical actin cytoskeleton;filopodium membrane;neuromuscular junction;protein-containing complex;sarcolemma;postsynaptic membrane;extracellular exosome;contractile ring
• Molecular function: actin binding;integrin binding;protein binding;zinc ion binding;vinculin binding;protein kinase binding;actin filament binding