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 (457 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	13 clinvar	12 clinvar	26
missense			428 clinvar	31 clinvar	7 clinvar	466
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	0	1	429	44	19

Highest pathogenic variant AF is 0.00000126055

Loading clinvar variants...

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
1.00e-19	1.00	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

Haploinsufficiency Scores

pHI: 0.179
hipred: Y
hipred_score: 0.637
ghis: 0.564

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

Mouse Genome Informatics

Gene name: Utrn
Phenotype: growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; immune system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype;

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