UTRN

utrophin, the group of Zinc fingers ZZ-type

Basic information

Region (hg38): 6:144285334-144853034

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.

• Inborn genetic diseases (154 variants)
• not provided (113 variants)
• not specified (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.

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				9	14	23
missense			149	12	9	170
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				4	3	7
non coding				2	61	63
Total	0	0	149	23	84

Variants in UTRN

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

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

Position	Type	Phenotype	Significance	ClinVar
6-144291533-T-G			Benign (Jun 19, 2021)
6-144291828-G-A			Benign (Jun 09, 2021)
6-144292201-C-T			Benign (Jun 19, 2021)
6-144403123-A-G		not specified	Uncertain significance (Oct 17, 2023)
6-144421902-A-G		not specified	Uncertain significance (May 27, 2022)
6-144421904-G-A		not specified	Uncertain significance (Sep 14, 2022)
6-144421909-C-T		not specified	Uncertain significance (Jul 13, 2021)
6-144423616-A-T		not specified	Uncertain significance (Jun 09, 2022)
6-144424014-A-G		not specified	Uncertain significance (Jul 09, 2021)
6-144424035-A-G		not specified	Uncertain significance (Jun 28, 2022)
6-144424081-G-A		not specified	Likely benign (Feb 16, 2017)
6-144426347-C-G		not specified	Uncertain significance (Aug 31, 2022)
6-144426372-C-G		not specified	Uncertain significance (Jun 24, 2022)
6-144426453-G-A		not specified	Uncertain significance (Jan 18, 2022)
6-144428784-T-A		not specified	Uncertain significance (Nov 21, 2022)
6-144428833-G-A		not specified	Uncertain significance (Mar 04, 2024)
6-144428886-T-C			Benign (Mar 01, 2018)
6-144429589-G-A		not specified	Uncertain significance (Jan 30, 2024)
6-144429676-C-T		not specified	Uncertain significance (May 27, 2022)
6-144429721-G-A		not specified	Uncertain significance (Mar 01, 2024)
6-144429737-T-C		not specified	Uncertain significance (Feb 06, 2024)
6-144429934-G-A			Benign (Nov 12, 2018)
6-144435730-A-C			Benign (Nov 12, 2018)
6-144436043-C-A		not specified	Uncertain significance (Apr 28, 2023)
6-144436043-C-T			Benign (Jun 04, 2018)

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