TMPO

thymopoietin, the group of LEM domain containing

Basic information

Region (hg38): 12:98515561-98550351

Links

ENSG00000120802

∙ NCBI:7112 ∙ OMIM:188380 ∙ HGNC:11875 ∙ Uniprot:P42166, P42167 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

familial isolated dilated cardiomyopathy (Supportive), mode of inheritance: AD
dilated cardiomyopathy (Refuted Evidence), mode of inheritance: AD
familial isolated dilated cardiomyopathy (Refuted Evidence), mode of inheritance: AD
hypertrophic cardiomyopathy (No Known Disease Relationship), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, dilated, 1T	AD	Cardiovascular	Preventive measures, surveillance (eg, including echocardiography/electrocardiography), and medical management may be helpful to help decrease morbidity	Cardiovascular	16247757
The onset of symptoms has been described in adults, but surveillance and medical management may be beneficial prior to adulthood

ClinVar

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

not_specified (474 variants)
Loeys-Dietz_syndrome_2 (468 variants)
not_provided (173 variants)
TMPO-related_disorder (20 variants)
Primary_dilated_cardiomyopathy (6 variants)
Dilated_cardiomyopathy_1T (6 variants)
Cardiomyopathy (4 variants)
Long_QT_syndrome (3 variants)
Cardiovascular_phenotype (3 variants)
Primary_familial_hypertrophic_cardiomyopathy (3 variants)
Hypertrophic_cardiomyopathy (2 variants)
Inborn_genetic_diseases (2 variants)
Arrhythmogenic_right_ventricular_cardiomyopathy (2 variants)
High_myopia (1 variants)
Dilated_Cardiomyopathy,_Dominant (1 variants)
Fetal_akinesia_deformation_sequence_1 (1 variants)
Hypertrophic_cardiomyopathy_25 (1 variants)
Amyloidosis (1 variants)
Arthrogryposis_multiplex_congenita (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPO gene is commonly pathogenic or not. These statistics are base on transcript: NM_001032283.3. 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			4 clinvar	83 clinvar	1 clinvar	88
missense			143 clinvar	9 clinvar	2 clinvar	154
nonsense			1 clinvar			1
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)						0
Total	0	0	151	92	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPO	protein_coding	protein_coding	ENST00000266732	4	34868

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.55e-7	0.851	125668	1	79	125748	0.000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.608	383	351	1.09	0.0000166	4463
Missense in Polyphen		118	126.14	0.9355		1605
Synonymous	-3.17	189	141	1.34	0.00000699	1444
Loss of Function	1.54	14	21.8	0.643	9.98e-7	302

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00106
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000381	0.000381
Finnish	0.000466	0.000462
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000381	0.000381
South Asian	0.000294	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1.;
Pathway: Clearance of Nuclear Envelope Membranes from Chromatin;Nuclear Envelope Breakdown;Mitotic Prophase;Initiation of Nuclear Envelope Reformation;Nuclear Envelope Reassembly;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

pRec: 0.427

Intolerance Scores

loftool: 0.760
rvis_EVS: 1.52
rvis_percentile_EVS: 95.48

Haploinsufficiency Scores

pHI: 0.672
hipred: N
hipred_score: 0.396
ghis: 0.638

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.881

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Tmpo
Phenotype: digestive/alimentary phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; cellular phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Gene ontology

Biological process: regulation of transcription, DNA-templated
Cellular component: chromatin;nucleus;nuclear envelope
Molecular function: DNA binding;protein binding;lamin binding;cadherin binding