TAGLN

transgelin

Basic information

Region (hg38): 11:117199369-117207464

Links

ENSG00000149591 ∙ NCBI:6876 ∙ OMIM:600818 ∙ HGNC:11553 ∙ Uniprot:Q01995 ∙ 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 TAGLN gene.

• Inborn genetic diseases (15 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAGLN 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					1	1
missense			10		2	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			5	1	1	7
Total	0	0	15	1	4

Variants in TAGLN

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

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

Position	Type	Phenotype	Significance	ClinVar
11-117203083-G-A		not specified	Uncertain significance (Mar 02, 2023)
11-117203191-G-A		not specified	Uncertain significance (Aug 08, 2023)
11-117203334-T-C		not specified	Uncertain significance (Mar 24, 2023)
11-117203355-G-C			Benign (Dec 11, 2017)
11-117203369-G-T		not specified	Uncertain significance (Jan 04, 2024)
11-117203385-G-C		not specified	Uncertain significance (Dec 15, 2022)
11-117203404-A-G		not specified	Uncertain significance (Aug 17, 2021)
11-117203410-C-T		not specified	Uncertain significance (May 18, 2022)
11-117203847-G-T		not specified	Uncertain significance (Apr 27, 2023)
11-117203848-A-T		not specified	Uncertain significance (Dec 03, 2021)
11-117203888-T-C			Benign (Jun 27, 2018)
11-117204287-G-T		not specified	Uncertain significance (Feb 08, 2023)
11-117204292-G-A		not specified	Uncertain significance (Jul 28, 2021)
11-117204298-A-G			Benign (Jul 15, 2018)
11-117204303-G-C		not specified	Uncertain significance (Nov 15, 2021)
11-117204316-C-A		not specified	Uncertain significance (Jan 19, 2024)
11-117204332-C-T			Benign (Feb 09, 2018)
11-117206025-G-A			Benign (Dec 31, 2019)
11-117206067-T-G		not specified	Uncertain significance (Mar 02, 2023)
11-117206071-G-C		not specified	Uncertain significance (Jul 20, 2021)
11-117206158-C-T		not specified	Uncertain significance (Nov 22, 2023)
11-117206295-T-C		not specified	Uncertain significance (May 05, 2023)
11-117206302-C-T		not specified	Uncertain significance (Nov 15, 2021)
11-117206349-A-G		not specified	Uncertain significance (Nov 14, 2023)
11-117206762-G-A			Likely benign (Aug 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAGLN	protein_coding	protein_coding	ENST00000532870	4	5462

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0853	0.876	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.367	112	123	0.907	0.00000723	1328
Missense in Polyphen		20	35.082	0.57009		423
Synonymous	0.436	42	45.8	0.918	0.00000266	373
Loss of Function	1.76	3	8.55	0.351	3.62e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence. {ECO:0000250}.
• Pathway: PDGFR-beta signaling pathway (Consensus)

Recessive Scores

• pRec: 0.358

Intolerance Scores

• loftool: 0.0465
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.624
• hipred: N
• hipred_score: 0.444
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.940

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tagln
• Phenotype: muscle phenotype; 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); normal phenotype; reproductive system phenotype; growth/size/body region phenotype; 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); 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); digestive/alimentary phenotype; renal/urinary system phenotype; skeleton phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); neoplasm

Gene ontology

• Biological process: muscle organ development;epithelial cell differentiation
• Cellular component: cytoplasm
• Molecular function: protein binding;actin filament binding