TLNRD1

talin rod domain containing 1

Basic information

Region (hg38): 15:81000923-81005788

Previous symbols: [ "MESDC1" ]

Links

ENSG00000140406 ∙ NCBI:59274 ∙ OMIM:615466 ∙ HGNC:13519 ∙ Uniprot:Q9H1K6 ∙ 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 TLNRD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TLNRD1 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				2		2
missense			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	3	0

Variants in TLNRD1

This is a list of pathogenic ClinVar variants found in the TLNRD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-81002309-C-G		not specified	Uncertain significance (May 21, 2024)
15-81002329-A-G		not specified	Uncertain significance (Feb 27, 2023)
15-81002333-C-T		not specified	Uncertain significance (Oct 02, 2023)
15-81002347-A-T		not specified	Uncertain significance (Apr 07, 2023)
15-81002348-G-C		not specified	Uncertain significance (Apr 07, 2023)
15-81002356-C-T		not specified	Uncertain significance (Jul 27, 2021)
15-81002454-C-T			Likely benign (Apr 01, 2024)
15-81002476-G-T		not specified	Likely benign (Apr 07, 2023)
15-81002497-G-C		not specified	Uncertain significance (Mar 19, 2024)
15-81002573-A-G		not specified	Uncertain significance (Feb 12, 2024)
15-81002581-C-T		not specified	Uncertain significance (May 21, 2024)
15-81002651-C-T		not specified	Uncertain significance (Oct 06, 2022)
15-81002692-C-A		not specified	Uncertain significance (Feb 17, 2022)
15-81002693-A-C		not specified	Uncertain significance (Jun 21, 2021)
15-81002694-G-T		not specified	Uncertain significance (Dec 14, 2023)
15-81002713-G-A		not specified	Uncertain significance (Aug 19, 2023)
15-81002721-C-T			Likely benign (Aug 01, 2024)
15-81002793-C-G		not specified	Uncertain significance (Feb 21, 2024)
15-81002884-T-G		not specified	Uncertain significance (May 05, 2023)
15-81002887-C-A			Likely benign (Feb 01, 2023)
15-81002971-G-A		not specified	Uncertain significance (Oct 05, 2023)
15-81003026-G-A		not specified	Uncertain significance (Feb 23, 2023)
15-81003034-G-A		not specified	Uncertain significance (Aug 12, 2021)
15-81003034-G-C		not specified	Uncertain significance (Aug 17, 2022)
15-81003061-T-A		not specified	Uncertain significance (Jun 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TLNRD1	protein_coding	protein_coding	ENST00000267984	1	3048

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.914	0.0858	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.06	139	226	0.614	0.0000162	2241
Missense in Polyphen		39	62.374	0.62526		654
Synonymous	0.768	103	113	0.908	0.00000914	799
Loss of Function	2.60	0	7.88	0.00	4.09e-7	82

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells. {ECO:0000269|PubMed:22179486}.

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.181
• hipred: Y
• hipred_score: 0.528
• ghis: 0.512

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tlnrd1

Gene ontology

• Cellular component: stress fiber
• Molecular function: actin binding