FPGT-TNNI3K

FPGT-TNNI3K readthrough, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:74198234-74544393

Links

ENSG00000259030 ∙ NCBI:100526835 ∙ ∙ HGNC:42952 ∙ ∙ ∙ 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 FPGT-TNNI3K gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FPGT-TNNI3K 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	0	0	1

Variants in FPGT-TNNI3K

This is a list of pathogenic ClinVar variants found in the FPGT-TNNI3K region.

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

Position	Type	Phenotype	Significance	ClinVar
1-74198247-C-A		not specified	Uncertain significance (Sep 26, 2022)
1-74198286-C-A		not specified	Uncertain significance (Sep 26, 2022)
1-74198351-G-A		not specified	Uncertain significance (Jun 30, 2023)
1-74199699-G-A		not specified	Uncertain significance (Jul 12, 2023)
1-74199727-A-G		not specified	Uncertain significance (Apr 18, 2023)
1-74199766-A-G		not specified	Uncertain significance (Apr 18, 2023)
1-74199816-G-C		not specified	Uncertain significance (Nov 08, 2022)
1-74199819-G-A		not specified	Uncertain significance (Mar 29, 2022)
1-74201361-G-C		not specified	Uncertain significance (Sep 14, 2023)
1-74201392-A-G		not specified	Uncertain significance (Mar 11, 2022)
1-74201408-C-G		not specified	Uncertain significance (Sep 22, 2023)
1-74204397-A-G		not specified	Uncertain significance (Aug 12, 2021)
1-74204487-A-G		not specified	Uncertain significance (Nov 18, 2022)
1-74204522-A-C		not specified	Uncertain significance (Sep 12, 2023)
1-74204565-A-G		not specified	Uncertain significance (Jul 05, 2023)
1-74204611-T-G		not specified	Uncertain significance (Sep 01, 2021)
1-74204633-A-G		not specified	Uncertain significance (May 27, 2022)
1-74204672-G-T		not specified	Uncertain significance (Aug 02, 2023)
1-74204681-G-C		not specified	Uncertain significance (Dec 05, 2022)
1-74204723-C-T		not specified	Uncertain significance (Nov 10, 2023)
1-74204741-A-G		not specified	Uncertain significance (Nov 19, 2022)
1-74204744-A-G		not specified	Uncertain significance (Apr 06, 2023)
1-74204790-T-C		not specified	Uncertain significance (Dec 08, 2021)
1-74204825-G-A		not specified	Uncertain significance (Sep 14, 2022)
1-74204992-G-T		not specified	Uncertain significance (Dec 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FPGT-TNNI3K	protein_coding	protein_coding	ENST00000557284	27	345748

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.25e-48	2.45e-9	125042	5	701	125748	0.00281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.733	553	507	1.09	0.0000255	6173
Missense in Polyphen		190	196.34	0.9677		2453
Synonymous	-0.128	184	182	1.01	0.00000908	1801
Loss of Function	-1.15	67	57.6	1.16	0.00000299	695

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0105	0.0105
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00237	0.00234
Finnish	0.0000472	0.0000462
European (Non-Finnish)	0.00172	0.00170
Middle Eastern	0.00237	0.00234
South Asian	0.00497	0.00485
Other	0.00296	0.00277

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cardiac physiology. {ECO:0000303|PubMed:12721663}.
• Disease: DISEASE: Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) [MIM:616117]: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. {ECO:0000269|PubMed:24925317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Intolerance Scores

• rvis_EVS: -0.39
• rvis_percentile_EVS: 27.08

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.501

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: MAPK cascade
• Molecular function: protein serine/threonine kinase activity;ATP binding