TEKTIP1

tektin bundle interacting protein 1

Basic information

Region (hg38): 19:3539171-3544030

Previous symbols: [ "C19orf71" ]

Links

ENSG00000183397 ∙ NCBI:100128569 ∙ ∙ HGNC:34496 ∙ Uniprot:A6NCJ1 ∙ 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 TEKTIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEKTIP1 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			9		1	10
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	9	2	1

Variants in TEKTIP1

This is a list of pathogenic ClinVar variants found in the TEKTIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-3543246-T-C		not specified	Uncertain significance (Sep 16, 2021)
19-3543291-C-T		not specified	Uncertain significance (Nov 09, 2021)
19-3543317-C-T		not specified	Uncertain significance (Oct 29, 2021)
19-3543329-G-A		not specified	Uncertain significance (Jan 09, 2024)
19-3543382-C-G			Likely benign (Mar 01, 2023)
19-3543480-G-GC		not specified	Benign (Mar 29, 2016)
19-3543646-G-C			Likely benign (Apr 01, 2022)
19-3543669-G-T		not specified	Uncertain significance (Jul 21, 2021)
19-3543910-C-T		not specified	Uncertain significance (Aug 09, 2021)
19-3543934-G-A		not specified	Uncertain significance (Jun 11, 2021)
19-3543934-G-C		not specified	Uncertain significance (Dec 19, 2023)
19-3543982-C-T			Benign (Sep 01, 2023)
19-3544006-G-A		not specified	Uncertain significance (Nov 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEKTIP1	protein_coding	protein_coding	ENST00000329493	4	4877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.34e-9	0.0486	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.33	179	135	1.32	0.00000941	1298
Missense in Polyphen		47	34.566	1.3597		350
Synonymous	0.0931	57	57.9	0.984	0.00000406	427
Loss of Function	-0.722	11	8.70	1.26	3.75e-7	89

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

Intolerance Scores

• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.66

Haploinsufficiency Scores

• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4930404N11Rik