TIE1

tyrosine kinase with immunoglobulin like and EGF like domains 1, the group of Fibronectin type III domain containing|Immunoglobulin like domain containing|Receptor tyrosine kinases

Basic information

Region (hg38): 1:43300982-43323108

Previous symbols: [ "TIE" ]

Links

ENSG00000066056 ∙ NCBI:7075 ∙ OMIM:600222 ∙ HGNC:11809 ∙ Uniprot:P35590 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• lymphatic malformation 11 (Limited), mode of inheritance: AD
• lymphatic malformation 11 (Limited), mode of inheritance: Unknown
• lymphatic malformation 11 (Strong), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TIE1 gene.

• not_specified (167 variants)
• not_provided (14 variants)
• Lymphatic_malformation_11 (3 variants)
• TIE1-related_disorder (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIE1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005424.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	4	8
missense	2		170	4		176
nonsense			2			2
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			9			9
Total	2	0	182	8	4

Highest pathogenic variant AF is 0.0008263388

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIE1	protein_coding	protein_coding	ENST00000372476	23	22116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125643	0	105	125748	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	615	730	0.843	0.0000499	7249
Missense in Polyphen		259	331.27	0.78183		3396
Synonymous	1.53	263	296	0.887	0.0000197	2398
Loss of Function	2.27	39	57.6	0.677	0.00000302	611

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000938	0.000934
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000272	0.000272
Finnish	0.000246	0.000139
European (Non-Finnish)	0.000439	0.000431
Middle Eastern	0.000272	0.000272
South Asian	0.000667	0.000653
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis. {ECO:0000269|PubMed:20227369}.
• Pathway: Rac1-Pak1-p38-MMP-2 pathway (Consensus)

Recessive Scores

• pRec: 0.268

Intolerance Scores

• loftool: 0.870
• rvis_EVS: -1.97
• rvis_percentile_EVS: 1.83

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.677

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: tie1
• Affected structure: blood vessel endothelium
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: angiogenesis;vasculogenesis;in utero embryonic development;signal transduction;transmembrane receptor protein tyrosine kinase signaling pathway;mesoderm development;negative regulation of angiogenesis;peptidyl-tyrosine phosphorylation;negative regulation of cell migration;response to retinoic acid;plasma membrane fusion;positive regulation of angiogenesis
• Cellular component: integral component of plasma membrane;receptor complex
• Molecular function: transmembrane receptor protein tyrosine kinase activity;protein binding;ATP binding