TAGAP

T cell activation RhoGTPase activating protein, the group of Rho GTPase activating proteins

Basic information

Region (hg38): 6:159034467-159045152

Links

ENSG00000164691 ∙ NCBI:117289 ∙ OMIM:609667 ∙ HGNC:15669 ∙ Uniprot:Q8N103 ∙ 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 TAGAP gene.

• Inborn genetic diseases (12 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAGAP 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			10		4	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	12	0	4

Variants in TAGAP

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

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

Position	Type	Phenotype	Significance	ClinVar
6-159035967-G-A		not specified	Uncertain significance (Jan 08, 2024)
6-159036024-A-T		not specified	Uncertain significance (Dec 17, 2023)
6-159036117-G-C		not specified	Uncertain significance (Mar 25, 2022)
6-159036363-C-T		not specified	Uncertain significance (Sep 16, 2021)
6-159036389-T-C		not specified	Uncertain significance (Aug 13, 2021)
6-159036475-G-C		not specified	Uncertain significance (Sep 22, 2022)
6-159036560-T-C		not specified	Uncertain significance (Sep 22, 2023)
6-159036623-G-T		not specified	Uncertain significance (Dec 01, 2022)
6-159036645-A-G		not specified	Uncertain significance (Nov 02, 2023)
6-159036840-G-C		not specified	Uncertain significance (Jan 24, 2024)
6-159036851-C-T		not specified	Uncertain significance (Jun 09, 2022)
6-159036984-G-T			Benign (Aug 14, 2018)
6-159036986-C-T			Benign (Jul 06, 2018)
6-159036992-C-T			Benign (Jul 06, 2018)
6-159038162-G-A			Benign (Aug 14, 2018)
6-159038213-C-T		not specified	Uncertain significance (Mar 07, 2023)
6-159038219-G-C		not specified	Uncertain significance (Apr 13, 2022)
6-159039153-C-G		not specified	Uncertain significance (Dec 17, 2023)
6-159039290-G-A		not specified	Uncertain significance (Aug 12, 2022)
6-159039308-C-T		not specified	Uncertain significance (Oct 26, 2021)
6-159040754-C-A		not specified	Uncertain significance (Aug 04, 2022)
6-159041501-A-C		not specified	Uncertain significance (Mar 24, 2023)
6-159041503-T-C		not specified	Uncertain significance (Jul 09, 2021)
6-159043651-T-C		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAGAP	protein_coding	protein_coding	ENST00000367066	9	10685

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.846	0.154	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	347	429	0.809	0.0000251	4809
Missense in Polyphen		73	101.93	0.71621		1222
Synonymous	-0.473	200	192	1.04	0.0000133	1481
Loss of Function	3.10	2	14.9	0.134	6.28e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a GTPase-activating protein and may play important roles during T-cell activation. {ECO:0000269|PubMed:15177553}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.572
• rvis_EVS: 0.94
• rvis_percentile_EVS: 89.86

Haploinsufficiency Scores

• pHI: 0.651
• hipred: N
• hipred_score: 0.302
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.331

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tagap1

Gene ontology

• Biological process: signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cytosol
• Molecular function: guanyl-nucleotide exchange factor activity;GTPase activator activity