TIGD7

tigger transposable element derived 7, the group of DNA transposon derived genes|Helix-turn-helix CENPB type domain containing

Basic information

Region (hg38): 16:3298808-3305729

Links

ENSG00000140993 ∙ NCBI:91151 ∙ OMIM:612969 ∙ HGNC:18331 ∙ Uniprot:Q6NT04 ∙ 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 TIGD7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIGD7 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			45	2	1	48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	2	3

Variants in TIGD7

This is a list of pathogenic ClinVar variants found in the TIGD7 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3298975-G-T		not specified	Uncertain significance (Feb 12, 2025)
16-3298985-T-C			Benign (Aug 16, 2017)
16-3298996-C-T		not specified	Likely benign (Apr 08, 2022)
16-3298997-T-C		not specified	Uncertain significance (Jan 19, 2025)
16-3299039-T-C		not specified	Uncertain significance (Oct 06, 2021)
16-3299096-T-A		not specified	Uncertain significance (Sep 10, 2024)
16-3299121-C-G		not specified	Uncertain significance (Aug 31, 2023)
16-3299165-A-C		not specified	Uncertain significance (Jul 06, 2021)
16-3299177-C-G		not specified	Uncertain significance (Aug 19, 2024)
16-3299244-T-C		not specified	Uncertain significance (Sep 12, 2023)
16-3299246-T-C		not specified	Uncertain significance (Apr 13, 2022)
16-3299301-C-A		not specified	Uncertain significance (Sep 29, 2023)
16-3299348-T-C		not specified	Uncertain significance (Aug 19, 2024)
16-3299353-C-G		not specified	Uncertain significance (Jan 29, 2024)
16-3299360-C-G		not specified	Uncertain significance (Sep 01, 2021)
16-3299464-G-A		not specified	Uncertain significance (Jan 22, 2024)
16-3299477-T-C		not specified	Likely benign (Mar 31, 2024)
16-3299483-T-C		not specified	Uncertain significance (Feb 19, 2025)
16-3299545-C-T		not specified	Uncertain significance (Sep 01, 2021)
16-3299564-G-C		not specified	Uncertain significance (Feb 19, 2025)
16-3299606-T-C		not specified	Uncertain significance (Jan 26, 2025)
16-3299617-C-T		not specified	Uncertain significance (Mar 07, 2025)
16-3299698-G-A		not specified	Uncertain significance (Jan 29, 2024)
16-3299704-G-C		not specified	Uncertain significance (Oct 01, 2024)
16-3299719-G-A		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIGD7	protein_coding	protein_coding	ENST00000396862	1	6898

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.07e-12	0.0644	125586	0	162	125748	0.000644

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0562	261	264	0.990	0.0000130	3624
Missense in Polyphen		62	70.451	0.88004		1006
Synonymous	0.669	86	94.3	0.912	0.00000472	996
Loss of Function	0.352	19	20.7	0.917	0.00000136	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000974	0.000955
Ashkenazi Jewish	0.000603	0.000595
East Asian	0.00116	0.00109
Finnish	0.000146	0.000139
European (Non-Finnish)	0.000834	0.000809
Middle Eastern	0.00116	0.00109
South Asian	0.000565	0.000523
Other	0.000849	0.000815

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.939
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.63

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.146
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.202

Gene Damage Prediction

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

Gene ontology

• Cellular component: nucleus
• Molecular function: DNA binding;protein binding