TIGD7

protein-coding

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

Gene summary

The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

MANE transcript

NM_033208.4

Inheritance

—

ClinVar variants

U:83B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr16:3,298,808-3,305,729

External References & Databases

Ensembl (ENSG00000140993)

Transcript & Mutation Effects

hg38 • Region Span ~6.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TIGD7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 85

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033208.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			83 clinvar	3 clinvar	1 clinvar	87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	3	3	89

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033208.4	RefSeq	NP_149985.2	1	MANE Select
ENST00000396862.2	Ensembl	ENSP00000380071.1	1	MANE Select
ENST00000573608.1	Ensembl	ENSP00000459534.1	1	Standard
ENST00000903484.1	Ensembl	ENSP00000573543.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

DNA binding
protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000396862
Coding exons: 1
Length: 6898
Individuals with no LoFs: 125586
Homozygous LoFs: 0
Heterozygous LoFs: 162
Defined: 125748
p: 0.000644

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0562	261	264	0.990	0.0000130	3624
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00070	0.00068	rare
Latino/Admixed American	0.00028	0.00026	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.0012	0.0011	notable
Finnish	0.00015	0.00014	rare
European (Non-Finnish)	0.00083	0.00081	rare
South Asian	0.00056	0.00052	rare
Other	0.00085	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.939
RVIS EVS: -0.64
RVIS percentile EVS: 16.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.202

Gene Damage Prediction

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