TANGO6

transport and golgi organization 6 homolog, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 16:68843531-69085182

Previous symbols: [ "TMCO7" ]

Links

ENSG00000103047 ∙ NCBI:79613 ∙ OMIM:620188 ∙ HGNC:25749 ∙ Uniprot:Q9C0B7 ∙ 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 TANGO6 gene.

• not_specified (149 variants)
• not_provided (1 variants)
• Myoepithelial_tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TANGO6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024562.2. 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				2		2
missense			141	7		148
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	141	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TANGO6	protein_coding	protein_coding	ENST00000261778	18	241577

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.32e-14	0.988	124572	0	91	124663	0.000365

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.451	538	568	0.947	0.0000297	7024
Missense in Polyphen		114	119.93	0.95056		1503
Synonymous	0.344	221	228	0.971	0.0000126	2229
Loss of Function	2.56	29	48.2	0.602	0.00000236	612

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000807	0.000786
Ashkenazi Jewish	0.00	0.00
East Asian	0.000390	0.000389
Finnish	0.000186	0.000186
European (Non-Finnish)	0.000303	0.000301
Middle Eastern	0.000390	0.000389
South Asian	0.000980	0.000948
Other	0.000167	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0738

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.35

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.368
• ghis: 0.476

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tango6
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; skeleton phenotype

Gene ontology

• Cellular component: integral component of membrane