THAP6

THAP domain containing 6, the group of THAP domain containing

Basic information

Region (hg38): 4:75513945-75550473

Links

ENSG00000174796 ∙ NCBI:152815 ∙ OMIM:612535 ∙ HGNC:23189 ∙ Uniprot:Q8TBB0 ∙ 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 THAP6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THAP6 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in THAP6

This is a list of pathogenic ClinVar variants found in the THAP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-75514219-T-C		not specified	Uncertain significance (Jun 18, 2024)
4-75514253-C-A		not specified	Uncertain significance (Dec 13, 2023)
4-75514254-G-C		not specified	Likely benign (Jan 03, 2024)
4-75514275-C-T			Benign (May 15, 2018)
4-75515471-G-A		not specified	Uncertain significance (Jan 19, 2022)
4-75516834-A-G		not specified	Uncertain significance (Oct 02, 2023)
4-75516845-A-G		not specified	Uncertain significance (Jul 06, 2022)
4-75516869-G-T		not specified	Uncertain significance (Jan 08, 2024)
4-75516891-A-G		not specified	Uncertain significance (Mar 11, 2024)
4-75516893-A-G		not specified	Uncertain significance (Dec 01, 2022)
4-75516966-C-T		not specified	Uncertain significance (Apr 13, 2023)
4-75521784-G-A		not specified	Uncertain significance (Jul 13, 2022)
4-75521811-C-G		not specified	Uncertain significance (Jun 04, 2024)
4-75526985-G-A		not specified	Uncertain significance (Feb 07, 2023)
4-75526988-C-T		not specified	Uncertain significance (Dec 19, 2022)
4-75527003-A-G		not specified	Uncertain significance (Jul 12, 2022)
4-75527038-A-G		not specified	Uncertain significance (Jun 06, 2023)
4-75527053-C-T		not specified	Uncertain significance (Oct 29, 2021)
4-75527149-A-G		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THAP6	protein_coding	protein_coding	ENST00000311638	4	36528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000557	0.721	125669	0	76	125745	0.000302

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.352	109	120	0.910	0.00000612	1476
Missense in Polyphen		18	26.574	0.67736		318
Synonymous	0.0984	44	44.8	0.981	0.00000247	391
Loss of Function	0.886	6	8.84	0.678	4.52e-7	122

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000605	0.000605
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.000791	0.000786
European (Non-Finnish)	0.000285	0.000281
Middle Eastern	0.000435	0.000435
South Asian	0.000131	0.000131
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.411
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.14

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.146
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: microtubule cytoskeleton
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding