THAP8

THAP domain containing 8, the group of THAP domain containing

Basic information

Region (hg38): 19:36034984-36054739

Links

ENSG00000161277 ∙ NCBI:199745 ∙ OMIM:612536 ∙ HGNC:23191 ∙ Uniprot:Q8NA92 ∙ 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 THAP8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THAP8 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			23	2		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in THAP8

This is a list of pathogenic ClinVar variants found in the THAP8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-36035460-T-C		not specified	Uncertain significance (Jan 26, 2022)
19-36035474-G-A		not specified	Uncertain significance (May 14, 2024)
19-36035526-T-A		not specified	Uncertain significance (Feb 10, 2022)
19-36035546-A-T		not specified	Uncertain significance (Dec 13, 2023)
19-36035561-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-36039327-C-T		not specified	Uncertain significance (Jan 16, 2024)
19-36039343-G-A		not specified	Likely benign (Feb 28, 2023)
19-36039447-C-T		not specified	Uncertain significance (Feb 24, 2022)
19-36039448-G-A		not specified	Uncertain significance (Dec 30, 2023)
19-36039501-G-C		not specified	Uncertain significance (May 23, 2024)
19-36039528-G-T		not specified	Uncertain significance (Mar 15, 2024)
19-36039534-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-36039585-G-A		not specified	Uncertain significance (Sep 27, 2021)
19-36039609-C-T		not specified	Likely benign (May 05, 2023)
19-36039642-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-36039646-G-A		not specified	Likely benign (Jun 19, 2024)
19-36039654-G-A		not specified	Uncertain significance (May 04, 2022)
19-36039678-G-A		not specified	Uncertain significance (Apr 22, 2024)
19-36039976-G-A		not specified	Uncertain significance (Dec 19, 2023)
19-36039991-G-A		not specified	Uncertain significance (Oct 04, 2022)
19-36039999-C-T		not specified	Uncertain significance (Jun 22, 2024)
19-36040002-A-G		not specified	Uncertain significance (Jun 17, 2024)
19-36040012-G-A		not specified	Uncertain significance (Oct 06, 2021)
19-36040024-A-G		not specified	Uncertain significance (Jan 03, 2024)
19-36040038-T-C		not specified	Uncertain significance (Apr 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THAP8	protein_coding	protein_coding	ENST00000292894	4	19778

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000140	0.230	125610	0	131	125741	0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0914	151	148	1.02	0.00000924	1677
Missense in Polyphen		56	43.775	1.2793		519
Synonymous	0.575	55	60.7	0.906	0.00000321	622
Loss of Function	0.0381	9	9.12	0.986	4.50e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00494	0.00489
Ashkenazi Jewish	0.00	0.00
East Asian	0.00218	0.00218
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000440
Middle Eastern	0.00218	0.00218
South Asian	0.0000329	0.0000327
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0833

Intolerance Scores

• loftool: 0.284
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.99

Haploinsufficiency Scores

• pHI: 0.0947
• hipred: N
• hipred_score: 0.123
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.756

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
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding