THEM6

thioesterase superfamily member 6, the group of Thioesterase superfamily

Basic information

Region (hg38): 8:142727222-142736927

Previous symbols: [ "C8orf55" ]

Links

ENSG00000130193 ∙ NCBI:51337 ∙ ∙ HGNC:29656 ∙ Uniprot:Q8WUY1 ∙ 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 THEM6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THEM6 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in THEM6

This is a list of pathogenic ClinVar variants found in the THEM6 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-142727440-C-A		not specified	Uncertain significance (May 05, 2023)
8-142727504-G-A		not specified	Uncertain significance (Mar 24, 2023)
8-142727515-T-A		not specified	Uncertain significance (Dec 27, 2023)
8-142727528-T-C		not specified	Uncertain significance (Dec 13, 2023)
8-142727560-C-T		not specified	Uncertain significance (Jul 14, 2021)
8-142727653-T-A		not specified	Uncertain significance (May 26, 2024)
8-142727675-C-T		not specified	Uncertain significance (Jan 09, 2024)
8-142727678-T-G		not specified	Uncertain significance (May 06, 2024)
8-142727711-G-A		not specified	Uncertain significance (Sep 06, 2022)
8-142727752-C-T		not specified	Uncertain significance (Dec 03, 2021)
8-142727774-G-C		not specified	Uncertain significance (Jan 16, 2024)
8-142727818-A-T		not specified	Uncertain significance (Jun 24, 2022)
8-142727819-C-T		not specified	Uncertain significance (Jun 24, 2022)
8-142727839-C-G		not specified	Uncertain significance (May 20, 2024)
8-142735367-C-G		not specified	Uncertain significance (Oct 26, 2021)
8-142735377-G-A		not specified	Uncertain significance (Dec 04, 2023)
8-142735401-A-G		not specified	Uncertain significance (Jun 24, 2022)
8-142735422-G-A		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THEM6	protein_coding	protein_coding	ENST00000336138	2	9725

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0461	0.691	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.892	60	82.9	0.724	0.00000413	1220
Missense in Polyphen		13	27.479	0.4731		411
Synonymous	0.285	39	41.3	0.944	0.00000212	463
Loss of Function	0.592	2	3.13	0.639	1.35e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.354
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Them6

Gene ontology

• Cellular component: extracellular region