TMED8

transmembrane p24 trafficking protein family member 8, the group of GOLD domain containing

Basic information

Region (hg38): 14:77335028-77377094

Previous symbols: [ "FAM15B" ]

Links

ENSG00000100580 ∙ NCBI:283578 ∙ ∙ HGNC:18633 ∙ Uniprot:Q6PL24 ∙ 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 TMED8 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMED8 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in TMED8

This is a list of pathogenic ClinVar variants found in the TMED8 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-77341894-G-T		not specified	Uncertain significance (May 04, 2023)
14-77341934-C-T		not specified	Uncertain significance (Feb 21, 2024)
14-77343361-T-C		not specified	Uncertain significance (Dec 23, 2022)
14-77343378-C-T		not specified	Uncertain significance (Dec 17, 2023)
14-77343394-G-A		not specified	Uncertain significance (Dec 01, 2022)
14-77343717-A-G		not specified	Uncertain significance (Nov 19, 2022)
14-77343777-A-G		not specified	Uncertain significance (Jul 25, 2023)
14-77343801-T-G		not specified	Uncertain significance (Jan 19, 2024)
14-77346353-T-C		not specified	Likely benign (Jun 22, 2021)
14-77346387-C-T		not specified	Uncertain significance (Jan 10, 2023)
14-77346395-A-T		not specified	Uncertain significance (Dec 19, 2022)
14-77346417-G-A		not specified	Uncertain significance (Aug 01, 2022)
14-77346462-G-A		not specified	Uncertain significance (Feb 06, 2024)
14-77376957-C-A		not specified	Uncertain significance (May 24, 2023)
14-77377011-G-A		not specified	Uncertain significance (Nov 22, 2021)
14-77377050-A-C		not specified	Uncertain significance (Jun 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMED8	protein_coding	protein_coding	ENST00000216468	6	42089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0853	0.906	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	140	178	0.787	0.0000102	2097
Missense in Polyphen		73	85.365	0.85515		939
Synonymous	1.26	53	66.1	0.802	0.00000353	646
Loss of Function	2.29	4	12.9	0.311	6.29e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000231	0.000231
European (Non-Finnish)	0.0000529	0.0000527
Middle Eastern	0.000218	0.000217
South Asian	0.0000983	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.610
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.350
• hipred: N
• hipred_score: 0.154
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.389

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Tmed8