TBC1D8

TBC1 domain family member 8, the group of GRAM domain containing

Basic information

Region (hg38): 2:101007228-101252866

Links

ENSG00000204634 ∙ NCBI:11138 ∙ ∙ HGNC:17791 ∙ Uniprot:O95759 ∙ 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 TBC1D8 gene.

• not_specified (155 variants)
• not_provided (10 variants)
• RPL31-related_condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBC1D8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001330348.2. 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				1	3	4
missense			148	7		155
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	148	8	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBC1D8	protein_coding	protein_coding	ENST00000376840	20	245250

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.60e-13	1.00	125210	0	97	125307	0.000387

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.39	553	653	0.847	0.0000392	7531
Missense in Polyphen		191	259.44	0.73619		2926
Synonymous	0.186	281	285	0.986	0.0000196	2155
Loss of Function	3.44	30	58.4	0.514	0.00000349	619

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000972	0.000928
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000277	0.000272
Finnish	0.000329	0.000324
European (Non-Finnish)	0.000443	0.000432
Middle Eastern	0.000277	0.000272
South Asian	0.000229	0.000229
Other	0.000674	0.000655

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a GTPase-activating protein for Rab family protein(s).
• Pathway: Cell Cycle (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.525
• rvis_EVS: -1.01
• rvis_percentile_EVS: 8.21

Haploinsufficiency Scores

• pHI: 0.165
• hipred: Y
• hipred_score: 0.510
• ghis: 0.451

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tbc1d8

Gene ontology

• Biological process: intracellular protein transport;blood circulation;positive regulation of cell population proliferation;activation of GTPase activity;regulation of cilium assembly
• Cellular component: cell;membrane
• Molecular function: GTPase activator activity;Rab GTPase binding