TMEM68

transmembrane protein 68

Basic information

Region (hg38): 8:55696424-55773407

Links

ENSG00000167904 ∙ NCBI:137695 ∙ ∙ HGNC:26510 ∙ Uniprot:Q96MH6 ∙ 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 TMEM68 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM68 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in TMEM68

This is a list of pathogenic ClinVar variants found in the TMEM68 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-55751112-C-T		not specified	Uncertain significance (Oct 25, 2022)
8-55756360-A-G		not specified	Uncertain significance (Feb 15, 2023)
8-55756364-G-C		not specified	Uncertain significance (Nov 03, 2022)
8-55756394-T-C		not specified	Uncertain significance (May 16, 2024)
8-55756405-T-G		not specified	Uncertain significance (May 28, 2024)
8-55762761-T-C		not specified	Uncertain significance (Oct 14, 2023)
8-55762839-C-A		not specified	Uncertain significance (Jun 23, 2023)
8-55762839-C-T		not specified	Uncertain significance (May 21, 2024)
8-55762840-A-C		not specified	Uncertain significance (Apr 18, 2024)
8-55762861-C-G		not specified	Uncertain significance (May 16, 2023)
8-55762893-G-A		not specified	Uncertain significance (Apr 27, 2024)
8-55762908-T-C		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM68	protein_coding	protein_coding	ENST00000334667	4	76984

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00699	0.926	125719	0	27	125746	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	95	136	0.697	0.00000657	1693
Missense in Polyphen		24	43.381	0.55324		553
Synonymous	0.170	42	43.4	0.967	0.00000208	474
Loss of Function	1.58	5	10.5	0.475	5.08e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000437	0.000437
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000976	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.504
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• pHI: 0.287
• hipred: N
• hipred_score: 0.383
• ghis: 0.616

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.427

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem68
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: transferase activity, transferring acyl groups