TMEM168

transmembrane protein 168

Basic information

Region (hg38): 7:112762377-112790423

Links

ENSG00000146802 ∙ NCBI:64418 ∙ ∙ HGNC:25826 ∙ Uniprot:Q9H0V1 ∙ 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 TMEM168 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM168 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			37		1	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	0	1

Variants in TMEM168

This is a list of pathogenic ClinVar variants found in the TMEM168 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-112767238-C-T		not specified	Uncertain significance (Apr 09, 2024)
7-112767447-A-T		not specified	Uncertain significance (Jun 16, 2023)
7-112767561-A-G		not specified	Uncertain significance (Jun 24, 2022)
7-112767625-C-T		not specified	Uncertain significance (Nov 13, 2023)
7-112767642-G-C		not specified	Uncertain significance (Apr 05, 2023)
7-112767696-T-G		not specified	Uncertain significance (Nov 02, 2023)
7-112767715-T-C		not specified	Uncertain significance (Dec 20, 2021)
7-112767730-G-A		not specified	Uncertain significance (Nov 09, 2022)
7-112772814-G-T		not specified	Uncertain significance (Nov 20, 2023)
7-112772849-G-A		not specified	Uncertain significance (Jan 03, 2024)
7-112772858-A-G		not specified	Uncertain significance (May 23, 2023)
7-112772864-C-T		not specified	Uncertain significance (May 17, 2023)
7-112772894-T-G		not specified	Uncertain significance (May 18, 2023)
7-112772957-T-C		not specified	Uncertain significance (May 09, 2022)
7-112773023-T-G		not specified	Uncertain significance (Dec 26, 2023)
7-112775257-T-A		not specified	Uncertain significance (Sep 16, 2021)
7-112775267-A-T		not specified	Uncertain significance (Dec 08, 2023)
7-112775314-G-T		not specified	Uncertain significance (Jun 16, 2023)
7-112775315-T-C		not specified	Uncertain significance (Feb 28, 2023)
7-112783740-A-C		not specified	Uncertain significance (Jun 28, 2023)
7-112783898-T-A		not specified	Uncertain significance (Dec 21, 2023)
7-112783964-T-A		not specified	Uncertain significance (Oct 14, 2021)
7-112784020-A-G		not specified	Uncertain significance (Jan 03, 2022)
7-112784096-T-G		not specified	Uncertain significance (Aug 01, 2022)
7-112784174-C-G		not specified	Uncertain significance (Oct 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM168	protein_coding	protein_coding	ENST00000312814	4	28211

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00427	0.994	125677	0	70	125747	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.890	325	373	0.870	0.0000193	4552
Missense in Polyphen		92	113.29	0.81209		1358
Synonymous	-0.813	147	135	1.09	0.00000702	1375
Loss of Function	2.80	8	22.2	0.360	9.30e-7	334

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000440	0.000440
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000318	0.000316
Middle Eastern	0.000272	0.000272
South Asian	0.000464	0.000457
Other	0.000205	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.234
• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.31

Haploinsufficiency Scores

• pHI: 0.505
• hipred: N
• hipred_score: 0.333
• ghis: 0.646

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.584

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem168

Gene ontology

• Cellular component: integral component of membrane;transport vesicle