TMEM134

transmembrane protein 134

Basic information

Region (hg38): 11:67461709-67469272

Links

ENSG00000172663 ∙ NCBI:80194 ∙ ∙ HGNC:26142 ∙ Uniprot:Q9H6X4 ∙ 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 TMEM134 gene.

• Inborn genetic diseases (14 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM134 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			14			14
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in TMEM134

This is a list of pathogenic ClinVar variants found in the TMEM134 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-67464623-G-C		not specified	Uncertain significance (Dec 16, 2023)
11-67464641-G-T		not specified	Uncertain significance (Apr 11, 2023)
11-67464647-G-T		not specified	Uncertain significance (Oct 29, 2021)
11-67464663-T-C		not specified	Uncertain significance (Mar 24, 2023)
11-67464678-A-C		not specified	Uncertain significance (Jan 17, 2024)
11-67464809-G-A		not specified	Uncertain significance (Nov 17, 2022)
11-67464829-G-A		not specified	Uncertain significance (Nov 08, 2022)
11-67464851-A-C		not specified	Uncertain significance (Dec 27, 2022)
11-67465091-A-G		not specified	Uncertain significance (Jan 03, 2024)
11-67467523-G-A		not specified	Uncertain significance (Nov 07, 2022)
11-67467558-T-G		not specified	Uncertain significance (Feb 23, 2023)
11-67467562-A-G		not specified	Uncertain significance (Nov 18, 2022)
11-67467568-G-A		not specified	Uncertain significance (Apr 19, 2023)
11-67467580-G-A			Likely benign (Aug 01, 2023)
11-67468070-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-67469020-T-G		not specified	Uncertain significance (Sep 22, 2023)
11-67469024-A-G		not specified	Uncertain significance (Dec 16, 2023)
11-67469038-T-C		not specified	Likely benign (Jan 03, 2024)
11-67469116-T-A		not specified	Uncertain significance (Jun 01, 2023)
11-67469132-C-G		not specified	Uncertain significance (Sep 30, 2022)
11-67469186-C-A		not specified	Uncertain significance (Aug 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM134	protein_coding	protein_coding	ENST00000308022	7	4920

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.04e-10	0.0192	124607	5	1113	125725	0.00446

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.398	106	95.1	1.11	0.00000500	1216
Missense in Polyphen		39	34.471	1.1314		479
Synonymous	-0.650	47	41.7	1.13	0.00000218	390
Loss of Function	-0.954	13	9.78	1.33	5.04e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00290	0.00289
Ashkenazi Jewish	0.00139	0.00139
East Asian	0.000163	0.000163
Finnish	0.00459	0.00458
European (Non-Finnish)	0.00746	0.00742
Middle Eastern	0.000163	0.000163
South Asian	0.00177	0.00177
Other	0.00391	0.00392

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0830
• hipred: N
• hipred_score: 0.123
• ghis: 0.497

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem134

Gene ontology

• Cellular component: integral component of membrane;perinuclear region of cytoplasm
• Molecular function: protein binding