TMEM114

transmembrane protein 114

Basic information

Region (hg38): 16:8537605-8590511

Links

ENSG00000232258 ∙ NCBI:283953 ∙ OMIM:611579 ∙ HGNC:33227 ∙ Uniprot:B3SHH9 ∙ 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 TMEM114 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM114 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				2		2
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in TMEM114

This is a list of pathogenic ClinVar variants found in the TMEM114 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-8589653-C-G		TMEM114-related disorder	Likely benign (Jul 08, 2020)
16-8589749-G-A		TMEM114-related disorder	Likely benign (Apr 03, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM114	protein_coding	protein_coding	ENST00000568335	2	2803

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0332	0.630	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.360	81	72.4	1.12	0.00000426	781
Missense in Polyphen		21	26.095	0.80475		282
Synonymous	-0.401	38	35.0	1.09	0.00000226	269
Loss of Function	0.294	2	2.50	0.800	1.06e-7	32

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Disease: DISEASE: Note=Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2). {ECO:0000269|PubMed:17492639}.

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.673

Mouse Genome Informatics

• Gene name: Tmem114
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Cellular component: integral component of membrane;apical plasma membrane;apicolateral plasma membrane