TMEM187

transmembrane protein 187, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): X:153972754-153983194

Previous symbols: [ "CXorf12" ]

Links

ENSG00000177854 ∙ NCBI:8269 ∙ OMIM:300059 ∙ HGNC:13705 ∙ Uniprot:Q14656 ∙ 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 TMEM187 gene.

• not_specified (43 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM187 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003492.3. 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				2	1	3
missense			38	7	1	46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	9	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM187	protein_coding	protein_coding	ENST00000369982	1	10869

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0157	0.714	125437	9	13	125459	0.0000877

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.135	129	133	0.967	0.0000127	1654
Missense in Polyphen		30	35.527	0.84444		589
Synonymous	-0.194	72	69.9	1.03	0.00000732	585
Loss of Function	0.683	3	4.58	0.656	2.92e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000774	0.0000616
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000762	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000211	0.000141
Middle Eastern	0.0000762	0.0000544
South Asian	0.000157	0.0000980
Other	0.000250	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.353
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.45

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.201
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.475

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process
• Cellular component: integral component of membrane;transport vesicle
• Molecular function: molecular_function