TMEM192

transmembrane protein 192

Basic information

Region (hg38): 4:165070608-165208549

Links

ENSG00000170088 ∙ NCBI:201931 ∙ ∙ HGNC:26775 ∙ Uniprot:Q8IY95 ∙ 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 TMEM192 gene.

• not_specified (29 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM192 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001100389.2. 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						0
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM192	protein_coding	protein_coding	ENST00000306480	6	134128

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000293	0.550	124759	0	36	124795	0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0756	146	143	1.02	0.00000712	1751
Missense in Polyphen		40	40.381	0.99057		569
Synonymous	0.699	49	55.6	0.881	0.00000294	537
Loss of Function	0.811	10	13.2	0.759	8.33e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000246
Ashkenazi Jewish	0.000515	0.000497
East Asian	0.000167	0.000167
Finnish	0.0000929	0.0000928
European (Non-Finnish)	0.000118	0.000115
Middle Eastern	0.000167	0.000167
South Asian	0.000230	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.401
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.04

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.289
• ghis: 0.594

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.170

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem192

Gene ontology

• Cellular component: nucleus;nucleoplasm;lysosome;lysosomal membrane;endosome;late endosome;endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of membrane;perinuclear region of cytoplasm
• Molecular function: protein homodimerization activity