TMEM132E-DT

TMEM132E divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:34502380-34579403

Previous symbols: [ "C17orf102" ]

Links

ENSG00000197322 ∙ NCBI:400591 ∙ ∙ HGNC:34412 ∙ Uniprot:A2RUQ5 ∙ 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 TMEM132E-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM132E-DT 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						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	0	0

Variants in TMEM132E-DT

This is a list of pathogenic ClinVar variants found in the TMEM132E-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
17-34578952-C-T		not specified	Uncertain significance (Jul 14, 2021)
17-34579120-C-T		not specified	Uncertain significance (Oct 26, 2021)
17-34579228-G-C		not specified	Uncertain significance (Jul 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM132E-DT	protein_coding	protein_coding	ENST00000357754	2	5247

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00812	0.577	101495	0	4	101499	0.0000197

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.364	109	98.8	1.10	0.00000431	1057
Missense in Polyphen		33	31.275	1.0551		279
Synonymous	1.13	31	40.1	0.773	0.00000178	382
Loss of Function	0.192	3	3.38	0.887	1.50e-7	30

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000246	0.000246
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000246	0.000246
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.772
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.42

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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