TMEM135

transmembrane protein 135, the group of Tim17 family

Basic information

Region (hg38): 11:87037844-87328824

Links

ENSG00000166575 ∙ NCBI:65084 ∙ OMIM:616360 ∙ HGNC:26167 ∙ Uniprot:Q86UB9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM135 gene.

• not_specified (40 variants)
• TMEM135-related_disorder (7 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM135 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022918.4. 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				1	1	2
missense			39	4	3	46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	5	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM135	protein_coding	protein_coding	ENST00000305494	15	285915

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.779	0.221	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	177	246	0.720	0.0000117	3000
Missense in Polyphen		21	55.606	0.37766		681
Synonymous	-0.714	94	85.6	1.10	0.00000413	856
Loss of Function	3.92	5	27.0	0.185	0.00000130	348

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000707	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization. {ECO:0000250|UniProtKB:Q5U4F4, ECO:0000250|UniProtKB:Q9CYV5}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.673
• rvis_EVS: 1
• rvis_percentile_EVS: 90.65

Haploinsufficiency Scores

• pHI: 0.283
• hipred: Y
• hipred_score: 0.591
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0545

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem135

Gene ontology

• Biological process: peroxisome organization;response to cold;response to food;regulation of mitochondrial fission
• Cellular component: peroxisome;peroxisomal membrane;lipid droplet;integral component of membrane;mitochondrial membrane