TMEM242

transmembrane protein 242

Basic information

Region (hg38): 6:157289025-157323601

Previous symbols: [ "C6orf35" ]

Links

ENSG00000215712 ∙ NCBI:729515 ∙ ∙ HGNC:17206 ∙ Uniprot:Q9NWH2 ∙ 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 TMEM242 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM242 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in TMEM242

This is a list of pathogenic ClinVar variants found in the TMEM242 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-157292945-A-G		not specified	Uncertain significance (Mar 18, 2024)
6-157292960-T-C		not specified	Likely benign (May 14, 2024)
6-157292969-T-C		not specified	Uncertain significance (Apr 26, 2023)
6-157292986-C-T		not specified	Uncertain significance (Feb 16, 2023)
6-157292995-T-C		not specified	Uncertain significance (Dec 07, 2021)
6-157318825-C-T		not specified	Uncertain significance (Oct 04, 2022)
6-157322743-A-G		not specified	Uncertain significance (Jul 13, 2022)
6-157322775-G-C		not specified	Uncertain significance (Feb 07, 2023)
6-157323468-G-A		not specified	Uncertain significance (Aug 09, 2021)
6-157323470-C-G		not specified	Uncertain significance (Feb 23, 2023)
6-157323474-C-T		not specified	Uncertain significance (Oct 03, 2022)
6-157323484-C-T		not specified	Uncertain significance (Apr 26, 2024)
6-157323489-G-C		not specified	Uncertain significance (Feb 23, 2023)
6-157323489-G-T		not specified	Uncertain significance (Jun 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM242	protein_coding	protein_coding	ENST00000400788	4	34216

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000483	0.439	124745	0	51	124796	0.000204

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.246	75	81.3	0.923	0.00000420	893
Missense in Polyphen		21	26.233	0.80052		295
Synonymous	0.153	33	34.1	0.967	0.00000204	293
Loss of Function	0.342	7	8.05	0.870	4.92e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000952	0.0000937
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.000345	0.000344
Middle Eastern	0.000111	0.000111
South Asian	0.000265	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.112

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.221
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem242

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding