TMEM248

transmembrane protein 248

Basic information

Region (hg38): 7:66921224-66958551

Previous symbols: [ "C7orf42" ]

Links

ENSG00000106609 ∙ NCBI:55069 ∙ ∙ HGNC:25476 ∙ Uniprot:Q9NWD8 ∙ 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 TMEM248 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM248 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in TMEM248

This is a list of pathogenic ClinVar variants found in the TMEM248 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-66941905-A-G		not specified	Uncertain significance (Sep 13, 2023)
7-66941937-G-A		not specified	Uncertain significance (Apr 05, 2023)
7-66941941-A-G		not specified	Uncertain significance (Nov 29, 2023)
7-66941981-A-G		not specified	Uncertain significance (Jul 15, 2021)
7-66944998-G-A		not specified	Uncertain significance (Apr 20, 2024)
7-66945124-C-T		not specified	Uncertain significance (Jun 16, 2023)
7-66945142-C-T		not specified	Uncertain significance (Apr 13, 2022)
7-66945243-C-T		not specified	Uncertain significance (Nov 30, 2022)
7-66948612-G-A		not specified	Uncertain significance (Jul 09, 2021)
7-66948687-G-A		not specified	Uncertain significance (Jan 29, 2024)
7-66950954-A-G		not specified	Uncertain significance (Jan 26, 2023)
7-66950989-G-A		not specified	Uncertain significance (Jun 06, 2023)
7-66951014-C-T		not specified	Uncertain significance (Sep 01, 2021)
7-66951043-G-C		not specified	Uncertain significance (May 30, 2024)
7-66953233-G-T		not specified	Uncertain significance (Jun 23, 2023)
7-66953254-T-C		not specified	Uncertain significance (Jun 06, 2023)
7-66953365-A-C		not specified	Uncertain significance (May 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM248	protein_coding	protein_coding	ENST00000341567	6	37327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.742	0.257	125737	0	9	125746	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	140	187	0.748	0.0000107	2062
Missense in Polyphen		40	57.756	0.69256		627
Synonymous	-1.39	89	73.8	1.21	0.00000483	610
Loss of Function	2.86	2	13.2	0.151	6.42e-7	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000405	0.000397
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.04

Haploinsufficiency Scores

• pHI: 0.339
• hipred: Y
• hipred_score: 0.630
• ghis: 0.653

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

Mouse Genome Informatics

• Gene name: Tmem248
• Phenotype: digestive/alimentary phenotype; immune system phenotype; hematopoietic system phenotype; reproductive system phenotype; endocrine/exocrine gland phenotype

Gene ontology

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