TMEM263

transmembrane protein 263

Basic information

Region (hg38): 12:106955719-106978778

Previous symbols: [ "C12orf23" ]

Links

ENSG00000151135 ∙ NCBI:90488 ∙ ∙ HGNC:28281 ∙ Uniprot:Q8WUH6 ∙ 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 TMEM263 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM263 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in TMEM263

This is a list of pathogenic ClinVar variants found in the TMEM263 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-106971132-A-C		not specified	Uncertain significance (Sep 18, 2024)
12-106971145-G-T		not specified	Uncertain significance (Dec 20, 2023)
12-106971150-G-A		not specified	Uncertain significance (Jun 02, 2023)
12-106971258-C-A		not specified	Uncertain significance (Nov 27, 2023)
12-106971317-G-A		not specified	Uncertain significance (Jan 29, 2024)
12-106971318-G-A		not specified	Uncertain significance (Feb 27, 2024)
12-106977567-A-G		not specified	Uncertain significance (Sep 07, 2022)
12-106977600-C-T		not specified	Uncertain significance (Dec 05, 2024)
12-106977666-G-C		not specified	Uncertain significance (Dec 19, 2022)
12-106977728-T-C		not specified	Uncertain significance (Nov 10, 2022)
12-106977751-C-T		not specified	Uncertain significance (Jan 19, 2024)
12-106977754-T-C		not specified	Uncertain significance (Aug 05, 2024)
12-106977759-G-A		not specified	Uncertain significance (Aug 23, 2021)
12-106977770-C-G		not specified	Uncertain significance (Jan 26, 2022)
12-106977948-A-C		not specified	Uncertain significance (Jan 23, 2024)
12-106977948-AAAAG-A			Likely benign (May 17, 2018)
12-106977986-T-G		not specified	Uncertain significance (Oct 20, 2024)
12-106977993-C-T		not specified	Likely benign (Jun 18, 2024)
12-106977996-G-A		not specified	Uncertain significance (Oct 10, 2023)
12-106978034-T-C		not specified	Uncertain significance (Sep 10, 2024)
12-106978047-G-C		not specified	Uncertain significance (Mar 22, 2023)
12-106978111-C-T		not specified	Uncertain significance (Feb 11, 2022)
12-106978195-G-A		not specified	Likely benign (Oct 04, 2024)
12-106978215-C-T		not specified	Uncertain significance (Mar 18, 2024)
12-106978228-T-G		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM263	protein_coding	protein_coding	ENST00000280756	2	23060

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00885	0.595	125739	0	7	125746	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	34	61.9	0.549	0.00000282	737
Missense in Polyphen		12	20.841	0.57578		238
Synonymous	-0.213	22	20.8	1.06	8.88e-7	251
Loss of Function	0.260	3	3.53	0.851	1.50e-7	42

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000535	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000366	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.215
• hipred: Y
• hipred_score: 0.625
• ghis: 0.643

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tmem263

Gene ontology

• Cellular component: integral component of membrane