TMEM245

transmembrane protein 245, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 9:109015135-109119947

Previous symbols: [ "C9orf5" ]

Links

ENSG00000106771 ∙ NCBI:23731 ∙ OMIM:620252 ∙ HGNC:1363 ∙ Uniprot:Q9H330 ∙ 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 TMEM245 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM245 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				1	1	2
missense			39	2		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	1

Variants in TMEM245

This is a list of pathogenic ClinVar variants found in the TMEM245 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-109020475-T-A		not specified	Uncertain significance (Mar 19, 2024)
9-109020480-G-C		not specified	Uncertain significance (Mar 06, 2023)
9-109033308-G-A		not specified	Uncertain significance (Dec 19, 2023)
9-109033376-G-C		not specified	Uncertain significance (Nov 15, 2021)
9-109033419-T-C		not specified	Uncertain significance (May 30, 2023)
9-109036279-C-T		not specified	Uncertain significance (Nov 15, 2021)
9-109050358-A-G		not specified	Uncertain significance (Oct 26, 2022)
9-109050645-C-G			Likely benign (May 01, 2022)
9-109057269-C-G		not specified	Uncertain significance (Dec 07, 2021)
9-109057273-C-T		not specified	Uncertain significance (Nov 20, 2023)
9-109057284-C-A		not specified	Uncertain significance (Jul 27, 2021)
9-109057304-T-C		not specified	Uncertain significance (Oct 12, 2022)
9-109060428-C-A		not specified	Uncertain significance (Jan 07, 2022)
9-109073383-G-A		not specified	Uncertain significance (Jul 27, 2021)
9-109073417-T-C		not specified	Uncertain significance (Mar 02, 2023)
9-109087218-C-A		not specified	Uncertain significance (Oct 26, 2022)
9-109087255-C-T		not specified	Uncertain significance (Jan 19, 2022)
9-109087265-T-C		not specified	Likely benign (Aug 30, 2022)
9-109087272-C-G		not specified	Uncertain significance (May 07, 2024)
9-109087295-G-A			Benign (Dec 31, 2019)
9-109087303-A-G		not specified	Uncertain significance (Oct 02, 2023)
9-109087330-T-C		not specified	Uncertain significance (Jun 17, 2022)
9-109090930-G-C		not specified	Uncertain significance (Apr 24, 2023)
9-109091056-C-A		not specified	Uncertain significance (Dec 22, 2023)
9-109091095-G-C		not specified	Uncertain significance (Jun 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM245	protein_coding	protein_coding	ENST00000374586	18	104794

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000363	1.00	124726	0	68	124794	0.000272

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	354	426	0.831	0.0000212	5528
Missense in Polyphen		87	139.94	0.62168		1793
Synonymous	-1.71	200	172	1.17	0.00000905	1811
Loss of Function	3.68	17	43.0	0.395	0.00000203	501

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000282	0.000282
Ashkenazi Jewish	0.00	0.00
East Asian	0.000281	0.000278
Finnish	0.00135	0.00135
European (Non-Finnish)	0.000187	0.000185
Middle Eastern	0.000281	0.000278
South Asian	0.000131	0.000131
Other	0.000495	0.000495

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.196

Intolerance Scores

• rvis_EVS: -0.53
• rvis_percentile_EVS: 20.78

Haploinsufficiency Scores

• pHI: 0.305
• hipred: Y
• hipred_score: 0.575
• ghis: 0.588

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem245

Gene ontology

• Biological process: biological_process
• Cellular component: integral component of membrane
• Molecular function: molecular_function