TMEM45B

transmembrane protein 45B

Basic information

Region (hg38): 11:129815848-129860003

Links

ENSG00000151715 ∙ NCBI:120224 ∙ ∙ HGNC:25194 ∙ Uniprot:Q96B21 ∙ 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 TMEM45B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM45B 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			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in TMEM45B

This is a list of pathogenic ClinVar variants found in the TMEM45B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-129852580-C-A		not specified	Likely benign (Dec 13, 2021)
11-129852583-G-A		not specified	Uncertain significance (Oct 10, 2023)
11-129852625-T-C		not specified	Uncertain significance (Nov 18, 2022)
11-129852646-T-C		not specified	Uncertain significance (Mar 25, 2024)
11-129854642-C-T		not specified	Uncertain significance (Feb 17, 2024)
11-129854720-G-A		not specified	Uncertain significance (Aug 30, 2022)
11-129854774-G-C		not specified	Uncertain significance (Dec 17, 2021)
11-129854775-G-A		not specified	Uncertain significance (Nov 02, 2023)
11-129855729-T-C		not specified	Uncertain significance (Sep 01, 2021)
11-129855737-C-T		not specified	Uncertain significance (Feb 15, 2023)
11-129855754-G-C		not specified	Uncertain significance (Aug 13, 2021)
11-129855762-A-C		not specified	Uncertain significance (Apr 11, 2023)
11-129855854-A-G		not specified	Uncertain significance (Aug 15, 2023)
11-129857430-G-C		not specified	Uncertain significance (Jun 16, 2024)
11-129857436-G-A		not specified	Likely benign (Aug 13, 2021)
11-129858635-T-G		not specified	Uncertain significance (Aug 02, 2022)
11-129858651-A-G		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM45B	protein_coding	protein_coding	ENST00000281441	5	44185

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.27e-11	0.0139	125690	0	58	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.251	166	157	1.06	0.00000883	1792
Missense in Polyphen		50	53.3	0.93809		599
Synonymous	-0.165	68	66.3	1.03	0.00000421	527
Loss of Function	-0.792	15	12.0	1.25	5.99e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000557	0.000557
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000246	0.000246
Middle Eastern	0.000272	0.000272
South Asian	0.000163	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.747
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.48

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.300
• ghis: 0.392

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.521

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem45b

Gene ontology

• Cellular component: integral component of membrane