TMEM207

transmembrane protein 207

Basic information

Region (hg38): 3:190428655-190449901

Links

ENSG00000198398 ∙ NCBI:131920 ∙ OMIM:614786 ∙ HGNC:33705 ∙ Uniprot:Q6UWW9 ∙ 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 TMEM207 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM207 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	1		6
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	1	0

Variants in TMEM207

This is a list of pathogenic ClinVar variants found in the TMEM207 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-190429656-G-T		not specified	Uncertain significance (Apr 18, 2023)
3-190429702-C-T		not specified	Uncertain significance (Nov 29, 2023)
3-190429725-T-C		not specified	Uncertain significance (Jun 16, 2024)
3-190440283-T-C		not specified	Likely benign (May 13, 2024)
3-190440311-T-A		not specified	Uncertain significance (Jan 26, 2023)
3-190441458-G-T		not specified	Uncertain significance (Nov 30, 2021)
3-190447817-G-A		not specified	Uncertain significance (Dec 15, 2023)
3-190449760-C-T		not specified	Uncertain significance (Apr 19, 2024)
3-190449775-G-A		not specified	Likely benign (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM207	protein_coding	protein_coding	ENST00000354905	5	21222

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.23e-11	0.00762	125730	0	12	125742	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.466	90	78.4	1.15	0.00000398	918
Missense in Polyphen		15	15.775	0.95087		217
Synonymous	-0.0681	31	30.5	1.02	0.00000161	309
Loss of Function	-1.62	13	8.04	1.62	4.28e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000619	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.844
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0423

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem207

Gene ontology

• Cellular component: integral component of membrane