SSMEM1

serine rich single-pass membrane protein 1

Basic information

Region (hg38): 7:130206344-130216844

Previous symbols: [ "C7orf45" ]

Links

ENSG00000165120 ∙ NCBI:136263 ∙ ∙ HGNC:29580 ∙ Uniprot:Q8WWF3 ∙ 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 SSMEM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSMEM1 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			17	5		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	5	0

Variants in SSMEM1

This is a list of pathogenic ClinVar variants found in the SSMEM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-130207948-C-T		not specified	Uncertain significance (Sep 25, 2023)
7-130207999-G-C		not specified	Uncertain significance (Mar 18, 2024)
7-130208020-C-T		not specified	Uncertain significance (Aug 27, 2024)
7-130208026-G-A		not specified	Uncertain significance (Nov 10, 2024)
7-130208055-G-A		not specified	Likely benign (Aug 28, 2024)
7-130213520-C-G		not specified	Uncertain significance (Nov 05, 2021)
7-130215978-C-A		not specified	Uncertain significance (Jan 24, 2025)
7-130216027-T-C		not specified	Uncertain significance (May 18, 2023)
7-130216081-G-A		not specified	Uncertain significance (May 16, 2023)
7-130216127-G-A		not specified	Uncertain significance (Mar 03, 2025)
7-130216153-C-G		not specified	Uncertain significance (Sep 06, 2022)
7-130216157-A-G		not specified	Uncertain significance (Nov 15, 2021)
7-130216178-C-T		not specified	Uncertain significance (Dec 05, 2024)
7-130216196-A-G		not specified	Uncertain significance (Oct 01, 2024)
7-130216226-A-T		not specified	Uncertain significance (Aug 05, 2024)
7-130216243-C-A		not specified	Uncertain significance (Mar 18, 2024)
7-130216245-C-A		not specified	Uncertain significance (May 17, 2023)
7-130216294-A-T		not specified	Uncertain significance (Feb 28, 2023)
7-130216303-A-C		not specified	Uncertain significance (Jan 27, 2022)
7-130216314-G-A		not specified	Likely benign (Aug 19, 2024)
7-130216317-C-A		not specified	Likely benign (Sep 28, 2022)
7-130216367-C-T		not specified	Likely benign (Jun 21, 2021)
7-130216379-G-A		not specified	Likely benign (Jan 04, 2022)
7-130216433-C-T		not specified	Uncertain significance (Jun 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SSMEM1	protein_coding	protein_coding	ENST00000297819	3	8984

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.78e-14	0.00140	125625	1	122	125748	0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.565	111	129	0.860	0.00000657	1644
Missense in Polyphen		2	4.1496	0.48197		53
Synonymous	0.982	38	46.5	0.817	0.00000266	423
Loss of Function	-1.82	17	10.6	1.60	5.53e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00119	0.00119
Ashkenazi Jewish	0.00	0.00
East Asian	0.00136	0.00136
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000273	0.000273
Middle Eastern	0.00136	0.00136
South Asian	0.00102	0.000980
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.87

Haploinsufficiency Scores

• pHI: 0.388
• hipred: N
• hipred_score: 0.123

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: Ssmem1

Gene ontology

• Cellular component: integral component of membrane