SMIM8

small integral membrane protein 8

Basic information

Region (hg38): 6:87322582-87399749

Previous symbols: [ "C6orf162" ]

Links

ENSG00000111850 ∙ NCBI:57150 ∙ ∙ HGNC:21401 ∙ Uniprot:Q96KF7 ∙ 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 SMIM8 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMIM8 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	6	0	0

Variants in SMIM8

This is a list of pathogenic ClinVar variants found in the SMIM8 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-87337120-C-T		not specified	Uncertain significance (Sep 14, 2023)
6-87340147-C-T		not specified	Uncertain significance (Aug 22, 2023)
6-87340165-C-T		not specified	Uncertain significance (Jan 18, 2022)
6-87340168-A-G		not specified	Uncertain significance (Dec 28, 2023)
6-87340212-T-C		not specified	Uncertain significance (Nov 17, 2022)
6-87345169-C-G		not specified	Uncertain significance (Aug 10, 2021)
6-87364965-G-A		not specified	Uncertain significance (Nov 12, 2021)
6-87365133-C-T		not specified	Uncertain significance (Nov 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SMIM8	protein_coding	protein_coding	ENST00000392863	2	19743

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00556	0.497	125691	0	25	125716	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.216	57	52.6	1.08	0.00000282	629
Missense in Polyphen		19	16.286	1.1666		202
Synonymous	1.75	8	17.3	0.463	8.75e-7	182
Loss of Function	-0.130	3	2.77	1.08	1.14e-7	44

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000160	0.000158
Middle Eastern	0.00	0.00
South Asian	0.0000337	0.0000327
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.112
• ghis: 0.537

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: Smim8
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Cellular component: integral component of membrane