SMIM14

small integral membrane protein 14

Basic information

Region (hg38): 4:39546336-39638902

Previous symbols: [ "C4orf34" ]

Links

ENSG00000163683 ∙ NCBI:201895 ∙ ∙ HGNC:27321 ∙ Uniprot:Q96QK8 ∙ 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 SMIM14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMIM14 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			6			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	6	0	0

Variants in SMIM14

This is a list of pathogenic ClinVar variants found in the SMIM14 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-39552152-C-A		not specified	Uncertain significance (Nov 03, 2022)
4-39556465-C-T		not specified	Uncertain significance (Mar 03, 2025)
4-39556491-G-T		not specified	Uncertain significance (Oct 01, 2024)
4-39556568-G-A		not specified	Uncertain significance (Jun 28, 2022)
4-39605075-T-C		not specified	Uncertain significance (Feb 13, 2024)
4-39605076-T-A		not specified	Uncertain significance (Dec 21, 2024)
4-39605096-T-C		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SMIM14	protein_coding	protein_coding	ENST00000295958	4	92761

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.792	0.203	125588	0	2	125590	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.967	32	51.5	0.621	0.00000237	630
Missense in Polyphen		6	16.144	0.37165		217
Synonymous	1.11	12	18.0	0.667	8.51e-7	192
Loss of Function	2.11	0	5.19	0.00	2.17e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.148
• hipred: N
• hipred_score: 0.390
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Smim14

Gene ontology

• Biological process: blastocyst hatching
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane
• Molecular function: protein binding