MIEN1

migration and invasion enhancer 1

Basic information

Region (hg38): 17:39728495-39730532

Previous symbols: [ "C17orf37" ]

Links

ENSG00000141741 ∙ NCBI:84299 ∙ OMIM:611802 ∙ HGNC:28230 ∙ Uniprot:Q9BRT3 ∙ 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 MIEN1 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIEN1 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	1		7
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	1	0

Variants in MIEN1

This is a list of pathogenic ClinVar variants found in the MIEN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-39729533-C-T		not specified	Likely benign (Jun 05, 2023)
17-39729553-G-A		not specified	Uncertain significance (Nov 19, 2022)
17-39729584-C-A		not specified	Uncertain significance (Jun 26, 2023)
17-39730213-C-G		not specified	Uncertain significance (Jan 06, 2023)
17-39730250-C-G		not specified	Uncertain significance (Dec 05, 2022)
17-39730429-C-T		not specified	Uncertain significance (Jun 09, 2022)
17-39730470-G-A		not specified	Uncertain significance (Jan 08, 2024)
17-39730473-G-A		not specified	Uncertain significance (Jul 14, 2022)
17-39730473-G-C		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIEN1	protein_coding	protein_coding	ENST00000394231	4	2292

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.553	0.435	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.224	59	64.1	0.921	0.00000319	723
Missense in Polyphen		13	16.151	0.8049		198
Synonymous	0.338	25	27.2	0.918	0.00000133	230
Loss of Function	2.02	1	6.60	0.152	3.66e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process. {ECO:0000269|PubMed:19503095, ECO:0000269|PubMed:21628459}.

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.198
• hipred: N
• hipred_score: 0.279
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mien1

Gene ontology

• Biological process: apoptotic process;response to selenium ion;positive regulation of cell migration;negative regulation of apoptotic process;positive regulation of filopodium assembly
• Cellular component: cytosol;intrinsic component of the cytoplasmic side of the plasma membrane
• Molecular function: protein binding