MIPOL1

protein-coding

mirror-image polydactyly 1

Gene summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]

MANE transcript

NM_001388067.1

Inheritance

—

ClinVar variants

U:73B:7

Top phenotype

MIPOL1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr14:37,197,894-37,579,125

External References & Databases

Ensembl (ENSG00000151338)

Transcript & Mutation Effects

hg38 • Region Span ~381.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIPOL1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 69

MIPOL1-related disorderTotal: 6

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001388067.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			67 clinvar	5 clinvar		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	73	7	0	80

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 111 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001388067.1	RefSeq	NP_001374996.1	11	MANE Select
ENST00000684589.1	Ensembl	ENSP00000506738.1	11	MANE Select
NM_001195296.2	RefSeq	NP_001182225.1	11	Standard
NM_001195297.2	RefSeq	NP_001182226.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
identical protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327441
Coding exons: 11
Length: 354449
Individuals with no LoFs: 125648
Homozygous LoFs: 2
Heterozygous LoFs: 96
Defined: 125746
p: 0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.422	238	220	1.08	0.0000109	2925
Missense (PolyPhen)		58	68.132	0.85128		958
Synonymous	0.484	69	74.3	0.929	0.00000358	754
Loss of Function	1.16	20	26.4	0.757	0.00000136	336

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00044	0.00043	rare
Latino/Admixed American	0.00051	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00028	0.00027	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00044	0.00043	rare
South Asian	0.00063	0.00056	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0916

Intolerance Scores

LoFtool: 0.843
RVIS EVS: -0.71
RVIS percentile EVS: 14.5

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.274

Gene Damage Prediction

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