MINAR1

membrane integral NOTCH2 associated receptor 1

Basic information

Region (hg38): 15:79432336-79472304

Previous symbols: [ "KIAA1024" ]

Links

ENSG00000169330 ∙ NCBI:23251 ∙ OMIM:618054 ∙ HGNC:29172 ∙ Uniprot:Q9UPX6 ∙ 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 MINAR1 gene.

• not_specified (152 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MINAR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015206.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			149	5		154
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	149	6	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MINAR1	protein_coding	protein_coding	ENST00000305428	3	39775

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000196	0.999	125679	0	69	125748	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.438	551	523	1.05	0.0000309	6089
Missense in Polyphen		155	168.82	0.91814		2033
Synonymous	-1.09	237	217	1.09	0.0000136	1757
Loss of Function	2.86	13	29.9	0.435	0.00000170	356

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000619	0.000618
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000318	0.000299
Middle Eastern	0.000217	0.000217
South Asian	0.000196	0.000196
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR (PubMed:30080879). Negatively regulates angiogenesis (PubMed:29329397). Negatively regulates cell growth (PubMed:29329397, PubMed:30080879). Negatively regulates neurite outgrowth in hippocampal neurons (By similarity). {ECO:0000250|UniProtKB:D3ZJ47, ECO:0000269|PubMed:29329397, ECO:0000269|PubMed:30080879}.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.6

Haploinsufficiency Scores

• pHI: 0.129
• hipred: Y
• hipred_score: 0.505
• ghis: 0.496

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Minar1

Gene ontology

• Biological process: angiogenesis;negative regulation of cell population proliferation;negative regulation of neuron projection development;negative regulation of angiogenesis;negative regulation of cell growth;negative regulation of protein ubiquitination;negative regulation of TOR signaling
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: protein binding