AMOT

angiomotin, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): X:112774503-112840831

Links

ENSG00000126016 ∙ NCBI:154796 ∙ OMIM:300410 ∙ HGNC:17810 ∙ Uniprot:Q4VCS5 ∙ 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 AMOT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMOT 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				2	5	7
missense		1	38	5	2	46
nonsense						0
start loss			1			1
frameshift			1			1
inframe indel				1	1	2
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	1	41	8	8

Variants in AMOT

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

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

Position	Type	Phenotype	Significance	ClinVar
X-112778630-T-G		not specified	Uncertain significance (Sep 13, 2023)
X-112778650-G-A		not specified	Uncertain significance (Jul 14, 2023)
X-112778662-C-G		not specified	Uncertain significance (Mar 01, 2023)
X-112779059-G-A			Benign (Nov 14, 2017)
X-112779087-C-G		not specified	Uncertain significance (May 10, 2022)
X-112779090-C-G		not specified	Likely benign (May 05, 2023)
X-112779110-GC-A			Uncertain significance (Mar 22, 2023)
X-112779131-G-A			Likely benign (Jan 01, 2023)
X-112779197-G-A		not specified	Conflicting classifications of pathogenicity (Aug 10, 2021)
X-112779208-C-T			Benign (Dec 31, 2019)
X-112779270-A-C		not specified	Likely benign (Dec 13, 2022)
X-112779389-GCTGGAGCAGCAGCAGCAGCAACAGCAA-G			Benign (Sep 09, 2019)
X-112779403-A-G			Likely benign (May 01, 2023)
X-112779416-A-G			Likely benign (Aug 01, 2023)
X-112779450-TGGCAGCAGTGGCAGTGATGGC-T			Likely benign (Mar 01, 2023)
X-112779459-T-C			Benign (Dec 31, 2019)
X-112779471-C-T			Likely benign (Jul 01, 2022)
X-112779653-G-T		not specified	Conflicting classifications of pathogenicity (Dec 19, 2023)
X-112779666-C-T		not specified	Uncertain significance (Aug 12, 2021)
X-112779675-G-A		not specified	Uncertain significance (Dec 26, 2023)
X-112780981-T-C		not specified	Uncertain significance (Aug 16, 2022)
X-112781011-C-T		not specified	Uncertain significance (Nov 07, 2023)
X-112781019-C-T			Benign (Nov 15, 2018)
X-112781020-G-A		not specified	Uncertain significance (Aug 08, 2023)
X-112781021-A-T		not specified	Uncertain significance (Aug 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AMOT	protein_coding	protein_coding	ENST00000371959	11	66313

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00334	125688	0	2	125690	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	363	426	0.851	0.0000345	6993
Missense in Polyphen		16	13.682	1.1694		257
Synonymous	0.327	157	162	0.967	0.0000127	2276
Loss of Function	4.81	4	34.4	0.116	0.00000291	502

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)	0.0000244	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions. {ECO:0000269|PubMed:11257124, ECO:0000269|PubMed:16678097}.
• Pathway: Tight junction - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);VEGFA-VEGFR2 Signaling Pathway;Signal Transduction;Signaling by Hippo (Consensus)

Recessive Scores

• pRec: 0.0949

Intolerance Scores

• loftool: 0.111
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.44

Haploinsufficiency Scores

• pHI: 0.378
• hipred: Y
• hipred_score: 0.825
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.964

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Amot
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); embryo phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: amot
• Affected structure: endothelial tip cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: angiogenesis;vasculogenesis;in utero embryonic development;gastrulation with mouth forming second;establishment of cell polarity involved in ameboidal cell migration;chemotaxis;negative regulation of angiogenesis;actin cytoskeleton organization;regulation of cell migration;negative regulation of GTPase activity;cellular protein localization;hippo signaling;positive regulation of embryonic development;cell migration involved in gastrulation;blood vessel endothelial cell migration;regulation of small GTPase mediated signal transduction
• Cellular component: ruffle;nucleus;cytosol;actin filament;bicellular tight junction;COP9 signalosome;external side of plasma membrane;lamellipodium;cell junction;endocytic vesicle;cytoplasmic vesicle
• Molecular function: protein binding;signaling receptor activity;angiostatin binding