AMOTL1

angiomotin like 1

Basic information

Region (hg38): 11:94706431-94876748

Links

ENSG00000166025 ∙ NCBI:154810 ∙ OMIM:614657 ∙ HGNC:17811 ∙ Uniprot:Q8IY63 ∙ 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 AMOTL1 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMOTL1 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				1	6	7
missense	1		59			60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	0	59	1	6

Variants in AMOTL1

This is a list of pathogenic ClinVar variants found in the AMOTL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-94795125-C-A		not specified	Uncertain significance (Sep 14, 2022)
11-94795125-C-T		not specified	Uncertain significance (Nov 18, 2023)
11-94799455-G-A		not specified	Uncertain significance (Aug 01, 2022)
11-94799468-C-G		not specified	Uncertain significance (Sep 01, 2021)
11-94799480-C-T		not specified	Uncertain significance (May 03, 2023)
11-94799513-G-A		not specified	Uncertain significance (Sep 15, 2021)
11-94799527-A-G		not specified	Uncertain significance (Oct 27, 2022)
11-94799530-G-A		not specified	Uncertain significance (Sep 22, 2022)
11-94799573-G-A		not specified	Uncertain significance (Dec 03, 2021)
11-94799659-C-T			Pathogenic (Jul 27, 2023)
11-94799660-G-T			Uncertain significance (Aug 31, 2022)
11-94799669-C-T		6 conditions	Conflicting classifications of pathogenicity (Jul 08, 2023)
11-94799709-G-A			Likely benign (Apr 01, 2024)
11-94799791-T-C		not specified	Uncertain significance (Mar 21, 2023)
11-94799807-A-G		not specified	Uncertain significance (Nov 13, 2023)
11-94799830-G-A		not specified	Uncertain significance (Oct 29, 2021)
11-94799903-G-A		not specified	Uncertain significance (Apr 20, 2024)
11-94799904-T-C			Benign (Feb 20, 2018)
11-94799921-C-A		not specified	Uncertain significance (Dec 01, 2022)
11-94799958-C-T			Likely benign (Jun 01, 2024)
11-94800030-C-T			Benign (Feb 20, 2018)
11-94800035-C-T		not specified	Uncertain significance (Nov 06, 2023)
11-94800181-G-A		not specified	Uncertain significance (Feb 23, 2023)
11-94800208-G-A		not specified	Uncertain significance (Feb 17, 2022)
11-94800219-C-A		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AMOTL1	protein_coding	protein_coding	ENST00000433060	13	170322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00183	0.998	124655	0	31	124686	0.000124

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	471	552	0.854	0.0000323	6193
Missense in Polyphen		206	254.17	0.81047		2735
Synonymous	0.301	221	227	0.975	0.0000141	1882
Loss of Function	4.41	14	46.4	0.301	0.00000273	487

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000275	0.000274
Ashkenazi Jewish	0.00	0.00
East Asian	0.000298	0.000278
Finnish	0.000101	0.0000928
European (Non-Finnish)	0.000117	0.000115
Middle Eastern	0.000298	0.000278
South Asian	0.0000657	0.0000654
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. {ECO:0000269|PubMed:22362771}.
• Pathway: Tight junction - Homo sapiens (human);Signal Transduction;Signaling by Hippo (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.671
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.68

Haploinsufficiency Scores

• pHI: 0.327
• hipred: Y
• hipred_score: 0.701
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.695

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Amotl1

Zebrafish Information Network

• Gene name: amotl1
• Affected structure: intersegmental vessel
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: angiogenesis;establishment of cell polarity involved in ameboidal cell migration;Wnt signaling pathway;actin cytoskeleton organization;regulation of cell migration;hippo signaling;positive regulation of blood vessel endothelial cell migration
• Cellular component: cytosol;bicellular tight junction;COP9 signalosome;apical plasma membrane;lamellipodium;cytoplasmic vesicle
• Molecular function: protein binding;identical protein binding