AAMP

angio associated migratory cell protein, the group of WD repeat domain containing

Basic information

Region (hg38): 2:218264128-218270178

Links

ENSG00000127837 ∙ NCBI:14 ∙ OMIM:603488 ∙ HGNC:18 ∙ Uniprot:Q13685 ∙ 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 AAMP gene.

• Inborn genetic diseases (7 variants)
• not provided (2 variants)

Variants pathogenicity by type

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

Variants in AAMP

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

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

Position	Type	Phenotype	Significance	ClinVar
2-218265651-G-A		not specified	Uncertain significance (Jan 31, 2024)
2-218265844-G-A		not specified	Uncertain significance (Nov 21, 2022)
2-218266487-T-G		not specified	Uncertain significance (Dec 18, 2023)
2-218266490-A-C		not specified	Uncertain significance (Dec 27, 2023)
2-218266547-C-G		not specified	Uncertain significance (Dec 28, 2022)
2-218266579-C-G		not specified	Uncertain significance (Mar 01, 2024)
2-218266900-A-T		not specified	Uncertain significance (Jan 17, 2024)
2-218267521-C-T		not specified	Uncertain significance (Nov 21, 2022)
2-218267541-G-C		not specified	Uncertain significance (Nov 02, 2023)
2-218269445-C-T		not specified	Uncertain significance (Nov 15, 2021)
2-218269498-T-C		not specified	Uncertain significance (Nov 17, 2022)
2-218269515-C-T		not specified	Uncertain significance (Dec 20, 2023)
2-218270029-T-C		not specified	Uncertain significance (Mar 07, 2024)
2-218270043-G-T		not specified	Uncertain significance (Feb 22, 2023)
2-218270044-G-T		not specified	Uncertain significance (Aug 30, 2021)
2-218270141-T-A			Likely benign (Sep 02, 2019)
2-218270142-C-A			Likely benign (Sep 02, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AAMP	protein_coding	protein_coding	ENST00000248450	11	6131

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.762	0.238	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.75	179	258	0.693	0.0000140	2828
Missense in Polyphen		44	87.36	0.50366		951
Synonymous	0.222	103	106	0.973	0.00000612	865
Loss of Function	3.59	4	22.3	0.179	0.00000104	248

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	0.0000463	0.0000462
European (Non-Finnish)	0.0000441	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000416	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway. {ECO:0000269|PubMed:10329261, ECO:0000269|PubMed:18634987}.
• Pathway: Nucleotide-binding Oligomerization Domain (NOD) pathway (Consensus)

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.536
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.496
• hipred: Y
• hipred_score: 0.728
• ghis: 0.568

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.628

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aamp

Gene ontology

• Biological process: angiogenesis;positive regulation of endothelial cell migration;smooth muscle cell migration;cell differentiation;ribosomal large subunit biogenesis
• Cellular component: cytosol;plasma membrane;cell surface;microtubule cytoskeleton;intercellular bridge
• Molecular function: heparin binding;unfolded protein binding