APLP1

amyloid beta precursor like protein 1

Basic information

Region (hg38): 19:35867899-35879803

Links

ENSG00000105290

∙ NCBI:333 ∙ OMIM:104775 ∙ HGNC:597 ∙ Uniprot:P51693 ∙ 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 APLP1 gene.

not_specified (81 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APLP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001024807.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			77 clinvar	4 clinvar		81
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	4	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APLP1	protein_coding	protein_coding	ENST00000221891	17	11893

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.122	0.878	125724	0	23	125747	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	324	392	0.828	0.0000246	4157
Missense in Polyphen		137	179.06	0.76512		1941
Synonymous	-1.17	177	158	1.12	0.0000101	1348
Loss of Function	4.17	9	36.0	0.250	0.00000188	374

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000262	0.000262
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000799	0.0000791
Middle Eastern	0.000109	0.000109
South Asian	0.0000655	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I. {ECO:0000250}.;

Recessive Scores

pRec: 0.617

Intolerance Scores

loftool: 0.0546
rvis_EVS: -0.68
rvis_percentile_EVS: 15.36

Haploinsufficiency Scores

pHI: 0.334
hipred: Y
hipred_score: 0.597
ghis: 0.540

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.760

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Aplp1
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); growth/size/body region phenotype;

Gene ontology

Biological process: endocytosis;apoptotic process;cell adhesion;nervous system development;animal organ morphogenesis;cellular response to norepinephrine stimulus;negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
Cellular component: basement membrane;plasma membrane;integral component of membrane;perinuclear region of cytoplasm
Molecular function: protein binding;heparin binding;alpha-2A adrenergic receptor binding;alpha-2B adrenergic receptor binding;alpha-2C adrenergic receptor binding;identical protein binding;transition metal ion binding