GeneBe

AIPL1

aryl hydrocarbon receptor interacting protein like 1, the group of FKBP prolyl isomerases

Basic information

Region (hg38): 17:6393693-6435199

Previous symbols: [ "LCA4" ]

Links

ENSG00000129221 ∙ NCBI:23746 ∙ OMIM:604392 ∙ HGNC:359 ∙ Uniprot:Q9NZN9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • Leber congenital amaurosis 4 (Definitive), mode of inheritance: AR
  • Leber congenital amaurosis (Supportive), mode of inheritance: AD
  • Leber congenital amaurosis 4 (Strong), mode of inheritance: AR
  • AIPL1-related retinopathy (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile, AIPL1-related; Cone-rod dystrophy, AIPL1-relatedAD/ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingOphthalmologic10711674; 10615133; 10873396; 21602930; 21900377; 21474771; 22412862

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AIPL1 gene.

  • Leber_congenital_amaurosis_4 (444 variants)
  • not_provided (69 variants)
  • AIPL1-related_retinopathy (50 variants)
  • Inborn_genetic_diseases (48 variants)
  • Retinitis_pigmentosa (38 variants)
  • Retinal_dystrophy (28 variants)
  • AIPL1-related_disorder (24 variants)
  • not_specified (21 variants)
  • Leber_congenital_amaurosis (18 variants)
  • Retinitis_Pigmentosa,_Recessive (15 variants)
  • Retinitis_Pigmentosa,_Dominant (13 variants)
  • Leber_congenital_amaurosis_1 (2 variants)
  • CONE-ROD_DYSTROPHY,_AIPL1-RELATED (2 variants)
  • Juvenile_retinitis_pigmentosa,_AIPL1-related (2 variants)
  • Fraser_syndrome_3 (1 variants)
  • Lissencephaly_due_to_TUBA1A_mutation (1 variants)
  • Cone-rod_dystrophy_2 (1 variants)
  • Abnormality_of_neuronal_migration (1 variants)
  • Abnormality_of_the_eye (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIPL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014336.5. 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.

EffectPLPVUSLBBSum
synonymous
7
clinvar
135
clinvar
2
clinvar
 144
missense
6
clinvar
14
clinvar
173
clinvar
11
clinvar
10
clinvar
 214
nonsense
16
clinvar
2
clinvar
2
clinvar
 20
start loss
2
 2
frameshift
19
clinvar
6
clinvar
3
clinvar
 28
splice donor/acceptor (+/-2bp)
4
clinvar
5
clinvar
1
clinvar
 10
Total 47 27 186 146 12

Highest pathogenic variant AF is 0.000354181

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
AIPL1protein_codingprotein_codingENST00000381129 641507
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.00001220.8381257150331257480.000131
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.07942352380.9860.00001652477
Missense in Polyphen7385.7430.85138931
Synonymous0.3061001040.9620.00000796757
Loss of Function1.371015.90.6308.48e-7159

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.000.00
East Asian0.0003810.000381
Finnish0.00004760.0000462
European (Non-Finnish)0.0001500.000149
Middle Eastern0.0003810.000381
South Asian0.00009810.0000980
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be important in protein trafficking and/or protein folding and stabilization.;
Pathway
Cushing,s syndrome - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.106

Intolerance Scores

loftool
0.0686
rvis_EVS
1.64
rvis_percentile_EVS
96.17

Haploinsufficiency Scores

pHI
0.139
hipred
N
hipred_score
0.292
ghis
0.423

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.959

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Aipl1
Phenotype
vision/eye 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);

Gene ontology

Biological process
retina homeostasis;visual perception;phototransduction, visible light;protein farnesylation;regulation of rhodopsin mediated signaling pathway;negative regulation of apoptotic process
Cellular component
photoreceptor inner segment;nucleus;nucleoplasm;cytoplasm;cytosol
Molecular function
farnesylated protein binding;protein binding;unfolded protein binding