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This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] See more...
Aliases for AOPEP Gene
Aliases for AOPEP Gene
External Ids for AOPEP Gene
- HGNC: 1361
- Entrez Gene: 84909
- Ensembl: ENSG00000148120
- UniProtKB: Q8N6M6
Previous HGNC Symbols for AOPEP Gene
- C9orf3
Summaries for AOPEP Gene
-
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
GeneCards Summary for AOPEP Gene
AOPEP (Aminopeptidase O (Putative)) is a Protein Coding gene. Diseases associated with AOPEP include Fanconi Anemia, Complementation Group C and Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are Peptide hormone metabolism and Hepatitis C and Hepatocellular Carcinoma. An important paralog of this gene is RNPEP.
UniProtKB/Swiss-Prot Summary for AOPEP Gene
-
Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.
Additional gene information for AOPEP Gene
- HGNC(1361)
- Entrez Gene(84909)
- Ensembl(ENSG00000148120)
- UniProtKB(Q8N6M6)
- Open Targets Platform(ENSG00000148120)
- Monarch Initiative
- Search for AOPEP at DataMed
- Search for AOPEP at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AOPEP Gene
Genomics for AOPEP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AOPEP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AOPEP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AOPEP
Genomic Locations for AOPEP Gene
Genomic Locations for AOPEP Gene
- chr9:94,726,669-95,148,264
- (GRCh38/hg38)
- Size:
- 421,596 bases
- Orientation:
- Plus strand
- chr9:97,488,951-97,849,500
- (GRCh37/hg19)
- Size:
- 360,550 bases
- Orientation:
- Plus strand
Genomic View for AOPEP Gene
Genes around AOPEP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q22.32 by HGNC
- 9q22.32 by Entrez Gene
- 9q22.32 by Ensembl
AOPEP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AOPEP Gene
Proteins for AOPEP Gene
-
Protein details for AOPEP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N6M6-AMPO_HUMAN
- Recommended name:
- Aminopeptidase O
- Protein Accession:
- Q8N6M6
- Q5T9B1
- Q5T9B3
- Q5T9B4
- Q8WUL6
- Q96M23
- Q96SS1
Protein attributes for AOPEP Gene
- Size:
- 819 amino acids
- Molecular mass:
- 93572 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH20194.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55210.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Post-translational modifications for AOPEP Gene
Other Protein References for AOPEP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005252341.1
- XP_006717369.1
- XP_011517421.1
- XP_011517422.1
- XP_011517423.1
- XP_011517424.1
- XP_011517425.1
- XP_011517429.1
- XP_011517431.1
- XP_011517432.1
- XP_011517434.1
- XP_011517436.1
- XP_016870718.1
- XP_016870719.1
- XP_016870720.1
- XP_016870721.1
- XP_016870722.1
- XP_016870723.1
- XP_016870724.1
- XP_016870725.1
- XP_016870726.1
- NP_001180258.1
- NP_001180260.1
- NP_116212.3
Antibody Products
- Novus Biologicals Antibodies for AOPEP
-
Abcam antibodies for AOPEP
- Invitrogen Antibodies for AOPEP (AFLGC-AOPEP)
-
Boster Bio Antibodies for AOPEP
- Sino Biological Antibodies for AOPEP
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AOPEP
- Origene Custom Protein Services for AOPEP
- antibodies-online: Show 4 available C9orf3 Proteins ranked by validation data
- Compare Top C9orf3 Proteins
-
Quality Products:
-
Signalway Proteins for AOPEP
-
Abcam proteins for AOPEP
Assay Products
- RayBiotech Custom Human Aminopeptidase O ELISA
- antibodies-online: Show 21 available C9orf3 Elisa Kits ranked by validation data
- Compare Top C9orf3 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for AOPEP
No data available for DME Specific Peptides for AOPEP Gene
Domains & Families for AOPEP Gene
Gene Families for AOPEP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for AOPEP Gene
- InterPro:
- Blocks:
-
- Membrane alanyl dipeptidase (M1) family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for AOPEP Gene
- GenScript: Design optimal peptide antigens:
-
- Aminopeptidase O (AMPO_HUMAN)
- cDNA FLJ55832, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DKT1_HUMAN)
- cDNA FLJ52730, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DQU3_HUMAN)
- cDNA FLJ52757, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DU39_HUMAN)
- Chromosome 9 open reading frame 3 (Q5JTU2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8N6M6- Family:
-
- Belongs to the peptidase M1 family.
Function for AOPEP Gene
Molecular function for AOPEP Gene
- UniProtKB/Swiss-Prot Function:
- Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=6 uM for Arg-AMC {ECO:0000305|PubMed:15687497};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Strongly inhibited by ophenanthroline, a metalloprotease inhibitor. Inhibited by arphamenine A, a potent inhibitor of aminopeptidases. Not affected by AEBSF and E-64, which are common inhibitors of serine- and cysteine-proteases, respectively.
Enzyme Numbers (IUBMB) for AOPEP Gene
Phenotypes From GWAS Catalog for AOPEP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004177 | aminopeptidase activity | IEA | -- |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for AOPEP Gene
- MGI mutant phenotypes for AOPEP:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AOPEP:
Animal Models for AOPEP Gene
- MGI Knock Outs for AOPEP:
-
- Aopep Aopep<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AOPEP - Select products 50% OFF >
- * AOPEP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AOPEP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
miRNA for AOPEP Gene
- miRTarBase miRNAs that target AOPEP
-
- hsa-miR-218-5p (MIRT441032)
- hsa-miR-6820-5p (MIRT490229)
- hsa-miR-6722-3p (MIRT490230)
- hsa-miR-1909-3p (MIRT490231)
- hsa-miR-6087 (MIRT490232)
- hsa-miR-761 (MIRT490233)
- hsa-miR-3619-5p (MIRT490234)
- hsa-miR-214-3p (MIRT490235)
- hsa-miR-6510-5p (MIRT490236)
- hsa-miR-6089 (MIRT499913)
- hsa-miR-6856-5p (MIRT499914)
- hsa-miR-6758-5p (MIRT499915)
- hsa-miR-518f-3p (MIRT499916)
- hsa-miR-518c-3p (MIRT499917)
- hsa-miR-518d-3p (MIRT499918)
- hsa-miR-518b (MIRT499919)
- hsa-miR-518a-3p (MIRT499920)
- hsa-miR-6849-3p (MIRT518218)
- hsa-miR-4293 (MIRT518220)
- hsa-miR-6771-3p (MIRT518221)
- hsa-miR-3180-5p (MIRT530897)
- hsa-miR-2355-5p (MIRT530898)
- hsa-miR-1236-3p (MIRT530899)
- hsa-miR-6893-3p (MIRT530900)
- hsa-miR-370-3p (MIRT530901)
- hsa-miR-4793-5p (MIRT530902)
- hsa-miR-510-5p (MIRT530903)
- hsa-miR-4786-5p (MIRT542241)
- hsa-miR-6848-3p (MIRT672317)
- hsa-miR-6843-3p (MIRT672318)
- hsa-miR-640 (MIRT672319)
- hsa-miR-378a-5p (MIRT672320)
- hsa-miR-1193 (MIRT672321)
- hsa-miR-6821-3p (MIRT672322)
- hsa-miR-6790-3p (MIRT672323)
- hsa-miR-1976 (MIRT672324)
- hsa-miR-3653-5p (MIRT672325)
- hsa-miR-7107-5p (MIRT672326)
- hsa-miR-1234-3p (MIRT672327)
- hsa-miR-1224-3p (MIRT672328)
- hsa-miR-2392 (MIRT672329)
- hsa-miR-1306-5p (MIRT762453)
- hsa-miR-1343-3p (MIRT762563)
- hsa-miR-23a-5p (MIRT764015)
- hsa-miR-23b-5p (MIRT764033)
- hsa-miR-4264 (MIRT768210)
- hsa-miR-4279 (MIRT768291)
- hsa-miR-4722-3p (MIRT771459)
- hsa-miR-4740-3p (MIRT771852)
- hsa-miR-498 (MIRT772817)
- hsa-miR-622 (MIRT776074)
- hsa-miR-660-3p (MIRT777385)
- hsa-miR-6727-3p (MIRT777861)
- hsa-miR-6742-3p (MIRT778126)
- hsa-miR-6747-3p (MIRT778250)
- hsa-miR-6783-3p (MIRT779067)
- hsa-miR-6852-5p (MIRT780453)
- hsa-miR-939-3p (MIRT782787)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
Clone Products
- Applied Biological Materials (abm): Clones for AOPEP - Select products 50% OFF >
- * AOPEP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215648
- MR215648
- MR215648L3
- MR215648L4
- MR231218
- MR231219
- RC202214
- RC202214L1
- RC202214L2
- RC202214L3
- RC202214L4
- RC231317
- RC231317L3
- RC231317L4
- RC231419
- RC231419L3
- RC231419L4
- RG202214
- RG231317
- RG231419
- MR215648L3V
- MR215648L4V
- RC202214L1V
- RC202214L2V
- RC202214L3V
- RC202214L4V
- RC231317L3V
- RC231317L4V
- RC231419L3V
- RC231419L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
Cell Line Products
-
Horizon Cell Lines for AOPEP
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AOPEP Gene
Localization for AOPEP Gene
Subcellular locations from UniProtKB/Swiss-Prot for AOPEP Gene
- Nucleus, nucleolus.
- [Isoform 3]: Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cell Junctions (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005730 | nucleolus | IBA,ISS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for AOPEP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide hormone metabolism | ||
| 2 | Metabolism of proteins | ||
| 3 | Hepatitis C and Hepatocellular Carcinoma | ||
Pathways by source for AOPEP Gene
1 BioSystems pathway for AOPEP Gene
3 Reactome pathways for AOPEP Gene
Interacting Proteins for AOPEP Gene
GPS-Prot Interaction Network for AOPEP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002003 | angiotensin maturation | TAS | -- |
| GO:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for AOPEP Gene
Drugs & Compounds for AOPEP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| angiotensin III | Pharma | Agonist, Full agonist | 0 |
Transcripts for AOPEP Gene
mRNA/cDNA for AOPEP Gene
- 4 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000277198 1966 nts (view in UCSC)
- ENST00000297979 2820 nts (view in UCSC)
- ENST00000427193 704 nts (view in UCSC)
- ENST00000489318 682 nts (view in UCSC)
- ENST00000424143 1605 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AOPEP - Select products 50% OFF >
- * AOPEP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AOPEP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
Clone Products
- Applied Biological Materials (abm): Clones for AOPEP - Select products 50% OFF >
- * AOPEP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215648
- MR215648
- MR215648L3
- MR215648L4
- MR231218
- MR231219
- RC202214
- RC202214L1
- RC202214L2
- RC202214L3
- RC202214L4
- RC231317
- RC231317L3
- RC231317L4
- RC231419
- RC231419L3
- RC231419L4
- RG202214
- RG231317
- RG231419
- MR215648L3V
- MR215648L4V
- RC202214L1V
- RC202214L2V
- RC202214L3V
- RC202214L4V
- RC231317L3V
- RC231317L4V
- RC231419L3V
- RC231419L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
Relevant External Links for AOPEP Gene
- GeneLoc Exon Structure for
- AOPEP
Expression for AOPEP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AOPEP
SOURCE GeneReport for Unigene cluster for AOPEP Gene:
Hs.434253mRNA Expression by UniProt/SwissProt for AOPEP Gene:
Q8N6M6-AMPO_HUMAN
Tissue specificity:
Predominantly expressed in pancreas, placenta, liver, testis and heart. Expressed at lower level in brain, lung and kidney.
Evidence on tissue expression from TISSUES for AOPEP Gene
- Muscle(4.5)
- Nervous system(4.4)
- Lung(4.4)
- Heart(2.8)
- Skin(2.5)
- Liver(2)
- Kidney(2)
Primer Products
-
OriGene qPCR primer pairs for AOPEP
-
OriGene qPCR primer pairs and template standards for AOPEP
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AOPEP Gene
Orthologs for AOPEP Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C9H9orf3 30 |
|
||
| C9orf3 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | C8H9orf3 30 |
|
||
| C9orf3 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | C1H9orf3 30 |
|
||
| C9orf3 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | 2010111I01Rik 30 31 |
|
OneToOne | |
| Aopep 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Npepo 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | C9orf3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | CZH9ORF3 30 |
|
||
| C9orf3 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | C9orf3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c9orf3 30 |
|
||
| Str.19490 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68599 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:162939 30 |
|
||
| C8H9orf3 31 |
|
OneToOne | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAP2 31 |
|
OneToMany |
- Species where no ortholog for AOPEP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Paralogs for AOPEP Gene
Variants for AOPEP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AOPEP Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641917 | Uncertain Significance: Hereditary cancer-predisposing syndrome; Fanconi anemia | 95,107,211(+) | G/A | MISSENSE_VARIANT | |
| 643933 | Uncertain Significance: Fanconi anemia | 95,117,381(+) | C/A | MISSENSE_VARIANT | |
| 644730 | Uncertain Significance: Fanconi anemia | 95,125,185(+) | C/A | MISSENSE_VARIANT | |
| 648819 | Uncertain Significance: Fanconi anemia | 95,135,351(+) | A/G | MISSENSE_VARIANT | |
| 649717 | Pathogenic: Fanconi anemia; Fanconi anemia, complementation group A | 95,111,534(+) | TG/T | FRAMESHIFT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2168e212 | CNV | loss | 25503493 |
| esv2764145 | CNV | loss | 21179565 |
| esv3307403 | CNV | mobile element insertion | 20981092 |
| esv3310318 | CNV | mobile element insertion | 20981092 |
| esv3328162 | CNV | insertion | 20981092 |
| esv3358674 | CNV | insertion | 20981092 |
| esv3368410 | CNV | insertion | 20981092 |
| esv3621113 | CNV | gain | 21293372 |
| esv3621137 | CNV | loss | 21293372 |
| esv3621138 | CNV | loss | 21293372 |
| esv3621139 | CNV | gain | 21293372 |
| esv3621140 | CNV | loss | 21293372 |
| esv3621141 | CNV | loss | 21293372 |
| esv3621144 | CNV | loss | 21293372 |
| esv8177 | CNV | gain | 19470904 |
| esv8735 | CNV | gain | 19470904 |
| nsv1038106 | CNV | gain | 25217958 |
| nsv1041922 | CNV | gain | 25217958 |
| nsv1045849 | CNV | loss | 25217958 |
| nsv1075255 | CNV | deletion | 25765185 |
| nsv1144283 | CNV | deletion | 24896259 |
| nsv1147999 | OTHER | inversion | 26484159 |
| nsv473369 | CNV | novel sequence insertion | 20440878 |
| nsv479050 | CNV | novel sequence insertion | 20440878 |
| nsv831656 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.41;
71.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AOPEP Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AOPEP
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AOPEP Gene
Disorders for AOPEP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group c |
|
|
| fructose-1,6-bisphosphatase deficiency |
|
|
| fanconi anemia, complementation group a |
|
|
Search AOPEP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AOPEP
No data available for UniProtKB/Swiss-Prot and Genatlas for AOPEP Gene
Publications for AOPEP Gene
- Identification of human aminopeptidase O, a novel metalloprotease with structural similarity to aminopeptidase B and leukotriene A4 hydrolase. (PMID: 15687497) Díaz-Perales A … López-Otín C (The Journal of biological chemistry 2005) 2 4 23
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
ExternalLinks
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Sources for AOPEP Gene
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