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The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017] See more...
Aliases for CPVL Gene
Aliases for CPVL Gene
External Ids for CPVL Gene
- HGNC: 14399
- Entrez Gene: 54504
- Ensembl: ENSG00000106066
- OMIM: 609780
- UniProtKB: Q9H3G5
Previous GeneCards Identifiers for CPVL Gene
- GC07M028677
- GC07M028743
- GC07M028777
- GC07M028808
- GC07M029001
- GC07M028917
Summaries for CPVL Gene
-
The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017]
GeneCards Summary for CPVL Gene
CPVL (Carboxypeptidase Vitellogenic Like) is a Protein Coding gene. Diseases associated with CPVL include Encephalomalacia and Periventricular Leukomalacia. Gene Ontology (GO) annotations related to this gene include serine-type carboxypeptidase activity. An important paralog of this gene is CTSA.
UniProtKB/Swiss-Prot Summary for CPVL Gene
-
May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.
Additional gene information for CPVL Gene
- HGNC(14399)
- Entrez Gene(54504)
- Ensembl(ENSG00000106066)
- OMIM(609780)
- UniProtKB(Q9H3G5)
- Open Targets Platform(ENSG00000106066)
- Monarch Initiative
- Search for CPVL at DataMed
- Search for CPVL at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPVL Gene
Genomics for CPVL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CPVL 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 CPVL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPVL
- Top Transcription factor binding sites by QIAGEN in the CPVL gene promoter:
-
- AML1a
- C/EBPalpha
- CUTL1
- Evi-1
- HOXA3
- IRF-2
- POU2F1
- POU3F2
- RSRFC4
- S8
Genomic Locations for CPVL Gene
Genomic Locations for CPVL Gene
- chr7:28,994,636-29,195,451
- (GRCh38/hg38)
- Size:
- 200,816 bases
- Orientation:
- Minus strand
- chr7:29,034,847-29,235,067
- (GRCh37/hg19)
- Size:
- 200,221 bases
- Orientation:
- Minus strand
Genomic View for CPVL Gene
Genes around CPVL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p14.3 by HGNC
- 7p14.3 by Entrez Gene
- 7p14.3 by Ensembl
CPVL 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 CPVL Gene
Proteins for CPVL Gene
-
Protein details for CPVL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H3G5-CPVL_HUMAN
- Recommended name:
- Probable serine carboxypeptidase CPVL
- Protein Accession:
- Q9H3G5
- A4D1A4
- Q6UX20
- Q8NBL7
- Q96AR7
- Q9HB41
Protein attributes for CPVL Gene
- Size:
- 476 amino acids
- Molecular mass:
- 54164 Da
- Quaternary structure:
- No Data Available
Protein Expression for CPVL Gene
Selected DME Specific Peptides for CPVL Gene
- Q9H3G5:
-
- NSNLFFW
- PVGTGFS
- TGESYAG
- NLFFWFFPA
Post-translational modifications for CPVL Gene
Other Protein References for CPVL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-CPVL antibody [N1C3]
-
Custom Antibody ServicesOriGene Antibodies for CPVL
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-
Abcam antibodies for CPVL
- Invitrogen Antibodies for CPVL (AFLGC-Cpvl)
-
Biorbyt antibodies for CPVL
-
Santa Cruz Biotechnology (SCBT) Antibodies for CPVL
- Sino Biological Antibodies for CPVL
Protein Products
- G Biosciences Human Probable serine carboxypeptidase CPVL, Liquid
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- Sino Biological Cell Lysates for CPVL
- Sino Biological Recombinant Proteins for CPVL
- antibodies-online: Show 8 available CPVL Proteins ranked by validation data
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-
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Assay Products
- RayBiotech Custom Human CPVL ELISA
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-
Quality Products:
Domains & Families for CPVL Gene
Gene Families for CPVL Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for CPVL Gene
- InterPro:
- Blocks:
-
- Beta and gamma crystallin
- Serine carboxypeptidase (S10)
- ProtoNet:
Suggested Antigen Peptide Sequences for CPVL Gene
- GenScript: Design optimal peptide antigens:
-
- Vitellogenic carboxypeptidase-like protein (CPVL_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H3G5- Family:
-
- Belongs to the peptidase S10 family.
Function for CPVL Gene
Molecular function for CPVL Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.
Enzyme Numbers (IUBMB) for CPVL Gene
Phenotypes From GWAS Catalog for CPVL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004180 | carboxypeptidase activity | IEA | -- |
| GO:0004185 | serine-type carboxypeptidase activity | IEA,IBA | 21873635 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for CPVL Gene
- MGI mutant phenotypes for CPVL:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CPVL:
Animal Model Products
-
Taconic Biosciences Mouse Models for CPVL
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CPVL - Select products 50% OFF >
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-
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for CPVL - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for CPVL
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Cell Line Products
-
Horizon Cell Lines for CPVL
No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CPVL Gene
Localization for CPVL Gene
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| endoplasmic reticulum | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0070062 | extracellular exosome | HDA | 19056867 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CPVL Gene
Pathways & Interactions for CPVL Gene
Interacting Proteins for CPVL Gene
GPS-Prot Interaction Network for CPVL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0051603 | proteolysis involved in cellular protein catabolic process | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CPVL Gene
Drugs & Compounds for CPVL Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human Probable serine carboxypeptidase CPVL, Liquid
Transcripts for CPVL Gene
mRNA/cDNA for CPVL Gene
- 17 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265394 2087 nts (view in UCSC)
- ENST00000396276 1739 nts (view in UCSC)
- ENST00000432534 679 nts (view in UCSC)
- ENST00000455893 561 nts (view in UCSC)
- ENST00000409850 2213 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CPVL - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for CPVL
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for CPVL - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for CPVL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CPVL
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||
| SP4: |
Relevant External Links for CPVL Gene
- GeneLoc Exon Structure for
- CPVL
Expression for CPVL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
- Hematopoietic Bone Marrow
- Inner Cell Mass (Early Embryonic Tissues)
-
Testis (Reproductive System)
- Spermatid Seminiferous Tubules
-
Gonad
- Spermatid Seminiferous Tubules
- Brain (Nervous System)
- Neurons
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for CPVL Gene
This gene is overexpressed in Whole Blood (x8.0), Spleen (x6.0), and Heart - Left Ventricle (x5.6).
This gene is overexpressed in Fetal gut (12.9), Spleen (10.4), and Lymph node (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPVL Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPVL
SOURCE GeneReport for Unigene cluster for CPVL Gene:
Hs.233389mRNA Expression by UniProt/SwissProt for CPVL Gene:
Q9H3G5-CPVL_HUMAN
Tissue specificity:
Expressed in macrophages but not in other leukocytes. Abundantly expressed in heart and kidney. Also expressed in spleen, leukocytes, and placenta.
Evidence on tissue expression from TISSUES for CPVL Gene
- Lung(4.4)
- Liver(4.3)
- Nervous system(3.6)
- Kidney(2.9)
- Spleen(2.7)
- Thyroid gland(2.5)
- Heart(2.4)
- Blood(2.3)
- Muscle(2.2)
- Skin(2.2)
- Lymph node(2.2)
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for CPVL
-
OriGene qPCR primer pairs and template standards for CPVL
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPVL Gene
Orthologs for CPVL Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CPVL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CPVL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CPVL 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cpvl 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cpvl 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CPVL 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CPVL 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CPVL 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cpvl 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22832 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cpvl 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2569 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4572 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007505 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
| PRC1 31 |
|
ManyToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | scpl50 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0215100 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| CSA.11111 31 |
|
ManyToMany |
- Species where no ortholog for CPVL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Chicken (Gallus gallus)
- 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)
- 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)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CPVL Gene
- ENSEMBL:
- Gene Tree for CPVL (if available)
- TreeFam:
- Gene Tree for CPVL (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CPVL: view image
Paralogs for CPVL Gene
Variants for CPVL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPVL Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713575 | Likely Benign: not provided | 29,121,048(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 733777 | Likely Benign: not provided | 28,995,812(-) | C/T | MISSENSE_VARIANT | |
| rs1052200 | - | p.Arg398His | |||
| rs34219043 | - | p.Arg25His | |||
| rs36074676 | - | p.Ser11Leu |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2173744 | CNV | deletion | 18987734 |
| esv2734179 | CNV | deletion | 23290073 |
| esv2734180 | CNV | deletion | 23290073 |
| esv2734181 | CNV | deletion | 23290073 |
| esv3305886 | CNV | mobile element insertion | 20981092 |
| esv3363043 | CNV | insertion | 20981092 |
| esv3424078 | CNV | insertion | 20981092 |
| esv3450095 | CNV | insertion | 20981092 |
| esv3612679 | CNV | loss | 21293372 |
| esv3612685 | CNV | loss | 21293372 |
| esv3612687 | CNV | loss | 21293372 |
| esv3612688 | CNV | loss | 21293372 |
| nsv1137205 | CNV | deletion | 24896259 |
| nsv525084 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.58;
95.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CPVL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPVL Gene
Disorders for CPVL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| encephalomalacia |
|
|
| periventricular leukomalacia |
|
|
| patent ductus arteriosus 1 |
|
|
| perinatal necrotizing enterocolitis |
|
|
| exudative vitreoretinopathy 1 |
|
|
Search CPVL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CPVL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CPVL Gene
Publications for CPVL Gene
- Cloning and characterization of CPVL, a novel serine carboxypeptidase, from human macrophages. (PMID: 11401439) Mahoney JA … McKnight AJ (Genomics 2001) 2 3 4 23
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. (PMID: 20460425) Maeda S … Nakamura Y (Diabetes 2010) 3 41
- A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 41
- Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PMID: 17903298) Meigs JB … Dupuis J (BMC medical genetics 2007) 3 41
ExternalLinks
Products for CPVL Gene
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- Browse Primary Antibodies
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- Taconic Biosciences Mouse Models for CPVL
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- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CPVL (AFLGC-Cpvl)
- VectorBuilder Custom and pre-made DNA vectors for CPVL (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 13 available CPVL Antibodies ranked by validation data
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- antibodies-online: Show 8 available CPVL Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CPVL
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- Biorbyt antibodies for CPVL
Sources for CPVL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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