Aliases for CYBRD1 Gene
Aliases for CYBRD1 Gene
External Ids for CYBRD1 Gene
- HGNC: 20797
- Entrez Gene: 79901
- Ensembl: ENSG00000071967
- OMIM: 605745
- UniProtKB: Q53TN4
Previous GeneCards Identifiers for CYBRD1 Gene
- GC02P172342
- GC02P172581
- GC02P172204
- GC02P172087
- GC02P172378
- GC02P164264
Summaries for CYBRD1 Gene
-
This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYBRD1 Gene
CYBRD1 (Cytochrome B Reductase 1) is a Protein Coding gene. Diseases associated with CYBRD1 include Hemochromatosis and Iron Metabolism Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. GO annotations related to this gene include ferric-chelate reductase activity and oxidoreductase activity, oxidizing metal ions. An important paralog of this gene is CYB561A3.
UniProtKB/Swiss-Prot for CYBRD1 Gene
-
Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYBRD1 Gene
Genomics for CYBRD1 Gene
Regulatory Elements for CYBRD1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02G171521 | 1.1 | ENCODE | 38.6 | +0.8 | 784 | 3.7 | HDGF FOXA2 CREB3L1 AGO1 SIN3A ZNF2 YY1 ZNF766 ZNF207 KLF13 | CYBRD1 DAP3P2 RPS15P4 GC02P171545 |
| GH02G171574 | 1.2 | Ensembl ENCODE | 15.5 | +52.1 | 52077 | 0.6 | HDAC1 ELF3 TBP ATF1 CBX3 RB1 ARID4B NFXL1 ZNF48 RAD21 | CYBRD1 GC02M171563 GC02M171544 |
| GH02G171530 | 1 | Ensembl ENCODE | 16 | +9.2 | 9165 | 2.2 | CTCF CBX3 DDX20 ZMYM3 ZNF2 GATA3 CBX5 RELB FOS ZBTB20 | CYBRD1 GC02P171545 |
| GH02G171346 | 1.4 | Ensembl ENCODE dbSUPER | 11 | -174.7 | -174741 | 2.4 | WRNIP1 RAD21 ZBTB40 GATA2 ZNF366 RELB ETV6 IKZF2 CREM ZNF263 | CYBRD1 GC02M171300 GC02M171375 |
| GH02G171314 | 1.6 | Ensembl ENCODE dbSUPER | 9.3 | -200.8 | -200797 | 14.2 | HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZNF207 FOS ZNF263 SP5 | METTL8 CYBRD1 GC02M171324 GC02M171323 GC02M171318 |
- Transcription factor binding sites by QIAGEN in the CYBRD1 gene promoter:
Regulatory Element Products
Genomic Location for CYBRD1 Gene
- Chromosome:
- 2
- Start:
- 171,522,247 bp from pter
- End:
- 171,558,133 bp from pter
- Size:
- 35,887 bases
- Orientation:
- Plus strand
Genomic View for CYBRD1 Gene
- Cytogenetic band:
-
- 2q31.1 by Ensembl
- 2q31.1 by Entrez Gene
- 2q31.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CYBRD1 Gene
Proteins for CYBRD1 Gene
-
Protein details for CYBRD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q53TN4-CYBR1_HUMAN
- Recommended name:
- Cytochrome b reductase 1
- Protein Accession:
- Q53TN4
- B2RE79
- B4DWD7
- Q6KC16
- Q6KC17
- Q6P147
- Q6ZR51
- Q9H0Q8
- Q9H5G5
Protein attributes for CYBRD1 Gene
- Size:
- 286 amino acids
- Molecular mass:
- 31641 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAG29366.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAG29367.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for CYBRD1 Gene
Post-translational modifications for CYBRD1 Gene
Other Protein References for CYBRD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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Protein Products
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Assay Products
- antibodies-online Kits for CYBRD1: See all 2
No data available for DME Specific Peptides for CYBRD1 Gene
Domains & Families for CYBRD1 Gene
Gene Families for CYBRD1 Gene
- HGNC:
Protein Domains for CYBRD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYBRD1 Gene
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CYBRD1 Gene
Function for CYBRD1 Gene
Molecular function for CYBRD1 Gene
- UniProtKB/Swiss-Prot Function:
- Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells.
- UniProtKB/Swiss-Prot Induction:
- By iron deficiency (at protein level).
Enzyme Numbers (IUBMB) for CYBRD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000293 | ferric-chelate reductase activity | IDA | 14499595 |
| GO:0005515 | protein binding | IPI | 21516116 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016722 | oxidoreductase activity, oxidizing metal ions | TAS | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for CYBRD1 Gene
- MGI mutant phenotypes for CYBRD1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CYBRD1:
Animal Model Products
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-
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miRNA for CYBRD1 Gene
- miRTarBase miRNAs that target CYBRD1
-
- hsa-mir-124-3p (MIRT022211)
- hsa-mir-26b-5p (MIRT028908)
- hsa-mir-21-5p (MIRT030691)
- hsa-mir-301a-3p (MIRT044230)
- hsa-mir-92a-3p (MIRT049718)
- hsa-mir-17-5p (MIRT299336)
- hsa-mir-20a-5p (MIRT299337)
- hsa-mir-93-5p (MIRT299338)
- hsa-mir-106b-5p (MIRT299341)
- hsa-mir-20b-5p (MIRT299348)
- hsa-mir-519d-3p (MIRT299359)
- hsa-mir-4517 (MIRT299369)
- hsa-mir-5583-3p (MIRT299371)
- hsa-mir-4698 (MIRT299381)
- hsa-mir-1231 (MIRT688609)
- hsa-mir-6810-5p (MIRT688610)
- hsa-mir-4652-5p (MIRT688611)
- hsa-mir-3191-3p (MIRT688612)
- hsa-mir-3144-5p (MIRT688613)
- hsa-mir-8052 (MIRT688614)
- hsa-mir-3199 (MIRT688615)
- hsa-mir-4740-5p (MIRT688616)
- hsa-mir-610 (MIRT688617)
- hsa-mir-7155-5p (MIRT688618)
- hsa-mir-637 (MIRT688619)
- hsa-mir-8089 (MIRT688620)
- hsa-mir-4700-5p (MIRT688621)
- hsa-mir-4667-5p (MIRT688622)
- hsa-mir-138-1-3p (MIRT688623)
- hsa-mir-1247-5p (MIRT688624)
- hsa-mir-6729-3p (MIRT688625)
- hsa-mir-556-5p (MIRT688626)
- hsa-mir-7153-5p (MIRT709785)
- hsa-mir-146b-5p (MIRT709787)
- hsa-mir-146a-5p (MIRT709788)
- hsa-mir-4251 (MIRT709789)
- hsa-mir-589-5p (MIRT709790)
- hsa-mir-616-5p (MIRT709791)
- hsa-mir-373-5p (MIRT709792)
- hsa-mir-371b-5p (MIRT709793)
- hsa-mir-186-3p (MIRT709794)
- hsa-mir-8063 (MIRT709795)
miRNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Flow Cytometry Products
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYBRD1 Gene
Localization for CYBRD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYBRD1 Gene
- Membrane; Multi-pass membrane protein.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005765 | lysosomal membrane | IBA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031526 | brush border membrane | IEA | -- |
Pathways & Interactions for CYBRD1 Gene
Pathways by source for CYBRD1 Gene
2 Reactome pathways for CYBRD1 Gene
1 KEGG pathway for CYBRD1 Gene
Interacting Proteins for CYBRD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006879 | cellular iron ion homeostasis | TAS | -- |
| GO:0010039 | response to iron ion | IEA | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for CYBRD1 Gene
Drugs & Compounds for CYBRD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| heme | Pharma | Agonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fe2+ |
|
15438-31-0 |
|
Transcripts for CYBRD1 Gene
mRNA/cDNA for CYBRD1 Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (329) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CYBRD1 Gene
CRISPR Products
-
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-
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miRNA Products
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Inhibitory RNA Products
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-
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- VectorBuilder custom plasmid, inducible vectors for CYBRD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYBRD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||
| SP5: |
Expression for CYBRD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Protoplasmic Astrocyte Cells Neocortex
- Hypothalamus
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
-
Glial Cells
- Protoplasmic Astrocyte Cells Neocortex
- Intestine (Gastrointestinal Tract)
- Dermis (Integumentary System)
- Fibroblasts
- Lung (Respiratory System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Spinal Cord (Nervous System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYBRD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CYBRD1 Gene:
CYBRD1SOURCE GeneReport for Unigene cluster for CYBRD1 Gene:
Hs.221941mRNA Expression by UniProt/SwissProt for CYBRD1 Gene:
Q53TN4-CYBR1_HUMANEvidence on tissue expression from TISSUES for CYBRD1 Gene
- Nervous system(4.8)
- Intestine(4.6)
- Skin(4.3)
- Liver(2.3)
- Thyroid gland(2.2)
- Lung(2.1)
- Gall bladder(2)
- Spleen(2)
Primer Products
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OriGene qPCR primer pairs and template standards for CYBRD1
-
OriGene qPCR primer pairs for CYBRD1
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYBRD1 Gene
Orthologs for CYBRD1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYBRD1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CYBRD1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CYBRD1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cybrd1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cybrd1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CYBRD1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYBRD1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CYBRD1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cybrd1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cybrd1 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005520 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG1275 34 35 |
|
||
| nemy 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | F55H2.5 35 |
|
ManyToMany | |
| F39G3.5 35 |
|
ManyToMany | |||
| F39G3.4 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for CYBRD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
Paralogs for CYBRD1 Gene
(2) SIMAP similar genes for CYBRD1 Gene using alignment to 2 proteins:
Variants for CYBRD1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CYBRD1 Gene
- CYBR1_HUMAN-Q53TN4
- Genetic variations in CYBRD1 may act as modifier of iron overload expression and account for the variance observed in serum ferritin levels in patients with hereditary hemochromatosis.
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000065603 | -- | 171,550,947(+) | ATTTT(C/G)TTTTC | intron-variant | |
| rs1000068065 | -- | 171,532,889(+) | TGTGT(A/G)TGTGT | intron-variant | |
| rs1000245864 | -- | 171,531,541(+) | CTCCC(A/G)GGCCC | intron-variant | |
| rs1000433855 | -- | 171,545,748(+) | ACATA(A/T)GATAT | intron-variant | |
| rs1000472219 | -- | 171,538,321(+) | TTGAG(G/T)CCAGG | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1160884 | CNV | duplication | 26073780 |
Relevant External Links for CYBRD1 Gene
Disorders for CYBRD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemochromatosis |
|
|
| iron metabolism disease |
|
Relevant External Links for CYBRD1
No data available for UniProtKB/Swiss-Prot and Genatlas for CYBRD1 Gene
Publications for CYBRD1 Gene
- Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. (PMID: 15338274) Zaahl M.G. … Robson K.J.H. (Hum. Genet. 2004) 3 4 22 46 64
- A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. (PMID: 19673882) Constantine C.C. … Gurrin L.C. (Br. J. Haematol. 2009) 3 4 46 64
- Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. (PMID: 12949720) Zoller H. … Weiss G. (Gastroenterology 2003) 3 4 22 64
- Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 64
- Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 46 64
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- antibodies-online Antibodies for CYBRD1: See all 25
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- ViGene Biosciences adenoviral particle packaged cDNA for CYBRD1 gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for CYBRD1
- VectorBuilder custom plasmid, inducible vectors for CYBRD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYBRD1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CYBRD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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- (28) RNAdb
- (29) ASD
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- (31) GeneAnnot
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- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
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- (37) SGD
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- (40) Pseudogene
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- (50) eBioscience
- (51) Atlas
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- (53) GenBank
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- (62) NCBI
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- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
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- (78) MOPED
- (79) SPIRE
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- (92) Vector BioLabs
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- (141) ENCODE
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- (143) Horizon
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- (145) IID
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- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




