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This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] See more...
Aliases for C19orf12 Gene
Aliases for C19orf12 Gene
External Ids for C19orf12 Gene
- HGNC: 25443
- Entrez Gene: 83636
- Ensembl: ENSG00000131943
- OMIM: 614297
- UniProtKB: Q9NSK7
Previous HGNC Symbols for C19orf12 Gene
- SPG43
Previous GeneCards Identifiers for C19orf12 Gene
- GC00U914320
- GC19M034884
- GC19M034885
- GC19M030189
- GC19M026701
Summaries for C19orf12 Gene
-
This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for C19orf12 Gene
C19orf12 (Chromosome 19 Open Reading Frame 12) is a Protein Coding gene. Diseases associated with C19orf12 include Spastic Paraplegia 43, Autosomal Recessive and Neurodegeneration With Brain Iron Accumulation 4.
Additional gene information for C19orf12 Gene
- HGNC(25443)
- Entrez Gene(83636)
- Ensembl(ENSG00000131943)
- OMIM(614297)
- UniProtKB(Q9NSK7)
- Open Targets Platform(ENSG00000131943)
- Monarch Initiative
- Search for C19orf12 at DataMed
- Search for C19orf12 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C19orf12 Gene
Genomics for C19orf12 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for C19orf12 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 C19orf12 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C19orf12
- Top Transcription factor binding sites by QIAGEN in the C19orf12 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
Genomic Locations for C19orf12 Gene
Genomic Locations for C19orf12 Gene
- chr19:29,698,886-29,715,789
- (GRCh38/hg38)
- Size:
- 16,904 bases
- Orientation:
- Minus strand
- chr19:30,189,793-30,206,452
- (GRCh37/hg19)
- Size:
- 16,660 bases
- Orientation:
- Minus strand
Genomic View for C19orf12 Gene
Genes around C19orf12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q12 by HGNC
- 19q12 by Entrez Gene
- 19q12 by Ensembl
C19orf12 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 C19orf12 Gene
Proteins for C19orf12 Gene
-
Protein details for C19orf12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NSK7-CS012_HUMAN
- Recommended name:
- Protein C19orf12
- Protein Accession:
- Q9NSK7
- B3KQ16
- Q0D2Q0
- Q6P4C5
- Q9BSL7
Protein attributes for C19orf12 Gene
- Size:
- 152 amino acids
- Molecular mass:
- 16286 Da
- Quaternary structure:
- No Data Available
Protein Expression for C19orf12 Gene
Post-translational modifications for C19orf12 Gene
Other Protein References for C19orf12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-C19ORF12 polyclonal antibody
- Novus Biologicals Antibodies for C19orf12
- Invitrogen Antibodies for C19orf12 (AFLGC-C19orf12)
- antibodies-online: Show 6 available C19ORF12 Antibodies ranked by validation data
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-
Boster Bio Antibodies for C19orf12
Protein Products
-
OriGene Purified Proteins for C19orf12
- Search Origene for MassSpec and Protein Over-expression Lysates for C19orf12
- Origene Custom Protein Services for C19orf12
No data available for DME Specific Peptides for C19orf12 Gene
Domains & Families for C19orf12 Gene
Gene Families for C19orf12 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C19orf12 Gene
Function for C19orf12 Gene
Molecular function for C19orf12 Gene
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model.
Phenotypes From GWAS Catalog for C19orf12 Gene
Phenotypes for C19orf12 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for C19orf12 - Select products 50% OFF >
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-
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miRNA for C19orf12 Gene
- miRTarBase miRNAs that target C19orf12
-
- hsa-miR-7-5p (MIRT025866)
- hsa-miR-484 (MIRT042283)
- hsa-miR-1279 (MIRT117718)
- hsa-miR-218-5p (MIRT441072)
- hsa-miR-3177-5p (MIRT525210)
- hsa-miR-511-3p (MIRT525211)
- hsa-miR-1277-5p (MIRT525212)
- hsa-miR-2909 (MIRT549561)
- hsa-miR-3162-5p (MIRT549562)
- hsa-miR-7107-3p (MIRT549563)
- hsa-miR-6753-3p (MIRT549564)
- hsa-miR-6809-5p (MIRT549565)
- hsa-miR-31-5p (MIRT549566)
- hsa-miR-222-3p (MIRT549567)
- hsa-miR-221-3p (MIRT549568)
- hsa-miR-548v (MIRT549569)
- hsa-miR-187-5p (MIRT549570)
- hsa-miR-9500 (MIRT549571)
- hsa-miR-6822-5p (MIRT549572)
- hsa-miR-6750-5p (MIRT549573)
- hsa-miR-5584-5p (MIRT549574)
- hsa-miR-5197-5p (MIRT549575)
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for C19orf12
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C19orf12 Gene
Localization for C19orf12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for C19orf12 Gene
- Mitochondrion. Mitochondrion membrane. Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol. Note=In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria. {ECO:0000269 PubMed:26136767}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| extracellular | 0 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 23857908 |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 23857908 |
| GO:0005829 | cytosol | IEA,IDA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for C19orf12 Gene
Interacting Proteins for C19orf12 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| IKBKG | ||
| APP | ||
| C8orf44-SGK3 | ||
| KIF16B | ||
| PXK |
GPS-Prot Interaction Network for C19orf12
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006914 | autophagy | IMP | 26136767 |
| GO:0006915 | apoptotic process | IMP | 26136767 |
| GO:0006979 | response to oxidative stress | IMP | 26136767 |
| GO:0051560 | mitochondrial calcium ion homeostasis | IMP | 26136767 |
No data available for Pathways by source and SIGNOR curated interactions for C19orf12 Gene
Transcripts for C19orf12 Gene
mRNA/cDNA for C19orf12 Gene
- 7 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323670 4348 nts (view in UCSC)
- ENST00000392276 1912 nts (view in UCSC)
- ENST00000592153 1504 nts (view in UCSC)
- ENST00000392275 1188 nts (view in UCSC)
- ENST00000392278 895 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for C19orf12 - Select products 50% OFF >
- * C19orf12 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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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 C19orf12 - Select products 50% OFF >
- * C19orf12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene ORF clones in human for C19orf12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for C19orf12
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| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | - |
Relevant External Links for C19orf12 Gene
- GeneLoc Exon Structure for
- C19orf12
Expression for C19orf12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
This gene is overexpressed in Bone (11.3), Liver (10.1), and Stomach (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C19orf12 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C19orf12
SOURCE GeneReport for Unigene cluster for C19orf12 Gene:
Hs.529094Evidence on tissue expression from TISSUES for C19orf12 Gene
- Nervous system(4.8)
- Stomach(4.1)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for C19orf12 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Thorax:
- scapula
Limb:
- ankle
- arm
- foot
- forearm
- hand
- knee
- lower limb
- shin
- thigh
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for C19orf12
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C19orf12 Gene
Orthologs for C19orf12 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C19H19orf12 30 |
|
||
| C19orf12 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
| C18H19orf12 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | C1H19orf12 30 |
|
||
| C19orf12 31 |
|
OneToOne | |||
| Rat (Rattus norvegicus) |
Mammalia | LOC690000 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | 1600014C10Rik 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | C19orf12 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | C19orf12 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C11H19ORF12 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c19orf12 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | C18H19orf12 (1 of 3) 31 |
|
OneToMany | |
| LOC100537173 30 |
|
||||
| C7H19orf12 (3 of 3) 31 |
|
OneToMany | |||
| C7H19orf12 (2 of 3) 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4992 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000432 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG3740 30 31 |
|
OneToMany | |
| CG11671 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1208 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany |
- Species where no ortholog for C19orf12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rice (Oryza sativa)
- 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)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Paralogs for C19orf12 Gene
No data available for Paralogs for C19orf12 Gene
Variants for C19orf12 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C19orf12 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636274 | Pathogenic: Neurodegeneration with brain iron accumulation 4 | 29,702,904(-) | CAT/C | FRAMESHIFT_VARIANT | |
| 636275 | Pathogenic: Neurodegeneration with brain iron accumulation 4 | 29,702,933(-) | GTCCACTTGTCA/G | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
| 642357 | Uncertain Significance: Spastic paraplegia 43, autosomal recessive | 29,714,902(-) | C/T | INTRON_VARIANT | |
| 661004 | Uncertain Significance: Spastic paraplegia 43, autosomal recessive | 29,702,861(-) | C/T | MISSENSE_VARIANT | |
| 676100 | Benign: not provided | 29,708,147(-) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1061174 | CNV | gain | 25217958 |
| nsv1061604 | CNV | loss | 25217958 |
Residual Variation Intolerance Score:
62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.32;
41.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for C19orf12 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf12 Gene
Disorders for C19orf12 Gene
(29) MalaCards diseases for C19orf12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 43, autosomal recessive |
|
|
| neurodegeneration with brain iron accumulation 4 |
|
|
| tremor |
|
|
| dystonia |
|
|
| hereditary spastic paraplegia |
|
|
Search C19orf12 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CS012_HUMAN- Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. {ECO:0000269 PubMed:21981780, ECO:0000269 PubMed:22508347, ECO:0000269 PubMed:22584950, ECO:0000269 PubMed:22704260, ECO:0000269 PubMed:23269600, ECO:0000269 PubMed:23278385, ECO:0000269 PubMed:23521069, ECO:0000269 PubMed:23857908, ECO:0000269 PubMed:25592411, ECO:0000269 PubMed:26136767, ECO:0000269 PubMed:26187298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. {ECO:0000269 PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for C19orf12
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for C19orf12 Gene
Publications for C19orf12 Gene
- Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺. (PMID: 26136767) Venco P … Tiranti V (Frontiers in genetics 2015) 2 3 4
- Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. (PMID: 23857908) Landouré G … Burnett BG (Human mutation 2013) 2 3 4
- Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (PMID: 21981780) Hartig MB … Prokisch H (American journal of human genetics 2011) 2 3 4
- Behr syndrome with homozygous C19ORF12 mutation. (PMID: 26187298) Kleffner I … Husstedt IW (Journal of the neurological sciences 2015) 3 4
- New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. (PMID: 23269600) Hogarth P … Hayflick SJ (Neurology 2013) 3 4
ExternalLinks
Products for C19orf12 Gene
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Sources for C19orf12 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
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- (33) SGD
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- (39) GenAtlas
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- (44) Atlas
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- (50) miRBase
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- (55) TGDB
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- (64) Proteopedia
- (65) MOPED
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
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- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
- (78) RefSeq
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- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
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- (93) PathCards
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- (95) GeneTex
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- (97) GTEx
- (98) ProteomicsDB
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- (136) Human Protein Atlas
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- (139) DataMed
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- (143) Applied Biosystems
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- (148) RNACentral
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- (160) Synthego
- (161) ENA
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- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
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- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
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- (178) MirGeneDB