Aliases for CCDC130 Gene
External Ids for CCDC130 Gene
- HGNC: 28118
- Entrez Gene: 81576
- Ensembl: ENSG00000104957
- UniProtKB: P13994
Previous GeneCards Identifiers for CCDC130 Gene
- GC19P013860
- GC19P013430
Summaries for CCDC130 Gene
GeneCards Summary for CCDC130 Gene
CCDC130 (Coiled-Coil Domain Containing 130) is a Protein Coding gene. Diseases associated with CCDC130 include Trench Fever and Phlebotomus Fever. Among its related pathways are Ectoderm Differentiation. An important paralog of this gene is CCDC94.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC130 Gene
Genomics for CCDC130 Gene
Regulatory Elements for CCDC130 Gene
Enhancers for CCDC130 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CCDC130 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CCDC130 gene promoter:
Regulatory Element Products
Genomic Location for CCDC130 Gene
- Chromosome:
- 19
- Start:
- 13,731,760 bp from pter
- End:
- 13,763,296 bp from pter
- Size:
- 31,537 bases
- Orientation:
- Plus strand
Genomic View for CCDC130 Gene
Genes around CCDC130 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.13 by Ensembl
- 19p13.13 by Entrez Gene
- 19p13.13 by HGNC
CCDC130 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 CCDC130 Gene
Proteins for CCDC130 Gene
-
Protein details for CCDC130 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P13994-CC130_HUMAN
- Recommended name:
- Coiled-coil domain-containing protein 130
- Protein Accession:
- P13994
- Q9BQ72
Protein attributes for CCDC130 Gene
- Size:
- 396 amino acids
- Molecular mass:
- 44802 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAA32138.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA32138.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};
Protein Expression for CCDC130 Gene
Post-translational modifications for CCDC130 Gene
Other Protein References for CCDC130 Gene
Antibody Products
- Novus Biologicals Antibodies for CCDC130
- Invitrogen Antibodies for CCDC130
- Search GeneTex for Antibodies for CCDC130
Protein Products
-
OriGene Purified Proteins for CCDC130
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC130
- Origene Custom Protein Services for CCDC130
- Search GeneTex for Proteins for CCDC130
Assay Products
No data available for DME Specific Peptides for CCDC130 Gene
Domains & Families for CCDC130 Gene
Suggested Antigen Peptide Sequences for CCDC130 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P13994- Family:
-
- Belongs to the CWC16 family.
No data available for Gene Families for CCDC130 Gene
Function for CCDC130 Gene
Molecular function for CCDC130 Gene
- UniProtKB/Swiss-Prot Induction:
- By poly(RI), poly(RC) and Newcastle disease virus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for CCDC130 Gene
- GenomeRNAi human phenotypes for CCDC130:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC130
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC130 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC130 gene
- Search ViGene Biosciences for CCDC130
CRISPR Products
-
OriGene CRISPR knockouts for CCDC130
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC130
- GenScript: Design CRISPR guide RNA sequences for CCDC130
miRNA Products
- Search ViGene Biosciences for CCDC130
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC130
- Browse OriGene Inhibitory RNA Products For CCDC130
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC130 gene
Clone Products
-
OriGene ORF clones in human for CCDC130
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC130
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC130
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC130
-
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
-
ViGene Biosciences adenoviral particle packaged cDNA for CCDC130 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC130 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC130 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC130 Gene
Localization for CCDC130 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC130 Gene
Pathways & Interactions for CCDC130 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ectoderm Differentiation | ||
Pathways by source for CCDC130 Gene
1 BioSystems pathway for CCDC130 Gene
Interacting Proteins for CCDC130 Gene
Selected Interacting proteins:
P13994-CC130_HUMAN
ENSP00000221554
for CCDC130 Gene via
IID
STRING
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009615 | response to virus | IEP | 3203696 |
No data available for SIGNOR curated interactions for CCDC130 Gene
Transcripts for CCDC130 Gene
mRNA/cDNA for CCDC130 Gene
- (10) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (304) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CCDC130 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC130
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC130
- GenScript: Design CRISPR guide RNA sequences for CCDC130
miRNA Products
- Search ViGene Biosciences for CCDC130
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC130
- Browse OriGene Inhibitory RNA Products For CCDC130
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC130 gene
Clone Products
-
OriGene ORF clones in human for CCDC130
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC130
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC130
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC130
-
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
Expression for CCDC130 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Pancreas (Endocrine System)
This gene is overexpressed in Placenta (43.1), Blymphocyte (18.6), and CD4 Tcells (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC130 Gene
NURSA nuclear receptor signaling pathways regulating expression of CCDC130 Gene:
CCDC130SOURCE GeneReport for Unigene cluster for CCDC130 Gene:
Hs.24998Evidence on tissue expression from TISSUES for CCDC130 Gene
- Lung(4.3)
- Pancreas(4.3)
- Nervous system(2.6)
- Eye(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for CCDC130
-
OriGene qPCR primer pairs for CCDC130
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC130 Gene
Orthologs for CCDC130 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC130 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CCDC130 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CCDC130 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccdc130 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc130 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CCDC130 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC130 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CCDC130 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccdc130 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3673 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccdc130 34 35 |
|
||
| Dr.18993 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007890 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG15084 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_ZK1307.9 34 |
|
||
| ZK1307.9 35 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YJU2 35 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G25682 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0324300 34 |
|
||
| Os.10889 34 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.2132 34 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.5602 34 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9438 34 |
|
- Species where no ortholog for CCDC130 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Paralogs for CCDC130 Gene
(1) SIMAP similar genes for CCDC130 Gene using alignment to 6 proteins:
Variants for CCDC130 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000024796 | -- | 13,751,981(+) | CATGG(G/T)CACTT | intron-variant | |
| rs1000134359 | -- | 13,757,351(+) | GAGTC(A/G)CAGGT | intron-variant | |
| rs1000190133 | -- | 13,757,155(+) | AAGTC(A/G)CAGCA | intron-variant | |
| rs1000442169 | -- | 13,739,808(+) | ATGTG(C/T)TGTGG | intron-variant | |
| rs1000514000 | -- | 13,746,003(+) | TCCCA(A/G)CACTT | intron-variant, upstream-variant-2KB |
Residual Variation Intolerance Score:
69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.92;
59.46% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CCDC130 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CCDC130
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC130 Gene
Disorders for CCDC130 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| trench fever |
|
|
| phlebotomus fever |
|
|
Search CCDC130 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for CCDC130
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- CCDC130
No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC130 Gene
Publications for CCDC130 Gene
- Alternative mechanisms for gene activation induced by poly(rI).poly(rC) and Newcastle disease virus. (PMID: 3203696) Lammers R. … Collins J. (Eur. J. Biochem. 1988) 2 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
- Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
Products for CCDC130 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
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- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CCDC130
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC130
- Origene Custom Protein Services for CCDC130
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC130
- Browse OriGene Inhibitory RNA Products For CCDC130
- OriGene qPCR primer pairs and template standards for CCDC130
- OriGene qPCR primer pairs for CCDC130
- OriGene CRISPR knockouts for CCDC130
- OriGene ORF clones in human for CCDC130
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CCDC130
- GenScript: Next-day shipping cDNA ORF clone for CCDC130 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CCDC130
- GenScript Custom Assay Services for CCDC130
- GenScript Custom overexpressing Cell Line Services for CCDC130
- GenScript: Design CRISPR guide RNA sequences for CCDC130
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CCDC130
- Sino Biological Human cDNA Clone for CCDC130
- Browse Sino Biological Cell Lysates
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- Sino Biological Antibodies
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- Sino Biological Cell Lysates
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CCDC130
- Novus Biologicals proteins and lysates for CCDC130
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ViGene Biosciences adenoviral particle packaged cDNA for CCDC130 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CCDC130 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CCDC130 gene
- Search ViGene Biosciences for CCDC130
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC130
- VectorBuilder custom plasmid, inducible vectors for CCDC130
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC130
- 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 CCDC130 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
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer