Aliases for CCDC130 Gene
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 YJU2.
Additional gene information for CCDC130 Gene
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
GeneHancer (GH) Regulatory Elements for CCDC130 Gene
Promoters and enhancers for CCDC130 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CCDC130 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CCDC130 Gene
Genomic Locations for CCDC130 Gene
- chr19:13,731,760-13,763,296
- (GRCh38/hg38)
- Size:
- 31,537 bases
- Orientation:
- Plus strand
- chr19:13,842,574-13,874,110
- (GRCh37/hg19)
Genomic View for CCDC130 Gene
Genes around CCDC130 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.13 by Entrez Gene
- 19p13.13 by HGNC
- 19p13.13 by Ensembl
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
Gene Families for CCDC130 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
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.
Function for CCDC130 Gene
Molecular function for CCDC130 Gene
- UniProtKB/Swiss-Prot Induction:
- By poly(RI), poly(RC) and Newcastle disease virus.
Phenotypes From GWAS Catalog for CCDC130 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for CCDC130 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC130
-
CRISPR Products
-
OriGene CRISPR knockouts for CCDC130
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC130
- genomics-online: gRNA clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- Applied Biological Materials CRISPR for CCDC130
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC130
- GenScript: Design CRISPR guide RNA sequences for CCDC130
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC130
- Browse OriGene Inhibitory RNA Products For CCDC130
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC130
- genomics-online: shRNA clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
Clone Products
- Sino Biological Human cDNA Clone 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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC130
- Applied Biological Materials Clones for CCDC130
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
- Vesicles (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
UniProtKB
STRING
MINT
GPS-Prot Interaction Network for CCDC130
| 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
- (304) Selected AceView cDNA sequences:
- (5) Additional mRNA sequences :
- (10) REFSEQ mRNAs :
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000221554 1792 bps (uc002mxc.2)
- ENST00000540216 995 bps (uc010xnf.3)
- ENST00000585844 887 bps (uc060ujb.1)
- ENST00000586600 1922 bps (uc060uit.1)
- ENST00000586666 914 bps (uc060uix.1)
Unigene Clusters for CCDC130 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC130
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC130
- genomics-online: gRNA clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- Applied Biological Materials CRISPR for CCDC130
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC130
- GenScript: Design CRISPR guide RNA sequences for CCDC130
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC130
- Browse OriGene Inhibitory RNA Products For CCDC130
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC130
- genomics-online: shRNA clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
Clone Products
- Sino Biological Human cDNA Clone 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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC130
- Applied Biological Materials Clones for CCDC130
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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, 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
Gene Expression Assay Products
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 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CCDC130 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CCDC130 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ccdc130 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc130 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CCDC130 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC130 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CCDC130 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccdc130 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3673 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccdc130 34 33 |
|
OneToOne | |
| Dr.18993 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007890 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG15084 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | CELE_ZK1307.9 33 |
|
||
| ZK1307.9 34 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YJU2 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G25682 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0324300 33 |
|
||
| Os.10889 33 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.5602 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.2132 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.9438 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9438 33 |
|
- 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)
Evolution for CCDC130 Gene
- ENSEMBL:
- Gene Tree for CCDC130 (if available)
- TreeFam:
- Gene Tree for CCDC130 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CCDC130: view image
Paralogs for CCDC130 Gene
Variants for CCDC130 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000024796 | -- | 13,751,981(+) | G/T | intron_variant | |
| rs1000134359 | -- | 13,757,351(+) | G/A | intron_variant | |
| rs1000190133 | -- | 13,757,155(+) | G/A | intron_variant | |
| rs1000442169 | -- | 13,739,808(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000514000 | -- | 13,746,003(+) | G/A | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
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)
Additional Variant Information for CCDC130 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CCDC130
SNP Genotyping and Copy Number Assay Products
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
Additional Disease Information for 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 (European journal of biochemistry 1988) 2 3 4 58
- 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 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
Products for CCDC130 Gene
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- OriGene Purified Proteins for CCDC130
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals
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- Browse Antibodies
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- 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
- Search GeneTex for Antibodies for CCDC130
- Search GeneTex for Proteins for CCDC130
- genomics-online: cdna clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- orf clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- genomics-online: gRNA clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- genomics-online: primer clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- genomics-online: shRNA clones - Search results for 110 available CCDC130 gene related products
- Overview of 110 available CCDC130 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC130
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC130
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC130
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio