Aliases for CCDC140 Gene
Aliases for CCDC140 Gene
External Ids for CCDC140 Gene
- HGNC: 26514
- Entrez Gene: 151278
- Ensembl: ENSG00000163081
- UniProtKB: Q96MF4
Previous GeneCards Identifiers for CCDC140 Gene
- GC02P222872
- GC02P223162
- GC02P215016
Summaries for CCDC140 Gene
-
This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011]
GeneCards Summary for CCDC140 Gene
CCDC140 (Coiled-Coil Domain Containing 140) is a Protein Coding gene. Diseases associated with CCDC140 include Craniofacial-Deafness-Hand Syndrome and Waardenburg Syndrome, Type 1.
Additional gene information for CCDC140 Gene
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC140 Gene
Genomics for CCDC140 Gene
GeneHancer (GH) Regulatory Elements for CCDC140 Gene
Promoters and enhancers for CCDC140 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02J222293 | Promoter/Enhancer | 1.3 | EPDnew ENCODE | 650.7 | -1.2 | -1201 | 5.9 | ZSCAN4 ZNF48 ZNF335 GLIS2 ZNF366 SCRT2 SP3 ZBTB11 ZNF398 GLIS1 | CCDC140 PAX3 GC02P222238 | |
| GH02J222289 | Enhancer | 0.9 | FANTOM5 ENCODE | 4.2 | -7.1 | -7121 | 3.4 | CTCF USF1 ZNF189 SUZ12 SIN3A OSR2 SP1 CBX8 POLR2A CTBP2 | PAX3 CCDC140 GC02P222238 | |
| GH02J222795 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE | 1.3 | +498.5 | 498458 | 3.1 | PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 FOS SP5 NFYC | SGPP2 CCDC140 LOC105373903 ACSL3 | |
| GH02J222301 | Enhancer | 0.4 | ENCODE | 0.7 | +2.9 | 2930 | 0.2 | SUZ12 EZH2 | FARSB CCDC140 LOC440934 PAX3 | |
| GH02J222269 | Enhancer | 0.8 | UCNEbase ENCODE | 0.3 | -28.9 | -28901 | 0.3 | NANOG HLF EZH2 | CCDC140 GC02P222238 PAX3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CCDC140 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CCDC140 gene promoter:
-
- AP-2alpha
- AP-2alpha isoform 3
- AP-2alpha isoform 2
- AP-2alphaA
Regulatory Element Products
Genomic Locations for CCDC140 Gene
Genomic Locations for CCDC140 Gene
- chr2:222,298,147-222,305,217
- (GRCh38/hg38)
- Size:
- 7,071 bases
- Orientation:
- Plus strand
- chr2:223,162,866-223,169,936
- (GRCh37/hg19)
- Size:
- 7,071 bases
- Orientation:
- Plus strand
Genomic View for CCDC140 Gene
Genes around CCDC140 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q36.1 by Entrez Gene
- 2q36.1 by HGNC
- 2q36.1 by Ensembl
CCDC140 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 CCDC140 Gene
Proteins for CCDC140 Gene
-
Protein details for CCDC140 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96MF4-CC140_HUMAN
- Recommended name:
- Coiled-coil domain-containing protein 140
- Protein Accession:
- Q96MF4
Protein attributes for CCDC140 Gene
- Size:
- 163 amino acids
- Molecular mass:
- 18252 Da
- Quaternary structure:
- No Data Available
Protein Expression for CCDC140 Gene
Post-translational modifications for CCDC140 Gene
Other Protein References for CCDC140 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCDC140
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- Invitrogen Antibodies for CCDC140
- Search GeneTex for Antibodies for CCDC140
-
Biorbyt antibodies for CCDC140
Protein Products
-
OriGene Purified Proteins for CCDC140
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- Novus Biologicals proteins for CCDC140
- Search GeneTex for Proteins for CCDC140
Assay Products
No data available for DME Specific Peptides for CCDC140 Gene
Domains & Families for CCDC140 Gene
Gene Families for CCDC140 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CCDC140 Gene
- ProtoNet:
Suggested Antigen Peptide Sequences for CCDC140 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CCDC140 Gene
Function for CCDC140 Gene
Phenotypes From GWAS Catalog for CCDC140 Gene
Phenotypes for CCDC140 Gene
- GenomeRNAi human phenotypes for CCDC140:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for CCDC140
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- genomics-online: gRNA clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
- Applied Biological Materials CRISPR for CCDC140
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC140
- GenScript: Design CRISPR guide RNA sequences for CCDC140
miRNA for CCDC140 Gene
- miRTarBase miRNAs that target CCDC140
-
- hsa-mir-5706 (MIRT531083)
- hsa-mir-4782-5p (MIRT531084)
- hsa-mir-516b-5p (MIRT531085)
- hsa-mir-1299 (MIRT531086)
- hsa-mir-519e-5p (MIRT531087)
- hsa-mir-515-5p (MIRT531088)
- hsa-mir-152-5p (MIRT531089)
- hsa-mir-103a-2-5p (MIRT531090)
- hsa-mir-6839-5p (MIRT531091)
- hsa-mir-378j (MIRT531092)
- hsa-mir-5695 (MIRT531093)
- hsa-mir-519d-5p (MIRT531094)
- hsa-mir-136-5p (MIRT648550)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC140
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- genomics-online: shRNA clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CCDC140
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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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC140
- Applied Biological Materials Clones for CCDC140
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CCDC140
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC140 Gene
Localization for CCDC140 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCDC140 Gene
Transcripts for CCDC140 Gene
mRNA/cDNA for CCDC140 Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (2) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000295226 1699 bps (uc002vnb.1)
- ENST00000440903 441 bps (uc061tbi.1)
Unigene Clusters for CCDC140 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC140
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC140
- genomics-online: gRNA clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
- Applied Biological Materials CRISPR for CCDC140
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC140
- GenScript: Design CRISPR guide RNA sequences for CCDC140
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC140
- Browse OriGene Inhibitory RNA Products For CCDC140
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC140
- genomics-online: shRNA clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CCDC140
- VectorBuilder custom plasmid, inducible vectors for CCDC140
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC140
-
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 CCDC140
- Applied Biological Materials Clones for CCDC140
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CCDC140 Gene
mRNA differential expression in normal tissues according to GTEx for CCDC140 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.4), Minor Salivary Gland (x7.4), Muscle - Skeletal (x6.8), and Brain - Cerebellum (x5.6).
This gene is overexpressed in Platelet (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC140 Gene
NURSA nuclear receptor signaling pathways regulating expression of CCDC140 Gene:
CCDC140SOURCE GeneReport for Unigene cluster for CCDC140 Gene:
Hs.350729Primer Products
-
OriGene qPCR primer pairs and template standards for CCDC140
-
OriGene qPCR primer pairs for CCDC140
- genomics-online: primer clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC140 Gene
Orthologs for CCDC140 Gene
This gene was present in the common ancestor of human and chimp.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC140 34 33 |
|
OneToOne |
- Species where no ortholog for CCDC140 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- mouse (Mus musculus)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for CCDC140 Gene
- ENSEMBL:
- Gene Tree for CCDC140 (if available)
- TreeFam:
- Gene Tree for CCDC140 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CCDC140: view image
Paralogs for CCDC140 Gene
No data available for Paralogs for CCDC140 Gene
Variants for CCDC140 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104893650 | pathogenic, Waardenburg syndrome type 1 | 222,297,150(+) | G/A | upstream_transcript_variant | |
| rs104893651 | pathogenic, Klein-Waardenberg's syndrome, Waardenburg syndrome type 1 | 222,297,048(+) | G/A | upstream_transcript_variant | |
| rs104893652 | pathogenic, Craniofacial deafness hand syndrome | 222,297,158(+) | G/C | upstream_transcript_variant | |
| rs104893653 | pathogenic, Klein-Waardenberg's syndrome | 222,297,160(+) | T/G | upstream_transcript_variant | |
| rs104893654 | pathogenic, Klein-Waardenberg's syndrome | 222,297,031(+) | A/G | upstream_transcript_variant |
Residual Variation Intolerance Score:
55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.20;
24.08% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CCDC140 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CCDC140
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC140 Gene
Disorders for CCDC140 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| craniofacial-deafness-hand syndrome |
|
|
| waardenburg syndrome, type 1 |
|
|
Search CCDC140 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CCDC140
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC140 Gene
Publications for CCDC140 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 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
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58
- Coiled coil domains: stability, specificity, and biological implications. (PMID: 14760737) Mason JM … Arndt KM (Chembiochem : a European journal of chemical biology 2004) 3 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) 4 58
Products for CCDC140 Gene
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- VectorBuilder custom plasmid, inducible vectors for CCDC140
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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
- Search GeneTex for Antibodies for CCDC140
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- genomics-online: cdna clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
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- Overview of 34 available CCDC140 gene related products
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- Overview of 34 available CCDC140 gene related products
- genomics-online: primer clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
- genomics-online: shRNA clones - Search results for 34 available CCDC140 gene related products
- Overview of 34 available CCDC140 gene related products
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC140
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Sources for CCDC140 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
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- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (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
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- (125) NCBI Bookshelf
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- (147) Gene ORGANizer
- (148) abm
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- (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
- (169) Biorbyt