Aliases for DLK1 Gene
Aliases for DLK1 Gene
External Ids for DLK1 Gene
- HGNC: 2907
- Entrez Gene: 8788
- Ensembl: ENSG00000185559
- OMIM: 176290
- UniProtKB: P80370
Previous GeneCards Identifiers for DLK1 Gene
- GC14P098584
- GC14P095008
- GC14P099183
- GC14P100263
- GC14P101193
- GC14P081373
- GC14P101197
- GC14P101211
- GC14P101793
Summaries for DLK1 Gene
-
This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
GeneCards Summary for DLK1 Gene
DLK1 (Delta-Like 1 Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with DLK1 include Paternal 14Q32.2 Microdeletion Syndrome and Maternal 14Q32.2 Microdeletion Syndrome. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NOTCH2NL.
UniProtKB/Swiss-Prot for DLK1 Gene
-
May have a role in neuroendocrine differentiation.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLK1 Gene
Genomics for DLK1 Gene
Regulatory Elements for DLK1 Gene
Enhancers for DLK1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around DLK1 on UCSC Golden Path with GeneCards custom track
Promoters for DLK1 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around DLK1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the DLK1 gene promoter:
Regulatory Element Products
Genomic Location for DLK1 Gene
- Chromosome:
- 14
- Start:
- 100,725,705 bp from pter
- End:
- 100,738,224 bp from pter
- Size:
- 12,520 bases
- Orientation:
- Plus strand
Genomic View for DLK1 Gene
Genes around DLK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q32.2 by Ensembl
- 14q32 by Entrez Gene
- 14q32.2 by HGNC
DLK1 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 DLK1 Gene
Proteins for DLK1 Gene
-
Protein details for DLK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P80370-DLK1_HUMAN
- Recommended name:
- Protein delta homolog 1
- Protein Accession:
- P80370
- P15803
- Q96DW5
Protein attributes for DLK1 Gene
- Size:
- 383 amino acids
- Molecular mass:
- 41300 Da
- Quaternary structure:
-
- Monomer.
- SequenceCaution:
-
- Sequence=CAA35582.1; Type=Frameshift; Positions=22, 108, 199; Evidence={ECO:0000305};
Protein Expression for DLK1 Gene
Post-translational modifications for DLK1 Gene
- N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
- Glycosylation at Ser 94, Asn 100, Thr 143, Ser 163, Asn 165, Asn 172, Ser 214, Thr 222, Ser 251, Thr 256, Ser 260, and Thr 269
- Modification sites at PhosphoSitePlus
Other Protein References for DLK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for DLK1
- R&D Systems Antibodies for DLK1 (Pref-1/DLK1/FA1)
- Cell Signaling Technology (CST) Antibodies for DLK1 (DLK1)
- Novus Biologicals Antibodies for DLK1
-
Cloud-Clone Corp. Antibodies for DLK1
- Invitrogen Antibodies for DLK1
- antibodies-online Antibodies for DLK1: See all 118
- GeneTex DLK1 antibody for DLK1
-
Custom Antibody ServicesProSci Antibodies for DLK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for DLK1
Protein Products
- R&D Systems Proteins and Enzymes for DLK1 (Pref-1/DLK1/FA1)
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-
Cloud-Clone Corp. Proteins for DLK1
- antibodies-online Proteins for DLK1: See all 17
- Search antibodies-online for peptides
- GeneTex DLK1 (His-Tag) recombinant protein (GTX17320) for DLK1
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays, ELISAs, and other biochemical assays for DLK1 (Pref-1/DLK1/FA1)
-
Cloud-Clone Corp Assay Kits for DLK1
- antibodies-online Kits for DLK1: See all 9
No data available for DME Specific Peptides for DLK1 Gene
Domains & Families for DLK1 Gene
Protein Domains for DLK1 Gene
Suggested Antigen Peptide Sequences for DLK1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P80370- Domain:
-
- Contains 6 EGF-like domains.
No data available for Gene Families for DLK1 Gene
Function for DLK1 Gene
Molecular function for DLK1 Gene
- GENATLAS Biochemistry:
- delta (Drosophila)-like 1,member of the EGF-like homeotic family,involved in cell differentiation in a justacrine/paracrine manner and in the pathogenesis of NF1,participating in the control of cell differentiation of several cell type,including small cell lung cancer lines,immune stem cells,B cells and adrenal glumerulose cells
- UniProtKB/Swiss-Prot Function:
- May have a role in neuroendocrine differentiation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for DLK1 Gene
- MGI mutant phenotypes for DLK1:
-
inferred from 4 alleles
- cellular phenotype
- mortality/aging
- reproductive system phenotype
- liver/biliary system phenotype
- immune system phenotype
- cardiovascular system phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- homeostasis/metabolism phenotype
- embryo phenotype
- vision/eye phenotype
- muscle phenotype
- skeleton phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for DLK1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for DLK1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DLK1 gene
- Search ViGene Biosciences for DLK1
CRISPR Products
-
OriGene CRISPR knockouts for DLK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for DLK1
- GenScript: Design CRISPR guide RNA sequences for DLK1
miRNA for DLK1 Gene
- miRTarBase miRNAs that target DLK1
miRNA Products
- Search ViGene Biosciences for DLK1
Clone Products
- OriGene clones in human for DLK1
- OriGene ORF clones in human,mouse,rat for DLK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DLK1
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- Addgene plasmids for DLK1
- R&D Systems cDNA Clones for DLK1 (Pref-1/DLK1/FA1)
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for DLK1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DLK1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DLK1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLK1 Gene
Localization for DLK1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DLK1 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| cytoskeleton | 2 |
| cytosol | 2 |
| endoplasmic reticulum | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
No data available for Gene Ontology (GO) - Cellular Components for DLK1 Gene
Pathways & Interactions for DLK1 Gene
More details on SuperPathways for DLK1Pathways by source for DLK1 Gene
1 Cell Signaling Technology pathway for DLK1 Gene
3 BioSystems pathways for DLK1 Gene
4 Reactome pathways for DLK1 Gene
2 R&D Systems pathways for DLK1 Gene
Interacting Proteins for DLK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030154 | cell differentiation | IEA | -- |
Transcripts for DLK1 Gene
mRNA/cDNA for DLK1 Gene
- (3) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (1111) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DLK1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DLK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for DLK1
- GenScript: Design CRISPR guide RNA sequences for DLK1
miRNA Products
- Search ViGene Biosciences for DLK1
Clone Products
- OriGene clones in human for DLK1
- OriGene ORF clones in human,mouse,rat for DLK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DLK1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for DLK1
- R&D Systems cDNA Clones for DLK1 (Pref-1/DLK1/FA1)
Flow Cytometry Products
Expression for DLK1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for DLK1 Gene
This gene is overexpressed in Adrenal Gland (x27.7), Pituitary (x17.2), and Ovary (x4.8).
This gene is overexpressed in Fetal Brain (24.4), Urine (22.5), and Fetal ovary (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DLK1 Gene
SOURCE GeneReport for Unigene cluster for DLK1 Gene Hs.533717
mRNA Expression by UniProt/SwissProt for DLK1 Gene
P80370-DLK1_HUMAN
Tissue specificity:
Found within the stromal cells in close contact to the vascular structure of placental villi, yolk sac, fetal liver, adrenal cortex and pancreas and in the beta cells of the islets of Langerhans in the adult pancreas. Found also in some forms of neuroendocrine lung tumor tissue.
Primer Products
-
OriGene qPCR primer pairs and template standards for DLK1
-
OriGene qPCR primer pairs for DLK1
No data available for Protein tissue co-expression partners for DLK1 Gene
Orthologs for DLK1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | DLK1 35 |
|
||
| DLK1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Dlk1 35 |
|
||
| Dlk1 16 |
|
||||
| Dlk1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | DLK1 35 |
|
||
| DLK1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Dlk1 35 |
|
||
| cow (Bos Taurus) |
Mammalia | DLK 36 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | DLK1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DLK1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DLK1 35 |
|
||
| DLK1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | DLK1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dlk1 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101883341 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | wry 36 |
|
OneToMany |
- Species with no ortholog for DLK1:
-
- 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)
- 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 (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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for DLK1 Gene
Paralogs for DLK1 Gene
(13) SIMAP similar genes for DLK1 Gene using alignment to 7 proteins:
Variants for DLK1 Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs34686110 | - | 100,729,022(+) | CGGGC(A/T)GTGCA | reference, missense | |
| rs2273607 | - | 100,732,089(+) | CCTGC(A/C/G)TGAGC | reference, missense | |
| rs1058009 | - | 100,734,523(+) | GCCCA(A/G)CGGCT | reference, missense | |
| rs6575799 | - | 100,732,080(+) | ACAAC(A/C/G)GGACC | reference, missense | |
| rs1058006 | - | 100,732,102(+) | GGACG(A/G)TGGCC | reference, missense |
Residual Variation Intolerance Score:
25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.97;
68.18% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for DLK1 Gene
- Human Gene Mutation Database (HGMD)
- DLK1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLK1 Gene
Disorders for DLK1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| paternal 14q32.2 microdeletion syndrome |
|
|
| maternal 14q32.2 microdeletion syndrome |
|
|
| maternal 14q32.2 hypermethylation syndrome |
|
|
| paternal 14q32.2 hypomethylation syndrome |
|
|
| uniparental disomy, paternal, chromosome 14 |
|
|
Search DLK1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for DLK1
No data available for UniProtKB/Swiss-Prot and Genatlas for DLK1 Gene
Publications for DLK1 Gene
- Protein structure of fetal antigen 1 (FA1). A novel circulating human epidermal-growth-factor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2. (PMID: 7925474) Jensen C.H. … Teisner B. (Eur. J. Biochem. 1994) 2 3 4 23 67
- An upstream insulator regulates DLK1 imprinting in AML. (PMID: 20089961) Khoury H. … Minden M.D. (Blood 2010) 3 23
- Delta-like 1 contributes to cell growth by increasing the interferon-inducible protein 16 expression in hepatocellular carcinoma. (PMID: 20214740) Yu F. … Li J. (Liver Int. 2010) 3 23
- Expression regulation and function of Pref-1 during adipogenesis of human mesenchymal stem cells (MSCs). (PMID: 19427405) Jing K. … Park J.I. (Biochim. Biophys. Acta 2009) 3 23
- Induction of Dlk1 by PTTG1 inhibits adipocyte differentiation and correlates with malignant transformation. (PMID: 19477929) Espina A.G. … Pintor-Toro J.A. (Mol. Biol. Cell 2009) 3 23
Products for DLK1 Gene
- R&D Systems Antibodies for DLK1 (Pref-1/DLK1/FA1)
- R&D Systems Proteins and Enzymes for DLK1 (Pref-1/DLK1/FA1)
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for DLK1 (Pref-1/DLK1/FA1)
- R&D Systems cDNA Clones for DLK1 (Pref-1/DLK1/FA1)
- Browse Primary Antibodies
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- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for DLK1
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- Browse OriGene Inhibitory RNA Products For DLK1
- OriGene qPCR primer pairs for DLK1
- OriGene qPCR primer pairs and template standards for DLK1
- OriGene CRISPR knockouts for DLK1
- OriGene clones in human for DLK1
- OriGene ORF clones in human,mouse,rat for DLK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Cell Signaling Technology (CST) Antibodies for DLK1 (DLK1)
- Search for Antibodies & Assays
- Novus Biologicals Antibodies for DLK1
- Novus Biologicals proteins and lysates for DLK1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for DLK1
- Cloud-Clone Corp. Proteins for DLK1
- Cloud-Clone Corp Assay Kits for DLK1
- Addgene plasmids for DLK1
- antibodies-online Antibodies for DLK1: See all 118
- antibodies-online Kits for DLK1: See all 9
- antibodies-online Proteins for DLK1: See all 17
- Search antibodies-online for peptides
- GeneTex DLK1 antibody for DLK1
- GeneTex DLK1 (His-Tag) recombinant protein (GTX17320) for DLK1
- ViGene Biosciences adenoviral particle packaged cDNA for DLK1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for DLK1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for DLK1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for DLK1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for DLK1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for DLK1 gene
- Search ViGene Biosciences for DLK1
- Search ViGene Biosciences for DLK1
- Santa Cruz Biotechnology (SCBT) Antibodies for DLK1
- Search Santa Cruz Biotechnology (SCBT) for DLK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DLK1
- Custom Antibody ServicesProSci Antibodies for DLK1
Sources for DLK1 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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
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- (100) ESI-BIO
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- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
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- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon