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The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010] See more...
Aliases for SPINK6 Gene
Aliases for SPINK6 Gene
External Ids for SPINK6 Gene
- HGNC: 29486
- Entrez Gene: 404203
- Ensembl: ENSG00000178172
- OMIM: 615868
- UniProtKB: Q6UWN8
Previous GeneCards Identifiers for SPINK6 Gene
- GC05P147564
- GC05P142729
Summaries for SPINK6 Gene
-
The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
GeneCards Summary for SPINK6 Gene
SPINK6 (Serine Peptidase Inhibitor Kazal Type 6) is a Protein Coding gene. Diseases associated with SPINK6 include Pompholyx. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SPINK5.
UniProtKB/Swiss-Prot Summary for SPINK6 Gene
-
Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8.
Additional gene information for SPINK6 Gene
- HGNC(29486)
- Entrez Gene(404203)
- Ensembl(ENSG00000178172)
- OMIM(615868)
- UniProtKB(Q6UWN8)
- Open Targets Platform(ENSG00000178172)
- Search for SPINK6 at DataMed
- Search for SPINK6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPINK6 Gene
Genomics for SPINK6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SPINK6 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 SPINK6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPINK6
- Top Transcription factor binding sites by QIAGEN in the SPINK6 gene promoter:
-
- AML1a
- AP-1
- c-Fos
- c-Jun
- FosB
- Fra-1
- IRF-7A
- JunB
- JunD
- Sox5
Genomic Locations for SPINK6 Gene
Genomic Locations for SPINK6 Gene
- chr5:148,202,794-148,215,137
- (GRCh38/hg38)
- Size:
- 12,344 bases
- Orientation:
- Plus strand
- chr5:147,582,357-147,594,700
- (GRCh37/hg19)
- Size:
- 12,344 bases
- Orientation:
- Plus strand
Genomic View for SPINK6 Gene
Genes around SPINK6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q32 by HGNC
- 5q32 by Entrez Gene
- 5q32 by Ensembl
SPINK6 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 SPINK6 Gene
Proteins for SPINK6 Gene
-
Protein details for SPINK6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6UWN8-ISK6_HUMAN
- Recommended name:
- Serine protease inhibitor Kazal-type 6
- Protein Accession:
- Q6UWN8
- E0X656
- Q8N5P0
Protein attributes for SPINK6 Gene
- Size:
- 80 amino acids
- Molecular mass:
- 8585 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for SPINK6 Gene
Other Protein References for SPINK6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-SPINK6 monoclonal antibody
- Creative Biolabs Mouse Anti-SPINK6 Recombinant Antibody (CBXS-3030)
- Novus Biologicals Antibodies for SPINK6
- Invitrogen Antibodies for SPINK6 (AFLGC-SPINK6)
-
Biorbyt antibodies for SPINK6
-
Boster Bio Antibodies for SPINK6
Protein Products
-
OriGene Purified Proteins for SPINK6
- Search Origene for MassSpec and Protein Over-expression Lysates for SPINK6
- Origene Custom Protein Services for SPINK6
- Novus Biologicals proteins for SPINK6
- antibodies-online: Show 5 available SPINK6 Proteins ranked by validation data
- Compare Top SPINK6 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 3 available SPINK6 Elisa Kits ranked by validation data
- Compare Top SPINK6 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SPINK6 Gene
Domains & Families for SPINK6 Gene
Gene Families for SPINK6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
Protein Domains for SPINK6 Gene
- InterPro:
- Blocks:
-
- Kazal-type serine protease inhibitor signature
- ProtoNet:
Suggested Antigen Peptide Sequences for SPINK6 Gene
- GenScript: Design optimal peptide antigens:
-
- Serine peptidase inhibitor, Kazal type 6, isoform CRA_a (E0X656_HUMAN)
- Serine protease inhibitor Kazal-type 6 (ISK6_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPINK6 Gene
Function for SPINK6 Gene
Molecular function for SPINK6 Gene
- UniProtKB/Swiss-Prot Function:
- Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8.
Phenotypes From GWAS Catalog for SPINK6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004867 | serine-type endopeptidase inhibitor activity | IBA | 21873635 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SPINK6 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for SPINK6
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPINK6 - Select products 50% OFF >
- * SPINK6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPINK6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPINK6
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPINK6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPINK6
- Browse OriGene Inhibitory RNA Products For SPINK6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINK6
Clone Products
- Applied Biological Materials (abm): Clones for SPINK6 - Select products 50% OFF >
- * SPINK6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SPINK6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPINK6
Cell Line Products
-
Horizon Cell Lines for SPINK6
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK6 Gene
Localization for SPINK6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPINK6 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPINK6 Gene
Pathways & Interactions for SPINK6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratinization |
.33
|
|
| 2 | Developmental Biology | ||
Pathways by source for SPINK6 Gene
3 Reactome pathways for SPINK6 Gene
Interacting Proteins for SPINK6 Gene
GPS-Prot Interaction Network for SPINK6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007275 | multicellular organism development | IBA | 21873635 |
| GO:0007417 | central nervous system development | IBA | 21873635 |
| GO:0010466 | negative regulation of peptidase activity | IEA | -- |
| GO:0030154 | cell differentiation | IBA | 21873635 |
| GO:0070268 | cornification | TAS | -- |
No data available for SIGNOR curated interactions for SPINK6 Gene
Drugs & Compounds for SPINK6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Leucine - Reduced Carbonyl | Experimental | Pharma | Target | 0 |
Transcripts for SPINK6 Gene
mRNA/cDNA for SPINK6 Gene
- 2 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000325630 485 nts (view in UCSC)
- ENST00000514389 300 nts (view in UCSC)
- ENST00000621437 605 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPINK6 - Select products 50% OFF >
- * SPINK6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPINK6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPINK6
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPINK6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPINK6
- Browse OriGene Inhibitory RNA Products For SPINK6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINK6
Clone Products
- Applied Biological Materials (abm): Clones for SPINK6 - Select products 50% OFF >
- * SPINK6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SPINK6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPINK6
Relevant External Links for SPINK6 Gene
- GeneLoc Exon Structure for
- SPINK6
Expression for SPINK6 Gene
mRNA differential expression in normal tissues according to GTEx for SPINK6 Gene
This gene is overexpressed in Brain - Cerebellum (x10.9), Colon - Sigmoid (x8.0), Vagina (x7.8), Cervix - Ectocervix (x7.6), Minor Salivary Gland (x5.6), and Brain - Cerebellar Hemisphere (x4.2).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPINK6
SOURCE GeneReport for Unigene cluster for SPINK6 Gene:
Hs.334274Evidence on tissue expression from TISSUES for SPINK6 Gene
- Skin(4.3)
- Liver(2)
Primer Products
-
OriGene qPCR primer pairs for SPINK6
-
OriGene qPCR primer pairs and template standards for SPINK6
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINK6 Gene
Orthologs for SPINK6 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SPINK6 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SPINK6 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SPINK6 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SPINK6 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SPINK6 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Spink6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SPINK6 31 |
|
OneToOne |
- Species where no ortholog for SPINK6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 SPINK6 Gene
- ENSEMBL:
- Gene Tree for SPINK6 (if available)
- TreeFam:
- Gene Tree for SPINK6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPINK6: view image
Paralogs for SPINK6 Gene
Variants for SPINK6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPINK6 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs12186491 | - | p.Pro36Thr |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1643002 | CNV | insertion | 17803354 |
| esv2730896 | CNV | deletion | 23290073 |
| esv3342088 | CNV | insertion | 20981092 |
| esv3607101 | CNV | loss | 21293372 |
| esv3607102 | CNV | loss | 21293372 |
| nsv830515 | CNV | gain+loss | 17160897 |
Residual Variation Intolerance Score:
73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.61;
13.05% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPINK6 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SPINK6
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK6 Gene
Disorders for SPINK6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pompholyx |
|
|
Search SPINK6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SPINK6
No data available for UniProtKB/Swiss-Prot and Genatlas for SPINK6 Gene
Publications for SPINK6 Gene
- Inhibition of kallikrein-related peptidases by the serine protease inhibitor of Kazal-type 6. (PMID: 21439340) Kantyka T … Meyer-Hoffert U (Peptides 2011) 3 4
- Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases. (PMID: 20667819) Meyer-Hoffert U … Schröder JM (The Journal of biological chemistry 2010) 3 4
- 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
- Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4
- A genomic analysis of rat proteases and protease inhibitors. (PMID: 15060002) Puente XS … López-Otín C (Genome research 2004) 2 3
ExternalLinks
Products for SPINK6 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SPINK6
- Search Origene for MassSpec and Protein Over-expression Lysates for SPINK6
- Origene Custom Protein Services for SPINK6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPINK6
- Browse OriGene Inhibitory RNA Products For SPINK6
- OriGene qPCR primer pairs for SPINK6
- OriGene qPCR primer pairs and template standards for SPINK6
- OriGene CRISPR knockouts for SPINK6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SPINK6
- Sino Biological Human cDNA Clone for SPINK6
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SPINK6
- Novus Biologicals proteins for SPINK6
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for SPINK6
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SPINK6 (AFLGC-SPINK6)
- VectorBuilder Custom and pre-made DNA vectors for SPINK6 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SPINK6 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SPINK6 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SPINK6 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SPINK6
- antibodies-online: Show 5 available SPINK6 Antibodies ranked by validation data
- Compare Top SPINK6 Antibodies
- antibodies-online: Show 3 available SPINK6 Elisa Kits ranked by validation data
- Compare Top SPINK6 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available SPINK6 Proteins ranked by validation data
- Compare Top SPINK6 Proteins
- Quality Products:
- Horizon Cell Lines for SPINK6
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPINK6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPINK6
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SPINK6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINK6
- Boster Bio Antibodies for SPINK6
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for SPINK6
Sources for SPINK6 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
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
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- (43) HuGE
- (44) Atlas
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- (50) miRBase
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- (53) PubMed
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- (55) TGDB
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- (57) Abcam
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- (62) Qiagen
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
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- (89) antibodies-online
- (90) CYP
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- (92) TreeFam
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