Aliases for MFRP Gene
Aliases for MFRP Gene
External Ids for MFRP Gene
- HGNC: 18121
- Entrez Gene: 83552
- Ensembl: ENSG00000235718
- OMIM: 606227
- UniProtKB: Q9BY79
Previous GeneCards Identifiers for MFRP Gene
- GC11M121209
- GC11M120722
- GC11M119244
- GC11M118749
- GC11M118714
- GC11M115150
- GC11M119218
Summaries for MFRP Gene
-
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
GeneCards Summary for MFRP Gene
MFRP (Membrane Frizzled-Related Protein) is a Protein Coding gene. Diseases associated with MFRP include Nanophthalmos 2 and Microphthalmia, Isolated 5. Among its related pathways are Akt Signaling Pathway. An important paralog of this gene is TLL1.
UniProtKB/Swiss-Prot for MFRP Gene
-
May play a role in eye development.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFRP Gene
Genomics for MFRP Gene
Regulatory Elements for MFRP Gene
Enhancers for MFRP 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 MFRP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for MFRP Gene
- Chromosome:
- 11
- Start:
- 119,338,934 bp from pter
- End:
- 119,346,673 bp from pter
- Size:
- 7,740 bases
- Orientation:
- Minus strand
Genomic View for MFRP Gene
Genes around MFRP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23 by Entrez Gene
- 11q23.3 by HGNC
MFRP 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 MFRP Gene
Proteins for MFRP Gene
-
Protein details for MFRP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BY79-MFRP_HUMAN
- Recommended name:
- Membrane frizzled-related protein
- Protein Accession:
- Q9BY79
- B0YJ36
- B0YJ37
- B4DHN8
- Q335M3
- Q96DQ9
Protein attributes for MFRP Gene
- Size:
- 579 amino acids
- Molecular mass:
- 62212 Da
- Quaternary structure:
-
- Interacts with C1QTNF5.
- Miscellaneous:
-
- This protein is produced by a bicistronic gene which also produces the C1QTNF5 protein from a non-overlapping reading frame.
Post-translational modifications for MFRP Gene
Other Protein References for MFRP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for MFRP (MFRP)
- Novus Biologicals Antibodies for MFRP
- Invitrogen Antibodies for MFRP
- antibodies-online Antibodies for MFRP: See all 19
- GeneTex MFRP antibody for MFRP
-
Santa Cruz Biotechnology (SCBT) Antibodies for MFRP
Protein Products
- R&D Systems Proteins and Enzymes for MFRP
-
OriGene Purified Proteins for MFRP
- Search Origene for MassSpec and Protein Over-expression Lysates for MFRP
- Origene Custom Protein Services for MFRP
- Novus Biologicals proteins for MFRP
- antibodies-online Proteins for MFRP: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MFRP
Assay Products
- antibodies-online Kits for MFRP: See all 2
No data available for DME Specific Peptides for MFRP Gene
Domains & Families for MFRP Gene
Protein Domains for MFRP Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MFRP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BY79- Domain:
-
- Contains 2 CUB domains.
- Contains 1 FZ (frizzled) domain.
- Contains 2 LDL-receptor class A domains.
No data available for Gene Families for MFRP Gene
Function for MFRP Gene
Molecular function for MFRP Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in eye development.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for MFRP Gene
- MGI mutant phenotypes for MFRP:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MFRP:
Animal Model Products
-
Taconic Biosciences Mouse Models for MFRP
-
ViGene Biosciences lentiviral particle packaged cDNA for MFRP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MFRP gene
- Search ViGene Biosciences for MFRP
CRISPR Products
-
OriGene CRISPR knockouts for MFRP
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFRP
- GenScript: Design CRISPR guide RNA sequences for MFRP
miRNA for MFRP Gene
- miRTarBase miRNAs that target MFRP
-
- hsa-mir-6769b-5p (MIRT473273)
- hsa-mir-6763-5p (MIRT473274)
- hsa-mir-3150a-3p (MIRT473275)
- hsa-mir-491-5p (MIRT473276)
- hsa-mir-6766-5p (MIRT473277)
- hsa-mir-92a-2-5p (MIRT473278)
- hsa-mir-6756-5p (MIRT473279)
- hsa-mir-608 (MIRT473280)
- hsa-mir-4651 (MIRT473281)
- hsa-mir-7110-5p (MIRT473282)
- hsa-mir-6842-5p (MIRT473283)
- hsa-mir-6752-5p (MIRT473284)
- hsa-mir-6825-5p (MIRT473285)
- hsa-mir-939-5p (MIRT473286)
- hsa-mir-3175 (MIRT473287)
- hsa-mir-1343-5p (MIRT473288)
- hsa-mir-7106-5p (MIRT473289)
- hsa-mir-6894-5p (MIRT473290)
- hsa-mir-6081 (MIRT473291)
- hsa-mir-4722-5p (MIRT473292)
- hsa-mir-6732-5p (MIRT473293)
- hsa-mir-4459 (MIRT473294)
- hsa-mir-4661-3p (MIRT473295)
- hsa-mir-4779 (MIRT473296)
- hsa-mir-6165 (MIRT473297)
- hsa-mir-6773-5p (MIRT715900)
- hsa-mir-6724-5p (MIRT715901)
- hsa-mir-654-5p (MIRT715902)
- hsa-mir-541-3p (MIRT715903)
- hsa-mir-4281 (MIRT715904)
- hsa-mir-296-5p (MIRT715905)
- hsa-mir-3621 (MIRT715906)
- hsa-mir-6845-3p (MIRT715907)
- hsa-mir-6786-5p (MIRT715908)
- hsa-mir-7108-3p (MIRT715909)
- hsa-mir-4258 (MIRT715910)
miRNA Products
- Search ViGene Biosciences for MFRP
Clone Products
- OriGene clones in human for MFRP
- OriGene ORF clones in human,mouse,rat for MFRP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for MFRP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MFRP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MFRP gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MFRP Gene
Localization for MFRP Gene
Subcellular locations from UniProtKB/Swiss-Prot for MFRP Gene
- Apical cell membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016324 | apical plasma membrane | IEA | -- |
Pathways & Interactions for MFRP Gene
More details on SuperPathways for MFRP| Superpath | Contained pathways | |
|---|---|---|
| 1 | Akt Signaling Pathway |
Pathways by source for MFRP Gene
1 R&D Systems pathway for MFRP Gene
Interacting Proteins for MFRP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007601 | visual perception | IEA | -- |
| GO:0009790 | embryo development | NAS | 11263980 |
No data available for SIGNOR curated interactions for MFRP Gene
Transcripts for MFRP Gene
mRNA/cDNA for MFRP Gene
- (1) REFSEQ mRNAs :
- (96) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for MFRP
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFRP
- GenScript: Design CRISPR guide RNA sequences for MFRP
miRNA Products
- Search ViGene Biosciences for MFRP
Clone Products
- OriGene clones in human for MFRP
- OriGene ORF clones in human,mouse,rat for MFRP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for MFRP Gene
mRNA Expression by UniProt/SwissProt for MFRP Gene
Q9BY79-MFRP_HUMAN
Tissue specificity:
Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
Primer Products
-
OriGene qPCR primer pairs for MFRP
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MFRP Gene
Orthologs for MFRP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | MFRP 35 |
|
||
| MFRP 36 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | MFRP 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Mfrp 35 |
|
||
| Mfrp 16 |
|
||||
| Mfrp 36 |
|
OneToMany | |||
| chimpanzee (Pan troglodytes) |
Mammalia | MFRP 35 |
|
||
| -- 36 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Mfrp 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 36 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
ManyToMany | |
| -- 36 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | MFRP 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 36 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | LOC101885305 35 |
|
||
| MFRP 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32702 36 |
|
ManyToMany | |
| CG42255 36 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | ZC116.3 36 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
ManyToMany |
- Species with no ortholog for MFRP:
-
- 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 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)
Paralogs for MFRP Gene
Paralogs for MFRP Gene
(1) SIMAP similar genes for MFRP Gene using alignment to 2 proteins:
Variants for MFRP Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_025691 | - | ||||
| VAR_025692 | - | ||||
| VAR_025693 | - | ||||
| VAR_025694 | Nanophthalmos 2 (NNO2) | ||||
| VAR_025695 | - |
Residual Variation Intolerance Score:
24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.22;
76.12% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for MFRP Gene
- Human Gene Mutation Database (HGMD)
- MFRP
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFRP Gene
Disorders for MFRP Gene
(12) MalaCards diseases for MFRP Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nanophthalmos 2 |
|
|
| microphthalmia, isolated 5 |
|
|
| microphthalmia |
|
|
| isolated microphthalmia |
|
|
| optic disk drusen |
|
|
Search MFRP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MFRP_HUMAN- Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:17167404}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. {ECO:0000269 PubMed:15976030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for MFRP
No data available for Genatlas for MFRP Gene
Publications for MFRP Gene
- Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type frizzled-related protein. (PMID: 11263980) Katoh M. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 23 67
- A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. (PMID: 20361016) Mukhopadhyay R. … Webster A.R. (Mol. Vis. 2010) 3 23
- Evaluation of MFRP as a candidate gene for high hyperopia. (PMID: 19169412) Wang P. … Zhang Q. (Mol. Vis. 2009) 3 23
- Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. (PMID: 19753314) Zenteno J.C. … Quiroz-Reyes M.A. (Mol. Vis. 2009) 3 23
- Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PMID: 18334955) Metlapally R. … Young T.L. (Mol. Vis. 2008) 3 23
Products for MFRP Gene
- R&D Systems Antibodies for MFRP (MFRP)
- R&D Systems Proteins and Enzymes for MFRP
- 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
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- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MFRP
- Search Origene for MassSpec and Protein Over-expression Lysates for MFRP
- Origene Custom Protein Services for MFRP
- Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for MFRP
- Browse OriGene Inhibitory RNA Products For MFRP
- OriGene qPCR primer pairs for MFRP
- OriGene CRISPR knockouts for MFRP
- OriGene clones in human for MFRP
- OriGene ORF clones in human,mouse,rat for MFRP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
- GenScript Custom Purified and Recombinant Proteins Services for MFRP
- GenScript Custom Assay Services for MFRP
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- GenScript: Design CRISPR guide RNA sequences for MFRP
- Design optimal peptide antigens
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- Plasmid Preparation
- GenScript Custom Peptide Services for MFRP
- Novus Biologicals Antibodies for MFRP
- Novus Biologicals proteins for MFRP
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Taconic Biosciences Mouse Models for MFRP
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for MFRP: See all 19
- antibodies-online Kits for MFRP: See all 2
- antibodies-online Proteins for MFRP: See all 5
- Search antibodies-online for peptides
- GeneTex MFRP antibody for MFRP
- Search GeneTex for Proteins for MFRP
- ViGene Biosciences adenoviral particle packaged cDNA for MFRP gene
- ViGene Biosciences lentiviral particle packaged cDNA for MFRP gene
- ViGene Biosciences lentiviral particle packaged cDNA for MFRP gene
- ViGene Biosciences ready-to-package AAV shRNAs for MFRP gene
- ViGene Biosciences ready-to-package AAV shRNAs for MFRP gene
- ViGene Biosciences ready-to-package AAV shRNAs for MFRP gene
- Search ViGene Biosciences for MFRP
- Search ViGene Biosciences for MFRP
- Santa Cruz Biotechnology (SCBT) Antibodies for MFRP
- Search Santa Cruz Biotechnology (SCBT) for MFRP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MFRP
Sources for MFRP 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
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon