Aliases for FASTKD2 Gene
Aliases for FASTKD2 Gene
External Ids for FASTKD2 Gene
- HGNC: 29160
- Entrez Gene: 22868
- Ensembl: ENSG00000118246
- OMIM: 612322
- UniProtKB: Q9NYY8
Previous HGNC Symbols for FASTKD2 Gene
- KIAA0971
Previous GeneCards Identifiers for FASTKD2 Gene
- GC02P207338
- GC02P207630
- GC02P199479
Summaries for FASTKD2 Gene
-
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
GeneCards Summary for FASTKD2 Gene
FASTKD2 (FAST Kinase Domains 2) is a Protein Coding gene. Diseases associated with FASTKD2 include Mitochondrial Complex Iv Deficiency and Fastkd2-Related Infantile Mitochondrial Encephalomyopathy. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity.
UniProtKB/Swiss-Prot for FASTKD2 Gene
-
Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FASTKD2 Gene
Genomics for FASTKD2 Gene
Regulatory Elements for FASTKD2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02G206764 | 1.1 | ENCODE | 7.7 | +0.2 | 245 | 2.4 | MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 | MDH1B FASTKD2 MIR3130-2 |
| GH02G207075 | 1.6 | dbSUPER | 5.2 | +313.0 | 313026 | 6.2 | HLF CEBPB MNT CEBPG ZFHX2 SMARCA4 POLR2A SCRT2 EGR2 | KLF7 MIR2355 FASTKD2 PIR40017 |
| GH02G205913 | 0.5 | ENCODE | 9.8 | -850.6 | -850583 | 3.2 | ZNF791 FOXA2 ZNF341 NR2F1 NBN | ENSG00000225216 NRP2 ENSG00000225610 FASTKD2 RN7SKP178 ENSG00000213739 |
| GH02G206700 | 0.4 | Ensembl | 11.4 | -65.2 | -65157 | 0.4 | EGR2 | FASTKD2 MDH1B ENSG00000207319 LOC100420893 |
- Transcription factor binding sites by QIAGEN in the FASTKD2 gene promoter:
Regulatory Element Products
Genomic Location for FASTKD2 Gene
- Chromosome:
- 2
- Start:
- 206,765,357 bp from pter
- End:
- 206,796,189 bp from pter
- Size:
- 30,833 bases
- Orientation:
- Plus strand
Genomic View for FASTKD2 Gene
- Cytogenetic band:
-
- 2q33.3 by Ensembl
- 2q33.3 by Entrez Gene
- 2q33.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FASTKD2 Gene
Proteins for FASTKD2 Gene
-
Protein details for FASTKD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NYY8-FAKD2_HUMAN
- Recommended name:
- FAST kinase domain-containing protein 2, mitochondrial
- Protein Accession:
- Q9NYY8
- Q9NVX6
- Q9Y2H7
Protein attributes for FASTKD2 Gene
- Size:
- 710 amino acids
- Molecular mass:
- 81463 Da
- Quaternary structure:
-
- Monomer. Found in a complex with GRSF1, DDX28, DHX30 and FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA).
- SequenceCaution:
-
- Sequence=BAA76815.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91617.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for FASTKD2 Gene
Post-translational modifications for FASTKD2 Gene
Other Protein References for FASTKD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FASTKD2
- Invitrogen Antibodies for FASTKD2
- antibodies-online Antibodies for FASTKD2: See all 53
- Search GeneTex for Antibodies for FASTKD2
Protein Products
-
OriGene Purified Proteins for FASTKD2
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- antibodies-online Proteins for FASTKD2: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FASTKD2
Assay Products
No data available for DME Specific Peptides for FASTKD2 Gene
Domains & Families for FASTKD2 Gene
Protein Domains for FASTKD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FASTKD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NYY8- Family:
-
- Belongs to the FAST kinase family.
No data available for Gene Families for FASTKD2 Gene
Function for FASTKD2 Gene
Molecular function for FASTKD2 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IDA | 22658674 |
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0019843 | rRNA binding | IEA,IDA | 25683715 |
Phenotypes for FASTKD2 Gene
- GenomeRNAi human phenotypes for FASTKD2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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ViGene Biosciences lentiviral particle packaged cDNA for FASTKD2 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for FASTKD2
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Santa Cruz Biotechnology (SCBT) CRISPR for FASTKD2
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miRNA for FASTKD2 Gene
- miRTarBase miRNAs that target FASTKD2
miRNA Products
- Search ViGene Biosciences for FASTKD2
Inhibitory RNA Products
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-
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for FASTKD2
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ViGene Biosciences adenoviral particle packaged cDNA for FASTKD2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FASTKD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FASTKD2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FASTKD2 Gene
Localization for FASTKD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FASTKD2 Gene
- Mitochondrion matrix, mitochondrion nucleoid. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269 PubMed:25683715}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 20869947 |
| GO:0035770 | ribonucleoprotein granule | IDA | 25683715 |
| GO:0042645 | mitochondrial nucleoid | IEA,IDA | 25683715 |
| GO:0045171 | intercellular bridge | IDA | -- |
Pathways & Interactions for FASTKD2 Gene
Interacting Proteins for FASTKD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | protein phosphorylation | IEA | -- |
| GO:0042254 | ribosome biogenesis | IEA | -- |
| GO:0045333 | cellular respiration | ISS | 20869947 |
| GO:1902775 | mitochondrial large ribosomal subunit assembly | IMP | 25683715 |
No data available for Pathways by source and SIGNOR curated interactions for FASTKD2 Gene
Transcripts for FASTKD2 Gene
mRNA/cDNA for FASTKD2 Gene
- (3) REFSEQ mRNAs :
- (229) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FASTKD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FASTKD2
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FASTKD2
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-
ViGene Biosciences ready-to-package AAV shRNAs for FASTKD2 gene
Clone Products
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
Expression for FASTKD2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FASTKD2 Gene
NURSA nuclear receptor signaling pathways regulating expression of FASTKD2 Gene:
FASTKD2SOURCE GeneReport for Unigene cluster for FASTKD2 Gene:
Hs.5930mRNA Expression by UniProt/SwissProt for FASTKD2 Gene:
Q9NYY8-FAKD2_HUMANEvidence on tissue expression from TISSUES for FASTKD2 Gene
- Nervous system(4.8)
- Adrenal gland(4.2)
- Liver(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FASTKD2 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- urinary
- brain
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- meninges
- neck
- bronchus
- heart
- heart valve
- lung
- trachea
- kidney
- liver
- blood
- blood vessel
- coagulation system
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for FASTKD2
-
OriGene qPCR primer pairs and template standards for FASTKD2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FASTKD2 Gene
Orthologs for FASTKD2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FASTKD2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FASTKD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FASTKD2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fastkd2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fastkd2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FASTKD2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FASTKD2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FASTKD2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FASTKD2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fastkd2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fastkd2 34 35 |
|
- Species where no ortholog for FASTKD2 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)
- 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)
- 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 FASTKD2 Gene
No data available for Paralogs for FASTKD2 Gene
Variants for FASTKD2 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs118203917 | Pathogenic | 206,774,264(+) | GCTTT(C/T)GACCT | nc-transcript-variant, reference, stop-gained | |
| rs144499152 | Likely pathogenic | 206,771,211(+) | GAAAA(C/T)AGAAG | nc-transcript-variant, reference, missense | |
| rs748507111 | Likely pathogenic | 206,771,265(+) | TGCAC(C/G/T)GATTG | nc-transcript-variant, reference, missense | |
| rs863223962 | Likely pathogenic | 206,767,375(+) | TCATG(C/T)AGTAT | nc-transcript-variant, upstream-variant-2KB, reference, stop-gained | |
| rs1001805 | Likely benign | 206,794,807(+) | TTCCA(A/G)TTTAT | intron-variant, utr-variant-3-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1011347 | CNV | gain | 25217958 |
Relevant External Links for FASTKD2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FASTKD2 Gene
Disorders for FASTKD2 Gene
(3) MalaCards diseases for FASTKD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial complex iv deficiency |
|
|
| fastkd2-related infantile mitochondrial encephalomyopathy |
|
|
| mitochondrial encephalomyopathy |
|
|
Relevant External Links for FASTKD2
No data available for UniProtKB/Swiss-Prot and Genatlas for FASTKD2 Gene
Publications for FASTKD2 Gene
- Mitochondrial RNA granules are centers for posttranscriptional RNA processing and ribosome biogenesis. (PMID: 25683715) Antonicka H. … Shoubridge E.A. (Cell Rep. 2015) 3 4 64
- Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka D.C. … Mohlke K.L. (Obesity (Silver Spring) 2011) 3 46 64
- Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. (PMID: 20869947) Simarro M. … Anderson P. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
Products for FASTKD2 Gene
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- Novus Biologicals Antibodies for FASTKD2
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- antibodies-online Antibodies for FASTKD2: See all 53
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- antibodies-online Proteins for FASTKD2: See all 5
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- ViGene Biosciences adenoviral particle packaged cDNA for FASTKD2 gene
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- Horizon Cell Lines for FASTKD2
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- VectorBuilder custom plasmid, inducible vectors for FASTKD2
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- 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
Sources for FASTKD2 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




