Aliases for FAM83D Gene
Aliases for FAM83D Gene
External Ids for FAM83D Gene
- HGNC: 16122
- Entrez Gene: 81610
- Ensembl: ENSG00000101447
- UniProtKB: Q9H4H8
Previous HGNC Symbols for FAM83D Gene
- C20orf129
Previous GeneCards Identifiers for FAM83D Gene
- GC20P036989
- GC20P037554
- GC20P034292
Summaries for FAM83D Gene
GeneCards Summary for FAM83D Gene
FAM83D (Family With Sequence Similarity 83 Member D) is a Protein Coding gene. Diseases associated with FAM83D include Kleine-Levin Hibernation Syndrome. An important paralog of this gene is FAM83H.
UniProtKB/Swiss-Prot for FAM83D Gene
-
Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83D Gene
Genomics for FAM83D Gene
Regulatory Elements for FAM83D 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 |
|---|---|---|---|---|---|---|---|---|
| GH20G038960 | 1.4 | ENCODE dbSUPER | 28.9 | +37.1 | 37054 | 2.5 | HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 YY1 | FAM83D DHX35 SNORA60 ENSG00000261431 |
| GH20G038946 | 1.3 | ENCODE dbSUPER | 29 | +22.8 | 22791 | 2.3 | HDGF PKNOX1 ATF1 CREB3L1 ARNT E2F7 TCF12 ZNF766 ELK1 GATA2 | FAM83D DHX35 GC20M038952 |
| GH20G038898 | 1.1 | dbSUPER | 27.5 | -24.3 | -24294 | 4.3 | FOXA2 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 | FAM83D SNORA71A TTI1 ACTR5 SNHG17 RN7SKP173 SNORA71C RPRD1B DHX35 SNORA71B |
| GH20G038969 | 1 | ENCODE dbSUPER | 29.2 | +45.2 | 45216 | 1.9 | KLF1 PKNOX1 ZBTB21 KLF17 RBBP5 ZFHX2 GLIS2 POLR2A EGR1 PRDM10 | FAM83D DHX35 ENSG00000277581 NPM1P19 |
| GH20G038925 | 1.4 | ENCODE dbSUPER | 19.4 | +3.0 | 2997 | 4.8 | HNRNPUL1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 | FAM83D SNHG17 ACTR5 SNORA60 SNORA71A DHX35 GC20M038952 |
Regulatory Element Products
Genomic Location for FAM83D Gene
- Chromosome:
- 20
- Start:
- 38,925,078 bp from pter
- End:
- 38,953,106 bp from pter
- Size:
- 28,029 bases
- Orientation:
- Plus strand
Genomic View for FAM83D Gene
- Cytogenetic band:
-
- 20q11.23 by Ensembl
- 20q11.23 by Entrez Gene
- 20q11.23 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FAM83D Gene
Proteins for FAM83D Gene
-
Protein details for FAM83D Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H4H8-FA83D_HUMAN
- Recommended name:
- Protein FAM83D
- Protein Accession:
- Q9H4H8
- B4E1I7
- Q5THR2
- Q68EN1
- Q6P457
- Q7Z6H0
- Q96DF5
- Q96N89
- Q9BVM8
Protein attributes for FAM83D Gene
- Size:
- 585 amino acids
- Molecular mass:
- 64424 Da
- Quaternary structure:
-
- Interacts with FBXW7; promotes FBXW7 degradation (PubMed:24344117). May interact with RAF1 (PubMed:24736947). Interacts with KIF22; recruits KIF22 to mitotic spindle microtubules (PubMed:18485706).
- Miscellaneous:
-
- Was named CHICA (girl in Spanish) because it interacts with KID.
- SequenceCaution:
-
- Sequence=AAH01068.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH06553.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH53683.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH63661.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH80188.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71016.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71016.1; Type=Erroneous termination; Positions=262; Note=Translated as Trp.; Evidence={ECO:0000305};
Protein Expression for FAM83D Gene
Post-translational modifications for FAM83D Gene
- Phosphorylated during mitosis.
- Ubiquitination at isoforms=2149 and Lys310
- Modification sites at PhosphoSitePlus
Other Protein References for FAM83D Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FAM83D
- Novus Biologicals Antibodies for FAM83D
- Invitrogen Antibodies for FAM83D
- antibodies-online Antibodies for FAM83D: See all 10
- Search GeneTex for Antibodies for FAM83D
Protein Products
-
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- antibodies-online Proteins for FAM83D: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FAM83D
Assay Products
No data available for DME Specific Peptides for FAM83D Gene
Domains & Families for FAM83D Gene
Protein Domains for FAM83D Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAM83D Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H4H8- Family:
-
- Belongs to the FAM83 family.
No data available for Gene Families for FAM83D Gene
Function for FAM83D Gene
Molecular function for FAM83D Gene
- UniProtKB/Swiss-Prot Function:
- Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during mitosis.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 24344117 |
| GO:0008017 | microtubule binding | IDA | 18485706 |
| GO:0019894 | kinesin binding | IPI | 18485706 |
| GO:0019901 | protein kinase binding | IPI | 24736947 |
Phenotypes for FAM83D Gene
- GenomeRNAi human phenotypes for FAM83D:
-
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor)
- Increased virus production
Animal Model Products
-
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-
ViGene Biosciences lentiviral particle packaged cDNA for FAM83D gene
-
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CRISPR Products
-
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-
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miRNA for FAM83D Gene
- miRTarBase miRNAs that target FAM83D
-
- hsa-mir-124-3p (MIRT022620)
- hsa-mir-215-5p (MIRT024511)
- hsa-mir-192-5p (MIRT026481)
- hsa-mir-19a-3p (MIRT153283)
- hsa-mir-19b-3p (MIRT153284)
- hsa-mir-106b-5p (MIRT440673)
- hsa-mir-20a-5p (MIRT440674)
- hsa-mir-6805-3p (MIRT523771)
- hsa-mir-5691 (MIRT523772)
- hsa-mir-7151-3p (MIRT523773)
- hsa-mir-5095 (MIRT523774)
- hsa-mir-6741-3p (MIRT523775)
- hsa-mir-1292-3p (MIRT523776)
- hsa-mir-6504-3p (MIRT523777)
- hsa-mir-4438 (MIRT523778)
- hsa-mir-4507 (MIRT658334)
- hsa-mir-6839-3p (MIRT658335)
- hsa-mir-4284 (MIRT658336)
- hsa-mir-3940-5p (MIRT658337)
- hsa-mir-6781-3p (MIRT658338)
- hsa-mir-2682-3p (MIRT658339)
- hsa-mir-6774-5p (MIRT658340)
- hsa-mir-635 (MIRT658341)
- hsa-mir-2276-3p (MIRT658342)
- hsa-mir-1304-3p (MIRT658343)
- hsa-mir-4485-5p (MIRT658344)
- hsa-mir-6890-3p (MIRT658345)
- hsa-mir-519d-3p (MIRT727692)
- hsa-mir-93-5p (MIRT727693)
- hsa-mir-20b-5p (MIRT727694)
- hsa-mir-17-5p (MIRT727695)
miRNA Products
- Search ViGene Biosciences for FAM83D
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for FAM83D
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Clone Products
-
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Cell Line Products
-
Horizon Cell Lines for FAM83D
-
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-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83D Gene
Localization for FAM83D Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAM83D Gene
- Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Primarily cytoplasmic during interphase, but at prophase, associates with spindle microtubules, with a clear concentration toward the spindle poles. It persists on spindle microtubules through metaphase and anaphase. {ECO:0000269 PubMed:18485706}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 18485706 |
| GO:0005819 | spindle | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0097431 | mitotic spindle pole | IDA | 15561729 |
Pathways & Interactions for FAM83D Gene
Interacting Proteins for FAM83D Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001837 | epithelial to mesenchymal transition | IDA | 24344117 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007067 | mitotic nuclear division | IEA | -- |
| GO:0008283 | cell proliferation | IDA | 24344117 |
| GO:0016477 | cell migration | IDA | 24344117 |
No data available for Pathways by source and SIGNOR curated interactions for FAM83D Gene
Transcripts for FAM83D Gene
mRNA/cDNA for FAM83D Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (353) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAM83D Gene
CRISPR Products
-
OriGene CRISPR knockouts for FAM83D
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM83D
- GenScript: Design CRISPR guide RNA sequences for FAM83D
miRNA Products
- Search ViGene Biosciences for FAM83D
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for FAM83D
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-
ViGene Biosciences ready-to-package AAV shRNAs for FAM83D gene
Clone Products
-
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Flow Cytometry Products
Expression for FAM83D Gene
mRNA differential expression in normal tissues according to GTEx for FAM83D Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM83D Gene
NURSA nuclear receptor signaling pathways regulating expression of FAM83D Gene:
FAM83DSOURCE GeneReport for Unigene cluster for FAM83D Gene:
Hs.726442Evidence on tissue expression from TISSUES for FAM83D Gene
- Kidney(4.1)
- Lung(4)
Primer Products
-
OriGene qPCR primer pairs for FAM83D
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83D Gene
Orthologs for FAM83D Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAM83D 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAM83D 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FAM83D 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FAM83D 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fam83d 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fam83d 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FAM83D 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAM83D 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FAM83D 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100496367 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33403 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fam83d 34 35 |
|
- Species where no ortholog for FAM83D was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 FAM83D Gene
Variants for FAM83D Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000368391 | -- | 38,932,608(+) | GTATC(A/T)GTTGA | intron-variant | |
| rs1000441971 | -- | 38,932,301(+) | GGATT(A/G)CTTGA | intron-variant | |
| rs1000623073 | -- | 38,926,252(+) | CCAAT(A/T)ACGCA | upstream-variant-2KB | |
| rs1000706218 | -- | 38,931,086(+) | CACTC(C/T)TAATC | intron-variant | |
| rs1000778200 | -- | 38,930,885(+) | CCTGC(C/G)TCAGC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3645792 | CNV | gain | 21293372 |
| esv3645793 | CNV | gain | 21293372 |
| esv3645794 | CNV | loss | 21293372 |
| esv3645795 | CNV | gain | 21293372 |
| esv3645796 | CNV | loss | 21293372 |
| esv3645797 | CNV | gain | 21293372 |
| esv3645798 | CNV | loss | 21293372 |
| nsv3374 | CNV | deletion | 18451855 |
Relevant External Links for FAM83D Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM83D
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83D Gene
Disorders for FAM83D Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kleine-levin hibernation syndrome |
|
|
Relevant External Links for FAM83D
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FAM83D
No data available for UniProtKB/Swiss-Prot and Genatlas for FAM83D Gene
Publications for FAM83D Gene
- The spindle protein CHICA mediates localization of the chromokinesin Kid to the mitotic spindle. (PMID: 18485706) Santamaria A. … Nigg E.A. (Curr. Biol. 2008) 2 3 4 64
- FAM83D activates the MEK/ERK signaling pathway and promotes cell proliferation in hepatocellular carcinoma. (PMID: 25646692) Wang D. … Li X.C. (Biochem. Biophys. Res. Commun. 2015) 3 4 64
- Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. (PMID: 24736947) Cipriano R. … Jackson M.W. (Mol. Cancer Res. 2014) 3 4 64
- FAM83D promotes cell proliferation and motility by downregulating tumor suppressor gene FBXW7. (PMID: 24344117) Wang Z. … Mao J.H. (Oncotarget 2013) 3 4 64
- Meta-analysis of the expression of the mitosis-related gene Fam83D. (PMID: 23205133) Varisli L. (Oncol Lett 2012) 2 3 64
Products for FAM83D Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for FAM83D gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FAM83D 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
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