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Aliases for ATXN7L2 Gene
Aliases for ATXN7L2 Gene
External Ids for ATXN7L2 Gene
- HGNC: 28713
- Entrez Gene: 127002
- Ensembl: ENSG00000162650
- UniProtKB: Q5T6C5
Previous GeneCards Identifiers for ATXN7L2 Gene
- GC01P109738
- GC01P110026
- GC01P107919
Summaries for ATXN7L2 Gene
GeneCards Summary for ATXN7L2 Gene
ATXN7L2 (Ataxin 7 Like 2) is a Protein Coding gene. An important paralog of this gene is ATXN7.
Additional gene information for ATXN7L2 Gene
- HGNC(28713)
- Entrez Gene(127002)
- Ensembl(ENSG00000162650)
- UniProtKB(Q5T6C5)
- Open Targets Platform(ENSG00000162650)
- Monarch Initiative
- Search for ATXN7L2 at DataMed
- Search for ATXN7L2 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN7L2 Gene
Genomics for ATXN7L2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATXN7L2 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 ATXN7L2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN7L2
- Top Transcription factor binding sites by QIAGEN in the ATXN7L2 gene promoter:
-
- E2F
- LyF-1
- NRSF form 1
- NRSF form 2
- Oct-B1
- oct-B2
Genomic Locations for ATXN7L2 Gene
Genomic Locations for ATXN7L2 Gene
- chr1:109,483,479-109,492,804
- (GRCh38/hg38)
- Size:
- 9,326 bases
- Orientation:
- Plus strand
- chr1:110,026,101-110,035,426
- (GRCh37/hg19)
- Size:
- 9,326 bases
- Orientation:
- Plus strand
Genomic View for ATXN7L2 Gene
Genes around ATXN7L2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
ATXN7L2 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 ATXN7L2 Gene
Proteins for ATXN7L2 Gene
-
Protein details for ATXN7L2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5T6C5-AT7L2_HUMAN
- Recommended name:
- Ataxin-7-like protein 2
- Protein Accession:
- Q5T6C5
Protein attributes for ATXN7L2 Gene
- Size:
- 722 amino acids
- Molecular mass:
- 77181 Da
- Quaternary structure:
- No Data Available
Protein Expression for ATXN7L2 Gene
Post-translational modifications for ATXN7L2 Gene
Other Protein References for ATXN7L2 Gene
Antibody Products
- G Biosciences Immunotag™ ATXN7L2 Antibody
- HUABIO Anti-ATXN7L2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATXN7L2
- Novus Biologicals Antibodies for ATXN7L2
- Invitrogen Antibodies for ATXN7L2 (AFLGC-ATXN7L2)
-
Biorbyt antibodies for ATXN7L2
-
Boster Bio Antibodies for ATXN7L2
- Sino Biological Antibodies for ATXN7L2
Protein Products
-
OriGene Purified Proteins for ATXN7L2
- Search Origene for MassSpec and Protein Over-expression Lysates for ATXN7L2
- Origene Custom Protein Services for ATXN7L2
No data available for DME Specific Peptides for ATXN7L2 Gene
Domains & Families for ATXN7L2 Gene
Gene Families for ATXN7L2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for ATXN7L2 Gene
- GenScript: Design optimal peptide antigens:
-
- Ataxin-7-like protein 2 (AT7L2_HUMAN)
- FLJ00381 protein (Q8NF21_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ATXN7L2 Gene
Function for ATXN7L2 Gene
Phenotypes From GWAS Catalog for ATXN7L2 Gene
Phenotypes for ATXN7L2 Gene
- MGI mutant phenotypes for ATXN7L2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ATXN7L2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN7L2 - Select products 50% OFF >
- * ATXN7L2 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 ATXN7L2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN7L2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN7L2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN7L2
- Browse OriGene Inhibitory RNA Products For ATXN7L2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN7L2
Clone Products
- Applied Biological Materials (abm): Clones for ATXN7L2 - Select products 50% OFF >
- * ATXN7L2 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 ATXN7L2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN7L2
Cell Line Products
-
Horizon Cell Lines for ATXN7L2
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATXN7L2 Gene
Localization for ATXN7L2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 3 |
- Cytosol (2)
- Nucleoli (2)
- Vesicles (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATXN7L2 Gene
Pathways & Interactions for ATXN7L2 Gene
Interacting Proteins for ATXN7L2 Gene
GPS-Prot Interaction Network for ATXN7L2
No data available for Pathways by source and SIGNOR curated interactions for ATXN7L2 Gene
Transcripts for ATXN7L2 Gene
mRNA/cDNA for ATXN7L2 Gene
- 4 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000463678 3022 nts (view in UCSC)
- ENST00000369870 2318 nts (view in UCSC)
- ENST00000497545 4375 nts (view in UCSC)
- ENST00000604728 726 nts (view in UCSC)
- ENST00000369869 1715 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN7L2 - Select products 50% OFF >
- * ATXN7L2 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 ATXN7L2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN7L2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN7L2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN7L2
- Browse OriGene Inhibitory RNA Products For ATXN7L2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN7L2
Clone Products
- Applied Biological Materials (abm): Clones for ATXN7L2 - Select products 50% OFF >
- * ATXN7L2 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 ATXN7L2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN7L2
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||
| SP6: |
Relevant External Links for ATXN7L2 Gene
- GeneLoc Exon Structure for
- ATXN7L2
Expression for ATXN7L2 Gene
mRNA differential expression in normal tissues according to GTEx for ATXN7L2 Gene
This gene is overexpressed in Muscle - Skeletal (x4.4).
This gene is overexpressed in Bone (41.0), Pancreatic juice (14.0), and Heart (12.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATXN7L2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN7L2
SOURCE GeneReport for Unigene cluster for ATXN7L2 Gene:
Hs.118248Primer Products
-
OriGene qPCR primer pairs for ATXN7L2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN7L2 Gene
Orthologs for ATXN7L2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATXN7L2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATXN7L2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATXN7L2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atxn7l2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Atxn7l2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ATXN7L2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN7L2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATXN7L2 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | atxn7l2a 30 31 |
|
OneToMany | |
| atxn7l2b 31 |
|
OneToMany | |||
| wufi32b11 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ATXN7L2 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)
- Chicken (Gallus gallus)
- 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 Vase (Ciona intestinalis)
- 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)
Evolution for ATXN7L2 Gene
- ENSEMBL:
- Gene Tree for ATXN7L2 (if available)
- TreeFam:
- Gene Tree for ATXN7L2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATXN7L2: view image
Paralogs for ATXN7L2 Gene
Variants for ATXN7L2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN7L2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1149172 | - | p.Pro495Ser |
Residual Variation Intolerance Score:
11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.82;
58.52% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATXN7L2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ATXN7L2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATXN7L2 Gene
Disorders for ATXN7L2 Gene
Additional Disease Information for ATXN7L2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No disorders were found for ATXN7L2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATXN7L2 Gene
Publications for ATXN7L2 Gene
- Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
ExternalLinks
Products for ATXN7L2 Gene
- Custom Antibody ServicesOriGene Antibodies for ATXN7L2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ATXN7L2
- Search Origene for MassSpec and Protein Over-expression Lysates for ATXN7L2
- Origene Custom Protein Services for ATXN7L2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN7L2
- Browse OriGene Inhibitory RNA Products For ATXN7L2
- OriGene qPCR primer pairs for ATXN7L2
- OriGene CRISPR knockouts for ATXN7L2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATXN7L2
- Sino Biological Human cDNA Clone for ATXN7L2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for ATXN7L2
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ATXN7L2
- Novus Biologicals proteins and lysates for ATXN7L2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for ATXN7L2 (AFLGC-ATXN7L2)
- VectorBuilder Custom and pre-made DNA vectors for ATXN7L2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ATXN7L2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ATXN7L2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ATXN7L2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ATXN7L2
- antibodies-online: Show 14 available ATXN7L2 Antibodies ranked by validation data
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- antibodies-online: Search results for available ATXN7L2 related products ranked by validation data
- antibodies-online: Search results for available ATXN7L2 related products ranked by validation data
- Horizon Cell Lines for ATXN7L2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN7L2
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- Boster Bio Antibodies for ATXN7L2
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- Biorbyt antibodies for ATXN7L2
Sources for ATXN7L2 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
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (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
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
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- (122) ENCODE
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- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (170) snOPY
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- (175) Open Targets Platform
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- (177) snoDB
- (178) MirGeneDB