Aliases for HEATR1 Gene
Aliases for HEATR1 Gene
External Ids for HEATR1 Gene
- HGNC: 25517
- Entrez Gene: 55127
- Ensembl: ENSG00000119285
- UniProtKB: Q9H583
Previous GeneCards Identifiers for HEATR1 Gene
- GC01M233039
- GC01M234778
- GC01M236712
- GC01M207169
Summaries for HEATR1 Gene
GeneCards Summary for HEATR1 Gene
HEATR1 (HEAT Repeat Containing 1) is a Protein Coding gene. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and snoRNA binding.
UniProtKB/Swiss-Prot for HEATR1 Gene
-
Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis (By similarity).
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEATR1 Gene
Genomics for HEATR1 Gene
Regulatory Elements for HEATR1 Gene
Regulatory Element Products
Genomic Location for HEATR1 Gene
- Chromosome:
- 1
- Start:
- 236,536,173 bp from pter
- End:
- 236,604,541 bp from pter
- Size:
- 68,369 bases
- Orientation:
- Minus strand
Genomic View for HEATR1 Gene
- Cytogenetic band:
-
- 1q43 by Ensembl
- 1q43 by Entrez Gene
- 1q43 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HEATR1 Gene
Proteins for HEATR1 Gene
-
Protein details for HEATR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H583-HEAT1_HUMAN
- Recommended name:
- HEAT repeat-containing protein 1
- Protein Accession:
- Q9H583
- Q5T3Q8
- Q6P197
- Q9NW23
Protein attributes for HEATR1 Gene
- Size:
- 2144 amino acids
- Molecular mass:
- 242370 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA91564.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for HEATR1 Gene
Selected DME Specific Peptides for HEATR1 Gene
- Q9H583:
-
- ALQKVVE
- FLAELME
Post-translational modifications for HEATR1 Gene
Other Protein References for HEATR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HEATR1
- Invitrogen Antibodies for HEATR1
- antibodies-online Antibodies for HEATR1: See all 15
- Search GeneTex for Antibodies for HEATR1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HEATR1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HEATR1
- Origene Custom Protein Services for HEATR1
- Novus Biologicals proteins for HEATR1
- Search GeneTex for Proteins for HEATR1
Assay Products
Domains & Families for HEATR1 Gene
Gene Families for HEATR1 Gene
Protein Domains for HEATR1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HEATR1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H583- Family:
-
- Belongs to the HEATR1/UTP10 family.
Function for HEATR1 Gene
Molecular function for HEATR1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis (By similarity).
Enzyme Numbers (IUBMB) for HEATR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IDA | 22658674 |
| GO:0005515 | protein binding | IPI | 22190034 |
| GO:0030515 | snoRNA binding | IBA | -- |
Phenotypes for HEATR1 Gene
- GenomeRNAi human phenotypes for HEATR1:
-
- Decreased viability
- Synthetic lethal with Ras
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Dynamic nuclei (hole, folded or small irregular)
- Decreased p24 protein expression
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased viability of wild-type and TP53 knockout cells
- Nuclear 40S maturation defects
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HEATR1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR1 gene
- Search ViGene Biosciences for HEATR1
CRISPR Products
-
OriGene CRISPR knockouts for HEATR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEATR1
- GenScript: Design CRISPR guide RNA sequences for HEATR1
miRNA for HEATR1 Gene
- miRTarBase miRNAs that target HEATR1
miRNA Products
- Search ViGene Biosciences for HEATR1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HEATR1
- Browse OriGene Inhibitory RNA Products For HEATR1
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR1 gene
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for HEATR1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HEATR1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR1 gene
Flow Cytometry Products
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HEATR1 Gene
Localization for HEATR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HEATR1 Gene
- Nucleus, nucleolus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA,IEA | 17699751 |
| GO:0005739 | mitochondrion | IDA | -- |
Pathways & Interactions for HEATR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | rRNA processing in the nucleus and cytosol |
.89
|
|
| 2 | Ribosome biogenesis in eukaryotes | ||
| 3 | Gene Expression |
.48
|
|
Pathways by source for HEATR1 Gene
1 KEGG pathway for HEATR1 Gene
Interacting Proteins for HEATR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000462 | maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | IBA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006364 | rRNA processing | TAS | -- |
| GO:0042254 | ribosome biogenesis | IEA | -- |
| GO:0045943 | positive regulation of transcription from RNA polymerase I promoter | IBA,IMP | 17699751 |
No data available for SIGNOR curated interactions for HEATR1 Gene
Transcripts for HEATR1 Gene
mRNA/cDNA for HEATR1 Gene
- (1) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (240) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HEATR1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HEATR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEATR1
- GenScript: Design CRISPR guide RNA sequences for HEATR1
miRNA Products
- Search ViGene Biosciences for HEATR1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HEATR1
- Browse OriGene Inhibitory RNA Products For HEATR1
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR1 gene
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 20b | ^ | 21a | · | 21b | ^ | 22a | · | 22b | · | 22c | ^ | 23a | · | 23b | · | 23c | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 39b | ^ | 40 | ^ | 41a | · | 41b | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | |||||||||||||||
| SP3: | |||||||||||||||
| SP4: | |||||||||||||||
| SP5: | |||||||||||||||
| SP6: | |||||||||||||||
| SP7: | |||||||||||||||
| SP8: | |||||||||||||||
| SP9: | |||||||||||||||
| SP10: | |||||||||||||||
| SP11: |
Expression for HEATR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
-
Testis (Reproductive System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEATR1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HEATR1 Gene:
HEATR1SOURCE GeneReport for Unigene cluster for HEATR1 Gene:
Hs.708114Evidence on tissue expression from TISSUES for HEATR1 Gene
- Nervous system(2.4)
Primer Products
-
OriGene qPCR primer pairs for HEATR1
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR1 Gene
Orthologs for HEATR1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEATR1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HEATR1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HEATR1 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Heatr1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Heatr1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HEATR1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | HEATR1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HEATR1 35 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3516 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100151449 34 |
|
||
| heatr1 35 35 |
|
OneToMany | |||
| wufi69e12 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | l(2)k09022 35 34 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009004 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | toe-1 35 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UTP10 35 37 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G06530 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2925 34 |
|
- Species where no ortholog for HEATR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for HEATR1 Gene
No data available for Paralogs for HEATR1 Gene
Variants for HEATR1 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000014641 | -- | 236,569,603(+) | TCACA(C/T)CCACT | intron-variant | |
| rs1000020618 | -- | 236,594,360(+) | CATGC(C/T)TATAA | intron-variant | |
| rs1000023963 | -- | 236,571,054(+) | ATTAG(A/C)TAGAT | intron-variant | |
| rs1000219782 | -- | 236,605,757(+) | TCAAG(A/T)CTTTC | upstream-variant-2KB | |
| rs1000631586 | -- | 236,577,575(+) | CCTCT(G/T)CCTCC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv591n100 | CNV | gain | 25217958 |
| dgv60n27 | CNV | gain | 19166990 |
| esv2002103 | CNV | deletion | 18987734 |
| esv2725451 | CNV | deletion | 23290073 |
| esv2762227 | CNV | gain | 21179565 |
| esv2763410 | CNV | gain | 21179565 |
| esv3589222 | CNV | gain | 21293372 |
| esv995705 | CNV | gain | 20482838 |
| nsv1005877 | CNV | gain | 25217958 |
| nsv1012436 | CNV | loss | 25217958 |
| nsv516855 | CNV | gain | 19592680 |
| nsv549394 | CNV | gain | 21841781 |
| nsv549403 | CNV | gain | 21841781 |
| nsv998009 | CNV | gain | 25217958 |
Relevant External Links for HEATR1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HEATR1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR1 Gene
Disorders for HEATR1 Gene
Relevant External Links for HEATR1
No disorders were found for HEATR1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEATR1 Gene
Publications for HEATR1 Gene
- Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. (PMID: 17699751) Prieto J.L. … McStay B. (Genes Dev. 2007) 2 3 64
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 2002) 3 4 64
- Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64
Products for HEATR1 Gene
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- OriGene qPCR primer pairs for HEATR1
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- GenScript: Design CRISPR guide RNA sequences for HEATR1
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for HEATR1
- Novus Biologicals proteins for HEATR1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ViGene Biosciences adenoviral particle packaged cDNA for HEATR1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HEATR1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HEATR1 gene
- Search ViGene Biosciences for HEATR1
- Santa Cruz Biotechnology (SCBT) Antibodies for HEATR1
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- VectorBuilder custom plasmid, inducible vectors for HEATR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HEATR1
- VectorBuilder Other custom vectors
- 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 HEATR1 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
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- (24) DrugBank
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- (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
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- (62) NCBI
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- (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)
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- (84) DISEASES
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- (100) COMPARTMENTS
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- (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




