Aliases for SHQ1 Gene
Aliases for SHQ1 Gene
External Ids for SHQ1 Gene
- HGNC: 25543
- Entrez Gene: 55164
- Ensembl: ENSG00000144736
- OMIM: 613663
- UniProtKB: Q6PI26
Previous GeneCards Identifiers for SHQ1 Gene
- GC03M072883
Summaries for SHQ1 Gene
-
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
GeneCards Summary for SHQ1 Gene
SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor) is a Protein Coding gene.
UniProtKB/Swiss-Prot for SHQ1 Gene
-
Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHQ1 Gene
Genomics for SHQ1 Gene
Regulatory Elements for SHQ1 Gene
Enhancers for SHQ1 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 |
|---|---|---|---|---|---|---|---|---|
| GH03G072273 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 12.4 | +587.4 | 587402 | 2.7 | ATF1 CREB3L1 YY1 ZNF766 GATA2 ELK1 CBX5 ZNF548 KLF13 CAVIN1 | SHQ1 RYBP EBLN2 LINC00877 ENSG00000242618 |
| GH03G072886 | 1.7 | FANTOM5 ENCODE dbSUPER | 12 | -28.0 | -27997 | 6.9 | PKNOX1 ARNT CREB3L1 ZFP64 SIN3A ARID4B DMAP1 FEZF1 ZNF2 YY1 | SHQ1 GXYLT2 RYBP EBLN2 LAPTM4BP2 ENSG00000276890 |
| GH03G072738 | 1.2 | Ensembl ENCODE | 16.2 | +122.4 | 122416 | 2.6 | HDAC1 PKNOX1 TCF12 SCRT2 FOS ZNF548 CREM USF2 KAT8 ZNF592 | SHQ1 EBLN2 RYBP GC03P072740 RNA5SP136 |
| GH03G072482 | 1.5 | FANTOM5 Ensembl ENCODE | 12.4 | +378.8 | 378812 | 1.2 | HDAC1 NFRKB FEZF1 RAD21 RARA RFX5 YY1 GLIS2 EGR1 FOS | RYBP SHQ1 RNU1-62P GC03P072480 ENSG00000244345 |
| GH03G072937 | 1.3 | Ensembl ENCODE | 11.1 | -76.9 | -76862 | 1.8 | HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 YY1 TCF12 ZNF766 GATA2 | GXYLT2 SHQ1 GC03M072929 PPP4R2 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SHQ1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for SHQ1 Gene
- Chromosome:
- 3
- Start:
- 72,749,277 bp from pter
- End:
- 72,861,914 bp from pter
- Size:
- 112,638 bases
- Orientation:
- Minus strand
Genomic View for SHQ1 Gene
Genes around SHQ1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p13 by Ensembl
- 3p13 by Entrez Gene
- 3p13 by HGNC
SHQ1 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 SHQ1 Gene
Proteins for SHQ1 Gene
-
Protein details for SHQ1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6PI26-SHQ1_HUMAN
- Recommended name:
- Protein SHQ1 homolog
- Protein Accession:
- Q6PI26
- B4DL05
- Q6MZJ4
- Q7Z748
- Q9H7E5
- Q9NVS8
Protein attributes for SHQ1 Gene
- Size:
- 577 amino acids
- Molecular mass:
- 65125 Da
- Quaternary structure:
-
- Directly interacts with DKC1 alone, but not in the context of the core trimer composed of DKC1, NOP10 and NHP2, nor in the presence of NAF1. Does not interact with NAF1.
- SequenceCaution:
-
- Sequence=BAA91669.1; Type=Frameshift; Positions=79; Evidence={ECO:0000305}; Sequence=BAB14947.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SHQ1 Gene
Post-translational modifications for SHQ1 Gene
Other Protein References for SHQ1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SHQ1
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- antibodies-online Antibodies for SHQ1: See all 30
- GeneTex SHQ1 antibody for SHQ1
-
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Protein Products
-
OriGene Purified Proteins for SHQ1
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- antibodies-online Proteins for SHQ1: See all 5
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- Search GeneTex for Proteins for SHQ1
Assay Products
No data available for DME Specific Peptides for SHQ1 Gene
Domains & Families for SHQ1 Gene
Protein Domains for SHQ1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SHQ1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6PI26- Family:
-
- Belongs to the SHQ1 family.
No data available for Gene Families for SHQ1 Gene
Function for SHQ1 Gene
Molecular function for SHQ1 Gene
- UniProtKB/Swiss-Prot Function:
- Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 19383767 |
| GO:0051082 | unfolded protein binding | IBA | -- |
Phenotypes for SHQ1 Gene
- GenomeRNAi human phenotypes for SHQ1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for SHQ1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SHQ1 gene
- Search ViGene Biosciences for SHQ1
CRISPR Products
-
OriGene CRISPR knockouts for SHQ1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SHQ1
- GenScript: Design CRISPR guide RNA sequences for SHQ1
miRNA for SHQ1 Gene
- miRTarBase miRNAs that target SHQ1
miRNA Products
- Search ViGene Biosciences for SHQ1
Inhibitory RNA Products
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-
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Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for SHQ1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SHQ1 gene
-
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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 SHQ1 Gene
Localization for SHQ1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SHQ1 Gene
- Cytoplasm, cytosol. Nucleus, nucleoplasm. Note=May at least partially shuttle between cytosol and nucleoplasm. In the nucleoplasm, exhibits a granular pattern, but is excluded from nucleoli and Cajal bodies. Absent from most H/ACA-box RNA transcription sites.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IEA,IDA | 19383767 |
| GO:0005730 | NOT nucleolus | IDA | 19383767 |
| GO:0005737 | cytoplasm | IEA,IDA | 19383767 |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for SHQ1 Gene
No Data Available
Interacting Proteins for SHQ1 Gene
Selected Interacting proteins:
ENSP00000315182
Q6PI26-SHQ1_HUMAN
for SHQ1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000493 | box H/ACA snoRNP assembly | IBA | -- |
| GO:0022618 | ribonucleoprotein complex assembly | IDA | 19383767 |
| GO:0043065 | positive regulation of apoptotic process | IDA | 20663920 |
| GO:1904874 | positive regulation of telomerase RNA localization to Cajal body | IMP | 25467444 |
| GO:2000233 | negative regulation of rRNA processing | IDA | 20663920 |
No data available for Pathways by source and SIGNOR curated interactions for SHQ1 Gene
Transcripts for SHQ1 Gene
mRNA/cDNA for SHQ1 Gene
- (7) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (114) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SHQ1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SHQ1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SHQ1
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miRNA Products
- Search ViGene Biosciences for SHQ1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SHQ1
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-
ViGene Biosciences ready-to-package AAV shRNAs for SHQ1 gene
Clone Products
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: |
Expression for SHQ1 Gene
This gene is overexpressed in Retina (47.8) and Monocytes (13.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SHQ1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SHQ1 Gene:
SHQ1SOURCE GeneReport for Unigene cluster for SHQ1 Gene:
Hs.606584Evidence on tissue expression from TISSUES for SHQ1 Gene
- Intestine(4.2)
- Skin(4.1)
Primer Products
-
OriGene qPCR primer pairs for SHQ1
-
OriGene qPCR primer pairs and template standards for SHQ1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHQ1 Gene
Orthologs for SHQ1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SHQ1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SHQ1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SHQ1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Shq1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Shq1 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SHQ1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SHQ1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SHQ1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SHQ1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | shq1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | shq1 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1634 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10055 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y48A5A.1 34 |
|
||
| Y48A5A.1 35 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SHQ1 34 35 37 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F03949g 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADL230C 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | shq1 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for SHQ1 was found in the sources mined by GeneCards:
-
- 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)
- 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)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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)
- wheat (Triticum aestivum)
Paralogs for SHQ1 Gene
Pseudogenes.org Pseudogenes for SHQ1 Gene
No data available for Paralogs for SHQ1 Gene
Variants for SHQ1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000078861 | -- | 72,827,290(+) | GGACA(C/T)ACAAG | intron-variant | |
| rs1000106925 | -- | 72,774,027(+) | AGATA(A/C/T)TCCAG | intron-variant | |
| rs1000120115 | -- | 72,816,943(+) | TGAGA(C/G)CTCAG | intron-variant | |
| rs1000124401 | -- | 72,843,185(+) | CTTAT(A/G)AAAAT | intron-variant | |
| rs1000127011 | -- | 72,731,758(+) | GGATA(C/T)GGCCT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659217 | CNV | deletion | 23128226 |
| esv2763278 | CNV | gain | 21179565 |
| esv3596547 | CNV | loss | 21293372 |
| nsv3873 | CNV | deletion | 18451855 |
| nsv3874 | CNV | insertion | 18451855 |
| nsv523229 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.36;
63.32% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SHQ1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SHQ1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHQ1 Gene
Disorders for SHQ1 Gene
Relevant External Links for SHQ1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- SHQ1
No disorders were found for SHQ1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SHQ1 Gene
Publications for SHQ1 Gene
- SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PMID: 19383767) Grozdanov P.N. … Meier U.T. (RNA 2009) 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
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
- Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1. (PMID: 25553844) Singh M. … Feigon J. (J. Mol. Biol. 2015) 3 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
Products for SHQ1 Gene
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- antibodies-online Antibodies for SHQ1: See all 30
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- antibodies-online Proteins for SHQ1: See all 5
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- GeneTex SHQ1 antibody for SHQ1
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- ViGene Biosciences adenoviral particle packaged cDNA for SHQ1 gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SHQ1 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
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- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (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