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Aliases for KIAA1755 Gene
External Ids for KIAA1755 Gene
- HGNC: 29372
- Entrez Gene: 85449
- Ensembl: ENSG00000149633
- UniProtKB: Q5JYT7
Previous GeneCards Identifiers for KIAA1755 Gene
- GC20M036567
- GC20M037479
- GC20M037524
- GC20M036272
- GC20M036838
- GC20M033575
Summaries for KIAA1755 Gene
GeneCards Summary for KIAA1755 Gene
KIAA1755 (KIAA1755) is a Protein Coding gene. Diseases associated with KIAA1755 include Meckel Syndrome, Type 1. An important paralog of this gene is ARHGEF40.
Additional gene information for KIAA1755 Gene
- HGNC(29372)
- Entrez Gene(85449)
- Ensembl(ENSG00000149633)
- UniProtKB(Q5JYT7)
- Open Targets Platform(ENSG00000149633)
- Monarch Initiative
- Search for KIAA1755 at DataMed
- Search for KIAA1755 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 KIAA1755 Gene
Genomics for KIAA1755 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KIAA1755 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 KIAA1755 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA1755
- Top Transcription factor binding sites by QIAGEN in the KIAA1755 gene promoter:
-
- FOXD3
- HNF-3beta
- IRF-2
- Olf-1
- p53
- STAT5A
- TBP
- TFIID
- Zic1
- ZIC2
Genomic Locations for KIAA1755 Gene
Genomic Locations for KIAA1755 Gene
- chr20:38,210,503-38,260,772
- (GRCh38/hg38)
- Size:
- 50,270 bases
- Orientation:
- Minus strand
- chr20:36,838,890-36,889,174
- (GRCh37/hg19)
- Size:
- 50,285 bases
- Orientation:
- Minus strand
Genomic View for KIAA1755 Gene
Genes around KIAA1755 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.23 by HGNC
- 20q11.23 by Entrez Gene
- 20q11.23 by Ensembl
KIAA1755 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 KIAA1755 Gene
Proteins for KIAA1755 Gene
-
Protein details for KIAA1755 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5JYT7-K1755_HUMAN
- Recommended name:
- Uncharacterized protein KIAA1755
- Protein Accession:
- Q5JYT7
- Q9C0A8
Protein attributes for KIAA1755 Gene
- Size:
- 1200 amino acids
- Molecular mass:
- 130846 Da
- Quaternary structure:
- No Data Available
Protein Expression for KIAA1755 Gene
Post-translational modifications for KIAA1755 Gene
Other Protein References for KIAA1755 Gene
Antibody Products
- Creative Diagnostics Anti-KIAA1755 (aa 725-805) polyclonal antibody
- Novus Biologicals Antibodies for KIAA1755
- Invitrogen Antibodies for KIAA1755 (AFLGC-KIAA1755)
- Sino Biological Antibodies for KIAA1755
Protein Products
-
OriGene Purified Proteins for KIAA1755
- Search Origene for MassSpec and Protein Over-expression Lysates for KIAA1755
- Origene Custom Protein Services for KIAA1755
- Novus Biologicals proteins for KIAA1755
No data available for DME Specific Peptides for KIAA1755 Gene
Domains & Families for KIAA1755 Gene
Gene Families for KIAA1755 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KIAA1755 Gene
- ProtoNet:
Suggested Antigen Peptide Sequences for KIAA1755 Gene
- GenScript: Design optimal peptide antigens:
-
- Novel protein (Q5JYT8_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA1755 Gene
Function for KIAA1755 Gene
Phenotypes From GWAS Catalog for KIAA1755 Gene
Phenotypes for KIAA1755 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KIAA1755 - Select products 50% OFF >
- * KIAA1755 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for KIAA1755
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIAA1755
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA1755
miRNA for KIAA1755 Gene
- miRTarBase miRNAs that target KIAA1755
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for KIAA1755 - Select products 50% OFF >
- * KIAA1755 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene ORF clones in human for KIAA1755
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- Sino Biological Human cDNA Clone for KIAA1755
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIAA1755
Cell Line Products
-
Horizon Cell Lines for KIAA1755
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1755 Gene
Localization for KIAA1755 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 0 |
| mitochondrion | 0 |
| peroxisome | 0 |
- Golgi apparatus (2)
- Nucleoli (2)
- Vesicles (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KIAA1755 Gene
Pathways & Interactions for KIAA1755 Gene
Interacting Proteins for KIAA1755 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| ENSG00000272822 | ||
| ABL1 | ||
| ABL2 | ||
| AGAP1 | ||
| AGAP3 |
GPS-Prot Interaction Network for KIAA1755
No data available for Pathways by source and SIGNOR curated interactions for KIAA1755 Gene
Transcripts for KIAA1755 Gene
mRNA/cDNA for KIAA1755 Gene
- 2 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000279024 6377 nts (view in UCSC)
- ENST00000435901 798 nts (view in UCSC)
- ENST00000460881 2349 nts (view in UCSC)
- ENST00000484362 2452 nts (view in UCSC)
- ENST00000487506 2121 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KIAA1755 - Select products 50% OFF >
- * KIAA1755 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 KIAA1755
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIAA1755
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA1755
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIAA1755
- Browse OriGene Inhibitory RNA Products For KIAA1755
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1755
Clone Products
- Applied Biological Materials (abm): Clones for KIAA1755 - Select products 50% OFF >
- * KIAA1755 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
-
OriGene ORF clones in human for KIAA1755
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KIAA1755
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIAA1755
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | - | - |
Relevant External Links for KIAA1755 Gene
- GeneLoc Exon Structure for
- KIAA1755
Expression for KIAA1755 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Umbilical Cord (Extraembryonic Tissues)
This gene is overexpressed in Breast (30.9), Lung (20.9), and Fetal Brain (17.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIAA1755 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA1755
SOURCE GeneReport for Unigene cluster for KIAA1755 Gene:
Hs.472690Evidence on tissue expression from TISSUES for KIAA1755 Gene
- Nervous system(2.6)
Primer Products
-
OriGene qPCR primer pairs for KIAA1755
Gene Expression Assay Products
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 KIAA1755 Gene
Orthologs for KIAA1755 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KIAA1755 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KIAA1755 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KIAA1755 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | D630003M21Rik 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | RGD1563354 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | KIAA1755 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KIAA1755 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KIAA1755 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-65j6.2 31 |
|
OneToMany | |
| quo 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG33275 31 |
|
ManyToMany | |
| CG30456 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for KIAA1755 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)
- 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)
- Platypus (Ornithorhynchus anatinus)
- 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 KIAA1755 Gene
- ENSEMBL:
- Gene Tree for KIAA1755 (if available)
- TreeFam:
- Gene Tree for KIAA1755 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KIAA1755: view image
Paralogs for KIAA1755 Gene
Paralogs for KIAA1755 Gene
(1) SIMAP similar genes for KIAA1755 Gene using alignment to 2 proteins:
- K1755_HUMAN
- Q5JYT8_HUMAN
Variants for KIAA1755 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA1755 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 786678 | Benign: not provided | 38,213,437(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
| 786679 | Benign: not provided | 38,240,983(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
| rs193920749 | Uncertain Significance: Malignant tumor of prostate | 38,213,556(-) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| rs1205434 | - | p.Lys339Asn | |||
| rs16987188 | - | p.Ala633Val |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4308n100 | CNV | gain | 25217958 |
| esv2763659 | CNV | gain | 21179565 |
| nsv585963 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
19.15;
98.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KIAA1755 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1755 Gene
Disorders for KIAA1755 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meckel syndrome, type 1 |
|
|
Search KIAA1755 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KIAA1755
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1755 Gene
Publications for KIAA1755 Gene
- Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
- 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
- Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. (PMID: 23583979) den Hoed M … Loos RJ (Nature genetics 2013) 3
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3
- 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) 3
ExternalLinks
Products for KIAA1755 Gene
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- Custom Antibody Services
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- Custom Assay Services
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- Origene Custom Protein Services for KIAA1755
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- Sino Biological Antibodies for KIAA1755
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- High-throughput Antibody Production Service
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- Novus Biologicals Antibodies for KIAA1755
- Novus Biologicals proteins for KIAA1755
- Browse Antibodies
- Browse Peptides and Proteins
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- Invitrogen Antibodies for KIAA1755 (AFLGC-KIAA1755)
- VectorBuilder Custom and pre-made DNA vectors for KIAA1755 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for KIAA1755 (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Stable cell line generation for KIAA1755
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Sources for KIAA1755 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
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (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
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (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
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (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
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB