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Aliases for ANKRD54 Gene
Aliases for ANKRD54 Gene
External Ids for ANKRD54 Gene
- HGNC: 25185
- Entrez Gene: 129138
- Ensembl: ENSG00000100124
- OMIM: 613383
- UniProtKB: Q6NXT1
Previous GeneCards Identifiers for ANKRD54 Gene
- GC22M036556
- GC22M038226
- GC22M021193
- GC22M038388
- GC22M038510
- GC22M042803
- GC22M042918
- GC22M042988
- GC22M044614
- GC22M038821
- GC22M039958
- GC22M040650
- GC22M041098
- GC22M041500
- GC22M041911
- GC22M042352
- GC22M042689
Summaries for ANKRD54 Gene
GeneCards Summary for ANKRD54 Gene
ANKRD54 (Ankyrin Repeat Domain 54) is a Protein Coding gene. Diseases associated with ANKRD54 include Neurotic Excoriation and Factitious Disorder. Gene Ontology (GO) annotations related to this gene include protein kinase regulator activity. An important paralog of this gene is ANKRD61.
UniProtKB/Swiss-Prot Summary for ANKRD54 Gene
-
Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.
Additional gene information for ANKRD54 Gene
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD54 Gene
Genomics for ANKRD54 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ANKRD54 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 ANKRD54 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD54
- Top Transcription factor binding sites by QIAGEN in the ANKRD54 gene promoter:
-
- CBF(2)
- CBF-A
- CBF-B
- CBF-C
- CP1A
- CP1C
- NF-Y
- NF-YA
- NF-YC
- Pax-5
Genomic Locations for ANKRD54 Gene
Genomic Locations for ANKRD54 Gene
- chr22:37,830,853-37,849,327
- (GRCh38/hg38)
- Size:
- 18,475 bases
- Orientation:
- Minus strand
- chr22:38,226,862-38,245,334
- (GRCh37/hg19)
- Size:
- 18,473 bases
- Orientation:
- Minus strand
Genomic View for ANKRD54 Gene
Genes around ANKRD54 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.1 by HGNC
- 22q13.1 by Entrez Gene
- 22q13.1 by Ensembl
ANKRD54 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 ANKRD54 Gene
Proteins for ANKRD54 Gene
-
Protein details for ANKRD54 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6NXT1-ANR54_HUMAN
- Recommended name:
- Ankyrin repeat domain-containing protein 54
- Protein Accession:
- Q6NXT1
- Q6ZSB1
- Q9UGV1
Protein attributes for ANKRD54 Gene
- Size:
- 300 amino acids
- Molecular mass:
- 32505 Da
- Quaternary structure:
-
- Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of LYN. Forms a multiprotein complex with LYN and HCLS1. Interacts with TSN2, VAV1, DBNL AND LASP1.
Protein Expression for ANKRD54 Gene
Post-translational modifications for ANKRD54 Gene
Other Protein References for ANKRD54 Gene
Antibody Products
- Creative Diagnostics Rabbit Anti-Human ANKRD54 Polyclonal antibody
-
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- Invitrogen Antibodies for ANKRD54 (AFLGC-ANKRD54)
-
Boster Bio Antibodies for ANKRD54
-
Custom Antibody ServicesProSci Antibodies for ANKRD54
Protein Products
-
OriGene Purified Proteins for ANKRD54
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- ProSpec Recombinant Proteins for ANKRD54
- antibodies-online: Show 8 available ANKRD54 Proteins ranked by validation data
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-
Quality Products:
-
Signalway Proteins for ANKRD54
-
Abcam proteins for ANKRD54
No data available for DME Specific Peptides for ANKRD54 Gene
Domains & Families for ANKRD54 Gene
Gene Families for ANKRD54 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ANKRD54 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD54 Gene
- GenScript: Design optimal peptide antigens:
-
- Ankyrin repeat domain-containing protein 54 (ANR54_HUMAN)
- Ankyrin repeat domain 54 (B2REA2_HUMAN)
- Ankyrin repeat domain 54 (B2REA3_HUMAN)
- Ankyrin repeat domain 54 (E2QC22_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD54 Gene
Function for ANKRD54 Gene
Molecular function for ANKRD54 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.
Phenotypes From GWAS Catalog for ANKRD54 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 25416956 |
| GO:0019887 | protein kinase regulator activity | IEA,IBA | 21873635 |
| GO:0044877 | protein-containing complex binding | IEA | -- |
Phenotypes for ANKRD54 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ANKRD54 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD54
miRNA for ANKRD54 Gene
- miRTarBase miRNAs that target ANKRD54
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for ANKRD54
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Cell Line Products
-
Horizon Cell Lines for ANKRD54
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD54 Gene
Localization for ANKRD54 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKRD54 Gene
- Nucleus. Cytoplasm. Midbody. Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Microtubules (2)
- Midbody (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,ISS | -- |
| GO:0005737 | cytoplasm | IBA,ISS | -- |
| GO:0030496 | midbody | ISS | -- |
Pathways & Interactions for ANKRD54 Gene
Interacting Proteins for ANKRD54 Gene
Selected Interacting proteins:
Q6NXT1-ANR54_HUMAN
ENSP00000215941
for ANKRD54 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ANKRD54
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006913 | nucleocytoplasmic transport | IEA | -- |
| GO:0045648 | positive regulation of erythrocyte differentiation | IEA,ISS | -- |
| GO:0045859 | regulation of protein kinase activity | IBA | 21873635 |
| GO:1902531 | regulation of intracellular signal transduction | IEA,ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for ANKRD54 Gene
Transcripts for ANKRD54 Gene
mRNA/cDNA for ANKRD54 Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000215941 2087 nts (view in UCSC)
- ENST00000498417 2403 nts (view in UCSC)
- ENST00000406423 954 nts (view in UCSC)
- ENST00000609454 825 nts (view in UCSC)
- ENST00000411961 946 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ANKRD54 - Select products 50% OFF >
- * ANKRD54 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 ANKRD54
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD54
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ANKRD54
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Clone Products
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- Sino Biological Human cDNA Clone for ANKRD54
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| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | · | 10d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||
| SP9: |
Relevant External Links for ANKRD54 Gene
- GeneLoc Exon Structure for
- ANKRD54
Expression for ANKRD54 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
This gene is overexpressed in Adrenal (40.4) and Bone (8.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD54 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD54
SOURCE GeneReport for Unigene cluster for ANKRD54 Gene:
Hs.135259Evidence on tissue expression from TISSUES for ANKRD54 Gene
- Nervous system(4.7)
- Liver(4.2)
- Skin(2.3)
- Blood(2.3)
Primer Products
-
OriGene qPCR primer pairs for ANKRD54
-
OriGene qPCR primer pairs and template standards for ANKRD54
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 ANKRD54 Gene
Orthologs for ANKRD54 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ANKRD54 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ANKRD54 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ANKRD54 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ankrd54 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ankrd54 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD54 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ANKRD54 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ANKRD54 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ankrd54 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4216 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ankrd54 30 31 |
|
OneToOne | |
| wufi33d09 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10527 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10809 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NAS6 31 |
|
OneToMany |
- Species where no ortholog for ANKRD54 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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)
Evolution for ANKRD54 Gene
- ENSEMBL:
- Gene Tree for ANKRD54 (if available)
- TreeFam:
- Gene Tree for ANKRD54 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ANKRD54: view image
Paralogs for ANKRD54 Gene
(38) SIMAP similar genes for ANKRD54 Gene using alignment to 9 proteins:
- ANR54_HUMAN
- B5MCX7_HUMAN
- C9JU48_HUMAN
- C9JX82_HUMAN
- D3YTC9_HUMAN
- F8WB76_HUMAN
- H7BZV9_HUMAN
- H7C3L3_HUMAN
- V9GYU2_HUMAN
Pseudogenes.org Pseudogenes for ANKRD54 Gene
Variants for ANKRD54 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD54 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 778948 | Benign: not provided | 37,833,744(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2666189 | CNV | deletion | 23128226 |
| esv2758838 | CNV | loss | 17122850 |
| esv3647720 | CNV | loss | 21293372 |
| esv3893482 | CNV | gain | 25118596 |
| nsv966109 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.78;
16.48% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ANKRD54 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ANKRD54
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD54 Gene
Disorders for ANKRD54 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurotic excoriation |
|
|
| factitious disorder |
|
|
| bestiality |
|
|
Search ANKRD54 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ANKRD54
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD54 Gene
Publications for ANKRD54 Gene
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 2 3 4
- Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). (PMID: 22527282) Gustafsson MO … Nore BF (Molecular and cellular biology 2012) 2 3
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4
ExternalLinks
Products for ANKRD54 Gene
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- antibodies-online: Show 5 available ANKRD54 Antibodies ranked by validation data
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- antibodies-online: Show 8 available ANKRD54 Proteins ranked by validation data
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- Quality Products:
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- Search for ANKRD54 Proteins at ProSci
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Sources for ANKRD54 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