Aliases for CATSPER1 Gene
Aliases for CATSPER1 Gene
External Ids for CATSPER1 Gene
- HGNC: 17116
- Entrez Gene: 117144
- Ensembl: ENSG00000175294
- OMIM: 606389
- UniProtKB: Q8NEC5
Previous GeneCards Identifiers for CATSPER1 Gene
- GC11M068318
- GC11M067465
- GC11M065559
- GC11M065540
- GC11M065784
- GC11M062110
Summaries for CATSPER1 Gene
-
Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
GeneCards Summary for CATSPER1 Gene
CATSPER1 (Cation Channel Sperm Associated 1) is a Protein Coding gene. Diseases associated with CATSPER1 include Spermatogenic Failure 7 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Fertilization and Sweet Taste Signaling. GO annotations related to this gene include ion channel activity and calcium activated cation channel activity. An important paralog of this gene is CACNA1B.
UniProtKB/Swiss-Prot for CATSPER1 Gene
-
Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CATSPER1 Gene
Genomics for CATSPER1 Gene
Regulatory Elements for CATSPER1 Gene
Regulatory Element Products
Genomic Location for CATSPER1 Gene
- Chromosome:
- 11
- Start:
- 66,016,752 bp from pter
- End:
- 66,026,519 bp from pter
- Size:
- 9,768 bases
- Orientation:
- Minus strand
Genomic View for CATSPER1 Gene
- Cytogenetic band:
-
- 11q13.1 by Ensembl
- 11q13.1 by Entrez Gene
- 11q13.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CATSPER1 Gene
Proteins for CATSPER1 Gene
-
Protein details for CATSPER1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NEC5-CTSR1_HUMAN
- Recommended name:
- Cation channel sperm-associated protein 1
- Protein Accession:
- Q8NEC5
- Q96P76
Protein attributes for CATSPER1 Gene
- Size:
- 780 amino acids
- Molecular mass:
- 90091 Da
- Quaternary structure:
-
- Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER3 and CATSPER4 (By similarity). Interacts with Ca(v)3.3/CACNA1I, leading to suppress T-type calcium channel activity.
Post-translational modifications for CATSPER1 Gene
Other Protein References for CATSPER1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CATSPER1
-
Abcam antibodies for CATSPER1
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- GeneTex CATSPER1 antibody for CATSPER1
Protein Products
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-
Abcam proteins for CATSPER1
Assay Products
- antibodies-online Kits for CATSPER1: See all 3
No data available for DME Specific Peptides for CATSPER1 Gene
Domains & Families for CATSPER1 Gene
Gene Families for CATSPER1 Gene
- HGNC:
- IUPHAR :
Protein Domains for CATSPER1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CATSPER1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NEC5UniProtKB/Swiss-Prot:
CTSR1_HUMAN :- Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
- Family:
-
- Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
Function for CATSPER1 Gene
Molecular function for CATSPER1 Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed:21412338, PubMed:21412339, PubMed:26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed:26989199). Indirect activation by progesterone takes place via the following mechanism: progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed:26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed:21412338, PubMed:21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed:21412338, PubMed:21412339).
- UniProtKB/Swiss-Prot Function:
- Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated in patients lacking sperm motility.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005227 | calcium activated cation channel activity | IEA | -- |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005245 | voltage-gated calcium channel activity | IEA | -- |
| GO:0005262 | calcium channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for CATSPER1 Gene
- MGI mutant phenotypes for CATSPER1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CATSPER1:
Animal Models for CATSPER1 Gene
- MGI Knock Outs for CATSPER1:
-
- Catsper1 tm1Clph
Animal Model Products
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-
-
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-
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CRISPR Products
-
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-
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miRNA Products
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Inhibitory RNA Products
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-
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- 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
Cell Line Products
-
Horizon Cell Lines for CATSPER1
-
ViGene Biosciences adenoviral particle packaged cDNA for CATSPER1 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CATSPER1 Gene
Localization for CATSPER1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CATSPER1 Gene
- Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005929 | cilium | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031514 | motile cilium | IEA | -- |
Pathways & Interactions for CATSPER1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fertilization |
1.00
1.00
|
|
| 2 | Sweet Taste Signaling |
.37
|
|
Pathways by source for CATSPER1 Gene
3 Reactome pathways for CATSPER1 Gene
1 Qiagen pathway for CATSPER1 Gene
Interacting Proteins for CATSPER1 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| RGS20 | ||
| APOA2 | ||
| CACNA1I | ||
| CHIC2 | ||
| KRTAP10-11 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
No data available for SIGNOR curated interactions for CATSPER1 Gene
Drugs & Compounds for CATSPER1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Progesterone | Approved, Vet_approved | Pharma | Full agonist, Activator, inhibitor | Endogenous progesterone receptor agonist | 559 | |
| Mibefradil | Withdrawn | Pharma | Channel blocker, blocker | Calcium channel blocker | 3 | |
| NNC55-0396 | Pharma | Inhibition, Pore Blocker | 0 | |||
| PGE<sub>1</sub> | Pharma | Full agonist, Activator | 0 | |||
| PGE<sub>2</sub> | Pharma | Full agonist, Activator | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| HC056456 |
|
Channel blocker |
|
|
||
| PGF<sub>1alpha</sub> |
|
Full agonist, Activator |
|
Transcripts for CATSPER1 Gene
mRNA/cDNA for CATSPER1 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (29) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CATSPER1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CATSPER1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CATSPER1
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miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CATSPER1
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-
ViGene Biosciences ready-to-package AAV shRNAs for CATSPER1 gene
Clone Products
-
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CATSPER1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CATSPER1
-
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
Flow Cytometry Products
Expression for CATSPER1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- NULL (Uncategorized)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for CATSPER1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CATSPER1 Gene:
CATSPER1SOURCE GeneReport for Unigene cluster for CATSPER1 Gene:
Hs.189105mRNA Expression by UniProt/SwissProt for CATSPER1 Gene:
Q8NEC5-CTSR1_HUMANPhenotype-based relationships between genes and organs from Gene ORGANizer for CATSPER1 Gene
- mesoderm
- reproductive
- ovary
- testicle
Primer Products
-
OriGene qPCR primer pairs for CATSPER1
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for CATSPER1 Gene
Orthologs for CATSPER1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CATSPER1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CATSPER1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CATSPER1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Catsper1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Catsper1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CATSPER1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CATSPER1 35 |
|
OneToOne |
- Species where no ortholog for CATSPER1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- oppossum (Monodelphis domestica)
- 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 squirt (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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for CATSPER1 Gene
Variants for CATSPER1 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs193929390 | Pathogenic | 66,025,840(-) | TACCT(-/T)CCCCC | nc-transcript-variant, reference, frameshift-variant | |
| rs193929391 | Pathogenic | 66,025,431(-) | ATGGC(-/ATGGC)GACTA | nc-transcript-variant, reference, frameshift-variant | |
| rs1203998 | Likely benign | 66,025,983(-) | AATAC(A/G)GTGGG | nc-transcript-variant, reference, missense | |
| rs1893316 | Likely benign | 66,026,326(-) | AATAA(C/T)GCAGA | nc-transcript-variant, reference, synonymous-codon | |
| rs2845570 | Likely benign | 66,023,056(+) | GAGCC(G/T)GCCGG | nc-transcript-variant, reference, synonymous-codon |
Relevant External Links for CATSPER1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CATSPER1 Gene
Disorders for CATSPER1 Gene
(5) MalaCards diseases for CATSPER1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spermatogenic failure 7 |
|
|
| non-syndromic male infertility due to sperm motility disorder |
|
|
| spermatic cord torsion |
|
|
| catsper-related male infertility |
|
|
| testicular disease |
|
|
UniProtKB/Swiss-Prot
CTSR1_HUMAN- Spermatogenic failure 7 (SPGF7) [MIM:612997]: An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume. {ECO:0000269 PubMed:19344877}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CATSPER1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- CATSPER1
No data available for Genatlas for CATSPER1 Gene
Publications for CATSPER1 Gene
- Human male infertility caused by mutations in the CATSPER1 channel protein. (PMID: 19344877) Avenarius M.R. … Smith R.J.H. (Am. J. Hum. Genet. 2009) 3 4 22 64
- The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa. (PMID: 16625279) Li H.-G. … Xiong C.-L. (Asian J. Androl. 2006) 3 4 22 64
- A sperm ion channel required for sperm motility and male fertility. (PMID: 11595941) Ren D. … Clapham D.E. (Nature 2001) 2 3 4 64
- The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm. (PMID: 21412338) Strunker T. … Kaupp U.B. (Nature 2011) 3 4 64
- Progesterone activates the principal Ca2+ channel of human sperm. (PMID: 21412339) Lishko P.V. … Kirichok Y. (Nature 2011) 3 4 64
Products for CATSPER1 Gene
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- antibodies-online Antibodies for CATSPER1: See all 37
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- GeneTex CATSPER1 antibody for CATSPER1
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- ViGene Biosciences adenoviral particle packaged cDNA for CATSPER1 gene
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- VectorBuilder custom plasmid, inducible vectors for CATSPER1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CATSPER1
- 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 CATSPER1 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
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (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




