Aliases for LHFPL3 Gene
Aliases for LHFPL3 Gene
External Ids for LHFPL3 Gene
- HGNC: 6589
- Entrez Gene: 375612
- Ensembl: ENSG00000187416
- OMIM: 609719
- UniProtKB: Q86UP9
Previous HGNC Symbols for LHFPL3 Gene
- LHFPL4
Previous GeneCards Identifiers for LHFPL3 Gene
- GC00U990471
- GC07P103529
- GC07P103563
- GC07P103756
- GC07P103969
- GC07P098328
Summaries for LHFPL3 Gene
-
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for LHFPL3 Gene
LHFPL3 (LHFPL Tetraspan Subfamily Member 3) is a Protein Coding gene. Diseases associated with LHFPL3 include Deafness, Autosomal Recessive 53 and Deafness, Autosomal Recessive 66. An important paralog of this gene is LHFPL4.
Additional gene information for LHFPL3 Gene
- Monarch Initiative
- Search for LHFPL3 at DataMed
- Search for LHFPL3 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL3 Gene
Genomics for LHFPL3 Gene
GeneHancer (GH) Regulatory Elements for LHFPL3 Gene
Promoters and enhancers for LHFPL3 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH07J104328 | Promoter | 1 | EPDnew | 650.7 | 0.0 | -39 | 0.1 | MXI1 SUZ12 KLF17 ZIC2 ZNF335 ZFHX2 GLIS2 ZBTB20 ZBTB10 SP3 | LHFPL3 GC07P104297 | |
| GH07J104329 | Promoter | 1 | EPDnew | 650.7 | +0.1 | 111 | 0.1 | ZBTB10 MXI1 SP3 SUZ12 SP2 KLF17 ZNF398 ZNF560 ZNF335 ZFHX2 | LHFPL3 GC07P104297 EIF4BP6 | |
| GH07J104330 | Promoter | 0.9 | EPDnew | 650.7 | -0.2 | -200 | 0.1 | ZBTB10 MXI1 SP3 SUZ12 SP2 KLF17 ZIC2 ZNF335 KLF16 ZNF692 | LHFPL3 GC07P104297 | |
| GH07J104362 | Enhancer | 0.4 | ENCODE | 11.3 | +34.2 | 34208 | 0.8 | SP1 CREB1 | LHFPL3 EIF4BP6 | |
| GH07J104772 | Enhancer | 0.4 | ENCODE | 9.8 | +444.1 | 444052 | 1.2 | POLR2A MAX CTBP2 | LHFPL3-AS1 LHFPL3 LOC105375436 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around LHFPL3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LHFPL3 gene promoter:
-
- E2F-2
- FAC1
- E2F
- E2F-1
- E2F-3a
- E2F-4
- E2F-5
- STAT1beta
- STAT1
- STAT1alpha
Regulatory Element Products
Genomic Locations for LHFPL3 Gene
Genomic Locations for LHFPL3 Gene
- chr7:104,328,656-104,908,558
- (GRCh38/hg38)
- Size:
- 579,903 bases
- Orientation:
- Plus strand
- chr7:103,969,104-104,549,005
- (GRCh37/hg19)
- Size:
- 579,902 bases
- Orientation:
- Plus strand
Genomic View for LHFPL3 Gene
Genes around LHFPL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q22.2-q22.3 by Entrez Gene
- 7q22.2-q22.3 by HGNC
- 7q22.2 by Ensembl
LHFPL3 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 LHFPL3 Gene
Proteins for LHFPL3 Gene
-
Protein details for LHFPL3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86UP9-LHPL3_HUMAN
- Recommended name:
- LHFPL tetraspan subfamily member 3 protein
- Protein Accession:
- Q86UP9
- A1L383
- A4D0Q5
Protein attributes for LHFPL3 Gene
- Size:
- 236 amino acids
- Molecular mass:
- 25769 Da
- Quaternary structure:
- No Data Available
Protein Expression for LHFPL3 Gene
Post-translational modifications for LHFPL3 Gene
Other Protein References for LHFPL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for LHFPL3
- Invitrogen Antibodies for LHFPL3
- Search GeneTex for Antibodies for LHFPL3
-
Boster Bio Antibodies for LHFPL3
Protein Products
-
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- Search Origene for MassSpec and Protein Over-expression Lysates for LHFPL3
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- antibodies-online: Search results for 3 available LHFPL3 Proteins ranked by validation data
- Compare Top LHFPL3 Proteins
-
Quality Products:
- Search GeneTex for Proteins for LHFPL3
Assay Products
No data available for DME Specific Peptides for LHFPL3 Gene
Domains & Families for LHFPL3 Gene
Gene Families for LHFPL3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for LHFPL3 Gene
Graphical View of Domain Structure for InterPro Entry
Q86UP9- Family:
-
- Belongs to the LHFP family.
Function for LHFPL3 Gene
Molecular function for LHFPL3 Gene
- GENATLAS Biochemistry:
- lipoma HMGIC (high mobility group I C protein) fusion partner like gene 3
Phenotypes From GWAS Catalog for LHFPL3 Gene
Phenotypes for LHFPL3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for LHFPL3
- Cyagen custom Knockout/knockin (KOKI) mouse models for LHFPL3
-
CRISPR Products
-
OriGene CRISPR knockouts for LHFPL3
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- genomics-online: gRNA clones - Search results for 89 available LHFPL3 gene related products
- Overview of 89 available LHFPL3 gene related products
- Applied Biological Materials CRISPR for LHFPL3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LHFPL3
- GenScript: Design CRISPR guide RNA sequences for LHFPL3
miRNA for LHFPL3 Gene
- miRTarBase miRNAs that target LHFPL3
-
- hsa-mir-4709-3p (MIRT450342)
- hsa-mir-578 (MIRT450343)
- hsa-mir-526b-5p (MIRT450344)
- hsa-mir-4635 (MIRT450345)
- hsa-mir-8067 (MIRT450346)
- hsa-mir-6508-5p (MIRT450347)
- hsa-mir-513c-3p (MIRT450348)
- hsa-mir-513a-3p (MIRT450349)
- hsa-mir-3606-3p (MIRT450350)
- hsa-mir-1269b (MIRT490371)
- hsa-mir-1269a (MIRT490372)
- hsa-mir-4497 (MIRT490373)
- hsa-mir-6780b-5p (MIRT490374)
- hsa-mir-4725-3p (MIRT490375)
- hsa-mir-5196-5p (MIRT490376)
- hsa-mir-4271 (MIRT490377)
- hsa-mir-4747-5p (MIRT490378)
- hsa-mir-6787-5p (MIRT490379)
- hsa-mir-663a (MIRT490380)
- hsa-mir-1908-5p (MIRT490381)
- hsa-mir-4515 (MIRT490382)
- hsa-mir-1288-3p (MIRT490383)
- hsa-mir-4740-5p (MIRT490384)
- hsa-mir-3202 (MIRT490385)
- hsa-mir-4749-5p (MIRT490386)
- hsa-mir-3195 (MIRT490387)
- hsa-mir-4706 (MIRT490388)
- hsa-mir-3179 (MIRT490389)
- hsa-mir-525-3p (MIRT490390)
- hsa-mir-524-3p (MIRT490391)
- hsa-mir-342-3p (MIRT540671)
- hsa-mir-6793-3p (MIRT540672)
- hsa-mir-574-3p (MIRT540673)
- hsa-mir-8485 (MIRT540674)
- hsa-mir-3939 (MIRT616969)
- hsa-mir-361-3p (MIRT638542)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LHFPL3
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- Overview of 89 available LHFPL3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for LHFPL3
- VectorBuilder custom plasmid, inducible vectors for LHFPL3
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-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LHFPL3
- Applied Biological Materials Clones for LHFPL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for LHFPL3
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LHFPL3 Gene
Localization for LHFPL3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LHFPL3 Gene
- Membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for LHFPL3 Gene
No Data Available
Interacting Proteins for LHFPL3 Gene
No data available for Pathways by source and SIGNOR curated interactions for LHFPL3 Gene
Transcripts for LHFPL3 Gene
mRNA/cDNA for LHFPL3 Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (24) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000424859 1852 bps (uc064gsi.1)
- ENST00000401970 1378 bps (uc064gsj.1)
Unigene Clusters for LHFPL3 Gene
- Lipoma HMGIC fusion partner-like 3:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LHFPL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LHFPL3
- genomics-online: gRNA clones - Search results for 89 available LHFPL3 gene related products
- Overview of 89 available LHFPL3 gene related products
- Applied Biological Materials CRISPR for LHFPL3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LHFPL3
- GenScript: Design CRISPR guide RNA sequences for LHFPL3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LHFPL3
- Browse OriGene Inhibitory RNA Products For LHFPL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LHFPL3
- genomics-online: shRNA clones - Search results for 89 available LHFPL3 gene related products
- Overview of 89 available LHFPL3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for LHFPL3
- VectorBuilder custom plasmid, inducible vectors for LHFPL3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LHFPL3
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LHFPL3
- Applied Biological Materials Clones for LHFPL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for LHFPL3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Adult Oligodendrocyte Precursor Cells Cortical Sub Ventricular Zone
- Oligodendrocyte Precursor Cells Forebrain White Matter
- Oligodendrocyte progenitor cells(Najm FJ et. al. 2011)
-
Neural Tube (Nervous System)
- Adult Oligodendrocyte Precursor Cells Cortical Sub Ventricular Zone
- Oligodendrocytes (Nervous System)
- Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for LHFPL3 Gene
This gene is overexpressed in Brain - Amygdala (x6.1), Brain - Putamen (basal ganglia) (x6.0), Brain - Nucleus accumbens (basal ganglia) (x6.0), Brain - Caudate (basal ganglia) (x5.5), Brain - Substantia nigra (x4.9), and Brain - Hypothalamus (x4.6).
This gene is overexpressed in Platelet (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LHFPL3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of LHFPL3 Gene:
LHFPL3SOURCE GeneReport for Unigene cluster for LHFPL3 Gene:
Hs.659164Evidence on tissue expression from TISSUES for LHFPL3 Gene
- Nervous system(4.5)
- Skin(2.6)
Primer Products
-
OriGene qPCR primer pairs for LHFPL3
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LHFPL3 Gene
Orthologs for LHFPL3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LHFPL3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LHFPL3 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LHFPL3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Lhfpl3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Lhfpl3 16 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | LHFPL3 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LHFPL3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lhfpl3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lhfpl3 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Tmhs 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005724 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F26D10.11 34 |
|
OneToMany |
- Species where no ortholog for LHFPL3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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)
- wheat (Triticum aestivum)
Evolution for LHFPL3 Gene
- ENSEMBL:
- Gene Tree for LHFPL3 (if available)
- TreeFam:
- Gene Tree for LHFPL3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LHFPL3: view image
Paralogs for LHFPL3 Gene
Variants for LHFPL3 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000000207 | -- | 104,749,954(+) | G/T | intron_variant | |
| rs1000003388 | -- | 104,450,422(+) | A/G | intron_variant | |
| rs1000005886 | -- | 104,412,823(+) | A/G | intron_variant | |
| rs1000016791 | -- | 104,487,686(+) | C/G/T | intron_variant | |
| rs1000017033 | -- | 104,792,084(+) | A/T | intron_variant |
Gene Damage Index Score:
1.95;
36.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LHFPL3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- LHFPL3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL3 Gene
Disorders for LHFPL3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 53 |
|
|
| deafness, autosomal recessive 66 |
|
|
| deafness, autosomal recessive 67 |
|
|
Search LHFPL3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LHFPL3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for LHFPL3 Gene
Publications for LHFPL3 Gene
- A genome-wide association study on obesity and obesity-related traits. (PMID: 21552555) Wang K … Price RA (PloS one 2011) 3 44 58
- High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 44 58
- 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 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
Products for LHFPL3 Gene
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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
- antibodies-online: Search results for 10 available LHFPL3 Antibodies ranked by validation data
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- antibodies-online: Search results for available LHFPL3 related products ranked by validation data
- antibodies-online: Search results for 3 available LHFPL3 Proteins ranked by validation data
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- Overview of 89 available LHFPL3 gene related products
- genomics-online: gRNA clones - Search results for 89 available LHFPL3 gene related products
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- Overview of 89 available LHFPL3 gene related products
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Sources for LHFPL3 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
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