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Aliases for RAB5IF Gene
Aliases for RAB5IF Gene
External Ids for RAB5IF Gene
- HGNC: 15870
- Entrez Gene: 55969
- Ensembl: ENSG00000101084
- UniProtKB: Q9BUV8
Previous HGNC Symbols for RAB5IF Gene
- C20orf24
Summaries for RAB5IF Gene
GeneCards Summary for RAB5IF Gene
RAB5IF (RAB5 Interacting Factor) is a Protein Coding gene. Diseases associated with RAB5IF include Colorectal Cancer, Hereditary Nonpolyposis, Type 7. An important paralog of this gene is TGIF2-RAB5IF.
UniProtKB/Swiss-Prot Summary for RAB5IF Gene
-
Acts as an assembly factor for mitochondrial respiratory complexes.
Additional gene information for RAB5IF Gene
- HGNC(15870)
- Entrez Gene(55969)
- Ensembl(ENSG00000101084)
- UniProtKB(Q9BUV8)
- Open Targets Platform(ENSG00000101084)
- Search for RAB5IF at DataMed
- Search for RAB5IF at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB5IF Gene
Genomics for RAB5IF Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RAB5IF 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 RAB5IF on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB5IF
Genomic Locations for RAB5IF Gene
Genomic Locations for RAB5IF Gene
- chr20:36,605,779-36,612,557
- (GRCh38/hg38)
- Size:
- 6,779 bases
- Orientation:
- Plus strand
- chr20:35,234,137-35,240,960
- (GRCh37/hg19)
- Size:
- 6,824 bases
- Orientation:
- Plus strand
Genomic View for RAB5IF Gene
Genes around RAB5IF on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.23 by HGNC
- 20q11.23 by Entrez Gene
- 20q11.23 by Ensembl
RAB5IF 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 RAB5IF Gene
Proteins for RAB5IF Gene
-
Protein details for RAB5IF Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BUV8-RCAF1_HUMAN
- Recommended name:
- Respirasome Complex Assembly Factor 1
- Protein Accession:
- Q9BUV8
- E1P5U0
- O00605
- Q5QPG6
- Q5QPG7
- Q9BT03
- Q9BZU7
- Q9UI05
Protein attributes for RAB5IF Gene
- Size:
- 137 amino acids
- Molecular mass:
- 15487 Da
- Quaternary structure:
-
- Interacts with NDUFS3, NDUFA4, NDUFV1, NDUFA9 and NDUFS8 of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:31536960). Interacts with UQCRC2 of the ubiquinol-cytochrome c reductase complex (Complex III) (PubMed:31536960). Interacts with COX5A and COX7C of the cytochrome c oxidase complex (Complex IV) (PubMed:31536960).
- Miscellaneous:
-
- [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Post-translational modifications for RAB5IF Gene
Other Protein References for RAB5IF Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RAB5IF
- Novus Biologicals Antibodies for RAB5IF
- Invitrogen Antibodies for RAB5IF (AFLGC-C20orf24)
- antibodies-online: Show 24 available C20ORF24 Antibodies ranked by validation data
- Sino Biological Antibodies for RAB5IF
Protein Products
-
OriGene Purified Proteins for RAB5IF
- Search Origene for MassSpec and Protein Over-expression Lysates for RAB5IF
- Origene Custom Protein Services for RAB5IF
No data available for DME Specific Peptides for RAB5IF Gene
Domains & Families for RAB5IF Gene
Gene Families for RAB5IF Gene
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for RAB5IF Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RAB5IF Gene
- GenScript: Design optimal peptide antigens:
-
- Rab5-interacting protein (CT024_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RAB5IF Gene
Function for RAB5IF Gene
Molecular function for RAB5IF Gene
- UniProtKB/Swiss-Prot Function:
- Acts as an assembly factor for mitochondrial respiratory complexes.
Phenotypes From GWAS Catalog for RAB5IF Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 31536960 |
Phenotypes for RAB5IF Gene
- GenomeRNAi human phenotypes for RAB5IF:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RAB5IF - Select products 50% OFF >
- * RAB5IF 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 RAB5IF
miRNA for RAB5IF Gene
- miRTarBase miRNAs that target RAB5IF
-
- hsa-miR-532-3p (MIRT037932)
- hsa-miR-320a (MIRT044568)
- hsa-miR-1260b (MIRT052677)
- hsa-miR-203a-3p (MIRT201887)
- hsa-miR-33a-3p (MIRT295883)
- hsa-miR-7-5p (MIRT295884)
- hsa-miR-409-3p (MIRT295885)
- hsa-miR-8087 (MIRT559019)
- hsa-miR-618 (MIRT559020)
- hsa-miR-548x-3p (MIRT559021)
- hsa-miR-548j-3p (MIRT559022)
- hsa-miR-548aq-3p (MIRT559023)
- hsa-miR-548am-3p (MIRT559024)
- hsa-miR-548aj-3p (MIRT559025)
- hsa-miR-548ah-3p (MIRT559026)
- hsa-miR-548ae-3p (MIRT559027)
- hsa-miR-548z (MIRT559028)
- hsa-miR-548h-3p (MIRT559029)
- hsa-miR-548d-3p (MIRT559030)
- hsa-miR-548bb-3p (MIRT559031)
- hsa-miR-548ac (MIRT559032)
- hsa-miR-452-3p (MIRT559033)
- hsa-miR-151b (MIRT559034)
- hsa-miR-151a-5p (MIRT559035)
- hsa-miR-611 (MIRT559036)
- hsa-miR-3131 (MIRT559037)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAB5IF
- Browse OriGene Inhibitory RNA Products For RAB5IF
Clone Products
- Applied Biological Materials (abm): Clones for RAB5IF - Select products 50% OFF >
- * RAB5IF 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
- Sino Biological Human cDNA Clone for RAB5IF
Cell Line Products
-
Horizon Cell Lines for RAB5IF
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB5IF Gene
Localization for RAB5IF Gene
Subcellular locations from UniProtKB/Swiss-Prot for RAB5IF Gene
- Mitochondrion inner membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| plasma membrane | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| extracellular | 0 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005746 | mitochondrial respiratory chain | IMP | 31536960 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for RAB5IF Gene
Interacting Proteins for RAB5IF Gene
GPS-Prot Interaction Network for RAB5IF
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0097250 | mitochondrial respiratory chain supercomplex assembly | IMP | 31536960 |
No data available for Pathways by source and SIGNOR curated interactions for RAB5IF Gene
Transcripts for RAB5IF Gene
mRNA/cDNA for RAB5IF Gene
- 6 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000342422 896 nts (view in UCSC)
- ENST00000344795 1069 nts (view in UCSC)
- ENST00000373852 1059 nts (view in UCSC)
- ENST00000483815 1170 nts (view in UCSC)
- ENST00000491113 734 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RAB5IF - Select products 50% OFF >
- * RAB5IF 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 RAB5IF
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAB5IF
- Browse OriGene Inhibitory RNA Products For RAB5IF
Clone Products
- Applied Biological Materials (abm): Clones for RAB5IF - Select products 50% OFF >
- * RAB5IF 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
- Sino Biological Human cDNA Clone for RAB5IF
Relevant External Links for RAB5IF Gene
- GeneLoc Exon Structure for
- RAB5IF
Expression for RAB5IF Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB5IF
mRNA Expression by UniProt/SwissProt for RAB5IF Gene:
Q9BUV8-RCAF1_HUMAN
Tissue specificity:
Expressed in embryonic stem cells and differentiated neuronal cells.
Evidence on tissue expression from TISSUES for RAB5IF Gene
- Lung(4.6)
- Skin(4.5)
- Adrenal gland(4.3)
- Nervous system(3.4)
- Intestine(2.6)
Primer Products
-
OriGene qPCR primer pairs for RAB5IF
-
OriGene qPCR primer pairs and template standards for RAB5IF
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB5IF Gene
Orthologs for RAB5IF Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TGIF2 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | C24H20orf24 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | 1110008F13Rik 30 |
|
||
| Rab5if 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | RGD1307752 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | C13H20orf24 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | C20H20ORF24 30 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c20orf24 30 |
|
||
| Str.6359 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7273 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | c20orf24 30 |
|
||
| C23H20orf24 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG12107 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004838 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | F44E7.9 30 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G29020 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0110600 30 |
|
- Species where no ortholog for RAB5IF was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Paralogs for RAB5IF Gene
Paralogs for RAB5IF Gene
Variants for RAB5IF Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1057192 | CNV | loss | 25217958 |
| nsv833967 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
55.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.15;
3.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RAB5IF Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RAB5IF
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB5IF Gene
Disorders for RAB5IF Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| colorectal cancer, hereditary nonpolyposis, type 7 |
|
|
Search RAB5IF in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RAB5IF
No data available for UniProtKB/Swiss-Prot and Genatlas for RAB5IF Gene
Publications for RAB5IF Gene
- Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 2 3 4
- The GDP/GTP cycle of Rab5 in the regulation of endocytotic membrane traffic. (PMID: 8824393) Vitale G … Zerial M (Cold Spring Harbor symposia on quantitative biology 1995) 2 3 4
- Regulation of Mitochondrial Electron Transport Chain Assembly. (PMID: 30292820) Cogliati S … Soriano ME (Journal of molecular biology 2018) 2 3
- Rab5 affinity chromatography without nonhydrolyzable GTP analogues. (PMID: 19526728) Hagiwara M … Yamamoto Y (Zeitschrift fur Naturforschung. C, Journal of biosciences 2009) 2 3
- An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4
ExternalLinks
Products for RAB5IF Gene
- Custom Antibody ServicesOriGene Antibodies for RAB5IF
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RAB5IF
- Search Origene for MassSpec and Protein Over-expression Lysates for RAB5IF
- Origene Custom Protein Services for RAB5IF
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAB5IF
- Browse OriGene Inhibitory RNA Products For RAB5IF
- OriGene qPCR primer pairs for RAB5IF
- OriGene qPCR primer pairs and template standards for RAB5IF
- OriGene CRISPR knockouts for RAB5IF
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RAB5IF
- Sino Biological Human cDNA Clone for RAB5IF
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for RAB5IF
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RAB5IF
- Novus Biologicals proteins and lysates for RAB5IF
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for RAB5IF (AFLGC-C20orf24)
- VectorBuilder Custom and pre-made DNA vectors for RAB5IF (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RAB5IF (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Virus packaging for RAB5IF CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RAB5IF
- antibodies-online: Show 24 available C20ORF24 Antibodies ranked by validation data
- antibodies-online: Search results for available C20ORF24 related products ranked by validation data
- antibodies-online: Search results for available C20ORF24 related products ranked by validation data
- Horizon Cell Lines for RAB5IF
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for RAB5IF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for RAB5IF
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RAB5IF
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for RAB5IF
Sources for RAB5IF 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
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- (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
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- (49) Leiden
- (50) miRBase
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- (53) PubMed
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- (57) Abcam
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- (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
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- (104) diseasecard
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- (132) dbSUPER
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- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
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- (143) Applied Biosystems
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- (148) RNACentral
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- (163) LncBase
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- (178) MirGeneDB