Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functi... See more...

Aliases for ROBO1 Gene

Aliases for ROBO1 Gene

  • Roundabout Guidance Receptor 1 2 3 5
  • DUTT1 2 3 4
  • Deleted In U Twenty Twenty 3 4
  • Roundabout Homolog 1 3 4
  • SAX3 2 3
  • Roundabout, Axon Guidance Receptor, Homolog 1 (Drosophila) 2
  • Roundabout (Axon Guidance Receptor, Drosophila) Homolog 1 2
  • Roundabout, Axon Guidance Receptor, Homolog 1 3
  • FLJ21882 2
  • H-Robo-1 4
  • ROBO1 5

External Ids for ROBO1 Gene

Previous GeneCards Identifiers for ROBO1 Gene

  • GC03M076410
  • GC03M078320
  • GC03M078452
  • GC03M078567
  • GC03M078729

Summaries for ROBO1 Gene

Entrez Gene Summary for ROBO1 Gene

  • Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for ROBO1 Gene

ROBO1 (Roundabout Guidance Receptor 1) is a Protein Coding gene. Diseases associated with ROBO1 include Pituitary Stalk Interruption Syndrome and Dyslexia. Among its related pathways are Development Slit-Robo signaling and Guidance Cues and Growth Cone Motility. Gene Ontology (GO) annotations related to this gene include identical protein binding and LRR domain binding. An important paralog of this gene is ROBO2.

UniProtKB/Swiss-Prot Summary for ROBO1 Gene

  • Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development (By similarity).

Gene Wiki entry for ROBO1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ROBO1 Gene

Genomics for ROBO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ROBO1 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
GH03J079015 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.6 +750.4 750448 5.5 ZNF221 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 ZNF692 ZHX2 LARP7 PRDM1 ROBO1 piR-30106 MN309174-473
GH03J079766 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 600.7 +0.8 772 2.4 CTCF POLR2A EZH2 RAD21 TARDBP ESR1 USF1 FOXM1 ZNF143 L3MBTL2 ROBO1 MN298114-140
GH03J079769 Enhancer 0.5 Ensembl 600.7 -1.1 -1103 0.6 POLR2A RAD21 FOXA1 SIN3A SP1 ROBO1 piR-56133-145
GH03J078992 Enhancer 1.6 VISTA Ensembl ENCODE CraniofacialAtlas 8.8 +774.0 774013 3.8 GATAD2A PRDM10 ZNF629 ZNF692 RCOR2 PRDM1 ZIC2 RXRB IRF2 GABPA ROBO1 piR-30106 MN309174-473
GH03J079012 Enhancer 0.5 CraniofacialAtlas 22.2 +755.8 755847 1 PRDM1 RBFOX2 POLR2A FEZF1 NFE2L2 NR3C1 ROBO1 piR-30106 MN309174-473
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ROBO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ROBO1

Top Transcription factor binding sites by QIAGEN in the ROBO1 gene promoter:
  • ARP-1
  • Cdc5
  • FOXC1
  • FOXO4
  • GATA-1
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5

Genomic Locations for ROBO1 Gene

Genomic Locations for ROBO1 Gene
chr3:78,597,238-79,767,998
(GRCh38/hg38)
Size:
1,170,761 bases
Orientation:
Minus strand
chr3:78,646,388-79,817,059
(GRCh37/hg19)
Size:
1,170,672 bases
Orientation:
Minus strand

Genomic View for ROBO1 Gene

Genes around ROBO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ROBO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ROBO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ROBO1 Gene

Proteins for ROBO1 Gene

  • Protein details for ROBO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6N7-ROBO1_HUMAN
    Recommended name:
    Roundabout homolog 1
    Protein Accession:
    Q9Y6N7
    Secondary Accessions:
    • B2RXI1
    • D3DU36
    • E9PD49
    • Q1RMC7
    • Q7Z300
    • Q9BUS7

    Protein attributes for ROBO1 Gene

    Size:
    1651 amino acids
    Molecular mass:
    180930 Da
    Quaternary structure:
    • Homodimer. Dimerization is mediated by the extracellular domain and is independent of SLIT liganding (PubMed:24673457). Interacts with SLIT1 (By similarity). Interacts with SLIT2 (PubMed:10102268, PubMed:11404413, PubMed:17848514). Interacts with FLRT3 (PubMed:24560577). Interacts with MYO9B (via Rho-GAP domain) (PubMed:26529257).
    Miscellaneous:
    • Maps within a region of overlapping homozygous deletions characterized in both small cell lung cancer cell lines (SCLC) and in a breast cancer cell line. The promoter region of ROBO1 shows complete hypermethylation of CpG sites in the BT-20 breast tumor cell lines, some primary invasive breast carcinomasa and some primary clear cell renal cell carcinomas (CC-RCC).
    • [Isoform 2]: Incomplete.

    Three dimensional structures from OCA and Proteopedia for ROBO1 Gene

    Alternative splice isoforms for ROBO1 Gene

neXtProt entry for ROBO1 Gene

Post-translational modifications for ROBO1 Gene

  • Ubiquitinated. May be deubiquitinated by USP33.
  • Glycosylation at Asn160, Asn463, Thr660, Ser661, Asn790, Asn820, and Asn827
  • Ubiquitination at Lys1051
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ROBO1 Gene

Domains & Families for ROBO1 Gene

Gene Families for ROBO1 Gene

Protein Domains for ROBO1 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin V-type
ProtoNet:

Suggested Antigen Peptide Sequences for ROBO1 Gene

GenScript: Design optimal peptide antigens:
  • ROBO1 protein (Q1RMC7_HUMAN)
  • ROBO1 protein (Q1RMC8_HUMAN)
  • ROBO1 protein (Q2M1J3_HUMAN)
  • H-Robo-1 (ROBO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6N7

UniProtKB/Swiss-Prot:

ROBO1_HUMAN :
  • Belongs to the immunoglobulin superfamily. ROBO family.
Family:
  • Belongs to the immunoglobulin superfamily. ROBO family.
genes like me logo Genes that share domains with ROBO1: view

Function for ROBO1 Gene

Molecular function for ROBO1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development (By similarity).
GENATLAS Biochemistry:
Drosophila round about homolog 1,also homolog to C elegans sex3,neural cell adhesion molecule family member,widely expressed,involved in axon guidance and controlling midline crossing

Phenotypes From GWAS Catalog for ROBO1 Gene

Gene Ontology (GO) - Molecular Function for ROBO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12504588
GO:0008046 axon guidance receptor activity IEA --
GO:0030275 LRR domain binding IPI 17848514
GO:0042802 identical protein binding IDA 12504588
genes like me logo Genes that share ontologies with ROBO1: view
genes like me logo Genes that share phenotypes with ROBO1: view

Human Phenotype Ontology for ROBO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ROBO1 Gene

MGI Knock Outs for ROBO1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ROBO1

CRISPR Products

miRNA for ROBO1 Gene

miRTarBase miRNAs that target ROBO1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROBO1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ROBO1 Gene

Localization for ROBO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ROBO1 Gene

Cell membrane. Single-pass type I membrane protein. Cell projection, axon. Endoplasmic reticulum-Golgi intermediate compartment membrane. Single-pass membrane protein. Note=Detected at growth cones in thalamus neurons. Detected at growth cones in thalamus neurons (By similarity). PRRG4 prevents cell surface location and both colocalize in the Endoplasmic reticulum/Golgi adjacent to the cell nucleus (By similarity). {ECO:0000250 UniProtKB:O55005, ECO:0000250 UniProtKB:O89026}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ROBO1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ROBO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18566128
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 9608531
GO:0009986 cell surface IDA 12504588
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ROBO1: view

Pathways & Interactions for ROBO1 Gene

genes like me logo Genes that share pathways with ROBO1: view

Pathways by source for ROBO1 Gene

1 GeneGo (Thomson Reuters) pathway for ROBO1 Gene
  • Development Slit-Robo signaling
2 Qiagen pathways for ROBO1 Gene
  • Guidance Cues and Growth Cone Motility
  • Signaling by Slit

SIGNOR curated interactions for ROBO1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ROBO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002042 cell migration involved in sprouting angiogenesis IMP 19351956
GO:0003148 outflow tract septum morphogenesis ISS --
GO:0003180 aortic valve morphogenesis ISS --
GO:0003184 pulmonary valve morphogenesis ISS --
GO:0003272 endocardial cushion formation ISS --
genes like me logo Genes that share ontologies with ROBO1: view

Drugs & Compounds for ROBO1 Gene

(1) Drugs for ROBO1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ROBO1: view

Transcripts for ROBO1 Gene

mRNA/cDNA for ROBO1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROBO1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ROBO1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: -
SP3: -
SP4: -
SP5:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ROBO1 Gene

GeneLoc Exon Structure for
ROBO1

Expression for ROBO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ROBO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ROBO1 Gene

This gene is overexpressed in Cerebrospinal fluid (39.7), Serum (8.5), and Fetal Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ROBO1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ROBO1

SOURCE GeneReport for Unigene cluster for ROBO1 Gene:

Hs.744218

mRNA Expression by UniProt/SwissProt for ROBO1 Gene:

Q9Y6N7-ROBO1_HUMAN
Tissue specificity: Widely expressed, with exception of kidney.

Evidence on tissue expression from TISSUES for ROBO1 Gene

  • Nervous system(4.8)
  • Lung(3.1)
  • Skin(2.7)
  • Heart(2.5)
  • Blood(2.3)
  • Intestine(2.3)
  • Muscle(2.1)
  • Eye(2.1)
  • Kidney(2.1)
  • Lymph node(2.1)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ROBO1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ROBO1 Gene

Orthologs for ROBO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ROBO1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ROBO1 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ROBO1 30 31
  • 92.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ROBO1 30 31
  • 92 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ROBO1 31
  • 91 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ROBO1 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Robo1 30 17 31
  • 88.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Robo1 30
  • 87.89 (n)
Chicken
(Gallus gallus)
Aves ROBO1 30 31
  • 82.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ROBO1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia robo1 30
  • 76.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4819 30
Zebrafish
(Danio rerio)
Actinopterygii robo1 30 31
  • 66.77 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010242 30
  • 46.3 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta robo3 30 31 32
  • 45.75 (n)
ManyToMany
robo 31 32
  • 29 (a)
ManyToMany
lea 31 32
  • 26 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea sax-3 30 31 32
  • 47.73 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
OneToMany
Species where no ortholog for ROBO1 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)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for ROBO1 Gene

ENSEMBL:
Gene Tree for ROBO1 (if available)
TreeFam:
Gene Tree for ROBO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ROBO1: view image

Paralogs for ROBO1 Gene

(7) SIMAP similar genes for ROBO1 Gene using alignment to 6 proteins:

  • ROBO1_HUMAN
  • F8WEV8_HUMAN
  • H7C4Y7_HUMAN
  • H7C545_HUMAN
  • Q1RMC8_HUMAN
  • Q2M1J3_HUMAN
genes like me logo Genes that share paralogs with ROBO1: view

Variants for ROBO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ROBO1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
712462 Benign: not provided 78,717,842(-) A/G SYNONYMOUS_VARIANT
713549 Likely Benign: not provided 78,606,727(-) G/A INTRON_VARIANT
713785 Benign: not provided 78,627,373(-) A/G SYNONYMOUS_VARIANT
714202 Benign: not provided 78,746,863(-) G/A SYNONYMOUS_VARIANT
715967 Benign: not provided 78,688,747(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ROBO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ROBO1 Gene

Variant ID Type Subtype PubMed ID
dgv1385e212 CNV loss 25503493
dgv2548n106 CNV deletion 24896259
dgv2549n106 CNV tandem duplication 24896259
dgv8393n54 CNV loss 21841781
dgv8394n54 CNV loss 21841781
esv1007360 CNV deletion 20482838
esv1409005 CNV insertion 17803354
esv1413527 CNV insertion 17803354
esv1786723 CNV deletion 17803354
esv2123767 CNV deletion 18987734
esv2208607 CNV deletion 18987734
esv2422412 CNV deletion 17116639
esv2432577 CNV deletion 19546169
esv2520472 CNV insertion 19546169
esv2657956 CNV deletion 23128226
esv2725545 CNV deletion 23290073
esv2725546 CNV deletion 23290073
esv2725547 CNV deletion 23290073
esv2725548 CNV deletion 23290073
esv2725549 CNV deletion 23290073
esv2725550 CNV deletion 23290073
esv2725552 CNV deletion 23290073
esv2725553 CNV deletion 23290073
esv2725554 CNV deletion 23290073
esv2725555 CNV deletion 23290073
esv2725556 CNV deletion 23290073
esv2725557 CNV deletion 23290073
esv2725558 CNV deletion 23290073
esv2725559 CNV deletion 23290073
esv2725560 CNV deletion 23290073
esv2763281 CNV loss 21179565
esv3306423 CNV mobile element insertion 20981092
esv3371413 CNV insertion 20981092
esv3386237 CNV insertion 20981092
esv3399410 CNV insertion 20981092
esv3447486 CNV duplication 20981092
esv3450155 CNV insertion 20981092
esv3562118 CNV deletion 23714750
esv3562120 CNV deletion 23714750
esv3562122 CNV deletion 23714750
esv3568852 CNV loss 25503493
esv3568856 CNV loss 25503493
esv3568857 CNV loss 25503493
esv3596690 CNV loss 21293372
esv3596692 CNV loss 21293372
esv3596693 CNV loss 21293372
esv3596694 CNV loss 21293372
esv3596696 CNV loss 21293372
esv3596697 CNV loss 21293372
esv3596698 CNV loss 21293372
esv3596700 CNV loss 21293372
esv3596705 CNV gain 21293372
esv3596708 CNV gain 21293372
esv991723 CNV deletion 20482838
nsv1009391 CNV loss 25217958
nsv1072704 CNV deletion 25765185
nsv1114399 CNV deletion 24896259
nsv1114400 CNV deletion 24896259
nsv1136747 CNV deletion 24896259
nsv1139137 CNV deletion 24896259
nsv1148486 CNV deletion 26484159
nsv236494 CNV deletion 16902084
nsv236995 CNV insertion 16902084
nsv460731 CNV loss 19166990
nsv470672 CNV loss 18288195
nsv471923 CNV novel sequence insertion 20440878
nsv472739 CNV novel sequence insertion 20440878
nsv476106 CNV novel sequence insertion 20440878
nsv477070 CNV novel sequence insertion 20440878
nsv507105 OTHER sequence alteration 20534489
nsv509834 OTHER sequence alteration 20534489
nsv520937 CNV loss 19592680
nsv590738 CNV loss 21841781
nsv590739 CNV loss 21841781
nsv822148 CNV loss 20364138
nsv822149 CNV loss 20364138
nsv822150 CNV gain 20364138
nsv834743 CNV loss 17160897
nsv834744 CNV loss 17160897
nsv834745 CNV gain 17160897
nsv834747 CNV gain 17160897
nsv956273 CNV deletion 24416366
nsv979851 CNV duplication 23825009
nsv999687 CNV loss 25217958
nsv999796 CNV loss 25217958

Variation tolerance for ROBO1 Gene

Residual Variation Intolerance Score: 4.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ROBO1 Gene

Human Gene Mutation Database (HGMD)
ROBO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ROBO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROBO1 Gene

Disorders for ROBO1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ROBO1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pituitary stalk interruption syndrome
  • ectopic neurohypophysis
dyslexia
reading disorder
  • dyslexia
tongue carcinoma
  • tongue cancer
chromosome 1q21.1 duplication syndrome
  • 1q21.1 microduplication syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ROBO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ROBO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ROBO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ROBO1 Gene

Publications for ROBO1 Gene

  1. Repulsive axon guidance: Abelson and Enabled play opposing roles downstream of the roundabout receptor. (PMID: 10892742) Bashaw GJ … Goodman CS (Cell 2000) 3 4 23
  2. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. (PMID: 9458045) Kidd T … Tear G (Cell 1998) 2 3 4
  3. The DUTT1 gene, a novel NCAM family member is expressed in developing murine neural tissues and has an unusually broad pattern of expression. (PMID: 9608531) Sundaresan V … Rabbitts P (Molecular and cellular neurosciences 1998) 2 3 4
  4. Myo9b is a key player in SLIT/ROBO-mediated lung tumor suppression. (PMID: 26529257) Kong R … Wu JY (The Journal of clinical investigation 2015) 3 4
  5. Roundabout 1 exists predominantly as a basal dimeric complex and this is unaffected by binding of the ligand Slit2. (PMID: 24673457) Zakrys L … Milligan G (The Biochemical journal 2014) 3 4

Products for ROBO1 Gene

  • Signalway ELISA kits for ROBO1
  • Signalway Proteins for ROBO1

Sources for ROBO1 Gene