ROBO1 (roundabout guidance receptor 1) - Rat Genome Database

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Gene: ROBO1 (roundabout guidance receptor 1) Homo sapiens
Analyze
Symbol: ROBO1
Name: roundabout guidance receptor 1
RGD ID: 735617
HGNC Page HGNC:10249
Description: Enables LRR domain binding activity and identical protein binding activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; chemorepulsion involved in postnatal olfactory bulb interneuron migration; and regulation of signal transduction. Located in cell surface; cytoplasm; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deleted in U twenty twenty; DUTT1; FLJ21882; MGC131599; MGC133277; roundabout homolog 1; roundabout homolog 1 (drosophila); roundabout, axon guidance receptor, homolog 1; SAX3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38378,597,239 - 79,767,998 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl378,597,239 - 79,767,998 (-)EnsemblGRCh38hg38GRCh38
GRCh37378,646,389 - 79,817,148 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36378,729,080 - 79,721,751 (-)NCBINCBI36Build 36hg18NCBI36
Build 34378,729,079 - 79,721,751NCBI
Celera379,390,331 - 80,561,510 (-)NCBICelera
Cytogenetic Map3p12.3NCBI
HuRef378,666,127 - 79,837,569 (-)NCBIHuRef
CHM1_1378,599,244 - 79,770,223 (-)NCBICHM1_1
T2T-CHM13v2.0378,652,524 - 79,823,991 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
androgen antagonist  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
aristolochic acid  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
Butylparaben  (ISO)
caffeine  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chrysene  (ISO)
clobetasol  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
DDE  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (EXP)
linuron  (ISO)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (EXP)
nitrofen  (ISO)
paracetamol  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP)
quercetin  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tebufenpyrad  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of cysteine-type endopeptidase activity involved in apoptotic process  (IMP)
aorta development  (ISS)
aortic valve morphogenesis  (ISS)
axon guidance  (IEA,ISO)
axon midline choice point recognition  (IEA,ISS)
cell adhesion  (TAS)
cell differentiation  (IEA)
cell migration involved in sprouting angiogenesis  (IMP)
central nervous system development  (ISO)
chemorepulsion involved in postnatal olfactory bulb interneuron migration  (IDA)
chemotaxis  (IEA)
coronary vasculature development  (ISO)
endocardial cushion formation  (ISS)
heart development  (ISO)
homophilic cell adhesion via plasma membrane adhesion molecules  (IDA)
kidney development  (ISO)
mammary duct terminal end bud growth  (ISO)
negative regulation of cell migration  (IMP)
negative regulation of cell population proliferation  (ISO)
negative regulation of chemokine-mediated signaling pathway  (IMP)
negative regulation of gene expression  (ISS)
negative regulation of mammary gland epithelial cell proliferation  (IMP)
negative regulation of negative chemotaxis  (IDA)
nervous system development  (IEA,TAS)
olfactory bulb interneuron development  (ISO)
outflow tract septum morphogenesis  (ISS)
positive regulation of axonogenesis  (IDA)
positive regulation of gene expression  (ISS)
positive regulation of MAP kinase activity  (IMP)
positive regulation of Notch signaling pathway involved in heart induction  (ISS)
positive regulation of Rho protein signal transduction  (IMP)
positive regulation of vascular endothelial growth factor signaling pathway  (IMP)
pulmonary valve morphogenesis  (ISS)
regulation of dendrite morphogenesis  (ISO)
Roundabout signaling pathway  (IEA,IMP)
spinal cord development  (ISO)
ventricular septum development  (ISO)
ventricular septum morphogenesis  (ISS)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Alterations of the Dutt1/Robo1 gene in lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine in rats. Tsujiuchi T, etal., Mol Carcinog. 2004 Aug;40(4):241-6.
4. Expression of netrin-1, slit-1 and slit-3 but not of slit-2 after cerebellar and spinal cord lesions. Wehrle R, etal., Eur J Neurosci. 2005 Nov;22(9):2134-44.
Additional References at PubMed
PMID:9458045   PMID:9608531   PMID:9796701   PMID:10433822   PMID:10892742   PMID:11748139   PMID:12082532   PMID:12471613   PMID:12477932   PMID:12504588   PMID:12892710   PMID:14702039  
PMID:15207848   PMID:15342556   PMID:15489334   PMID:16169070   PMID:16254601   PMID:16636676   PMID:16641997   PMID:16685377   PMID:16740745   PMID:17062560   PMID:17081983   PMID:17671114  
PMID:17671369   PMID:17848514   PMID:17968499   PMID:18270976   PMID:18387595   PMID:18464913   PMID:18566128   PMID:18829537   PMID:18948384   PMID:19023125   PMID:19104841   PMID:19351956  
PMID:19684588   PMID:19706539   PMID:20029409   PMID:20068157   PMID:20071679   PMID:20298689   PMID:20300657   PMID:20379614   PMID:20438712   PMID:20471383   PMID:20816195   PMID:20936779  
PMID:20949370   PMID:21041608   PMID:21060114   PMID:21283129   PMID:21385766   PMID:21385904   PMID:21465248   PMID:21686327   PMID:21857494   PMID:21875486   PMID:21998696   PMID:22262894  
PMID:22719878   PMID:22826604   PMID:22898079   PMID:22939629   PMID:23119100   PMID:23294842   PMID:23733161   PMID:23953227   PMID:23954868   PMID:24124411   PMID:24247621   PMID:24430574  
PMID:24612512   PMID:24673457   PMID:24752651   PMID:24777535   PMID:24777813   PMID:24981056   PMID:25010661   PMID:25465073   PMID:25605242   PMID:25752613   PMID:25786906   PMID:25955714  
PMID:26022159   PMID:26081620   PMID:26252416   PMID:26264936   PMID:26282852   PMID:26344197   PMID:26365803   PMID:26400100   PMID:26427657   PMID:26496610   PMID:26529257   PMID:26608094  
PMID:26713366   PMID:26745454   PMID:26889813   PMID:26972000   PMID:26975850   PMID:27176045   PMID:27240594   PMID:27431199   PMID:27659325   PMID:27880917   PMID:27916173   PMID:28004534  
PMID:28240421   PMID:28323002   PMID:28402530   PMID:28406573   PMID:28485101   PMID:28514442   PMID:28592524   PMID:28738960   PMID:28924964   PMID:28936884   PMID:28973045   PMID:29117863  
PMID:29194579   PMID:29299781   PMID:29507755   PMID:29520710   PMID:29523788   PMID:29533940   PMID:29693114   PMID:29864155   PMID:30019121   PMID:30021884   PMID:30077386   PMID:30157923  
PMID:30194290   PMID:30427759   PMID:30530901   PMID:30581152   PMID:30842157   PMID:30896071   PMID:31194736   PMID:31393085   PMID:31791578   PMID:31811830   PMID:31871319   PMID:32031713  
PMID:32203420   PMID:32213157   PMID:32296183   PMID:32460013   PMID:32620618   PMID:32687658   PMID:33037408   PMID:33236535   PMID:33318575   PMID:33397691   PMID:33545068   PMID:33714986  
PMID:33767589   PMID:33957083   PMID:33961781   PMID:34021307   PMID:34079125   PMID:34268498   PMID:34414975   PMID:34490644   PMID:34674267   PMID:35227688   PMID:35236289   PMID:35337019  
PMID:35348658   PMID:35534675   PMID:35584116   PMID:35831314   PMID:35844135   PMID:36029493   PMID:36042257   PMID:36277474  


Genomics

Comparative Map Data
ROBO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38378,597,239 - 79,767,998 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl378,597,239 - 79,767,998 (-)EnsemblGRCh38hg38GRCh38
GRCh37378,646,389 - 79,817,148 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36378,729,080 - 79,721,751 (-)NCBINCBI36Build 36hg18NCBI36
Build 34378,729,079 - 79,721,751NCBI
Celera379,390,331 - 80,561,510 (-)NCBICelera
Cytogenetic Map3p12.3NCBI
HuRef378,666,127 - 79,837,569 (-)NCBIHuRef
CHM1_1378,599,244 - 79,770,223 (-)NCBICHM1_1
T2T-CHM13v2.0378,652,524 - 79,823,991 (-)NCBIT2T-CHM13v2.0
Robo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391671,824,406 - 72,844,379 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1672,105,194 - 72,842,983 (+)EnsemblGRCm39 Ensembl
GRCm381672,027,518 - 73,047,491 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1672,308,306 - 73,046,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371672,663,394 - 73,046,345 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361672,546,574 - 72,928,773 (+)NCBIMGSCv36mm8
Celera1672,912,535 - 73,307,241 (+)NCBICelera
Cytogenetic Map16C3.1NCBI
Robo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21110,580,863 - 11,621,672 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1110,580,908 - 11,620,203 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1119,201,886 - 20,247,920 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01111,929,017 - 12,975,115 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01111,103,305 - 12,145,678 (+)NCBIRnor_WKY
Rnor_6.0119,079,291 - 10,146,302 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl119,642,365 - 10,143,317 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01113,314,508 - 13,808,775 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41110,784,947 - 11,720,646 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11110,784,946 - 11,720,646 (+)NCBI
Celera1110,598,877 - 11,659,942 (+)NCBICelera
Cytogenetic Map11p11NCBI
Robo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540713,107,235 - 13,487,053 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540712,593,911 - 13,485,723 (+)NCBIChiLan1.0ChiLan1.0
ROBO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1380,579,716 - 81,001,219 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl380,581,388 - 81,569,308 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0378,707,802 - 79,876,519 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ROBO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1318,082,363 - 8,594,623 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl317,626,126 - 8,593,728 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha317,536,253 - 8,593,279 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0317,481,760 - 8,614,235 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl317,640,944 - 8,614,236 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1317,442,809 - 8,564,392 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0317,499,515 - 8,626,174 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0317,883,361 - 9,008,850 (+)NCBIUU_Cfam_GSD_1.0
Robo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049718,782,876 - 9,791,545 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365054,330,303 - 4,709,655 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365054,329,428 - 4,711,310 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ROBO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13175,348,410 - 176,479,481 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113175,348,223 - 176,479,482 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213186,417,282 - 186,884,529 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ROBO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12297,178,093 - 98,363,647 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2298,222,891 - 98,363,219 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604168,583,685 - 69,736,220 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Robo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248744,949,538 - 5,357,690 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248744,234,640 - 5,359,333 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ROBO1
169 total Variants
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pOncomiRDBexternal_infoNANA21385904
MIR218-2hsa-miR-218-5pOncomiRDBexternal_infoNANA20300657
MIR217hsa-miR-217Mirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20300657

Predicted Target Of
Summary Value
Count of predictions:2310
Count of miRNA genes:834
Interacting mature miRNAs:957
Transcripts:ENST00000436010, ENST00000464233, ENST00000466906, ENST00000467549, ENST00000472273, ENST00000484514, ENST00000488735, ENST00000492990, ENST00000495273, ENST00000495961, ENST00000498428
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D3S1274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,871,209 - 78,871,336UniSTSGRCh37
Build 36378,953,899 - 78,954,026RGDNCBI36
Celera379,615,103 - 79,615,230RGD
Cytogenetic Map3p12UniSTS
HuRef378,890,738 - 78,890,865UniSTS
Marshfield Genetic Map3109.22RGD
Marshfield Genetic Map3109.22UniSTS
Genethon Genetic Map3108.8UniSTS
deCODE Assembly Map3107.18UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,572,287 - 79,572,539UniSTSGRCh37
GRCh37379,572,287 - 79,572,413UniSTSGRCh37
Build 36379,654,977 - 79,655,229RGDNCBI36
Celera380,315,997 - 80,316,248RGD
Celera380,315,997 - 80,316,122UniSTS
HuRef379,592,433 - 79,592,683UniSTS
HuRef379,592,433 - 79,592,557UniSTS
Marshfield Genetic Map3109.22RGD
Genethon Genetic Map3108.8UniSTS
TNG Radiation Hybrid Map351625.0UniSTS
deCODE Assembly Map3107.43UniSTS
Stanford-G3 RH Map33665.0UniSTS
GeneMap99-GB4 RH Map3222.61UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3617.5UniSTS
GeneMap99-G3 RH Map33634.0UniSTS
D3S3681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,811,728 - 79,811,953UniSTSGRCh37
Build 36379,894,418 - 79,894,643RGDNCBI36
Celera380,556,175 - 80,556,404RGD
Cytogenetic Map3p12UniSTS
HuRef379,832,220 - 79,832,463UniSTS
Marshfield Genetic Map3109.22UniSTS
Marshfield Genetic Map3109.22RGD
Genethon Genetic Map3108.8UniSTS
TNG Radiation Hybrid Map351704.0UniSTS
deCODE Assembly Map3107.43UniSTS
Stanford-G3 RH Map33652.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3623.4UniSTS
GeneMap99-G3 RH Map33621.0UniSTS
D3S3049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,909,240 - 78,909,419UniSTSGRCh37
Build 36378,991,930 - 78,992,109RGDNCBI36
Celera379,653,147 - 79,653,326RGD
Cytogenetic Map3p12UniSTS
Cytogenetic Map3p12-q13UniSTS
HuRef378,928,744 - 78,928,928UniSTS
Marshfield Genetic Map3109.22UniSTS
Marshfield Genetic Map3109.22RGD
deCODE Assembly Map3107.18UniSTS
Whitehead-RH Map3270.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3632.0UniSTS
SHGC-77118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,909,496 - 78,909,645UniSTSGRCh37
Build 36378,992,186 - 78,992,335RGDNCBI36
Celera379,653,408 - 79,653,557RGD
Cytogenetic Map3p12UniSTS
HuRef378,929,008 - 78,929,157UniSTS
TNG Radiation Hybrid Map342991.0UniSTS
GeneMap99-GB4 RH Map3222.51UniSTS
Whitehead-RH Map3276.4UniSTS
NCBI RH Map3631.2UniSTS
D11S3972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371149,814,181 - 49,814,416UniSTSGRCh37
GRCh37378,845,275 - 78,845,510UniSTSGRCh37
Build 36378,927,965 - 78,928,200RGDNCBI36
Celera379,589,192 - 79,589,427RGD
Celera1149,965,107 - 49,965,342UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map11p11.12UniSTS
HuRef378,864,838 - 78,865,073UniSTS
HuRef1149,531,605 - 49,531,840UniSTS
Whitehead-YAC Contig Map11 UniSTS
SHGC-77115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,969,997 - 78,970,214UniSTSGRCh37
Build 36379,052,687 - 79,052,904RGDNCBI36
Celera379,713,918 - 79,714,135RGD
Cytogenetic Map3p12UniSTS
HuRef378,989,779 - 78,989,996UniSTS
TNG Radiation Hybrid Map342961.0UniSTS
GeneMap99-GB4 RH Map3218.05UniSTS
NCBI RH Map3626.8UniSTS
SHGC-35070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,795,851 - 78,795,981UniSTSGRCh37
Build 36378,878,541 - 78,878,671RGDNCBI36
Celera379,539,782 - 79,539,912RGD
Cytogenetic Map3p12UniSTS
HuRef378,815,428 - 78,815,558UniSTS
GeneMap99-GB4 RH Map3225.35UniSTS
Whitehead-RH Map3270.7UniSTS
NCBI RH Map3633.6UniSTS
GeneMap99-G3 RH Map33615.0UniSTS
SHGC-81445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,788,604 - 79,788,896UniSTSGRCh37
Build 36379,871,294 - 79,871,586RGDNCBI36
Celera380,533,055 - 80,533,347RGD
Cytogenetic Map3p12UniSTS
HuRef379,809,161 - 79,809,453UniSTS
TNG Radiation Hybrid Map351689.0UniSTS
SHGC-84894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,652,173 - 78,652,443UniSTSGRCh37
Build 36378,734,863 - 78,735,133RGDNCBI36
Celera379,396,114 - 79,396,384RGD
Cytogenetic Map3p12UniSTS
HuRef378,671,910 - 78,672,180UniSTS
TNG Radiation Hybrid Map343098.0UniSTS
RH120311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,671,586 - 78,671,886UniSTSGRCh37
Build 36378,754,276 - 78,754,576RGDNCBI36
Celera379,415,527 - 79,415,827RGD
Cytogenetic Map3p12UniSTS
HuRef378,691,325 - 78,691,625UniSTS
TNG Radiation Hybrid Map343092.0UniSTS
RH120182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,848,284 - 78,848,433UniSTSGRCh37
Build 36378,930,974 - 78,931,123RGDNCBI36
Celera379,592,201 - 79,592,350RGD
Cytogenetic Map3p12UniSTS
HuRef378,867,847 - 78,867,996UniSTS
TNG Radiation Hybrid Map343022.0UniSTS
RH120016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,829,969 - 78,830,310UniSTSGRCh37
Build 36378,912,659 - 78,913,000RGDNCBI36
Celera379,573,889 - 79,574,230RGD
Cytogenetic Map3p12UniSTS
HuRef378,849,537 - 78,849,878UniSTS
TNG Radiation Hybrid Map343029.0UniSTS
RH119517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,649,491 - 79,649,762UniSTSGRCh37
Build 36379,732,181 - 79,732,452RGDNCBI36
Celera380,394,198 - 80,394,469RGD
Cytogenetic Map3p12UniSTS
HuRef379,669,951 - 79,670,222UniSTS
TNG Radiation Hybrid Map351638.0UniSTS
G59233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,076,036 - 79,076,344UniSTSGRCh37
Build 36379,158,726 - 79,159,034RGDNCBI36
Celera379,819,952 - 79,820,260RGD
Cytogenetic Map3p12UniSTS
HuRef379,095,839 - 79,096,147UniSTS
TNG Radiation Hybrid Map342932.0UniSTS
G63203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,704,474 - 78,704,771UniSTSGRCh37
Build 36378,787,164 - 78,787,461RGDNCBI36
Celera379,448,422 - 79,448,719RGD
Cytogenetic Map3p12UniSTS
HuRef378,724,217 - 78,724,514UniSTS
TNG Radiation Hybrid Map343072.0UniSTS
D3S3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,271,786 - 79,272,579UniSTSGRCh37
Build 36379,354,476 - 79,355,269RGDNCBI36
Celera380,015,706 - 80,016,499RGD
Cytogenetic Map3p12UniSTS
HuRef379,291,628 - 79,292,421UniSTS
D3S1669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,165,371 - 79,165,781UniSTSGRCh37
Build 36379,248,061 - 79,248,471RGDNCBI36
Celera379,909,299 - 79,909,709RGD
Cytogenetic Map3p12UniSTS
HuRef379,185,215 - 79,185,625UniSTS
D3S2498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,924,825 - 78,924,976UniSTSGRCh37
Build 36379,007,515 - 79,007,666RGDNCBI36
Celera379,668,737 - 79,668,888RGD
Cytogenetic Map3p12UniSTS
HuRef378,944,337 - 78,944,488UniSTS
D3S2499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,524,072 - 79,524,223UniSTSGRCh37
GRCh37379,522,611 - 79,524,223UniSTSGRCh37
Build 36379,606,762 - 79,606,913RGDNCBI36
Celera380,266,574 - 80,268,186UniSTS
Celera380,268,035 - 80,268,186RGD
Cytogenetic Map3p12UniSTS
HuRef379,542,783 - 79,544,395UniSTS
HuRef379,544,244 - 79,544,395UniSTS
D3S2500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,592,609 - 79,592,884UniSTSGRCh37
Build 36379,675,299 - 79,675,574RGDNCBI36
Celera380,337,081 - 80,337,356RGD
Cytogenetic Map3p12UniSTS
HuRef379,612,738 - 79,613,013UniSTS
D3S2503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,175,985 - 79,176,706UniSTSGRCh37
Build 36379,258,675 - 79,259,396RGDNCBI36
Celera379,919,913 - 79,920,634RGD
Cytogenetic Map3p12UniSTS
HuRef379,195,829 - 79,196,550UniSTS
D3S2504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,211,390 - 79,212,895UniSTSGRCh37
Build 36379,294,080 - 79,295,585RGDNCBI36
Celera379,955,306 - 79,956,811RGD
Cytogenetic Map3p12UniSTS
HuRef379,231,232 - 79,232,737UniSTS
D3S2505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,302,904 - 79,303,873UniSTSGRCh37
Build 36379,385,594 - 79,386,563RGDNCBI36
Celera380,046,824 - 80,047,793RGD
Cytogenetic Map3p12UniSTS
HuRef379,323,032 - 79,324,001UniSTS
D3S2507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,699,945 - 79,701,232UniSTSGRCh37
Build 36379,782,635 - 79,783,922RGDNCBI36
Celera380,444,137 - 80,445,356RGD
Cytogenetic Map3p12UniSTS
HuRef379,720,503 - 79,721,790UniSTS
D3S2509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,269,684 - 79,270,542UniSTSGRCh37
Build 36379,352,374 - 79,353,232RGDNCBI36
Celera380,013,604 - 80,014,462RGD
Cytogenetic Map3p12UniSTS
HuRef379,289,526 - 79,290,384UniSTS
D3S2510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,635,445 - 79,635,920UniSTSGRCh37
Build 36379,718,135 - 79,718,610RGDNCBI36
Celera380,380,098 - 80,380,573RGD
Cytogenetic Map3p12UniSTS
D3S2511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,276,920 - 79,277,754UniSTSGRCh37
Build 36379,359,610 - 79,360,444RGDNCBI36
Celera380,020,840 - 80,021,674RGD
Cytogenetic Map3p12UniSTS
HuRef379,296,762 - 79,297,596UniSTS
D3S2512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,693,967 - 78,694,109UniSTSGRCh37
Build 36378,776,657 - 78,776,799RGDNCBI36
Celera379,437,913 - 79,438,055RGD
Cytogenetic Map3p12UniSTS
HuRef378,713,708 - 78,713,850UniSTS
D3S2513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,565,396 - 79,566,111UniSTSGRCh37
Build 36379,648,086 - 79,648,801RGDNCBI36
Celera380,309,175 - 80,309,819RGD
Cytogenetic Map3p12UniSTS
HuRef379,585,541 - 79,586,256UniSTS
D3S2514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,143,095 - 79,143,920UniSTSGRCh37
Build 36379,225,785 - 79,226,610RGDNCBI36
Celera379,887,023 - 79,887,848RGD
Cytogenetic Map3p12UniSTS
HuRef379,162,987 - 79,163,812UniSTS
D3S2552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,769,622 - 79,770,218UniSTSGRCh37
Build 36379,852,312 - 79,852,908RGDNCBI36
Celera380,514,031 - 80,514,629RGD
Cytogenetic Map3p12UniSTS
HuRef1659,931,396 - 59,931,837UniSTS
HuRef379,790,180 - 79,790,775UniSTS
D3S2840E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371149,814,224 - 49,814,371UniSTSGRCh37
GRCh37378,845,318 - 78,845,465UniSTSGRCh37
Build 36378,928,008 - 78,928,155RGDNCBI36
Celera1149,965,150 - 49,965,297UniSTS
Celera379,589,235 - 79,589,382RGD
Cytogenetic Map11p11.12UniSTS
Cytogenetic Map3p12UniSTS
HuRef1149,531,648 - 49,531,795UniSTS
HuRef378,864,881 - 78,865,028UniSTS
D3S3474E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,786,967 - 79,787,032UniSTSGRCh37
Build 36379,869,657 - 79,869,722RGDNCBI36
Celera380,531,418 - 80,531,483RGD
Cytogenetic Map3p12UniSTS
HuRef379,807,524 - 79,807,589UniSTS
SHGC-110573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,190,286 - 79,190,614UniSTSGRCh37
Build 36379,272,976 - 79,273,304RGDNCBI36
Celera379,934,212 - 79,934,540RGD
Cytogenetic Map3p12UniSTS
HuRef379,210,127 - 79,210,455UniSTS
TNG Radiation Hybrid Map342904.0UniSTS
SHGC-110600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,441,398 - 79,441,702UniSTSGRCh37
Build 36379,524,088 - 79,524,392RGDNCBI36
Celera380,185,318 - 80,185,622RGD
Cytogenetic Map3p12UniSTS
HuRef379,461,526 - 79,461,830UniSTS
TNG Radiation Hybrid Map351559.0UniSTS
SHGC-110680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,387,366 - 79,387,701UniSTSGRCh37
Build 36379,470,056 - 79,470,391RGDNCBI36
Celera380,131,288 - 80,131,623RGD
Cytogenetic Map3p12UniSTS
HuRef379,407,491 - 79,407,826UniSTS
TNG Radiation Hybrid Map351534.0UniSTS
SHGC-111359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,151,757 - 79,152,099UniSTSGRCh37
Build 36379,234,447 - 79,234,789RGDNCBI36
Celera379,895,685 - 79,896,027RGD
Cytogenetic Map3p12UniSTS
HuRef379,171,601 - 79,171,943UniSTS
TNG Radiation Hybrid Map342915.0UniSTS
SHGC-111365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,491,376 - 79,491,671UniSTSGRCh37
Build 36379,574,066 - 79,574,361RGDNCBI36
Celera380,235,311 - 80,235,606RGD
Cytogenetic Map3p12UniSTS
HuRef379,511,550 - 79,511,845UniSTS
TNG Radiation Hybrid Map351566.0UniSTS
SHGC-112294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,772,352 - 79,772,695UniSTSGRCh37
Build 36379,855,042 - 79,855,385RGDNCBI36
Celera380,516,763 - 80,517,106RGD
Cytogenetic Map3p12UniSTS
HuRef379,792,909 - 79,793,252UniSTS
TNG Radiation Hybrid Map351689.0UniSTS
SHGC-146035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,474,655 - 79,474,930UniSTSGRCh37
Build 36379,557,345 - 79,557,620RGDNCBI36
Celera380,218,566 - 80,218,841RGD
Cytogenetic Map3p12UniSTS
HuRef379,494,830 - 79,495,105UniSTS
TNG Radiation Hybrid Map351569.0UniSTS
SHGC-148459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,338,430 - 79,338,736UniSTSGRCh37
Build 36379,421,120 - 79,421,426RGDNCBI36
Celera380,082,350 - 80,082,656RGD
Cytogenetic Map3p12UniSTS
HuRef379,358,554 - 79,358,860UniSTS
TNG Radiation Hybrid Map351504.0UniSTS
SHGC-35216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,872,371 - 78,872,498UniSTSGRCh37
Build 36378,955,061 - 78,955,188RGDNCBI36
Celera379,616,264 - 79,616,391RGD
Cytogenetic Map3p12UniSTS
HuRef378,891,899 - 78,892,026UniSTS
GeneMap99-GB4 RH Map3222.41UniSTS
GeneMap99-GB4 RH Map3232.15UniSTS
Whitehead-RH Map3276.4UniSTS
NCBI RH Map3630.3UniSTS
GeneMap99-G3 RH Map33615.0UniSTS
SHGC-154157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,727,025 - 79,727,323UniSTSGRCh37
Build 36379,809,715 - 79,810,013RGDNCBI36
Celera380,471,175 - 80,471,473RGD
Cytogenetic Map3p12UniSTS
HuRef379,747,576 - 79,747,874UniSTS
TNG Radiation Hybrid Map351670.0UniSTS
SHGC-154706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,783,840 - 79,784,110UniSTSGRCh37
Build 36379,866,530 - 79,866,800RGDNCBI36
Celera380,528,290 - 80,528,560RGD
Cytogenetic Map3p12UniSTS
HuRef379,804,396 - 79,804,666UniSTS
TNG Radiation Hybrid Map351686.0UniSTS
SHGC-112052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,962,740 - 78,963,013UniSTSGRCh37
Build 36379,045,430 - 79,045,703RGDNCBI36
Celera379,706,660 - 79,706,933RGD
Cytogenetic Map3p12UniSTS
HuRef378,982,287 - 78,982,560UniSTS
TNG Radiation Hybrid Map342968.0UniSTS
SHGC-70139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,802,865 - 79,803,140UniSTSGRCh37
Build 36379,885,555 - 79,885,830RGDNCBI36
Celera380,547,314 - 80,547,589RGD
Cytogenetic Map3p12UniSTS
HuRef379,823,420 - 79,823,695UniSTS
TNG Radiation Hybrid Map351695.0UniSTS
G19159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,252,330 - 79,252,545UniSTSGRCh37
Build 36379,335,020 - 79,335,235RGDNCBI36
Celera379,996,252 - 79,996,467RGD
Cytogenetic Map3p12UniSTS
HuRef379,272,175 - 79,272,390UniSTS
D3S4451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,352,611 - 79,353,466UniSTSGRCh37
Build 36379,435,301 - 79,436,156RGDNCBI36
Celera380,096,531 - 80,097,386RGD
HuRef379,372,735 - 79,373,590UniSTS
D3S4492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,987,802 - 78,987,898UniSTSGRCh37
Build 36379,070,492 - 79,070,588RGDNCBI36
Celera375,861,503 - 75,861,599RGD
Celera379,731,724 - 79,731,820UniSTS
Cytogenetic Map3p12UniSTS
HuRef379,007,580 - 79,007,676UniSTS
RH16327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,795,991 - 78,796,128UniSTSGRCh37
Build 36378,878,681 - 78,878,818RGDNCBI36
Celera379,539,922 - 79,540,059RGD
Cytogenetic Map3p12UniSTS
HuRef378,815,568 - 78,815,705UniSTS
GeneMap99-GB4 RH Map3229.42UniSTS
NCBI RH Map3635.4UniSTS
RH44887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,656,081 - 78,656,191UniSTSGRCh37
Build 36378,738,771 - 78,738,881RGDNCBI36
Celera375,865,596 - 75,865,706RGD
Celera379,400,022 - 79,400,132UniSTS
Cytogenetic Map3p12UniSTS
HuRef378,675,818 - 78,675,928UniSTS
GeneMap99-GB4 RH Map3218.77UniSTS
RH45408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,970,152 - 78,970,285UniSTSGRCh37
Build 36379,052,842 - 79,052,975RGDNCBI36
Celera379,714,073 - 79,714,206RGD
Cytogenetic Map3p12UniSTS
HuRef378,989,934 - 78,990,067UniSTS
GeneMap99-GB4 RH Map3229.42UniSTS
NCBI RH Map3635.4UniSTS
SHGC-10600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,007,075 - 79,007,165UniSTSGRCh37
Build 36379,089,765 - 79,089,855RGDNCBI36
Celera379,750,998 - 79,751,088RGD
Cytogenetic Map3p12UniSTS
HuRef379,026,854 - 79,026,944UniSTS
G35125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,545,382 - 79,545,528UniSTSGRCh37
Build 36379,628,072 - 79,628,218RGDNCBI36
Cytogenetic Map3p12UniSTS
HuRef379,565,594 - 79,565,740UniSTS
D3S2975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,778,145 - 79,778,348UniSTSGRCh37
Build 36379,860,835 - 79,861,038RGDNCBI36
Celera380,522,594 - 80,522,797RGD
Cytogenetic Map3p12UniSTS
HuRef379,798,701 - 79,798,904UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH47423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,900,969 - 78,901,059UniSTSGRCh37
Build 36378,983,659 - 78,983,749RGDNCBI36
Celera379,644,874 - 79,644,964RGD
Cytogenetic Map3p12UniSTS
HuRef378,920,474 - 78,920,564UniSTS
GeneMap99-GB4 RH Map3219.18UniSTS
NCBI RH Map3625.9UniSTS
D3S3962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,249,234 - 79,249,460UniSTSGRCh37
Build 36379,331,924 - 79,332,150RGDNCBI36
Celera379,993,156 - 79,993,382RGD
Cytogenetic Map3p12UniSTS
HuRef379,269,079 - 79,269,305UniSTS
Whitehead-RH Map3277.3UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3620.9UniSTS
D3S3073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37379,355,589 - 79,355,838UniSTSGRCh37
Build 36379,438,279 - 79,438,528RGDNCBI36
Celera380,099,509 - 80,099,758RGD
Cytogenetic Map3p12UniSTS
HuRef379,375,713 - 79,375,962UniSTS
Whitehead-RH Map3272.9UniSTS
Whitehead-YAC Contig Map3 UniSTS
SHGC-77117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37378,646,526 - 78,646,648UniSTSGRCh37
Build 36378,729,216 - 78,729,338RGDNCBI36
Celera379,390,469 - 79,390,591RGD
Cytogenetic Map3p12UniSTS
HuRef378,666,265 - 78,666,387UniSTS
TNG Radiation Hybrid Map343107.0UniSTS
GeneMap99-GB4 RH Map3219.76UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
UniSTS:498508  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera375,862,035 - 75,862,939UniSTS
fi28b09.x1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371039,055,832 - 39,056,086UniSTSGRCh37
GRCh37378,753,757 - 78,753,905UniSTSGRCh37
Celera379,497,695 - 79,497,843UniSTS
HuRef378,773,421 - 78,773,569UniSTS
D3S1604  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p12UniSTS
Marshfield Genetic Map3109.22UniSTS
Genethon Genetic Map3108.8UniSTS
deCODE Assembly Map3107.43UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1604  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p12UniSTS
TNG Radiation Hybrid Map351625.0UniSTS
Stanford-G3 RH Map33665.0UniSTS
GeneMap99-GB4 RH Map3222.61UniSTS
NCBI RH Map3617.5UniSTS
GeneMap99-G3 RH Map33634.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 503 1018 480 100 262 94 2644 77 1383 76 926 532 9 466 1454 2
Low 1878 1198 1193 474 721 320 1698 2088 2345 325 516 1065 162 1 738 1323 2 1
Below cutoff 28 732 53 49 789 50 11 28 6 15 11 13 2 11 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC055731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC157861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP228659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000436010   ⟹   ENSP00000406043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,597,246 - 79,019,459 (-)Ensembl
RefSeq Acc Id: ENST00000464233   ⟹   ENSP00000420321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,597,239 - 79,767,998 (-)Ensembl
RefSeq Acc Id: ENST00000466906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,600,113 - 78,607,289 (-)Ensembl
RefSeq Acc Id: ENST00000467549   ⟹   ENSP00000417992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,598,811 - 79,018,544 (-)Ensembl
RefSeq Acc Id: ENST00000472273   ⟹   ENSP00000418946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,627,407 - 78,634,580 (-)Ensembl
RefSeq Acc Id: ENST00000484514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,659,939 - 78,715,257 (-)Ensembl
RefSeq Acc Id: ENST00000488735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,692,888 - 78,714,520 (-)Ensembl
RefSeq Acc Id: ENST00000492990   ⟹   ENSP00000419915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl379,512,805 - 79,589,942 (-)Ensembl
RefSeq Acc Id: ENST00000495273   ⟹   ENSP00000420637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,598,688 - 79,019,015 (-)Ensembl
RefSeq Acc Id: ENST00000495961   ⟹   ENSP00000418553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,667,883 - 78,670,242 (-)Ensembl
RefSeq Acc Id: ENST00000498428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,606,808 - 78,670,540 (-)Ensembl
RefSeq Acc Id: ENST00000618833   ⟹   ENSP00000477976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,597,240 - 79,019,459 (-)Ensembl
RefSeq Acc Id: ENST00000618846   ⟹   ENSP00000482448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl378,597,246 - 79,019,459 (-)Ensembl
RefSeq Acc Id: NM_001145845   ⟹   NP_001139317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,019,459 (-)NCBI
GRCh37378,646,388 - 79,817,059 (-)ENTREZGENE
HuRef378,666,127 - 79,837,569 (-)ENTREZGENE
CHM1_1378,599,244 - 79,021,439 (-)NCBI
T2T-CHM13v2.0378,652,524 - 79,074,299 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002941   ⟹   NP_002932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
GRCh37378,646,388 - 79,817,059 (-)ENTREZGENE
Build 36378,729,080 - 79,721,751 (-)NCBI Archive
HuRef378,666,127 - 79,837,569 (-)ENTREZGENE
CHM1_1378,599,244 - 79,770,223 (-)NCBI
T2T-CHM13v2.0378,652,524 - 79,823,991 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133631   ⟹   NP_598334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,019,459 (-)NCBI
GRCh37378,646,388 - 79,817,059 (-)ENTREZGENE
Build 36378,729,080 - 79,151,264 (-)NCBI Archive
HuRef378,666,127 - 79,837,569 (-)ENTREZGENE
CHM1_1378,599,244 - 79,021,439 (-)NCBI
T2T-CHM13v2.0378,652,524 - 79,074,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713277   ⟹   XP_006713340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,019,459 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533976   ⟹   XP_011532278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533977   ⟹   XP_011532279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533978   ⟹   XP_011532280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533979   ⟹   XP_011532281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533980   ⟹   XP_011532282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006982   ⟹   XP_016862471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006983   ⟹   XP_016862472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,019,459 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006984   ⟹   XP_016862473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006985   ⟹   XP_016862474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,017,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448661   ⟹   XP_047304617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
RefSeq Acc Id: XM_047448662   ⟹   XP_047304618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 78,950,801 (-)NCBI
RefSeq Acc Id: XM_047448663   ⟹   XP_047304619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,019,459 (-)NCBI
RefSeq Acc Id: XM_047448664   ⟹   XP_047304620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,767,998 (-)NCBI
RefSeq Acc Id: XM_047448665   ⟹   XP_047304621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38378,597,239 - 79,019,459 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001139317 (Get FASTA)   NCBI Sequence Viewer  
  NP_002932 (Get FASTA)   NCBI Sequence Viewer  
  NP_598334 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713340 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532278 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532279 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532280 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532281 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532282 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862471 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862472 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862473 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862474 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304617 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304618 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304619 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304620 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304621 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39575 (Get FASTA)   NCBI Sequence Viewer  
  AAH01969 (Get FASTA)   NCBI Sequence Viewer  
  AAI12337 (Get FASTA)   NCBI Sequence Viewer  
  AAI15021 (Get FASTA)   NCBI Sequence Viewer  
  AAI15023 (Get FASTA)   NCBI Sequence Viewer  
  AAI57862 (Get FASTA)   NCBI Sequence Viewer  
  AAI71855 (Get FASTA)   NCBI Sequence Viewer  
  BAG59902 (Get FASTA)   NCBI Sequence Viewer  
  BAH13173 (Get FASTA)   NCBI Sequence Viewer  
  CAD98093 (Get FASTA)   NCBI Sequence Viewer  
  EAW68884 (Get FASTA)   NCBI Sequence Viewer  
  EAW68885 (Get FASTA)   NCBI Sequence Viewer  
  EAW68886 (Get FASTA)   NCBI Sequence Viewer  
  EAW68887 (Get FASTA)   NCBI Sequence Viewer  
  EAW68888 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y6N7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002932   ⟸   NM_002941
- Peptide Label: isoform a precursor
- UniProtKB: Q9BUS7 (UniProtKB/Swiss-Prot),   Q9Y6N7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139317   ⟸   NM_001145845
- Peptide Label: isoform d
- UniProtKB: Q9Y6N7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_598334   ⟸   NM_133631
- Peptide Label: isoform b
- UniProtKB: Q9Y6N7 (UniProtKB/Swiss-Prot),   Q1RMC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713340   ⟸   XM_006713277
- Peptide Label: isoform X5
- UniProtKB: Q9Y6N7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532282   ⟸   XM_011533980
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011532280   ⟸   XM_011533978
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011532281   ⟸   XM_011533979
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011532278   ⟸   XM_011533976
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011532279   ⟸   XM_011533977
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016862473   ⟸   XM_017006984
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016862471   ⟸   XM_017006982
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016862472   ⟸   XM_017006983
- Peptide Label: isoform X7
- UniProtKB: Q9Y6N7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862474   ⟸   XM_017006985
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: ENSP00000420321   ⟸   ENST00000464233
RefSeq Acc Id: ENSP00000417992   ⟸   ENST00000467549
RefSeq Acc Id: ENSP00000419915   ⟸   ENST00000492990
RefSeq Acc Id: ENSP00000418553   ⟸   ENST00000495961
RefSeq Acc Id: ENSP00000420637   ⟸   ENST00000495273
RefSeq Acc Id: ENSP00000477976   ⟸   ENST00000618833
RefSeq Acc Id: ENSP00000482448   ⟸   ENST00000618846
RefSeq Acc Id: ENSP00000418946   ⟸   ENST00000472273
RefSeq Acc Id: ENSP00000406043   ⟸   ENST00000436010
RefSeq Acc Id: XP_047304620   ⟸   XM_047448664
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047304617   ⟸   XM_047448661
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047304621   ⟸   XM_047448665
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047304619   ⟸   XM_047448663
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047304618   ⟸   XM_047448662
- Peptide Label: isoform X6
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6N7-F1-model_v2 AlphaFold Q9Y6N7 1-1651 view protein structure

Promoters
RGD ID:6865016
Promoter ID:EPDNEW_H5673
Type:initiation region
Name:ROBO1_1
Description:roundabout guidance receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5674  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38379,019,017 - 79,019,077EPDNEW
RGD ID:6800951
Promoter ID:HG_KWN:45572
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000398412,   ENST00000398414
Position:
Human AssemblyChrPosition (strand)Source
Build 36379,150,701 - 79,151,237 (-)MPROMDB
RGD ID:6801540
Promoter ID:HG_KWN:45573
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001145845,   NM_133631,   UC003DQB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36379,151,021 - 79,151,521 (-)MPROMDB
RGD ID:6865018
Promoter ID:EPDNEW_H5674
Type:initiation region
Name:ROBO1_2
Description:roundabout guidance receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5673  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38379,767,993 - 79,768,053EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002941.4(ROBO1):c.2882+1G>T single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001290382] Chr3:78646147 [GRCh38]
Chr3:78695297 [GRCh37]
Chr3:3p12.3
pathogenic
NM_002941.4(ROBO1):c.1342+1G>A single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001290318] Chr3:78685745 [GRCh38]
Chr3:78734895 [GRCh37]
Chr3:3p12.3
pathogenic
NM_002941.3(ROBO1):c.1046-2010A>C single nucleotide variant Lung cancer [RCV000093715] Chr3:78690782 [GRCh38]
Chr3:78739932 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.3(ROBO1):c.172+43618A>T single nucleotide variant Lung cancer [RCV000093717] Chr3:79081838 [GRCh38]
Chr3:79130988 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.3(ROBO1):c.88+86902C>A single nucleotide variant Lung cancer [RCV000093718] Chr3:79502922 [GRCh38]
Chr3:79552072 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.3(ROBO1):c.88+29846A>G single nucleotide variant Lung cancer [RCV000093719] Chr3:79559978 [GRCh38]
Chr3:79609128 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.3(ROBO1):c.-51+78239G>C single nucleotide variant Lung cancer [RCV000093720] Chr3:79689513 [GRCh38]
Chr3:79738663 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.3(ROBO1):c.-51+31647T>C single nucleotide variant Lung cancer [RCV000093721] Chr3:79736105 [GRCh38]
Chr3:79785255 [GRCh37]
Chr3:3p12.3
uncertain significance
GRCh38/hg38 3p12.3(chr3:78221882-79465461)x3 copy number gain See cases [RCV000051497] Chr3:78221882..79465461 [GRCh38]
Chr3:78271032..79514611 [GRCh37]
Chr3:78353722..79597301 [NCBI36]
Chr3:3p12.3
uncertain significance
GRCh38/hg38 3p12.3-12.2(chr3:79595164-81258230)x1 copy number loss See cases [RCV000051540] Chr3:79595164..81258230 [GRCh38]
Chr3:79644314..81307381 [GRCh37]
Chr3:79727004..81390071 [NCBI36]
Chr3:3p12.3-12.2
pathogenic
NM_002941.3(ROBO1):c.2618C>T (p.Ala873Val) single nucleotide variant Malignant melanoma [RCV000066194] Chr3:78651926 [GRCh38]
Chr3:78701076 [GRCh37]
Chr3:78783766 [NCBI36]
Chr3:3p12.3
not provided
NM_002941.3(ROBO1):c.70C>T (p.Leu24=) single nucleotide variant Malignant melanoma [RCV000066195] Chr3:79589842 [GRCh38]
Chr3:79638992 [GRCh37]
Chr3:79721682 [NCBI36]
Chr3:3p12.3
not provided
NM_002941.4(ROBO1):c.2924G>A (p.Trp975Ter) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001290383]|not provided [RCV001751551] Chr3:78639857 [GRCh38]
Chr3:78689007 [GRCh37]
Chr3:3p12.3
likely pathogenic|uncertain significance
NM_002941.4(ROBO1):c.2065T>C (p.Ser689Pro) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001290384]|not provided [RCV001751552] Chr3:78662016 [GRCh38]
Chr3:78711166 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.818T>C (p.Val273Ala) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001290307]|not provided [RCV002070108] Chr3:78717374 [GRCh38]
Chr3:78766524 [GRCh37]
Chr3:3p12.3
likely benign|uncertain significance
GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1 copy number loss See cases [RCV000135700] Chr3:76764260..89682935 [GRCh38]
Chr3:76813411..89732085 [GRCh37]
Chr3:76896101..89814775 [NCBI36]
Chr3:3p12.3-11.1
likely pathogenic
GRCh38/hg38 3p12.3(chr3:78139492-78690548)x3 copy number gain See cases [RCV000135526] Chr3:78139492..78690548 [GRCh38]
Chr3:78188643..78739698 [GRCh37]
Chr3:78271333..78822388 [NCBI36]
Chr3:3p12.3
pathogenic|likely benign
GRCh38/hg38 3p12.3(chr3:78701774-78968186)x1 copy number loss See cases [RCV000136389] Chr3:78701774..78968186 [GRCh38]
Chr3:78750924..79017336 [GRCh37]
Chr3:78833614..79100026 [NCBI36]
Chr3:3p12.3
likely benign
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1
pathogenic
GRCh38/hg38 3p12.3(chr3:78798490-79096208)x1 copy number loss See cases [RCV000140909] Chr3:78798490..79096208 [GRCh38]
Chr3:78847640..79145358 [GRCh37]
Chr3:78930330..79228048 [NCBI36]
Chr3:3p12.3
uncertain significance
GRCh38/hg38 3p12.3(chr3:79513424-79550313)x3 copy number gain See cases [RCV000141014] Chr3:79513424..79550313 [GRCh38]
Chr3:79562574..79599463 [GRCh37]
Chr3:79645264..79682153 [NCBI36]
Chr3:3p12.3
benign
GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1 copy number loss See cases [RCV000141881] Chr3:73824871..90453699 [GRCh38]
Chr3:73874022..90502849 [GRCh37]
Chr3:73956712..90585539 [NCBI36]
Chr3:3p13-11.1
pathogenic
GRCh38/hg38 3p12.3(chr3:78677264-79126033)x1 copy number loss See cases [RCV000142271] Chr3:78677264..79126033 [GRCh38]
Chr3:78726414..79175183 [GRCh37]
Chr3:78809104..79257873 [NCBI36]
Chr3:3p12.3
uncertain significance
GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1 copy number loss See cases [RCV000143665] Chr3:74649382..89495681 [GRCh38]
Chr3:74698533..89544831 [GRCh37]
Chr3:74781223..89627521 [NCBI36]
Chr3:3p12.3-11.1
pathogenic
NM_002941.4(ROBO1):c.1616A>G (p.Tyr539Cys) single nucleotide variant not provided [RCV000731959] Chr3:78668498 [GRCh38]
Chr3:78717648 [GRCh37]
Chr3:3p12.3
uncertain significance
GRCh37/hg19 3p12.3-12.2(chr3:79302526-80288252)x3 copy number gain See cases [RCV000446930] Chr3:79302526..80288252 [GRCh37]
Chr3:3p12.3-12.2
uncertain significance
GRCh37/hg19 3p12.3-12.2(chr3:79604120-81307181)x1 copy number loss See cases [RCV000446149] Chr3:79604120..81307181 [GRCh37]
Chr3:3p12.3-12.2
uncertain significance
GRCh37/hg19 3p12.2(chr3:79810845-80743447)x3 copy number gain See cases [RCV000448886] Chr3:79810845..80743447 [GRCh37]
Chr3:3p12.2
likely benign
GRCh37/hg19 3p12.3-12.2(chr3:79409920-81525880)x3 copy number gain See cases [RCV000510328] Chr3:79409920..81525880 [GRCh37]
Chr3:3p12.3-12.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p12.3(chr3:79051770-79203457)x3 copy number gain not provided [RCV000513150] Chr3:79051770..79203457 [GRCh37]
Chr3:3p12.3
uncertain significance
GRCh37/hg19 3p12.3(chr3:76240301-79418897)x1 copy number loss not provided [RCV000682274] Chr3:76240301..79418897 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup) duplication Heart, malformation of [RCV001290240]|not provided [RCV000678358] Chr3:78631281..78631282 [GRCh38]
Chr3:78680431..78680432 [GRCh37]
Chr3:3p12.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p12.3(chr3:78844274-78957109)x1 copy number loss not provided [RCV000742563] Chr3:78844274..78957109 [GRCh37]
Chr3:3p12.3
benign
GRCh37/hg19 3p12.3-12.2(chr3:79417704-81512863)x3 copy number gain not provided [RCV000742564] Chr3:79417704..81512863 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79637418-80131214)x3 copy number gain not provided [RCV000742565] Chr3:79637418..80131214 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79712822-79983002)x3 copy number gain not provided [RCV000742566] Chr3:79712822..79983002 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79712981-79990407)x3 copy number gain not provided [RCV000742567] Chr3:79712981..79990407 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79712981-80064264)x3 copy number gain not provided [RCV000742568] Chr3:79712981..80064264 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79724179-80064264)x3 copy number gain not provided [RCV000742569] Chr3:79724179..80064264 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79724179-80130323)x3 copy number gain not provided [RCV000742570] Chr3:79724179..80130323 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79724179-80143818)x3 copy number gain not provided [RCV000742571] Chr3:79724179..80143818 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.3-12.2(chr3:79764508-79927812)x1 copy number loss not provided [RCV000742572] Chr3:79764508..79927812 [GRCh37]
Chr3:3p12.3-12.2
benign
GRCh37/hg19 3p12.2(chr3:79805396-80143818)x3 copy number gain not provided [RCV000742573] Chr3:79805396..80143818 [GRCh37]
Chr3:3p12.2
benign
NM_002941.4(ROBO1):c.2370C>T (p.Asn790=) single nucleotide variant not provided [RCV000921351] Chr3:78659758 [GRCh38]
Chr3:78708908 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3927T>C (p.His1309=) single nucleotide variant not provided [RCV000926907] Chr3:78617990 [GRCh38]
Chr3:78667140 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2614+7G>A single nucleotide variant not provided [RCV000976005] Chr3:78657091 [GRCh38]
Chr3:78706241 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3219C>T (p.Tyr1073=) single nucleotide variant not provided [RCV000937334] Chr3:78635927 [GRCh38]
Chr3:78685077 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3626+8G>A single nucleotide variant not provided [RCV000983386] Chr3:78631153 [GRCh38]
Chr3:78680303 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.88+7G>T single nucleotide variant not provided [RCV000923514] Chr3:79589817 [GRCh38]
Chr3:79638967 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2840-7A>T single nucleotide variant not provided [RCV000915729] Chr3:78646197 [GRCh38]
Chr3:78695347 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4590G>A (p.Lys1530=) single nucleotide variant not provided [RCV000928985] Chr3:78606887 [GRCh38]
Chr3:78656037 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2211A>T (p.Val737=) single nucleotide variant not provided [RCV000966876] Chr3:78661139 [GRCh38]
Chr3:78710289 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2442+7G>A single nucleotide variant not provided [RCV000902410] Chr3:78659679 [GRCh38]
Chr3:78708829 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.178C>T (p.Arg60Cys) single nucleotide variant not provided [RCV000922351] Chr3:78938922 [GRCh38]
Chr3:78988072 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4599A>C (p.Glu1533Asp) single nucleotide variant not provided [RCV000968005] Chr3:78606878 [GRCh38]
Chr3:78656028 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3645A>G (p.Pro1215=) single nucleotide variant not provided [RCV000974996] Chr3:78627551 [GRCh38]
Chr3:78676701 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3560C>T (p.Pro1187Leu) single nucleotide variant not provided [RCV000917357] Chr3:78631227 [GRCh38]
Chr3:78680377 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3921T>G (p.Pro1307=) single nucleotide variant not provided [RCV000919469] Chr3:78617996 [GRCh38]
Chr3:78667146 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.88+6T>C single nucleotide variant not provided [RCV000973926] Chr3:79589818 [GRCh38]
Chr3:79638968 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.537C>T (p.Val179=) single nucleotide variant not provided [RCV000886478] Chr3:78746863 [GRCh38]
Chr3:78796013 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2691G>A (p.Pro897=) single nucleotide variant not provided [RCV000933165] Chr3:78651853 [GRCh38]
Chr3:78701003 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4650C>T (p.Pro1550=) single nucleotide variant not provided [RCV000914729] Chr3:78606827 [GRCh38]
Chr3:78655977 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2859C>T (p.Gly953=) single nucleotide variant not provided [RCV000962982] Chr3:78646171 [GRCh38]
Chr3:78695321 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3246C>T (p.Asn1082=) single nucleotide variant not provided [RCV000893590] Chr3:78635900 [GRCh38]
Chr3:78685050 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3626+10G>C single nucleotide variant not provided [RCV000975231] Chr3:78631151 [GRCh38]
Chr3:78680301 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.798G>A (p.Lys266=) single nucleotide variant not provided [RCV000964938] Chr3:78717394 [GRCh38]
Chr3:78766544 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.1752T>C (p.Asn584=) single nucleotide variant not provided [RCV000903513] Chr3:78668181 [GRCh38]
Chr3:78717331 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2615-10G>A single nucleotide variant not provided [RCV000899061] Chr3:78651939 [GRCh38]
Chr3:78701089 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3652G>A (p.Val1218Met) single nucleotide variant not provided [RCV000909412] Chr3:78627544 [GRCh38]
Chr3:78676694 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.831C>T (p.Asp277=) single nucleotide variant not provided [RCV000982694] Chr3:78717361 [GRCh38]
Chr3:78766511 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.699T>C (p.Ser233=) single nucleotide variant not provided [RCV000884429] Chr3:78717842 [GRCh38]
Chr3:78766992 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2817G>A (p.Pro939=) single nucleotide variant not provided [RCV000930322] Chr3:78647651 [GRCh38]
Chr3:78696801 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.658-7T>C single nucleotide variant not provided [RCV000893531] Chr3:78717890 [GRCh38]
Chr3:78767040 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1155G>A (p.Arg385=) single nucleotide variant not provided [RCV000896834] Chr3:78688663 [GRCh38]
Chr3:78737813 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.159G>A (p.Ser53=) single nucleotide variant not provided [RCV000897836] Chr3:79125469 [GRCh38]
Chr3:79174619 [GRCh37]
Chr3:3p12.3
benign
GRCh37/hg19 3p12.3(chr3:78491347-78709361)x3 copy number gain not provided [RCV001005448] Chr3:78491347..78709361 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4155C>T (p.Ser1385=) single nucleotide variant not provided [RCV000895639] Chr3:78617762 [GRCh38]
Chr3:78666912 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4513C>T (p.Pro1505Ser) single nucleotide variant not provided [RCV000907180] Chr3:78606964 [GRCh38]
Chr3:78656114 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2765G>A (p.Arg922His) single nucleotide variant not provided [RCV000907756] Chr3:78651779 [GRCh38]
Chr3:78700929 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3823T>C (p.Leu1275=) single nucleotide variant not provided [RCV000885979] Chr3:78627373 [GRCh38]
Chr3:78676523 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.173-4G>T single nucleotide variant not provided [RCV000909142] Chr3:78938931 [GRCh38]
Chr3:78988081 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4548A>G (p.Ala1516=) single nucleotide variant not provided [RCV000980585] Chr3:78606929 [GRCh38]
Chr3:78656079 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3102G>A (p.Glu1034=) single nucleotide variant not provided [RCV000955320] Chr3:78636044 [GRCh38]
Chr3:78685194 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2916G>A (p.Ala972=) single nucleotide variant not provided [RCV000908155] Chr3:78639865 [GRCh38]
Chr3:78689015 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1233C>T (p.Gly411=) single nucleotide variant not provided [RCV000974997] Chr3:78685855 [GRCh38]
Chr3:78735005 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2882+7A>C single nucleotide variant not provided [RCV000948654] Chr3:78646141 [GRCh38]
Chr3:78695291 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4744+6C>T single nucleotide variant not provided [RCV000885705] Chr3:78606727 [GRCh38]
Chr3:78655877 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2088+7T>G single nucleotide variant not provided [RCV000954085] Chr3:78661986 [GRCh38]
Chr3:78711136 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.1071C>A (p.Pro357=) single nucleotide variant not provided [RCV000888530] Chr3:78688747 [GRCh38]
Chr3:78737897 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3816G>C (p.Gln1272His) single nucleotide variant not provided [RCV000896232] Chr3:78627380 [GRCh38]
Chr3:78676530 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2880G>A (p.Gly960=) single nucleotide variant not provided [RCV000910974] Chr3:78646150 [GRCh38]
Chr3:78695300 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1224C>T (p.Ser408=) single nucleotide variant not provided [RCV000956777] Chr3:78685864 [GRCh38]
Chr3:78735014 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.4608T>C (p.Asp1536=) single nucleotide variant not provided [RCV000935001] Chr3:78606869 [GRCh38]
Chr3:78656019 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.4494G>A (p.Lys1498=) single nucleotide variant not provided [RCV000913949] Chr3:78606983 [GRCh38]
Chr3:78656133 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1565G>A (p.Arg522Gln) single nucleotide variant not provided [RCV000913979] Chr3:78668549 [GRCh38]
Chr3:78717699 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4803C>T (p.Pro1601=) single nucleotide variant not provided [RCV000912092] Chr3:78600251 [GRCh38]
Chr3:78649401 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4566A>C (p.Ser1522=) single nucleotide variant not provided [RCV000911719] Chr3:78606911 [GRCh38]
Chr3:78656061 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.702C>T (p.Asp234=) single nucleotide variant not provided [RCV000934324] Chr3:78717839 [GRCh38]
Chr3:78766989 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2238C>T (p.Asn746=) single nucleotide variant not provided [RCV000912949] Chr3:78661112 [GRCh38]
Chr3:78710262 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3986A>G (p.Glu1329Gly) single nucleotide variant not provided [RCV001528566] Chr3:78617931 [GRCh38]
Chr3:78667081 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.214G>A (p.Glu72Lys) single nucleotide variant not provided [RCV001529285] Chr3:78938886 [GRCh38]
Chr3:78988036 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4284C>T (p.Gly1428=) single nucleotide variant not provided [RCV001537133] Chr3:78614799 [GRCh38]
Chr3:78663949 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257296] Chr3:78633966 [GRCh38]
Chr3:78683116 [GRCh37]
Chr3:3p12.3
pathogenic|likely pathogenic
NM_002941.4(ROBO1):c.2929del (p.Ala977fs) deletion Pituitary stalk interruption syndrome [RCV001257293] Chr3:78639852 [GRCh38]
Chr3:78689002 [GRCh37]
Chr3:3p12.3
pathogenic|likely pathogenic
NM_002941.4(ROBO1):c.4823C>G (p.Ser1608Ter) single nucleotide variant Bilateral renal agenesis [RCV001290385] Chr3:78600231 [GRCh38]
Chr3:78649381 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257295] Chr3:78717822 [GRCh38]
Chr3:78766972 [GRCh37]
Chr3:3p12.3
pathogenic|conflicting interpretations of pathogenicity
NM_002941.4(ROBO1):c.526C>T (p.Pro176Ser) single nucleotide variant Bilateral renal agenesis [RCV001290396] Chr3:78746874 [GRCh38]
Chr3:78796024 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.1985del (p.Gln662fs) deletion Increased nuchal translucency [RCV001290241] Chr3:78662096 [GRCh38]
Chr3:78711246 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.4259G>T (p.Arg1420Leu) single nucleotide variant Intellectual disability [RCV001290250] Chr3:78617658 [GRCh38]
Chr3:78666808 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) single nucleotide variant Tetralogy of Fallot [RCV001290239] Chr3:78938745 [GRCh38]
Chr3:78987895 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.2840-1G>C single nucleotide variant Heart, malformation of [RCV001290242] Chr3:78646191 [GRCh38]
Chr3:78695341 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.4786AAT[1] (p.Asn1597del) microsatellite Heart, malformation of [RCV001290244] Chr3:78600263..78600265 [GRCh38]
Chr3:78649413..78649415 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser) single nucleotide variant Pituitary stalk interruption syndrome [RCV001290236] Chr3:78668243 [GRCh38]
Chr3:78717393 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.3800C>A (p.Pro1267Gln) single nucleotide variant Intellectual disability [RCV001290246] Chr3:78627396 [GRCh38]
Chr3:78676546 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn) single nucleotide variant Neurodevelopmental delay [RCV001290237]|not provided [RCV001520797] Chr3:78661146 [GRCh38]
Chr3:78710296 [GRCh37]
Chr3:3p12.3
benign|uncertain significance
NM_002941.4(ROBO1):c.3125A>T (p.Asp1042Val) single nucleotide variant Intellectual disability [RCV001290243] Chr3:78636021 [GRCh38]
Chr3:78685171 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1420C>T (p.Leu474Phe) single nucleotide variant Heart, malformation of [RCV001290245] Chr3:78670224 [GRCh38]
Chr3:78719374 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1198C>T (p.Gln400Ter) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001290308] Chr3:78685890 [GRCh38]
Chr3:78735040 [GRCh37]
Chr3:3p12.3
likely pathogenic
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1 copy number loss Tetralogy of Fallot [RCV001421038] Chr3:78653578..79071345 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) single nucleotide variant Tetralogy of Fallot [RCV001290235]|not provided [RCV001760327] Chr3:78714514 [GRCh38]
Chr3:78763664 [GRCh37]
Chr3:3p12.3
likely pathogenic|uncertain significance
NM_002941.4(ROBO1):c.2914G>A (p.Ala972Thr) single nucleotide variant Neurodevelopmental delay [RCV001290238] Chr3:78639867 [GRCh38]
Chr3:78689017 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4156G>T (p.Gly1386Ter) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001391191] Chr3:78617761 [GRCh38]
Chr3:78666911 [GRCh37]
Chr3:3p12.3
pathogenic
NM_002941.4(ROBO1):c.850G>T (p.Glu284Ter) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001391192] Chr3:78717342 [GRCh38]
Chr3:78766492 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.687C>G (p.Tyr229Ter) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001391193] Chr3:78717854 [GRCh38]
Chr3:78767004 [GRCh37]
Chr3:3p12.3
pathogenic
NM_002941.4(ROBO1):c.2758C>T (p.Arg920Ter) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001391194] Chr3:78651786 [GRCh38]
Chr3:78700936 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.4282+20A>G single nucleotide variant not provided [RCV001643508] Chr3:78617615 [GRCh38]
Chr3:78666765 [GRCh37]
Chr3:3p12.3
benign
NC_000003.11:g.78945148_79288919del deletion Pituitary stalk interruption syndrome [RCV001391226] Chr3:78945148..79288919 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.2665C>G (p.Gln889Glu) single nucleotide variant not provided [RCV001529327] Chr3:78651879 [GRCh38]
Chr3:78701029 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.2630_2631del (p.Pro877fs) deletion Congenital anomaly of kidney and urinary tract [RCV001779960] Chr3:78651913..78651914 [GRCh38]
Chr3:78701063..78701064 [GRCh37]
Chr3:3p12.3
pathogenic
NM_002941.4(ROBO1):c.2512G>A (p.Val838Ile) single nucleotide variant not provided [RCV001774848] Chr3:78657200 [GRCh38]
Chr3:78706350 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1538G>A (p.Arg513Gln) single nucleotide variant not provided [RCV001774856] Chr3:78670106 [GRCh38]
Chr3:78719256 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.2708T>C (p.Ile903Thr) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001779961] Chr3:78651836 [GRCh38]
Chr3:78700986 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4015_4018del (p.Ala1339fs) deletion Congenital anomaly of kidney and urinary tract [RCV001779959] Chr3:78617899..78617902 [GRCh38]
Chr3:78667049..78667052 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.1400C>T (p.Ala467Val) single nucleotide variant Imperforate anus [RCV001823028] Chr3:78670244 [GRCh38]
Chr3:78719394 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del) microsatellite not provided [RCV001988072] Chr3:78634015..78634017 [GRCh38]
Chr3:78683165..78683167 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.2557G>A (p.Ala853Thr) single nucleotide variant not provided [RCV001892683] Chr3:78657155 [GRCh38]
Chr3:78706305 [GRCh37]
Chr3:3p12.3
uncertain significance
GRCh37/hg19 3p12.3-12.2(chr3:79302526-80288252) copy number gain not specified [RCV002053359] Chr3:79302526..80288252 [GRCh37]
Chr3:3p12.3-12.2
uncertain significance
NM_002941.4(ROBO1):c.902A>G (p.Glu301Gly) single nucleotide variant not provided [RCV002044583] Chr3:78717290 [GRCh38]
Chr3:78766440 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1699C>T (p.Pro567Ser) single nucleotide variant not provided [RCV002040768] Chr3:78668234 [GRCh38]
Chr3:78717384 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.301T>A (p.Trp101Arg) single nucleotide variant not provided [RCV001985646] Chr3:78938799 [GRCh38]
Chr3:78987949 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4930GAA[3] (p.Glu1645dup) microsatellite not provided [RCV001895550] Chr3:78600118..78600119 [GRCh38]
Chr3:78649268..78649269 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1265A>G (p.Asp422Gly) single nucleotide variant Short stature [RCV001844435] Chr3:78685823 [GRCh38]
Chr3:78734973 [GRCh37]
Chr3:3p12.3
pathogenic
NC_000003.11:g.(?_79638954)_(79639061_?)dup duplication not provided [RCV001996137] Chr3:79638954..79639061 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4181A>C (p.Asp1394Ala) single nucleotide variant not provided [RCV002009982] Chr3:78617736 [GRCh38]
Chr3:78666886 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4835C>T (p.Ser1612Leu) single nucleotide variant not provided [RCV001990661] Chr3:78600219 [GRCh38]
Chr3:78649369 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.3343A>C (p.Asn1115His) single nucleotide variant not provided [RCV001867020] Chr3:78635803 [GRCh38]
Chr3:78684953 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1967-8T>A single nucleotide variant not provided [RCV001926226] Chr3:78662122 [GRCh38]
Chr3:78711272 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.1967-19T>C single nucleotide variant not provided [RCV002092862] Chr3:78662133 [GRCh38]
Chr3:78711283 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1343-14G>A single nucleotide variant not provided [RCV002087398] Chr3:78670315 [GRCh38]
Chr3:78719465 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1776A>G (p.Thr592=) single nucleotide variant not provided [RCV002124787] Chr3:78668157 [GRCh38]
Chr3:78717307 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.917+7A>C single nucleotide variant not provided [RCV002111157] Chr3:78717268 [GRCh38]
Chr3:78766418 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1342+19del deletion not provided [RCV002104834] Chr3:78685727 [GRCh38]
Chr3:78734877 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.1140A>G (p.Pro380=) single nucleotide variant not provided [RCV002169336] Chr3:78688678 [GRCh38]
Chr3:78737828 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4941+11T>A single nucleotide variant not provided [RCV002169940] Chr3:78600102 [GRCh38]
Chr3:78649252 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2883-7dup duplication not provided [RCV002165532] Chr3:78639904..78639905 [GRCh38]
Chr3:78689054..78689055 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.4668G>A (p.Gln1556=) single nucleotide variant not provided [RCV002209743] Chr3:78606809 [GRCh38]
Chr3:78655959 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.414T>C (p.Ser138=) single nucleotide variant not provided [RCV002213765] Chr3:78938686 [GRCh38]
Chr3:78987836 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2973C>T (p.Ser991=) single nucleotide variant not provided [RCV002116184] Chr3:78639808 [GRCh38]
Chr3:78688958 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.4311C>G (p.Cys1437Trp) single nucleotide variant not provided [RCV002085144] Chr3:78614772 [GRCh38]
Chr3:78663922 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1828G>A (p.Val610Ile) single nucleotide variant not provided [RCV002174883] Chr3:78668021 [GRCh38]
Chr3:78717171 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2913C>T (p.Ala971=) single nucleotide variant not provided [RCV002085509] Chr3:78639868 [GRCh38]
Chr3:78689018 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3272G>A (p.Ser1091Asn) single nucleotide variant not provided [RCV002115700] Chr3:78635874 [GRCh38]
Chr3:78685024 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3811C>T (p.Leu1271Phe) single nucleotide variant not provided [RCV002089811] Chr3:78627385 [GRCh38]
Chr3:78676535 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.1206C>T (p.Ser402=) single nucleotide variant not provided [RCV002214747] Chr3:78685882 [GRCh38]
Chr3:78735032 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.1740G>A (p.Ser580=) single nucleotide variant not provided [RCV002132150] Chr3:78668193 [GRCh38]
Chr3:78717343 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2839+12C>T single nucleotide variant not provided [RCV002092544] Chr3:78647617 [GRCh38]
Chr3:78696767 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.3875+4T>C single nucleotide variant not provided [RCV002165068] Chr3:78627317 [GRCh38]
Chr3:78676467 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.4435+19A>T single nucleotide variant not provided [RCV002133917] Chr3:78614629 [GRCh38]
Chr3:78663779 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2320+17G>A single nucleotide variant not provided [RCV002204935] Chr3:78661013 [GRCh38]
Chr3:78710163 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4704A>C (p.Ala1568=) single nucleotide variant not provided [RCV002097077] Chr3:78606773 [GRCh38]
Chr3:78655923 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2793C>A (p.Thr931=) single nucleotide variant not provided [RCV002117955] Chr3:78651751 [GRCh38]
Chr3:78700901 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2840-12G>A single nucleotide variant not provided [RCV002141383] Chr3:78646202 [GRCh38]
Chr3:78695352 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.499+15C>T single nucleotide variant not provided [RCV002100927] Chr3:78938586 [GRCh38]
Chr3:78987736 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.4942-13G>A single nucleotide variant not provided [RCV002140346] Chr3:78598940 [GRCh38]
Chr3:78648090 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4610G>A (p.Gly1537Glu) single nucleotide variant not provided [RCV002178652] Chr3:78606867 [GRCh38]
Chr3:78656017 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.1354C>A (p.Arg452=) single nucleotide variant not provided [RCV002162351] Chr3:78670290 [GRCh38]
Chr3:78719440 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.2840-2A>G single nucleotide variant not provided [RCV002255756] Chr3:78646192 [GRCh38]
Chr3:78695342 [GRCh37]
Chr3:3p12.3
likely pathogenic
NM_002941.4(ROBO1):c.2088+18T>C single nucleotide variant not provided [RCV002218014] Chr3:78661975 [GRCh38]
Chr3:78711125 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.499+47311C>T single nucleotide variant not provided [RCV002098939] Chr3:78891290 [GRCh38]
Chr3:78940440 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.2421T>C (p.Asn807=) single nucleotide variant not provided [RCV002161996] Chr3:78659707 [GRCh38]
Chr3:78708857 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.54C>T (p.Ser18=) single nucleotide variant not provided [RCV002219999] Chr3:79589858 [GRCh38]
Chr3:79639008 [GRCh37]
Chr3:3p12.3
likely benign
NM_002941.4(ROBO1):c.4283-6C>T single nucleotide variant not provided [RCV002143284] Chr3:78614806 [GRCh38]
Chr3:78663956 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3373+15A>G single nucleotide variant not provided [RCV002200018] Chr3:78635758 [GRCh38]
Chr3:78684908 [GRCh37]
Chr3:3p12.3
benign
GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3 copy number gain not provided [RCV002221455] Chr3:72488757..99614758 [GRCh37]
Chr3:3p13-q12.1
likely pathogenic
NM_002941.4(ROBO1):c.3411A>G (p.Pro1137=) single nucleotide variant not provided [RCV002176602] Chr3:78634005 [GRCh38]
Chr3:78683155 [GRCh37]
Chr3:3p12.3
benign
NM_002941.4(ROBO1):c.3682G>T (p.Asp1228Tyr) single nucleotide variant not provided [RCV002267472] Chr3:78627514 [GRCh38]
Chr3:78676664 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4748A>C (p.Asp1583Ala) single nucleotide variant not provided [RCV002267438] Chr3:78600306 [GRCh38]
Chr3:78649456 [GRCh37]
Chr3:3p12.3
uncertain significance
NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu) single nucleotide variant Congenital nystagmus [RCV002279766] Chr3:78606912 [GRCh38]
Chr3:78656062 [GRCh37]
Chr3:3p12.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10249 AgrOrtholog
COSMIC ROBO1 COSMIC
Ensembl Genes ENSG00000169855 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000406043 ENTREZGENE
  ENSP00000406043.3 UniProtKB/TrEMBL
  ENSP00000417992 ENTREZGENE
  ENSP00000417992.1 UniProtKB/Swiss-Prot
  ENSP00000418553.1 UniProtKB/TrEMBL
  ENSP00000418946.1 UniProtKB/TrEMBL
  ENSP00000419915.1 UniProtKB/TrEMBL
  ENSP00000420321 ENTREZGENE
  ENSP00000420321.1 UniProtKB/Swiss-Prot
  ENSP00000420637 ENTREZGENE
  ENSP00000420637.1 UniProtKB/Swiss-Prot
  ENSP00000482448.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000436010 ENTREZGENE
  ENST00000436010.6 UniProtKB/TrEMBL
  ENST00000464233 ENTREZGENE
  ENST00000464233.6 UniProtKB/Swiss-Prot
  ENST00000467549 ENTREZGENE
  ENST00000467549.5 UniProtKB/Swiss-Prot
  ENST00000472273.1 UniProtKB/TrEMBL
  ENST00000492990.1 UniProtKB/TrEMBL
  ENST00000495273 ENTREZGENE
  ENST00000495273.5 UniProtKB/Swiss-Prot
  ENST00000495961.1 UniProtKB/TrEMBL
  ENST00000618846.4 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169855 GTEx
HGNC ID HGNC:10249 ENTREZGENE
Human Proteome Map ROBO1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Robo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6091 UniProtKB/Swiss-Prot
NCBI Gene 6091 ENTREZGENE
OMIM 602430 OMIM
PANTHER PTHR12231:SF243 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34620 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZ85_HUMAN UniProtKB/TrEMBL
  A0A0A0MSX4_HUMAN UniProtKB/TrEMBL
  F8WEV8_HUMAN UniProtKB/TrEMBL
  H7C4Y7_HUMAN UniProtKB/TrEMBL
  H7C545_HUMAN UniProtKB/TrEMBL
  Q1RMC8 ENTREZGENE, UniProtKB/TrEMBL
  Q2M1J3_HUMAN UniProtKB/TrEMBL
  Q9BUS7 ENTREZGENE
  Q9Y6N7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RXI1 UniProtKB/Swiss-Prot
  D3DU36 UniProtKB/Swiss-Prot
  E9PD49 UniProtKB/Swiss-Prot
  Q1RMC7 UniProtKB/Swiss-Prot
  Q7Z300 UniProtKB/Swiss-Prot
  Q9BUS7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-30 ROBO1  roundabout guidance receptor 1  ROBO1  roundabout, axon guidance receptor, homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED