RAB18 (RAB18, member RAS oncogene family) - Rat Genome Database
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Gene: RAB18 (RAB18, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB18
Name: RAB18, member RAS oncogene family
RGD ID: 1318941
HGNC Page HGNC
Description: Exhibits GDP binding activity. Involved in endoplasmic reticulum tubular network organization and lipid droplet organization. Localizes to endoplasmic reticulum tubular network and lipid droplet. Implicated in Warburg micro syndrome 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: RAB18 small GTPase; RAB18LI1; ras-related protein Rab-18; WARBM3
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
GRCh38.p13 Ensembl1027,504,174 - 27,542,237 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1027,504,174 - 27,542,239 (+)EnsemblGRCh38hg38GRCh38
GRCh381027,504,304 - 27,542,239 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371027,793,103 - 27,831,166 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361027,833,255 - 27,869,105 (+)NCBINCBI36hg18NCBI36
Build 341027,833,254 - 27,869,103NCBI
Celera1027,556,861 - 27,592,716 (+)NCBI
Cytogenetic Map10p12.1NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBIHuRef
CHM1_11027,792,934 - 27,831,114 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
GDP binding  (IDA)
GTP binding  (IEA)
GTPase activity  (IBA,IEA,NAS)
protein binding  (IPI)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal localization of kidney  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Ankle clonus  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blepharophimosis  (IAGP)
Brachycephaly  (IAGP)
Cataract  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clitoral hypoplasia  (IAGP)
Cryptorchidism  (IAGP)
Decreased muscle mass  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Developmental cataract  (IAGP)
Downturned corners of mouth  (IAGP)
Flexion contracture  (IAGP)
Generalized hirsutism  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic labia minora  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Low anterior hairline  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Muscular hypotonia  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Narrow palate  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Pachygyria  (IAGP)
Peripheral neuropathy  (IAGP)
Polymicrogyria  (IAGP)
Postnatal growth retardation  (IAGP)
Postnatal microcephaly  (IAGP)
Retinal coloboma  (IAGP)
Scoliosis  (IAGP)
Scrotal hypoplasia  (IAGP)
Seizure  (IAGP)
Shallow anterior chamber  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Ventriculomegaly  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:7566098   PMID:7706395   PMID:8125298   PMID:8889549   PMID:10648831   PMID:10931946   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12535645   PMID:12800201  
PMID:14702039   PMID:15146197   PMID:15164054   PMID:15342556   PMID:15489334   PMID:15489336   PMID:15914536   PMID:16147880   PMID:16169070   PMID:16207721   PMID:16381901   PMID:16808905  
PMID:17540176   PMID:18349058   PMID:18664496   PMID:20351267   PMID:20937701   PMID:21473985   PMID:21873635   PMID:22810586   PMID:23176487   PMID:23376485   PMID:23420520   PMID:23471881  
PMID:23798571   PMID:23935497   PMID:24239381   PMID:24477653   PMID:24696471   PMID:24797263   PMID:24891604   PMID:24996981   PMID:24997429   PMID:25416956   PMID:26063829   PMID:26186194  
PMID:26472760   PMID:26618866   PMID:26638075   PMID:26949251   PMID:27025967   PMID:27451075   PMID:27684187   PMID:28003315   PMID:28065597   PMID:28342870   PMID:28499918   PMID:28514442  
PMID:28515276   PMID:28604741   PMID:28656962   PMID:28775156   PMID:29180619   PMID:29300443   PMID:29509190   PMID:29564676   PMID:29949452   PMID:30575818   PMID:30830238   PMID:30833792  
PMID:30970241   PMID:31091453   PMID:31106707   PMID:31293035   PMID:31527615   PMID:31563421   PMID:31610914   PMID:31980649   PMID:32296183   PMID:32353859   PMID:32694731   PMID:33060197  
PMID:33144569  


Genomics

Comparative Map Data
RAB18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1027,504,174 - 27,542,237 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1027,504,174 - 27,542,239 (+)EnsemblGRCh38hg38GRCh38
GRCh381027,504,304 - 27,542,239 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371027,793,103 - 27,831,166 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361027,833,255 - 27,869,105 (+)NCBINCBI36hg18NCBI36
Build 341027,833,254 - 27,869,103NCBI
Celera1027,556,861 - 27,592,716 (+)NCBI
Cytogenetic Map10p12.1NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBIHuRef
CHM1_11027,792,934 - 27,831,114 (+)NCBICHM1_1
Rab18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39186,765,167 - 6,791,606 (+)NCBIGRCm39mm39
GRCm38186,765,167 - 6,791,606 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl186,733,905 - 6,794,429 (+)EnsemblGRCm38mm10GRCm38
MGSCv37186,765,203 - 6,790,229 (+)NCBIGRCm37mm9NCBIm37
MGSCv36186,765,203 - 6,790,229 (+)NCBImm8
Celera186,810,932 - 6,835,956 (+)NCBICelera
Cytogenetic Map18A1NCBI
cM Map184.53NCBI
Rab18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01759,844,781 - 59,876,170 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1759,844,781 - 59,876,164 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01761,632,659 - 61,664,794 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41763,497,924 - 63,529,233 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11763,508,756 - 63,540,065 (+)NCBI
Celera1756,284,171 - 56,315,512 (+)NCBICelera
Cytogenetic Map17q12.1NCBI
Rab18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554621,380,156 - 1,411,804 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554621,380,158 - 1,411,804 (+)NCBIChiLan1.0ChiLan1.0
RAB18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11028,001,249 - 28,037,527 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1028,001,249 - 28,037,527 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01027,639,726 - 27,676,555 (+)NCBIMhudiblu_PPA_v0panPan3
RAB18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl26,073,534 - 6,111,928 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.126,071,944 - 6,112,064 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rab18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366131,875,366 - 1,909,080 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1038,970,556 - 39,004,971 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11038,970,381 - 39,004,975 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21053,835,490 - 53,867,558 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB18
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1927,048,653 - 27,085,034 (+)NCBI
ChlSab1.1 Ensembl927,048,647 - 27,082,924 (+)Ensembl
Rab18
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248055,918,956 - 5,956,206 (+)NCBI

Position Markers
SHGC-36745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,827,962 - 27,828,063UniSTSGRCh37
Build 361027,867,968 - 27,868,069RGDNCBI36
Celera1027,591,579 - 27,591,680RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,544,495 - 27,544,596UniSTS
Stanford-G3 RH Map101380.0UniSTS
NCBI RH Map10450.5UniSTS
GeneMap99-G3 RH Map101380.0UniSTS
RH47179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,828,236 - 27,828,360UniSTSGRCh37
Build 361027,868,242 - 27,868,366RGDNCBI36
Celera1027,591,853 - 27,591,977RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,544,769 - 27,544,893UniSTS
GeneMap99-GB4 RH Map10171.17UniSTS
NCBI RH Map10456.5UniSTS
STS-W45315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,828,908 - 27,829,066UniSTSGRCh37
Build 361027,868,914 - 27,869,072RGDNCBI36
Celera1027,592,525 - 27,592,683RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,545,441 - 27,545,599UniSTS
GeneMap99-GB4 RH Map10171.27UniSTS
RH92596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,802,911 - 27,803,034UniSTSGRCh37
Build 361027,842,917 - 27,843,040RGDNCBI36
Celera1027,566,529 - 27,566,652RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,519,446 - 27,519,569UniSTS
GeneMap99-GB4 RH Map10171.45UniSTS
STS-N52153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,828,621 - 27,828,756UniSTSGRCh37
Build 361027,868,627 - 27,868,762RGDNCBI36
Celera1027,592,238 - 27,592,373RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,545,154 - 27,545,289UniSTS
GeneMap99-GB4 RH Map10171.48UniSTS
SHGC-32671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,828,189 - 27,828,302UniSTSGRCh37
Build 361027,868,195 - 27,868,308RGDNCBI36
Celera1027,591,806 - 27,591,919RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,544,722 - 27,544,835UniSTS
TNG Radiation Hybrid Map1014463.0UniSTS
Stanford-G3 RH Map101383.0UniSTS
GeneMap99-GB4 RH Map10171.76UniSTS
Whitehead-RH Map10200.7UniSTS
NCBI RH Map10451.3UniSTS
GeneMap99-G3 RH Map101383.0UniSTS
STS-H21670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,820,791 - 27,821,020UniSTSGRCh37
Build 361027,860,797 - 27,861,026RGDNCBI36
Celera1027,584,412 - 27,584,641RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,537,325 - 27,537,554UniSTS
GeneMap99-GB4 RH Map10187.35UniSTS
RH46011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,830,923 - 27,831,074UniSTSGRCh37
Build 361027,870,929 - 27,871,080RGDNCBI36
Celera1027,594,540 - 27,594,691RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,547,456 - 27,547,607UniSTS
GeneMap99-GB4 RH Map10170.75UniSTS
RAB18_3279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,827,353 - 27,828,217UniSTSGRCh37
Build 361027,867,359 - 27,868,223RGDNCBI36
Celera1027,590,970 - 27,591,834RGD
HuRef1027,543,886 - 27,544,750UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2099
Count of miRNA genes:940
Interacting mature miRNAs:1097
Transcripts:ENST00000356940, ENST00000375802, ENST00000423465, ENST00000465772, ENST00000484281, ENST00000490236, ENST00000535776
Prediction methods:Microtar, Miranda, Rnahybrid
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.


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 2405 2350 1667 569 1520 411 4304 1984 3539 382 1452 1609 174 1 1201 2738 6 2
Low 34 641 59 55 431 54 53 213 195 37 8 4 1 3 50
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF136974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF137372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF532968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY574034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP210053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN357871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N56901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356940   ⟹   ENSP00000349415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,304 - 27,542,239 (+)Ensembl
RefSeq Acc Id: ENST00000375802   ⟹   ENSP00000364960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,328 - 27,538,140 (+)Ensembl
RefSeq Acc Id: ENST00000423465   ⟹   ENSP00000407872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,619 - 27,537,966 (+)Ensembl
RefSeq Acc Id: ENST00000465772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,377 - 27,538,489 (+)Ensembl
RefSeq Acc Id: ENST00000484281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,394 - 27,514,217 (+)Ensembl
RefSeq Acc Id: ENST00000490236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,299 - 27,510,490 (+)Ensembl
RefSeq Acc Id: ENST00000535776   ⟹   ENSP00000439321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,174 - 27,542,237 (+)Ensembl
RefSeq Acc Id: ENST00000611151   ⟹   ENSP00000483927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,174 - 27,542,237 (+)Ensembl
RefSeq Acc Id: ENST00000621805   ⟹   ENSP00000478479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1027,504,370 - 27,542,237 (+)Ensembl
RefSeq Acc Id: NM_001256410   ⟹   NP_001243339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,542,239 (+)NCBI
GRCh371027,793,103 - 27,831,166 (+)NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBI
CHM1_11027,792,934 - 27,831,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256411   ⟹   NP_001243340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,542,239 (+)NCBI
GRCh371027,793,103 - 27,831,166 (+)NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBI
CHM1_11027,792,934 - 27,831,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256412   ⟹   NP_001243341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,542,239 (+)NCBI
GRCh371027,793,103 - 27,831,166 (+)NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBI
CHM1_11027,792,934 - 27,831,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256415   ⟹   NP_001243344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,542,239 (+)NCBI
GRCh371027,793,103 - 27,831,166 (+)NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBI
CHM1_11027,792,934 - 27,831,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021252   ⟹   NP_067075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,542,239 (+)NCBI
GRCh371027,793,103 - 27,831,166 (+)NCBI
Build 361027,833,255 - 27,869,105 (+)NCBI Archive
HuRef1027,509,631 - 27,547,699 (+)NCBI
CHM1_11027,792,934 - 27,831,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046172
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,542,239 (+)NCBI
GRCh371027,793,103 - 27,831,166 (+)NCBI
HuRef1027,509,631 - 27,547,699 (+)NCBI
CHM1_11027,792,934 - 27,831,114 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_067075   ⟸   NM_021252
- Peptide Label: isoform 1
- UniProtKB: Q9NP72 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243339   ⟸   NM_001256410
- Peptide Label: isoform 2
- UniProtKB: Q9NP72 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243340   ⟸   NM_001256411
- Peptide Label: isoform 3
- UniProtKB: Q9NP72 (UniProtKB/Swiss-Prot),   B7Z4P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243341   ⟸   NM_001256412
- Peptide Label: isoform 5
- UniProtKB: Q9NP72 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243344   ⟸   NM_001256415
- Peptide Label: isoform 4
- UniProtKB: Q9NP72 (UniProtKB/Swiss-Prot),   A0A087X163 (UniProtKB/TrEMBL),   B7Z5V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000407872   ⟸   ENST00000423465
RefSeq Acc Id: ENSP00000478479   ⟸   ENST00000621805
RefSeq Acc Id: ENSP00000364960   ⟸   ENST00000375802
RefSeq Acc Id: ENSP00000483927   ⟸   ENST00000611151
RefSeq Acc Id: ENSP00000439321   ⟸   ENST00000535776
RefSeq Acc Id: ENSP00000349415   ⟸   ENST00000356940

Promoters
RGD ID:7217257
Promoter ID:EPDNEW_H14374
Type:initiation region
Name:RAB18_1
Description:RAB18, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,504,304 - 27,504,364EPDNEW
RGD ID:6788039
Promoter ID:HG_KWN:8958
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375802,   ENST00000396255,   OTTHUMT00000047326,   OTTHUMT00000047327,   OTTHUMT00000047329,   OTTHUMT00000047330,   OTTHUMT00000047331,   UC001ITW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361027,832,914 - 27,833,414 (+)MPROMDB
RGD ID:6850742
Promoter ID:EP73165
Type:initiation region
Name:HS_RAB18
Description:RAB18, member RAS oncogene family.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361027,833,239 - 27,833,299EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) single nucleotide variant Warburg micro syndrome 3 [RCV000023171] Chr10:27509877 [GRCh38]
Chr10:27798806 [GRCh37]
Chr10:10p12.1
pathogenic
RAB18, EX2DEL deletion Warburg micro syndrome 3 [RCV000023172] Chr10:10p12.1 pathogenic
NM_021252.5(RAB18):c.274_276AGA[1] (p.Arg93del) microsatellite Warburg micro syndrome 3 [RCV000023173] Chr10:27533748..27533750 [GRCh38]
Chr10:27822677..27822679 [GRCh37]
Chr10:10p12.1
pathogenic
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) single nucleotide variant Warburg micro syndrome 3 [RCV000023174] Chr10:27538049 [GRCh38]
Chr10:27826978 [GRCh37]
Chr10:10p12.1
pathogenic
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) single nucleotide variant Warburg micro syndrome 3 [RCV000087132] Chr10:27533759 [GRCh38]
Chr10:27822688 [GRCh37]
Chr10:10p12.1
pathogenic
GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1 copy number loss See cases [RCV000052503] Chr10:27046685..30228891 [GRCh38]
Chr10:27335614..30517820 [GRCh37]
Chr10:27375620..30557826 [NCBI36]
Chr10:10p12.1-11.23
pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
NM_021252.5(RAB18):c.264T>C (p.Tyr88=) single nucleotide variant not provided [RCV000951581]|not specified [RCV000118085] Chr10:27533739 [GRCh38]
Chr10:27822668 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) single nucleotide variant Warburg micro syndrome 3 [RCV000385619]|not provided [RCV000878180]|not specified [RCV000118086] Chr10:27538022 [GRCh38]
Chr10:27826951 [GRCh37]
Chr10:10p12.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 copy number gain See cases [RCV000139427] Chr10:19088161..32732293 [GRCh38]
Chr10:19377090..33021221 [GRCh37]
Chr10:19417096..33061227 [NCBI36]
Chr10:10p12.31-11.22
likely pathogenic
GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1 copy number loss See cases [RCV000139515] Chr10:26823016..30248926 [GRCh38]
Chr10:27111945..30537855 [GRCh37]
Chr10:27151951..30577861 [NCBI36]
Chr10:10p12.1-11.23
pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
NM_021252.5(RAB18):c.406G>A (p.Gly136Ser) single nucleotide variant not specified [RCV000192819] Chr10:27533955 [GRCh38]
Chr10:27822884 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3559C>T single nucleotide variant Warburg micro syndrome 3 [RCV000302258] Chr10:27541610 [GRCh38]
Chr10:27830539 [GRCh37]
Chr10:10p12.1
likely benign|uncertain significance
NM_021252.5(RAB18):c.*2744C>T single nucleotide variant Warburg micro syndrome 3 [RCV000321276] Chr10:27540795 [GRCh38]
Chr10:27829724 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*1141T>C single nucleotide variant Warburg micro syndrome 3 [RCV000321677] Chr10:27539192 [GRCh38]
Chr10:27828121 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_001256410.1(RAB18):c.-144T>A single nucleotide variant Warburg micro syndrome 3 [RCV000344494] Chr10:27504226 [GRCh38]
Chr10:27793155 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*757G>T single nucleotide variant Warburg micro syndrome 3 [RCV000368286] Chr10:27538808 [GRCh38]
Chr10:27827737 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.298G>C (p.Asp100His) single nucleotide variant Warburg micro syndrome 3 [RCV000370517] Chr10:27533773 [GRCh38]
Chr10:27822702 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2420C>A single nucleotide variant Warburg micro syndrome 3 [RCV000269821] Chr10:27540471 [GRCh38]
Chr10:27829400 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*956A>C single nucleotide variant Warburg micro syndrome 3 [RCV000269855] Chr10:27539007 [GRCh38]
Chr10:27827936 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*992C>A single nucleotide variant Warburg micro syndrome 3 [RCV000324967] Chr10:27539043 [GRCh38]
Chr10:27827972 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1943G>A single nucleotide variant Warburg micro syndrome 3 [RCV000348858] Chr10:27539994 [GRCh38]
Chr10:27828923 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1542T>C single nucleotide variant Warburg micro syndrome 3 [RCV000373540] Chr10:27539593 [GRCh38]
Chr10:27828522 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*150C>T single nucleotide variant Warburg micro syndrome [RCV000288146] Chr10:27538201 [GRCh38]
Chr10:27827130 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2449A>G single nucleotide variant Warburg micro syndrome 3 [RCV000305965] Chr10:27540500 [GRCh38]
Chr10:27829429 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*3129C>T single nucleotide variant Warburg micro syndrome 3 [RCV000349564] Chr10:27541180 [GRCh38]
Chr10:27830109 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*3453G>A single nucleotide variant Warburg micro syndrome 3 [RCV000289355] Chr10:27541504 [GRCh38]
Chr10:27830433 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*1412C>T single nucleotide variant Warburg micro syndrome 3 [RCV000376290] Chr10:27539463 [GRCh38]
Chr10:27828392 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*3939A>T single nucleotide variant Warburg micro syndrome 3 [RCV000273879] Chr10:27541990 [GRCh38]
Chr10:27830919 [GRCh37]
Chr10:10p12.1
benign|uncertain significance
NM_021252.5(RAB18):c.*758A>T single nucleotide variant Warburg micro syndrome 3 [RCV000273807] Chr10:27538809 [GRCh38]
Chr10:27827738 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_001256410.1(RAB18):c.-182G>A single nucleotide variant Warburg micro syndrome 3 [RCV000289691] Chr10:27504188 [GRCh38]
Chr10:27793117 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3293del deletion Warburg micro syndrome [RCV000400409] Chr10:27541344 [GRCh38]
Chr10:27830273 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3167G>A single nucleotide variant Warburg micro syndrome 3 [RCV000291220] Chr10:27541218 [GRCh38]
Chr10:27830147 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2242A>G single nucleotide variant Warburg micro syndrome 3 [RCV000309602] Chr10:27540293 [GRCh38]
Chr10:27829222 [GRCh37]
Chr10:10p12.1
likely benign|uncertain significance
NM_021252.5(RAB18):c.*764A>G single nucleotide variant Warburg micro syndrome 3 [RCV000309858] Chr10:27538815 [GRCh38]
Chr10:27827744 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1089C>A single nucleotide variant Warburg micro syndrome 3 [RCV000379748] Chr10:27539140 [GRCh38]
Chr10:27828069 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*278A>T single nucleotide variant Warburg micro syndrome 3 [RCV000402247] Chr10:27538329 [GRCh38]
Chr10:27827258 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.-20C>T single nucleotide variant Warburg micro syndrome 3 [RCV000402779]|not specified [RCV000444527] Chr10:27504350 [GRCh38]
Chr10:27793279 [GRCh37]
Chr10:10p12.1
benign|likely benign|uncertain significance
NM_021252.5(RAB18):c.*3803_*3804insT insertion Warburg micro syndrome [RCV000332486] Chr10:27541854..27541855 [GRCh38]
Chr10:27830783..27830784 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*99C>T single nucleotide variant Warburg micro syndrome 3 [RCV000382249] Chr10:27538150 [GRCh38]
Chr10:27827079 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2862T>C single nucleotide variant Warburg micro syndrome 3 [RCV000260500] Chr10:27540913 [GRCh38]
Chr10:27829842 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) single nucleotide variant Warburg micro syndrome 3 [RCV000275979] Chr10:27533943 [GRCh38]
Chr10:27822872 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3729G>C single nucleotide variant Warburg micro syndrome 3 [RCV000260917] Chr10:27541780 [GRCh38]
Chr10:27830709 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1895G>C single nucleotide variant Warburg micro syndrome 3 [RCV000312664] Chr10:27539946 [GRCh38]
Chr10:27828875 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*741A>G single nucleotide variant Warburg micro syndrome 3 [RCV000313552] Chr10:27538792 [GRCh38]
Chr10:27827721 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*504A>G single nucleotide variant Warburg micro syndrome 3 [RCV000334793] Chr10:27538555 [GRCh38]
Chr10:27827484 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*3584C>T single nucleotide variant Warburg micro syndrome 3 [RCV000359254] Chr10:27541635 [GRCh38]
Chr10:27830564 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.-41A>G single nucleotide variant Warburg micro syndrome 3 [RCV000359622] Chr10:27504329 [GRCh38]
Chr10:27793258 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1845G>T single nucleotide variant Warburg micro syndrome 3 [RCV000407887] Chr10:27539896 [GRCh38]
Chr10:27828825 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2030G>T single nucleotide variant Warburg micro syndrome [RCV000407897] Chr10:27540081 [GRCh38]
Chr10:27829010 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1502G>C single nucleotide variant Warburg micro syndrome 3 [RCV000337529] Chr10:27539553 [GRCh38]
Chr10:27828482 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2476G>A single nucleotide variant Warburg micro syndrome 3 [RCV000360720] Chr10:27540527 [GRCh38]
Chr10:27829456 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.270C>A (p.Val90=) single nucleotide variant Warburg micro syndrome 3 [RCV000315830] Chr10:27533745 [GRCh38]
Chr10:27822674 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2974C>G single nucleotide variant Warburg micro syndrome 3 [RCV000388859] Chr10:27541025 [GRCh38]
Chr10:27829954 [GRCh37]
Chr10:10p12.1
likely benign|uncertain significance
NM_021252.5(RAB18):c.*402T>C single nucleotide variant Warburg micro syndrome 3 [RCV000298573] Chr10:27538453 [GRCh38]
Chr10:27827382 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2375A>G single nucleotide variant Warburg micro syndrome 3 [RCV000364386] Chr10:27540426 [GRCh38]
Chr10:27829355 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*890G>A single nucleotide variant Warburg micro syndrome 3 [RCV000364502] Chr10:27538941 [GRCh38]
Chr10:27827870 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1488A>C single nucleotide variant Warburg micro syndrome 3 [RCV000282460] Chr10:27539539 [GRCh38]
Chr10:27828468 [GRCh37]
Chr10:10p12.1
benign|uncertain significance
NM_021252.5(RAB18):c.*3476A>G single nucleotide variant Warburg micro syndrome 3 [RCV000341982] Chr10:27541527 [GRCh38]
Chr10:27830456 [GRCh37]
Chr10:10p12.1
benign
NM_001256410.1(RAB18):c.-83C>A single nucleotide variant Warburg micro syndrome 3 [RCV000391458] Chr10:27504287 [GRCh38]
Chr10:27793216 [GRCh37]
Chr10:10p12.1
benign|uncertain significance
NM_021252.5(RAB18):c.*3484T>C single nucleotide variant Warburg micro syndrome 3 [RCV000391506] Chr10:27541535 [GRCh38]
Chr10:27830464 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*387C>A single nucleotide variant Warburg micro syndrome 3 [RCV000391701] Chr10:27538438 [GRCh38]
Chr10:27827367 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*557G>A single nucleotide variant Warburg micro syndrome 3 [RCV000391711] Chr10:27538608 [GRCh38]
Chr10:27827537 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2529G>A single nucleotide variant Warburg micro syndrome 3 [RCV000266231] Chr10:27540580 [GRCh38]
Chr10:27829509 [GRCh37]
Chr10:10p12.1
benign|likely benign
NM_021252.5(RAB18):c.*1136G>A single nucleotide variant Warburg micro syndrome 3 [RCV000266466] Chr10:27539187 [GRCh38]
Chr10:27828116 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.36C>A (p.Leu12=) single nucleotide variant Warburg micro syndrome 3 [RCV000300444] Chr10:27504405 [GRCh38]
Chr10:27793334 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3696T>A single nucleotide variant Warburg micro syndrome 3 [RCV000300859] Chr10:27541747 [GRCh38]
Chr10:27830676 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*254A>G single nucleotide variant Warburg micro syndrome 3 [RCV000343064] Chr10:27538305 [GRCh38]
Chr10:27827234 [GRCh37]
Chr10:10p12.1
likely benign|uncertain significance
NM_021252.5(RAB18):c.260-7dup duplication Warburg micro syndrome [RCV000260435]|not specified [RCV000611985] Chr10:27533727..27533728 [GRCh38]
Chr10:27822656..27822657 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*1680A>T single nucleotide variant Warburg micro syndrome 3 [RCV000278780] Chr10:27539731 [GRCh38]
Chr10:27828660 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*16A>G single nucleotide variant Warburg micro syndrome [RCV000291277] Chr10:27538067 [GRCh38]
Chr10:27826996 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2943A>G single nucleotide variant Warburg micro syndrome 3 [RCV000315613] Chr10:27540994 [GRCh38]
Chr10:27829923 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) single nucleotide variant Warburg micro syndrome 3 [RCV000331024] Chr10:27537884 [GRCh38]
Chr10:27826813 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3193C>T single nucleotide variant Warburg micro syndrome 3 [RCV000346198] Chr10:27541244 [GRCh38]
Chr10:27830173 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*4039A>C single nucleotide variant Warburg micro syndrome 3 [RCV000331263] Chr10:27542090 [GRCh38]
Chr10:27831019 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_001256410.1(RAB18):c.-79T>A single nucleotide variant Warburg micro syndrome 3 [RCV000304873] Chr10:27504291 [GRCh38]
Chr10:27793220 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3046_*3047dup duplication Warburg micro syndrome [RCV000294701] Chr10:27541093..27541094 [GRCh38]
Chr10:27830022..27830023 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3166C>T single nucleotide variant Warburg micro syndrome 3 [RCV000385543] Chr10:27541217 [GRCh38]
Chr10:27830146 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3599dup duplication Warburg micro syndrome [RCV000405033] Chr10:27541648..27541649 [GRCh38]
Chr10:27830577..27830578 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*325C>G single nucleotide variant Warburg micro syndrome 3 [RCV000284537] Chr10:27538376 [GRCh38]
Chr10:27827305 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1696T>A single nucleotide variant Warburg micro syndrome 3 [RCV000352421] Chr10:27539747 [GRCh38]
Chr10:27828676 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3701_*3704GACT[1] microsatellite Warburg micro syndrome [RCV000353334] Chr10:27541751..27541754 [GRCh38]
Chr10:27830680..27830683 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3927A>G single nucleotide variant Warburg micro syndrome 3 [RCV000370548] Chr10:27541978 [GRCh38]
Chr10:27830907 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*382C>T single nucleotide variant Warburg micro syndrome 3 [RCV000338288] Chr10:27538433 [GRCh38]
Chr10:27827362 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.68+10A>G single nucleotide variant Warburg micro syndrome 3 [RCV000355243] Chr10:27504447 [GRCh38]
Chr10:27793376 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2788C>T single nucleotide variant Warburg micro syndrome 3 [RCV000373873] Chr10:27540839 [GRCh38]
Chr10:27829768 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*62C>T single nucleotide variant Warburg micro syndrome 3 [RCV000327616] Chr10:27538113 [GRCh38]
Chr10:27827042 [GRCh37]
Chr10:10p12.1
uncertain significance
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_021252.5(RAB18):c.207G>A (p.Arg69=) single nucleotide variant not specified [RCV000500774] Chr10:27532527 [GRCh38]
Chr10:27821456 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.259+5G>A single nucleotide variant not provided [RCV000493899] Chr10:27532584 [GRCh38]
Chr10:27821513 [GRCh37]
Chr10:10p12.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10p12.1(chr10:27587517-27972218)x3 copy number gain not provided [RCV000683231] Chr10:27587517..27972218 [GRCh37]
Chr10:10p12.1
uncertain significance
GRCh37/hg19 10p12.1(chr10:27612768-27873909)x3 copy number gain not provided [RCV000683217] Chr10:27612768..27873909 [GRCh37]
Chr10:10p12.1
uncertain significance
GRCh37/hg19 10p12.1(chr10:26318337-27889818)x3 copy number gain not provided [RCV000737055] Chr10:26318337..27889818 [GRCh37]
Chr10:10p12.1
likely benign
GRCh37/hg19 10p12.1(chr10:26344939-27889818)x3 copy number gain not provided [RCV000749539] Chr10:26344939..27889818 [GRCh37]
Chr10:10p12.1
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_021252.5(RAB18):c.243A>T (p.Ala81=) single nucleotide variant not provided [RCV000924046] Chr10:27532563 [GRCh38]
Chr10:27821492 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.445+9G>T single nucleotide variant not provided [RCV000924140] Chr10:27534003 [GRCh38]
Chr10:27822932 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.462C>T (p.Thr154=) single nucleotide variant not provided [RCV000964767] Chr10:27537892 [GRCh38]
Chr10:27826821 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.125-92A>G single nucleotide variant not provided [RCV000827527] Chr10:27526736 [GRCh38]
Chr10:27815665 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.96G>T (p.Thr32=) single nucleotide variant not provided [RCV000878670] Chr10:27509902 [GRCh38]
Chr10:27798831 [GRCh37]
Chr10:10p12.1
likely benign
NC_000010.11:g.27503927C>T single nucleotide variant not provided [RCV000839560] Chr10:27503927 [GRCh38]
Chr10:27792856 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.187-76G>A single nucleotide variant not provided [RCV000836444] Chr10:27532431 [GRCh38]
Chr10:27821360 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.187-41A>G single nucleotide variant not provided [RCV000836445] Chr10:27532466 [GRCh38]
Chr10:27821395 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.446-288C>T single nucleotide variant not provided [RCV000844216] Chr10:27537588 [GRCh38]
Chr10:27826517 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.186+78C>G single nucleotide variant not provided [RCV000833251] Chr10:27526967 [GRCh38]
Chr10:27815896 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.69-130T>A single nucleotide variant not provided [RCV000827529] Chr10:27509745 [GRCh38]
Chr10:27798674 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*3906G>A single nucleotide variant Warburg micro syndrome 3 [RCV001106584] Chr10:27541957 [GRCh38]
Chr10:27830886 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3227A>G single nucleotide variant Warburg micro syndrome 3 [RCV001105437] Chr10:27541278 [GRCh38]
Chr10:27830207 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*946G>T single nucleotide variant Warburg micro syndrome 3 [RCV001108595] Chr10:27538997 [GRCh38]
Chr10:27827926 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*4038A>T single nucleotide variant Warburg micro syndrome 3 [RCV001108757] Chr10:27542089 [GRCh38]
Chr10:27831018 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln) single nucleotide variant Warburg micro syndrome 3 [RCV001103333] Chr10:27533971 [GRCh38]
Chr10:27822900 [GRCh37]
Chr10:10p12.1
uncertain significance
NC_000010.11:g.27504220G>A single nucleotide variant Warburg micro syndrome 3 [RCV001106289] Chr10:27504220 [GRCh38]
Chr10:27793149 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*560C>T single nucleotide variant Warburg micro syndrome 3 [RCV001106386] Chr10:27538611 [GRCh38]
Chr10:27827540 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.259+9T>A single nucleotide variant not provided [RCV000896344] Chr10:27532588 [GRCh38]
Chr10:27821517 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.501A>G (p.Glu167=) single nucleotide variant not provided [RCV000885820] Chr10:27537931 [GRCh38]
Chr10:27826860 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.*635G>A single nucleotide variant Warburg micro syndrome 3 [RCV001106387] Chr10:27538686 [GRCh38]
Chr10:27827615 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2085A>C single nucleotide variant Warburg micro syndrome 3 [RCV001106476] Chr10:27540136 [GRCh38]
Chr10:27829065 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1041A>G single nucleotide variant Warburg micro syndrome 3 [RCV001103419] Chr10:27539092 [GRCh38]
Chr10:27828021 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*407G>T single nucleotide variant Warburg micro syndrome 3 [RCV001105252] Chr10:27538458 [GRCh38]
Chr10:27827387 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1779A>T single nucleotide variant Warburg micro syndrome 3 [RCV001105348] Chr10:27539830 [GRCh38]
Chr10:27828759 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1110A>G single nucleotide variant Warburg micro syndrome 3 [RCV001103421] Chr10:27539161 [GRCh38]
Chr10:27828090 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*170T>C single nucleotide variant Warburg micro syndrome 3 [RCV001103336] Chr10:27538221 [GRCh38]
Chr10:27827150 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.*3330G>C single nucleotide variant Warburg micro syndrome 3 [RCV001105438] Chr10:27541381 [GRCh38]
Chr10:27830310 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3521C>T single nucleotide variant Warburg micro syndrome 3 [RCV001105439] Chr10:27541572 [GRCh38]
Chr10:27830501 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*906A>G single nucleotide variant Warburg micro syndrome 3 [RCV001108594] Chr10:27538957 [GRCh38]
Chr10:27827886 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*448G>A single nucleotide variant Warburg micro syndrome 3 [RCV001106385] Chr10:27538499 [GRCh38]
Chr10:27827428 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*3766C>A single nucleotide variant Warburg micro syndrome 3 [RCV001106582] Chr10:27541817 [GRCh38]
Chr10:27830746 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3832C>A single nucleotide variant Warburg micro syndrome 3 [RCV001106583] Chr10:27541883 [GRCh38]
Chr10:27830812 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*150C>A single nucleotide variant Warburg micro syndrome 3 [RCV001103335] Chr10:27538201 [GRCh38]
Chr10:27827130 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1047T>G single nucleotide variant Warburg micro syndrome 3 [RCV001103420] Chr10:27539098 [GRCh38]
Chr10:27828027 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2327T>C single nucleotide variant Warburg micro syndrome 3 [RCV001108671] Chr10:27540378 [GRCh38]
Chr10:27829307 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*4131A>G single nucleotide variant Warburg micro syndrome 3 [RCV001108758] Chr10:27542182 [GRCh38]
Chr10:27831111 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*4185G>A single nucleotide variant Warburg micro syndrome 3 [RCV001108759] Chr10:27542236 [GRCh38]
Chr10:27831165 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.549del (p.Gly184fs) deletion not provided [RCV001169856] Chr10:27537977 [GRCh38]
Chr10:27826906 [GRCh37]
Chr10:10p12.1
likely pathogenic
NM_021252.5(RAB18):c.*8G>A single nucleotide variant Warburg micro syndrome 3 [RCV001103334] Chr10:27538059 [GRCh38]
Chr10:27826988 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1452G>A single nucleotide variant Warburg micro syndrome 3 [RCV001105346] Chr10:27539503 [GRCh38]
Chr10:27828432 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3222C>T single nucleotide variant Warburg micro syndrome 3 [RCV001105436] Chr10:27541273 [GRCh38]
Chr10:27830202 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3543G>A single nucleotide variant Warburg micro syndrome 3 [RCV001105440] Chr10:27541594 [GRCh38]
Chr10:27830523 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1800A>G single nucleotide variant Warburg micro syndrome 3 [RCV001106474] Chr10:27539851 [GRCh38]
Chr10:27828780 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1842A>G single nucleotide variant Warburg micro syndrome 3 [RCV001106475] Chr10:27539893 [GRCh38]
Chr10:27828822 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*2302A>G single nucleotide variant Warburg micro syndrome 3 [RCV001106477] Chr10:27540353 [GRCh38]
Chr10:27829282 [GRCh37]
Chr10:10p12.1
likely benign
NM_021252.5(RAB18):c.*2985T>G single nucleotide variant Warburg micro syndrome 3 [RCV001103514] Chr10:27541036 [GRCh38]
Chr10:27829965 [GRCh37]
Chr10:10p12.1
uncertain significance
GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3 copy number gain not provided [RCV001006302] Chr10:27302866..28355945 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*822T>C single nucleotide variant Warburg micro syndrome 3 [RCV001108593] Chr10:27538873 [GRCh38]
Chr10:27827802 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*3967T>C single nucleotide variant Warburg micro syndrome 3 [RCV001108755] Chr10:27542018 [GRCh38]
Chr10:27830947 [GRCh37]
Chr10:10p12.1
benign
NM_021252.5(RAB18):c.*4008C>T single nucleotide variant Warburg micro syndrome 3 [RCV001108756] Chr10:27542059 [GRCh38]
Chr10:27830988 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*419G>A single nucleotide variant Warburg micro syndrome 3 [RCV001105253] Chr10:27538470 [GRCh38]
Chr10:27827399 [GRCh37]
Chr10:10p12.1
uncertain significance
NM_021252.5(RAB18):c.*1589T>C single nucleotide variant Warburg micro syndrome 3 [RCV001105347] Chr10:27539640 [GRCh38]
Chr10:27828569 [GRCh37]
Chr10:10p12.1
uncertain significance
GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1 copy number loss not provided [RCV001259541] Chr10:27265783..28643506 [GRCh37]
Chr10:10p12.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14244 AgrOrtholog
COSMIC RAB18 COSMIC
Ensembl Genes ENSG00000099246 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349415 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364960 UniProtKB/TrEMBL
  ENSP00000407872 UniProtKB/TrEMBL
  ENSP00000439321 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478479 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483927 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375802 UniProtKB/TrEMBL
  ENST00000423465 UniProtKB/TrEMBL
  ENST00000535776 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611151 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000621805 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000099246 GTEx
HGNC ID HGNC:14244 ENTREZGENE
Human Proteome Map RAB18 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sigma_54_int_dom_ATP-bd_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22931 UniProtKB/Swiss-Prot
NCBI Gene 22931 ENTREZGENE
OMIM 602207 OMIM
  614222 OMIM
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34106 PharmGKB
PROSITE RAB UniProtKB/Swiss-Prot
  SIGMA54_INTERACT_1 UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.406799 ENTREZGENE
UniProt A0A087X163 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4P9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5V3 ENTREZGENE, UniProtKB/TrEMBL
  H0Y6T8_HUMAN UniProtKB/TrEMBL
  Q5W0J0_HUMAN UniProtKB/TrEMBL
  Q9NP72 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KMC7 UniProtKB/Swiss-Prot
  B7Z333 UniProtKB/Swiss-Prot
  D3DRW1 UniProtKB/Swiss-Prot
  Q53FX8 UniProtKB/Swiss-Prot
  Q56UN9 UniProtKB/Swiss-Prot
  Q6FIH1 UniProtKB/Swiss-Prot