RBM27 (RNA binding motif protein 27) - Rat Genome Database

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Gene: RBM27 (RNA binding motif protein 27) Homo sapiens
Analyze
Symbol: RBM27
Name: RNA binding motif protein 27
RGD ID: 1323694
HGNC Page HGNC:29243
Description: Enables RNA binding activity. Predicted to be located in cytoplasm and nuclear speck. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acidic rich RS domain containing 1; ARRS1; KIAA1311; Psc1; RNA-binding motif protein 27; RNA-binding protein 27; ZC3H18; ZC3H20
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385146,203,605 - 146,289,223 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5146,203,605 - 146,289,223 (+)EnsemblGRCh38hg38GRCh38
GRCh375145,583,168 - 145,668,786 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365145,563,306 - 145,649,220 (+)NCBINCBI36Build 36hg18NCBI36
Celera5141,663,078 - 141,748,705 (+)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5140,729,821 - 140,815,498 (+)NCBIHuRef
CHM1_15145,015,942 - 145,101,491 (+)NCBICHM1_1
T2T-CHM13v2.05146,739,205 - 146,824,811 (+)NCBIT2T-CHM13v2.0
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
cytoplasm  (IEA)
nuclear speck  (IEA)
nucleus  (IBA,IEA)

Molecular Function
metal ion binding  (IEA)
RNA binding  (HDA,IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10718198   PMID:12477932   PMID:14702039   PMID:15372022   PMID:15489334   PMID:15741184   PMID:16964243   PMID:18029348   PMID:20379614   PMID:21873635   PMID:22658674   PMID:22681889  
PMID:22939629   PMID:24332808   PMID:25281560   PMID:25452129   PMID:25544563   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26496610   PMID:26687479   PMID:26760575   PMID:26972000  
PMID:27248496   PMID:28186131   PMID:28514442   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29298432   PMID:29395067   PMID:29507755   PMID:29778605   PMID:29802200   PMID:29845934  
PMID:30097533   PMID:30196744   PMID:30209976   PMID:30415952   PMID:30463901   PMID:30585729   PMID:30804502   PMID:30884312   PMID:30975701   PMID:31091453   PMID:31300519   PMID:31527615  
PMID:31551363   PMID:31553912   PMID:31586073   PMID:31950173   PMID:32031713   PMID:32239614   PMID:32344865   PMID:32416067   PMID:32538781   PMID:32707033   PMID:32807901   PMID:32908313  
PMID:32989298   PMID:33397691   PMID:33417871   PMID:33640491   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34244482   PMID:34244565   PMID:34349018  
PMID:34597346   PMID:35140242   PMID:35198878   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35543156   PMID:35545047   PMID:35652658   PMID:35850772   PMID:35915203   PMID:35944360  
PMID:36114006   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36261009   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36912080   PMID:37267103   PMID:37774976   PMID:37827155  
PMID:37875486   PMID:38113892   PMID:38280479   PMID:38334954   PMID:38697112  


Genomics

Comparative Map Data
RBM27
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385146,203,605 - 146,289,223 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5146,203,605 - 146,289,223 (+)EnsemblGRCh38hg38GRCh38
GRCh375145,583,168 - 145,668,786 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365145,563,306 - 145,649,220 (+)NCBINCBI36Build 36hg18NCBI36
Celera5141,663,078 - 141,748,705 (+)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5140,729,821 - 140,815,498 (+)NCBIHuRef
CHM1_15145,015,942 - 145,101,491 (+)NCBICHM1_1
T2T-CHM13v2.05146,739,205 - 146,824,811 (+)NCBIT2T-CHM13v2.0
Rbm27
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391842,408,386 - 42,474,607 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1842,408,418 - 42,474,607 (+)EnsemblGRCm39 Ensembl
GRCm381842,275,205 - 42,341,542 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1842,275,353 - 42,341,542 (+)EnsemblGRCm38mm10GRCm38
MGSCv371842,435,007 - 42,501,196 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361842,401,326 - 42,467,522 (+)NCBIMGSCv36mm8
Celera1843,636,829 - 43,703,015 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1822.45NCBI
Rbm27
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81834,524,523 - 34,587,115 (+)NCBIGRCr8
mRatBN7.21834,273,527 - 34,336,124 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1834,273,527 - 34,334,126 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1834,377,713 - 34,438,299 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01835,096,031 - 35,156,627 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01834,472,938 - 34,533,528 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01836,596,568 - 36,657,157 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1836,596,585 - 36,656,314 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01836,261,314 - 36,324,255 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41835,497,009 - 35,534,875 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11835,509,050 - 35,571,571 (+)NCBI
Celera1833,870,445 - 33,933,031 (+)NCBICelera
Cytogenetic Map18p11NCBI
Rbm27
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554157,829,022 - 7,901,720 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554157,829,022 - 7,901,617 (-)NCBIChiLan1.0ChiLan1.0
RBM27
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24141,455,854 - 141,544,561 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15139,595,425 - 139,679,989 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05141,651,921 - 141,736,469 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15147,666,510 - 147,751,458 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5147,666,510 - 147,751,217 (+)Ensemblpanpan1.1panPan2
RBM27
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1240,634,447 - 40,709,741 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha237,678,715 - 37,753,551 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0241,098,063 - 41,173,232 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl241,098,110 - 41,170,894 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1238,164,782 - 38,239,619 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0238,981,171 - 39,055,972 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0239,806,487 - 39,881,360 (+)NCBIUU_Cfam_GSD_1.0
Rbm27
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213146,827,213 - 146,908,028 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365048,400,445 - 8,482,011 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365048,401,186 - 8,481,986 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM27
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2147,569,793 - 147,644,237 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12147,569,762 - 147,644,243 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22154,039,672 - 154,075,885 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RBM27
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12348,779,604 - 48,864,906 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2348,779,623 - 48,861,585 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603428,925,146 - 29,010,987 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbm27
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247745,691,601 - 5,764,721 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247745,691,699 - 5,766,931 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBM27
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
GRCh38/hg38 5q32(chr5:145197355-148541511)x1 copy number loss See cases [RCV000136679] Chr5:145197355..148541511 [GRCh38]
Chr5:144576918..147921074 [GRCh37]
Chr5:144557111..147901267 [NCBI36]
Chr5:5q32		 pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 copy number gain See cases [RCV000139504] Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1 copy number loss See cases [RCV000510497] Chr5:141113273..149154835 [GRCh37]
Chr5:5q31.3-32		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_018989.2(RBM27):c.754A>C (p.Thr252Pro) single nucleotide variant not specified [RCV004310967] Chr5:146230821 [GRCh38]
Chr5:145610384 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1321G>C (p.Glu441Gln) single nucleotide variant not specified [RCV004308693] Chr5:146251752 [GRCh38]
Chr5:145631315 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2212T>A (p.Ser738Thr) single nucleotide variant not specified [RCV004301238] Chr5:146263512 [GRCh38]
Chr5:145643075 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.602G>T (p.Arg201Ile) single nucleotide variant not specified [RCV004326555] Chr5:146230669 [GRCh38]
Chr5:145610232 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787435] Chr5:144027815..146077337 [GRCh37]
Chr5:5q31.3-32		 uncertain significance
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 copy number gain not provided [RCV000848228] Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_018989.2(RBM27):c.3061A>G (p.Ile1021Val) single nucleotide variant not specified [RCV004307926] Chr5:146284694 [GRCh38]
Chr5:145664257 [GRCh37]
Chr5:5q32		 likely benign
NM_018989.2(RBM27):c.1343C>T (p.Pro448Leu) single nucleotide variant not specified [RCV004236135] Chr5:146251774 [GRCh38]
Chr5:145631337 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.3031A>G (p.Ile1011Val) single nucleotide variant not specified [RCV004109123] Chr5:146284664 [GRCh38]
Chr5:145664227 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2930C>T (p.Ala977Val) single nucleotide variant not specified [RCV004136825] Chr5:146271616 [GRCh38]
Chr5:145651179 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2803C>T (p.Arg935Trp) single nucleotide variant not specified [RCV004205387] Chr5:146271489 [GRCh38]
Chr5:145651052 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1000C>T (p.Pro334Ser) single nucleotide variant not specified [RCV004160497] Chr5:146233599 [GRCh38]
Chr5:145613162 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.785A>G (p.Asn262Ser) single nucleotide variant not specified [RCV004084636] Chr5:146230852 [GRCh38]
Chr5:145610415 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2951T>G (p.Ile984Ser) single nucleotide variant not specified [RCV004240655] Chr5:146271637 [GRCh38]
Chr5:145651200 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2273A>G (p.Asn758Ser) single nucleotide variant not specified [RCV004158599] Chr5:146263573 [GRCh38]
Chr5:145643136 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1096C>A (p.Pro366Thr) single nucleotide variant not specified [RCV004164381] Chr5:146233695 [GRCh38]
Chr5:145613258 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1426C>T (p.Pro476Ser) single nucleotide variant not specified [RCV004102516] Chr5:146251857 [GRCh38]
Chr5:145631420 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.315G>T (p.Glu105Asp) single nucleotide variant not specified [RCV004185267] Chr5:146228957 [GRCh38]
Chr5:145608520 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.388G>A (p.Glu130Lys) single nucleotide variant not specified [RCV004149342] Chr5:146229030 [GRCh38]
Chr5:145608593 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1081A>G (p.Met361Val) single nucleotide variant not specified [RCV004126698] Chr5:146233680 [GRCh38]
Chr5:145613243 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1433C>G (p.Pro478Arg) single nucleotide variant not specified [RCV004222986] Chr5:146251864 [GRCh38]
Chr5:145631427 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2299A>T (p.Asn767Tyr) single nucleotide variant not specified [RCV004230780] Chr5:146263599 [GRCh38]
Chr5:145643162 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.3019C>T (p.Arg1007Cys) single nucleotide variant not specified [RCV004080134] Chr5:146284652 [GRCh38]
Chr5:145664215 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.442C>T (p.Arg148Trp) single nucleotide variant not specified [RCV004150497] Chr5:146229763 [GRCh38]
Chr5:145609326 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.526C>G (p.Leu176Val) single nucleotide variant not specified [RCV004217315] Chr5:146229847 [GRCh38]
Chr5:145609410 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.8T>C (p.Ile3Thr) single nucleotide variant not specified [RCV004287436] Chr5:146203773 [GRCh38]
Chr5:145583336 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2891G>T (p.Gly964Val) single nucleotide variant not specified [RCV004278098] Chr5:146271577 [GRCh38]
Chr5:145651140 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2827C>G (p.Arg943Gly) single nucleotide variant not specified [RCV004269263] Chr5:146271513 [GRCh38]
Chr5:145651076 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.22G>A (p.Ala8Thr) single nucleotide variant not specified [RCV004316405] Chr5:146203787 [GRCh38]
Chr5:145583350 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.466T>G (p.Tyr156Asp) single nucleotide variant not specified [RCV004328615] Chr5:146229787 [GRCh38]
Chr5:145609350 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.407A>G (p.Lys136Arg) single nucleotide variant not specified [RCV004351750] Chr5:146229728 [GRCh38]
Chr5:145609291 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1029G>A (p.Pro343=) single nucleotide variant not provided [RCV003428659] Chr5:146233628 [GRCh38]
Chr5:145613191 [GRCh37]
Chr5:5q32		 likely benign
GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1 copy number loss not specified [RCV003986541] Chr5:141566629..147240595 [GRCh37]
Chr5:5q31.3-32		 pathogenic
NM_018989.2(RBM27):c.1180C>T (p.Arg394Cys) single nucleotide variant not specified [RCV004441224] Chr5:146237333 [GRCh38]
Chr5:145616896 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.188G>A (p.Gly63Asp) single nucleotide variant not specified [RCV004441227] Chr5:146223412 [GRCh38]
Chr5:145602975 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2290C>T (p.His764Tyr) single nucleotide variant not specified [RCV004441228] Chr5:146263590 [GRCh38]
Chr5:145643153 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2687C>T (p.Thr896Met) single nucleotide variant not specified [RCV004441231] Chr5:146269580 [GRCh38]
Chr5:145649143 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.3153T>A (p.Asp1051Glu) single nucleotide variant not specified [RCV004441233] Chr5:146286000 [GRCh38]
Chr5:145665563 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.469C>T (p.Arg157Cys) single nucleotide variant not specified [RCV004441234] Chr5:146229790 [GRCh38]
Chr5:145609353 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.557G>A (p.Arg186His) single nucleotide variant not specified [RCV004441235] Chr5:146229878 [GRCh38]
Chr5:145609441 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.1531A>G (p.Thr511Ala) single nucleotide variant not specified [RCV004441226] Chr5:146255029 [GRCh38]
Chr5:145634592 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2579C>T (p.Ala860Val) single nucleotide variant not specified [RCV004441229] Chr5:146269472 [GRCh38]
Chr5:145649035 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2685A>T (p.Lys895Asn) single nucleotide variant not specified [RCV004441230] Chr5:146269578 [GRCh38]
Chr5:145649141 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.973C>A (p.Pro325Thr) single nucleotide variant not specified [RCV004441236] Chr5:146233572 [GRCh38]
Chr5:145613135 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.59+3G>A single nucleotide variant RBM27-related disorder [RCV003964064] Chr5:146203827 [GRCh38]
Chr5:145583390 [GRCh37]
Chr5:5q32		 likely benign
NM_018989.2(RBM27):c.1081A>T (p.Met361Leu) single nucleotide variant RBM27-related disorder [RCV003944111] Chr5:146233680 [GRCh38]
Chr5:145613243 [GRCh37]
Chr5:5q32		 likely benign
NM_018989.2(RBM27):c.1020CCCAGGCCCGGGCCCAGGTCCAGG[1] (p.337PG[7]) microsatellite RBM27-related disorder [RCV003956941] Chr5:146233608..146233631 [GRCh38]
Chr5:145613171..145613194 [GRCh37]
Chr5:5q32		 likely benign
NM_018989.2(RBM27):c.1211A>G (p.Asn404Ser) single nucleotide variant not specified [RCV004441225] Chr5:146237364 [GRCh38]
Chr5:145616927 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2873G>A (p.Arg958His) single nucleotide variant not specified [RCV004441232] Chr5:146271559 [GRCh38]
Chr5:145651122 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2992G>A (p.Ala998Thr) single nucleotide variant not specified [RCV004660835] Chr5:146284625 [GRCh38]
Chr5:145664188 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.449A>G (p.Tyr150Cys) single nucleotide variant not specified [RCV004660836] Chr5:146229770 [GRCh38]
Chr5:145609333 [GRCh37]
Chr5:5q32		 uncertain significance
NM_018989.2(RBM27):c.2285C>A (p.Ala762Glu) single nucleotide variant not specified [RCV004660837] Chr5:146263585 [GRCh38]
Chr5:145643148 [GRCh37]
Chr5:5q32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1590
Count of miRNA genes:893
Interacting mature miRNAs:1097
Transcripts:ENST00000265271, ENST00000506502, ENST00000508019
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407388586GWAS1037562_Hserum gamma-glutamyl transferase measurement QTL GWAS1037562 (human)3e-08serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)5146251174146251175Human
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
407317854GWAS966830_Halcohol consumption measurement QTL GWAS966830 (human)4e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)5146240294146240295Human
407386772GWAS1035748_Hobsolete_red blood cell distribution width QTL GWAS1035748 (human)2e-10obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5146278505146278506Human
407082460GWAS731436_Hobsolete_red blood cell distribution width QTL GWAS731436 (human)7e-09obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5146278505146278506Human

Markers in Region
RH101925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375145,665,867 - 145,666,012UniSTSGRCh37
Build 365145,646,060 - 145,646,205RGDNCBI36
Celera5141,745,786 - 141,745,931RGD
Cytogenetic Map5q32UniSTS
HuRef5140,812,579 - 140,812,724UniSTS
GeneMap99-GB4 RH Map5553.53UniSTS
bac51209T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375145,616,930 - 145,617,162UniSTSGRCh37
Build 365145,597,123 - 145,597,355RGDNCBI36
Celera5141,696,848 - 141,697,080RGD
Cytogenetic Map5q32UniSTS
HuRef5140,763,594 - 140,763,826UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2577 2790 2286 5345 1769 2615 12 646 2189 490 2535 7734 6739 106 3846 2 917 1871 1853 187 2

Sequence


Ensembl Acc Id: ENST00000265271   ⟹   ENSP00000265271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,203,605 - 146,289,223 (+)Ensembl
Ensembl Acc Id: ENST00000506502   ⟹   ENSP00000475384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,203,550 - 146,339,251 (+)Ensembl
Ensembl Acc Id: ENST00000508019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,261,383 - 146,263,519 (+)Ensembl
RefSeq Acc Id: NM_018989   ⟹   NP_061862
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,203,605 - 146,289,223 (+)NCBI
GRCh375145,583,113 - 145,668,786 (+)NCBI
Celera5141,663,078 - 141,748,705 (+)RGD
HuRef5140,729,821 - 140,815,498 (+)ENTREZGENE
CHM1_15145,015,942 - 145,101,491 (+)NCBI
T2T-CHM13v2.05146,739,205 - 146,824,811 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_061862 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH09537 (Get FASTA)   NCBI Sequence Viewer  
  AAH33524 (Get FASTA)   NCBI Sequence Viewer  
  BAA92549 (Get FASTA)   NCBI Sequence Viewer  
  BAG54723 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265271
  ENSP00000265271.5
  ENSP00000475384.1
GenBank Protein Q9P2N5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_061862   ⟸   NM_018989
- UniProtKB: Q8IYW9 (UniProtKB/Swiss-Prot),   Q9P2N5 (UniProtKB/Swiss-Prot),   U3KPZ7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000475384   ⟸   ENST00000506502
Ensembl Acc Id: ENSP00000265271   ⟸   ENST00000265271
Protein Domains
C3H1-type   PWI   RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2N5-F1-model_v2 AlphaFold Q9P2N5 1-1060 view protein structure

Promoters
RGD ID:6803498
Promoter ID:HG_KWN:51441
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018989,   UC003LNY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365145,563,014 - 145,563,514 (+)MPROMDB
RGD ID:6871120
Promoter ID:EPDNEW_H8724
Type:initiation region
Name:RBM27_1
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8725  EPDNEW_H8727  EPDNEW_H8726  EPDNEW_H8728  EPDNEW_H8729  EPDNEW_H8730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,203,605 - 146,203,665EPDNEW
RGD ID:6871122
Promoter ID:EPDNEW_H8725
Type:initiation region
Name:RBM27_6
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8724  EPDNEW_H8727  EPDNEW_H8726  EPDNEW_H8728  EPDNEW_H8729  EPDNEW_H8730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,230,765 - 146,230,825EPDNEW
RGD ID:6871126
Promoter ID:EPDNEW_H8726
Type:initiation region
Name:RBM27_3
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8724  EPDNEW_H8725  EPDNEW_H8727  EPDNEW_H8728  EPDNEW_H8729  EPDNEW_H8730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,237,380 - 146,237,440EPDNEW
RGD ID:6871124
Promoter ID:EPDNEW_H8727
Type:initiation region
Name:RBM27_5
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8724  EPDNEW_H8725  EPDNEW_H8726  EPDNEW_H8728  EPDNEW_H8729  EPDNEW_H8730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,251,770 - 146,251,830EPDNEW
RGD ID:6871128
Promoter ID:EPDNEW_H8728
Type:initiation region
Name:RBM27_7
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8724  EPDNEW_H8725  EPDNEW_H8727  EPDNEW_H8726  EPDNEW_H8729  EPDNEW_H8730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,284,636 - 146,284,696EPDNEW
RGD ID:6871130
Promoter ID:EPDNEW_H8729
Type:initiation region
Name:RBM27_4
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8724  EPDNEW_H8725  EPDNEW_H8727  EPDNEW_H8726  EPDNEW_H8728  EPDNEW_H8730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,286,340 - 146,286,400EPDNEW
RGD ID:6871186
Promoter ID:EPDNEW_H8730
Type:multiple initiation site
Name:RBM27_2
Description:RNA binding motif protein 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8724  EPDNEW_H8725  EPDNEW_H8727  EPDNEW_H8726  EPDNEW_H8728  EPDNEW_H8729  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,287,150 - 146,287,210EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29243 AgrOrtholog
COSMIC RBM27 COSMIC
Ensembl Genes ENSG00000091009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000275740 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265271 ENTREZGENE
  ENST00000265271.7 UniProtKB/Swiss-Prot
  ENST00000506502.2 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWI domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091009 GTEx
  ENSG00000275740 GTEx
HGNC ID HGNC:29243 ENTREZGENE
Human Proteome Map RBM27 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM26/27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM27_RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54439 UniProtKB/Swiss-Prot
NCBI Gene 54439 ENTREZGENE
OMIM 620082 OMIM
PANTHER PTHR14398 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA-BINDING PROTEIN 27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134925458 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q05DK9_HUMAN UniProtKB/TrEMBL
  Q8IYW9 ENTREZGENE
  Q9P2N5 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KPZ7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q8IYW9 UniProtKB/Swiss-Prot