RBM12B (RNA binding motif protein 12B) - Rat Genome Database

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Gene: RBM12B (RNA binding motif protein 12B) Homo sapiens
Analyze
Symbol: RBM12B
Name: RNA binding motif protein 12B
RGD ID: 1602033
HGNC Page HGNC
Description: Exhibits RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to localize to nucleoplasm and ribonucleoprotein complex; INTERACTS WITH arsane; arsenic atom; atrazine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: MGC:33837; RNA-binding motif protein 12B; RNA-binding protein 12B
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 Ensembl893,729,356 - 93,741,017 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl893,728,155 - 93,741,017 (-)EnsemblGRCh38hg38GRCh38
GRCh38893,728,155 - 93,741,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,740,383 - 94,753,237 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,812,904 - 94,822,400 (-)NCBINCBI36hg18NCBI36
Celera890,929,789 - 90,939,285 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,951,263 - 89,960,755 (-)NCBIHuRef
CHM1_1894,784,018 - 94,793,512 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:17081983   PMID:21078624   PMID:21873635   PMID:22658674   PMID:22681889   PMID:22895009   PMID:22939629   PMID:23752268   PMID:24457600   PMID:24711643  
PMID:25665578   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26777405   PMID:26871637   PMID:26972000   PMID:28302793   PMID:28431233   PMID:28514442   PMID:29121065   PMID:29228324  
PMID:29509190   PMID:30021884   PMID:30480076   PMID:30581152   PMID:31091453   PMID:31180492   PMID:31586073   PMID:32296183   PMID:32780723  


Genomics

Comparative Map Data
RBM12B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,729,356 - 93,741,017 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl893,728,155 - 93,741,017 (-)EnsemblGRCh38hg38GRCh38
GRCh38893,728,155 - 93,741,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,740,383 - 94,753,237 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,812,904 - 94,822,400 (-)NCBINCBI36hg18NCBI36
Celera890,929,789 - 90,939,285 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,951,263 - 89,960,755 (-)NCBIHuRef
CHM1_1894,784,018 - 94,793,512 (-)NCBICHM1_1
Rbm12b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,138,957 - 12,148,922 (+)NCBIGRCm39mm39
GRCm39 Ensembl412,140,264 - 12,146,731 (+)Ensembl
GRCm38412,138,957 - 12,148,922 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,140,264 - 12,146,731 (+)EnsemblGRCm38mm10GRCm38
MGSCv37412,067,264 - 12,073,892 (+)NCBIGRCm37mm9NCBIm37
MGSCv36412,067,464 - 12,073,878 (+)NCBImm8
Celera328,599,613 - 28,600,101 (+)NCBICelera
Cytogenetic Map4A1NCBI
Rbm12b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,597,405 - 25,610,324 (+)NCBI
Rnor_6.0 Ensembl525,253,010 - 25,255,938 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0525,247,990 - 25,257,678 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0529,962,425 - 29,970,746 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,382,356 - 26,385,470 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1526,381,763 - 26,384,888 (+)NCBI
Celera524,920,046 - 24,928,196 (+)NCBICelera
Cytogenetic Map5q13NCBI
Rbm12b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,083,944 - 10,086,802 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,067,672 - 10,097,381 (-)NCBIChiLan1.0ChiLan1.0
RBM12B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,297,760 - 92,311,017 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0890,355,185 - 90,364,933 (-)NCBIMhudiblu_PPA_v0panPan3
RBM12B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12938,631,313 - 38,641,998 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2938,634,742 - 38,637,723 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2938,792,185 - 38,804,225 (-)NCBI
ROS_Cfam_1.02938,834,294 - 38,846,338 (-)NCBI
UMICH_Zoey_3.12938,848,170 - 38,860,213 (-)NCBI
UNSW_CanFamBas_1.02938,842,743 - 38,854,785 (-)NCBI
UU_Cfam_GSD_1.02939,284,239 - 39,296,282 (-)NCBI
Rbm12b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,905,062 - 40,920,952 (+)NCBI
SpeTri2.0NW_0049365446,872,032 - 6,887,813 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM12B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,946,778 - 42,969,356 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,946,857 - 42,971,191 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2446,362,628 - 46,419,987 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBM12B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1888,704,297 - 88,712,569 (-)NCBI
ChlSab1.1 Ensembl888,704,951 - 88,707,956 (-)Ensembl
Vero_WHO_p1.0NW_02366603952,136,722 - 52,149,155 (+)NCBI
Rbm12b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624763726,665 - 1,219,697 (-)NCBI

Position Markers
RH99186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,745,054 - 94,745,218UniSTSGRCh37
Build 36894,814,230 - 94,814,394RGDNCBI36
Celera890,931,115 - 90,931,279RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,952,585 - 89,952,749UniSTS
GeneMap99-GB4 RH Map8433.93UniSTS
RH103674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,752,615 - 94,752,758UniSTSGRCh37
Build 36894,821,791 - 94,821,934RGDNCBI36
Celera890,938,676 - 90,938,819RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,960,146 - 89,960,289UniSTS
GeneMap99-GB4 RH Map8434.04UniSTS
RH65020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,746,395 - 94,746,582UniSTSGRCh37
Build 36894,815,571 - 94,815,758RGDNCBI36
Celera890,932,456 - 90,932,643RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,953,926 - 89,954,113UniSTS
GeneMap99-GB4 RH Map8433.93UniSTS
NCBI RH Map8899.7UniSTS
SGC30869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,746,098 - 94,746,227UniSTSGRCh37
Build 36894,815,274 - 94,815,403RGDNCBI36
Celera890,932,159 - 90,932,288RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,953,629 - 89,953,758UniSTS
GeneMap99-GB4 RH Map8434.36UniSTS
Whitehead-RH Map8545.6UniSTS
G31112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,752,752 - 94,752,898UniSTSGRCh37
Build 36894,821,928 - 94,822,074RGDNCBI36
Celera890,938,813 - 90,938,959RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,960,283 - 89,960,429UniSTS
SHGC-34309  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q22.1UniSTS
GeneMap99-GB4 RH Map8433.93UniSTS
Whitehead-RH Map8541.1UniSTS
NCBI RH Map8942.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3217
Count of miRNA genes:1005
Interacting mature miRNAs:1213
Transcripts:ENST00000399300, ENST00000517700, ENST00000518597, ENST00000519109, ENST00000520560, ENST00000520961, ENST00000521947
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.


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 309 413 551 59 774 41 870 151 648 97 1011 861 32 79 579 3
Low 2128 2452 1171 561 1058 420 3486 2039 3071 321 448 752 143 1 1125 2209 3 2
Below cutoff 2 126 4 4 119 4 7 15 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000399300   ⟹   ENSP00000382239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,729,356 - 93,741,017 (-)Ensembl
RefSeq Acc Id: ENST00000517700   ⟹   ENSP00000427729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,730,264 - 93,741,017 (-)Ensembl
RefSeq Acc Id: ENST00000518597   ⟹   ENSP00000428269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,735,981 - 93,741,001 (-)Ensembl
RefSeq Acc Id: ENST00000519109   ⟹   ENSP00000430474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,735,963 - 93,740,718 (-)Ensembl
RefSeq Acc Id: ENST00000520560   ⟹   ENSP00000429807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,736,044 - 93,740,956 (-)Ensembl
RefSeq Acc Id: ENST00000520961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,730,633 - 93,739,191 (-)Ensembl
RefSeq Acc Id: ENST00000521947   ⟹   ENSP00000430466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,736,163 - 93,740,989 (-)Ensembl
RefSeq Acc Id: ENST00000627241   ⟹   ENSP00000487257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,733,405 - 93,736,410 (-)Ensembl
RefSeq Acc Id: NM_001377960   ⟹   NP_001364889
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
RefSeq Acc Id: NM_001377961   ⟹   NP_001364890
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
RefSeq Acc Id: NM_001377962   ⟹   NP_001364891
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
RefSeq Acc Id: NM_001377963   ⟹   NP_001364892
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,740,770 (-)NCBI
RefSeq Acc Id: NM_001377964   ⟹   NP_001364893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,740,770 (-)NCBI
RefSeq Acc Id: NM_203390   ⟹   NP_976324
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
GRCh37894,742,798 - 94,753,268 (-)NCBI
Build 36894,812,904 - 94,822,400 (-)NCBI Archive
Celera890,929,789 - 90,939,285 (-)RGD
HuRef889,951,263 - 89,960,755 (-)RGD
CHM1_1894,784,018 - 94,793,512 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517029   ⟹   XP_011515331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,163 - 93,741,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013408   ⟹   XP_016868897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,163 - 93,740,997 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_976324   ⟸   NM_203390
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515331   ⟸   XM_011517029
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868897   ⟸   XM_017013408
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001364891   ⟸   NM_001377962
RefSeq Acc Id: NP_001364889   ⟸   NM_001377960
RefSeq Acc Id: NP_001364890   ⟸   NM_001377961
RefSeq Acc Id: NP_001364893   ⟸   NM_001377964
RefSeq Acc Id: NP_001364892   ⟸   NM_001377963
RefSeq Acc Id: ENSP00000427729   ⟸   ENST00000517700
RefSeq Acc Id: ENSP00000382239   ⟸   ENST00000399300
RefSeq Acc Id: ENSP00000428269   ⟸   ENST00000518597
RefSeq Acc Id: ENSP00000430474   ⟸   ENST00000519109
RefSeq Acc Id: ENSP00000487257   ⟸   ENST00000627241
RefSeq Acc Id: ENSP00000429807   ⟸   ENST00000520560
RefSeq Acc Id: ENSP00000430466   ⟸   ENST00000521947
Protein Domains
RRM

Promoters
RGD ID:7213757
Promoter ID:EPDNEW_H12624
Type:initiation region
Name:RBM12B_1
Description:RNA binding motif protein 12B
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
GRCh38893,740,985 - 93,741,045EPDNEW
RGD ID:6806682
Promoter ID:HG_KWN:61706
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000329529,   UC010MAS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,815,106 - 94,817,782 (-)MPROMDB
RGD ID:6806993
Promoter ID:HG_KWN:61708
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:NM_203390
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,822,139 - 94,822,639 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32310 AgrOrtholog
COSMIC RBM12B COSMIC
Ensembl Genes ENSG00000183808 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000382239 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427729 UniProtKB/TrEMBL
  ENSP00000428269 UniProtKB/TrEMBL
  ENSP00000429807 UniProtKB/TrEMBL
  ENSP00000430466 UniProtKB/TrEMBL
  ENSP00000430474 UniProtKB/TrEMBL
  ENSP00000487257 UniProtKB/TrEMBL
Ensembl Transcript ENST00000399300 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517700 UniProtKB/TrEMBL
  ENST00000518597 UniProtKB/TrEMBL
  ENST00000519109 UniProtKB/TrEMBL
  ENST00000520560 UniProtKB/TrEMBL
  ENST00000521947 UniProtKB/TrEMBL
  ENST00000627241 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183808 GTEx
HGNC ID HGNC:32310 ENTREZGENE
Human Proteome Map RBM12B Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM12B_RRM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM12B_RRM3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389677 UniProtKB/Swiss-Prot
NCBI Gene 389677 ENTREZGENE
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671098 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9ZVT1_HUMAN UniProtKB/TrEMBL
  E5RHG1_HUMAN UniProtKB/TrEMBL
  E5RJ83_HUMAN UniProtKB/TrEMBL
  E5RJV8_HUMAN UniProtKB/TrEMBL
  E5RJW8_HUMAN UniProtKB/TrEMBL
  Q8IXT5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MYB5 UniProtKB/Swiss-Prot