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:32310
Description: Enables RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously 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
GRCh38893,728,155 - 93,741,009 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl893,728,155 - 93,741,017 (-)EnsemblGRCh38hg38GRCh38
GRCh37894,740,383 - 94,753,237 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,812,904 - 94,822,400 (-)NCBINCBI36Build 36hg18NCBI36
Celera890,929,789 - 90,939,285 (-)NCBICelera
Cytogenetic Map8q22.1NCBI
HuRef889,951,263 - 89,960,755 (-)NCBIHuRef
CHM1_1894,784,018 - 94,793,512 (-)NCBICHM1_1
T2T-CHM13v2.0894,853,161 - 94,866,033 (-)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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions 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:32344865   PMID:32780723   PMID:32989298   PMID:33378683  
PMID:33961781   PMID:34133714   PMID:34316707   PMID:35198878   PMID:35509820   PMID:36215168   PMID:36424410   PMID:36526897   PMID:37689310  


Genomics

Comparative Map Data
RBM12B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38893,728,155 - 93,741,009 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl893,728,155 - 93,741,017 (-)EnsemblGRCh38hg38GRCh38
GRCh37894,740,383 - 94,753,237 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,812,904 - 94,822,400 (-)NCBINCBI36Build 36hg18NCBI36
Celera890,929,789 - 90,939,285 (-)NCBICelera
Cytogenetic Map8q22.1NCBI
HuRef889,951,263 - 89,960,755 (-)NCBIHuRef
CHM1_1894,784,018 - 94,793,512 (-)NCBICHM1_1
T2T-CHM13v2.0894,853,161 - 94,866,033 (-)NCBIT2T-CHM13v2.0
Rbm12b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,138,957 - 12,148,922 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl412,140,264 - 12,146,731 (+)EnsemblGRCm39 Ensembl
GRCm38412,138,957 - 12,148,922 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,140,264 - 12,146,731 (+)EnsemblGRCm38mm10GRCm38
MGSCv37412,067,264 - 12,073,892 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36412,067,464 - 12,073,878 (+)NCBIMGSCv36mm8
Celera328,599,613 - 28,600,101 (+)NCBICelera
Cytogenetic Map4A1NCBI
cM Map45.58NCBI
Rbm12b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8530,394,756 - 30,507,428 (+)NCBIGRCr8
mRatBN7.2525,597,405 - 25,610,324 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl525,590,493 - 25,611,245 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0525,247,990 - 25,257,678 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl525,253,010 - 25,255,938 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0529,962,425 - 29,970,746 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,382,356 - 26,385,470 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v27111,065,895 - 111,074,128 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1886,601,667 - 86,611,299 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0890,355,185 - 90,364,933 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1892,297,760 - 92,311,017 (-)NCBIpanpan1.1PanPan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02938,834,294 - 38,846,338 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2938,839,007 - 38,841,988 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12938,848,170 - 38,860,213 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02938,842,743 - 38,854,785 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02939,284,239 - 39,296,282 (-)NCBIUU_Cfam_GSD_1.0
Rbm12b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,905,062 - 40,920,952 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365446,872,336 - 6,875,155 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 42,958,842 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1888,704,297 - 88,712,569 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl888,704,951 - 88,707,956 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603952,136,722 - 52,149,155 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbm12b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247631,205,130 - 1,212,409 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624763726,665 - 1,219,697 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBM12B
52 total Variants

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
NM_001377960.1(RBM12B):c.1838A>G (p.His613Arg) single nucleotide variant Inborn genetic diseases [RCV003277596] Chr8:93734573 [GRCh38]
Chr8:94746801 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.515G>A (p.Arg172His) single nucleotide variant Inborn genetic diseases [RCV003282844] Chr8:93735896 [GRCh38]
Chr8:94748124 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1742G>A (p.Arg581Gln) single nucleotide variant Inborn genetic diseases [RCV003269914] Chr8:93734669 [GRCh38]
Chr8:94746897 [GRCh37]
Chr8:8q22.1
uncertain significance
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 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [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
NM_001377960.1(RBM12B):c.2564C>T (p.Pro855Leu) single nucleotide variant Inborn genetic diseases [RCV003239484] Chr8:93733847 [GRCh38]
Chr8:94746075 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274) copy number loss not provided [RCV003236711] Chr8:89179899..97978274 [GRCh37]
Chr8:8q21.3-22.1
pathogenic
NM_145269.5(CIBAR1):c.788G>T (p.Cys263Phe) single nucleotide variant Inborn genetic diseases [RCV003250013] Chr8:93728215 [GRCh38]
Chr8:94740443 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11
pathogenic
NM_001377960.1(RBM12B):c.486G>T (p.Leu162Phe) single nucleotide variant Myoepithelial tumor [RCV002463965] Chr8:93735925 [GRCh38]
Chr8:94748153 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1742G>T (p.Arg581Leu) single nucleotide variant Inborn genetic diseases [RCV002841802] Chr8:93734669 [GRCh38]
Chr8:94746897 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1885C>T (p.Arg629Trp) single nucleotide variant Inborn genetic diseases [RCV002992100] Chr8:93734526 [GRCh38]
Chr8:94746754 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2333A>C (p.His778Pro) single nucleotide variant Inborn genetic diseases [RCV002772879] Chr8:93734078 [GRCh38]
Chr8:94746306 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr) single nucleotide variant Inborn genetic diseases [RCV002683790] Chr8:93734979 [GRCh38]
Chr8:94747207 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2005C>T (p.Arg669Trp) single nucleotide variant Inborn genetic diseases [RCV002997477] Chr8:93734406 [GRCh38]
Chr8:94746634 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2195G>T (p.Arg732Leu) single nucleotide variant Inborn genetic diseases [RCV002779435] Chr8:93734216 [GRCh38]
Chr8:94746444 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1000C>G (p.Leu334Val) single nucleotide variant Inborn genetic diseases [RCV002882597] Chr8:93735411 [GRCh38]
Chr8:94747639 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2375A>C (p.Gln792Pro) single nucleotide variant Inborn genetic diseases [RCV002992038] Chr8:93734036 [GRCh38]
Chr8:94746264 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1424T>C (p.Ile475Thr) single nucleotide variant Inborn genetic diseases [RCV002817086] Chr8:93734987 [GRCh38]
Chr8:94747215 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1044A>C (p.Leu348Phe) single nucleotide variant Inborn genetic diseases [RCV002907298] Chr8:93735367 [GRCh38]
Chr8:94747595 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1835G>A (p.Arg612Lys) single nucleotide variant Inborn genetic diseases [RCV002993113] Chr8:93734576 [GRCh38]
Chr8:94746804 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.175C>T (p.Arg59Cys) single nucleotide variant Inborn genetic diseases [RCV002684780] Chr8:93736236 [GRCh38]
Chr8:94748464 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2053C>T (p.Arg685Trp) single nucleotide variant Inborn genetic diseases [RCV002946873] Chr8:93734358 [GRCh38]
Chr8:94746586 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.322A>G (p.Asn108Asp) single nucleotide variant Inborn genetic diseases [RCV002762739] Chr8:93736089 [GRCh38]
Chr8:94748317 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.835C>T (p.Arg279Cys) single nucleotide variant Inborn genetic diseases [RCV002707285] Chr8:93735576 [GRCh38]
Chr8:94747804 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1453G>A (p.Val485Ile) single nucleotide variant Inborn genetic diseases [RCV002844712] Chr8:93734958 [GRCh38]
Chr8:94747186 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.592A>G (p.Ile198Val) single nucleotide variant Inborn genetic diseases [RCV002821081] Chr8:93735819 [GRCh38]
Chr8:94748047 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1388G>A (p.Arg463Gln) single nucleotide variant Inborn genetic diseases [RCV002693890] Chr8:93735023 [GRCh38]
Chr8:94747251 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1977A>C (p.Leu659Phe) single nucleotide variant Inborn genetic diseases [RCV002759068] Chr8:93734434 [GRCh38]
Chr8:94746662 [GRCh37]
Chr8:8q22.1
likely benign
NM_001377960.1(RBM12B):c.2276C>T (p.Pro759Leu) single nucleotide variant Inborn genetic diseases [RCV002910649] Chr8:93734135 [GRCh38]
Chr8:94746363 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1484T>C (p.Met495Thr) single nucleotide variant Inborn genetic diseases [RCV002892114] Chr8:93734927 [GRCh38]
Chr8:94747155 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1094A>C (p.Lys365Thr) single nucleotide variant Inborn genetic diseases [RCV002698078] Chr8:93735317 [GRCh38]
Chr8:94747545 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1730A>C (p.Glu577Ala) single nucleotide variant Inborn genetic diseases [RCV002983238] Chr8:93734681 [GRCh38]
Chr8:94746909 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.514C>T (p.Arg172Cys) single nucleotide variant Inborn genetic diseases [RCV002802606] Chr8:93735897 [GRCh38]
Chr8:94748125 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.803C>G (p.Ser268Cys) single nucleotide variant Inborn genetic diseases [RCV003004157] Chr8:93735608 [GRCh38]
Chr8:94747836 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1045C>A (p.Gln349Lys) single nucleotide variant Inborn genetic diseases [RCV002930396] Chr8:93735366 [GRCh38]
Chr8:94747594 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2836C>T (p.His946Tyr) single nucleotide variant Inborn genetic diseases [RCV002744471] Chr8:93733575 [GRCh38]
Chr8:94745803 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2155C>G (p.Pro719Ala) single nucleotide variant Inborn genetic diseases [RCV002875157] Chr8:93734256 [GRCh38]
Chr8:94746484 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.59G>A (p.Arg20His) single nucleotide variant Inborn genetic diseases [RCV002916943] Chr8:93736352 [GRCh38]
Chr8:94748580 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1685C>T (p.Ser562Leu) single nucleotide variant Inborn genetic diseases [RCV002713045] Chr8:93734726 [GRCh38]
Chr8:94746954 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2990A>C (p.Lys997Thr) single nucleotide variant Inborn genetic diseases [RCV002959331] Chr8:93733421 [GRCh38]
Chr8:94745649 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2321C>T (p.Pro774Leu) single nucleotide variant Inborn genetic diseases [RCV002668514] Chr8:93734090 [GRCh38]
Chr8:94746318 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1824G>T (p.Glu608Asp) single nucleotide variant Inborn genetic diseases [RCV002920594] Chr8:93734587 [GRCh38]
Chr8:94746815 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.511G>T (p.Val171Leu) single nucleotide variant Inborn genetic diseases [RCV002935693] Chr8:93735900 [GRCh38]
Chr8:94748128 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1199T>A (p.Leu400Gln) single nucleotide variant Inborn genetic diseases [RCV002854747] Chr8:93735212 [GRCh38]
Chr8:94747440 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1919C>T (p.Thr640Met) single nucleotide variant Inborn genetic diseases [RCV002673190] Chr8:93734492 [GRCh38]
Chr8:94746720 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1540A>G (p.Lys514Glu) single nucleotide variant Inborn genetic diseases [RCV002808237] Chr8:93734871 [GRCh38]
Chr8:94747099 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2164C>T (p.His722Tyr) single nucleotide variant Inborn genetic diseases [RCV003210121] Chr8:93734247 [GRCh38]
Chr8:94746475 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.269G>A (p.Arg90His) single nucleotide variant Inborn genetic diseases [RCV003190490] Chr8:93736142 [GRCh38]
Chr8:94748370 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1706C>G (p.Pro569Arg) single nucleotide variant Inborn genetic diseases [RCV003191889] Chr8:93734705 [GRCh38]
Chr8:94746933 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.268C>T (p.Arg90Cys) single nucleotide variant Inborn genetic diseases [RCV003184756] Chr8:93736143 [GRCh38]
Chr8:94748371 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.710G>T (p.Gly237Val) single nucleotide variant Inborn genetic diseases [RCV003217727] Chr8:93735701 [GRCh38]
Chr8:94747929 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2806G>A (p.Ala936Thr) single nucleotide variant Inborn genetic diseases [RCV003200112] Chr8:93733605 [GRCh38]
Chr8:94745833 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_145269.5(CIBAR1):c.800A>G (p.Lys267Arg) single nucleotide variant Inborn genetic diseases [RCV003178577] Chr8:93728227 [GRCh38]
Chr8:94740455 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.404A>G (p.Asn135Ser) single nucleotide variant Inborn genetic diseases [RCV003207763] Chr8:93736007 [GRCh38]
Chr8:94748235 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1030C>A (p.His344Asn) single nucleotide variant Inborn genetic diseases [RCV003343379] Chr8:93735381 [GRCh38]
Chr8:94747609 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2170C>T (p.Arg724Trp) single nucleotide variant Inborn genetic diseases [RCV003362638] Chr8:93734241 [GRCh38]
Chr8:94746469 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.1702C>T (p.Pro568Ser) single nucleotide variant Inborn genetic diseases [RCV003346892] Chr8:93734709 [GRCh38]
Chr8:94746937 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2425G>A (p.Glu809Lys) single nucleotide variant Inborn genetic diseases [RCV003364403] Chr8:93733986 [GRCh38]
Chr8:94746214 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.459G>T (p.Glu153Asp) single nucleotide variant Inborn genetic diseases [RCV003349905] Chr8:93735952 [GRCh38]
Chr8:94748180 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.989T>C (p.Met330Thr) single nucleotide variant Inborn genetic diseases [RCV003386007] Chr8:93735422 [GRCh38]
Chr8:94747650 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001377960.1(RBM12B):c.2102G>A (p.Arg701Gln) single nucleotide variant Inborn genetic diseases [RCV003383143] Chr8:93734309 [GRCh38]
Chr8:94746537 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1 copy number loss not provided [RCV003483033] Chr8:86955187..94955826 [GRCh37]
Chr8:8q21.3-22.1
uncertain significance
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1 copy number loss not provided [RCV003483032] Chr8:84127576..98263585 [GRCh37]
Chr8:8q21.13-22.1
pathogenic
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3
pathogenic
GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3 copy number gain not provided [RCV003484744] Chr8:94622851..96626603 [GRCh37]
Chr8:8q22.1
uncertain significance
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.

Markers in Region
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


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

Nucleotide Sequences
RefSeq Transcripts NM_001377960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000399300   ⟹   ENSP00000382239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,728,155 - 93,741,017 (-)Ensembl
RefSeq Acc Id: ENST00000517700   ⟹   ENSP00000427729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,728,155 - 93,740,989 (-)Ensembl
RefSeq Acc Id: ENST00000518597   ⟹   ENSP00000428269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,728,155 - 93,741,001 (-)Ensembl
RefSeq Acc Id: ENST00000519109   ⟹   ENSP00000430474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,728,155 - 93,740,718 (-)Ensembl
RefSeq Acc Id: ENST00000520560   ⟹   ENSP00000429807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,728,155 - 93,741,009 (-)Ensembl
RefSeq Acc Id: ENST00000520961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,730,633 - 93,739,191 (-)Ensembl
RefSeq Acc Id: ENST00000521947   ⟹   ENSP00000430466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl893,736,163 - 93,740,989 (-)Ensembl
RefSeq Acc Id: ENST00000627241   ⟹   ENSP00000487257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0894,853,161 - 94,866,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377961   ⟹   NP_001364890
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
T2T-CHM13v2.0894,853,161 - 94,866,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377962   ⟹   NP_001364891
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
T2T-CHM13v2.0894,853,161 - 94,866,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377963   ⟹   NP_001364892
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,740,770 (-)NCBI
T2T-CHM13v2.0894,853,161 - 94,865,772 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377964   ⟹   NP_001364893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,740,770 (-)NCBI
T2T-CHM13v2.0894,853,161 - 94,865,772 (-)NCBI
Sequence:
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
T2T-CHM13v2.0894,853,161 - 94,866,011 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517029   ⟹   XP_011515331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013408   ⟹   XP_016868897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421770   ⟹   XP_047277726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,732,773 - 93,741,009 (-)NCBI
RefSeq Acc Id: XM_047421771   ⟹   XP_047277727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
RefSeq Acc Id: XM_047421772   ⟹   XP_047277728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
RefSeq Acc Id: XM_047421773   ⟹   XP_047277729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,728,155 - 93,741,009 (-)NCBI
RefSeq Acc Id: XM_047421774   ⟹   XP_047277730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,732,773 - 93,741,009 (-)NCBI
RefSeq Acc Id: XM_047421775   ⟹   XP_047277731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,732,773 - 93,740,770 (-)NCBI
RefSeq Acc Id: XM_047421776   ⟹   XP_047277732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,732,773 - 93,741,009 (-)NCBI
RefSeq Acc Id: XM_054360462   ⟹   XP_054216437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,857,781 - 94,866,011 (-)NCBI
RefSeq Acc Id: XM_054360463   ⟹   XP_054216438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,853,161 - 94,866,000 (-)NCBI
RefSeq Acc Id: XM_054360464   ⟹   XP_054216439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,853,161 - 94,866,011 (-)NCBI
RefSeq Acc Id: XM_054360465   ⟹   XP_054216440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,857,781 - 94,866,011 (-)NCBI
RefSeq Acc Id: XM_054360466   ⟹   XP_054216441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,857,781 - 94,865,795 (-)NCBI
RefSeq Acc Id: XM_054360467   ⟹   XP_054216442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,857,781 - 94,866,011 (-)NCBI
RefSeq Acc Id: XM_054360468   ⟹   XP_054216443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,853,161 - 94,866,033 (-)NCBI
RefSeq Acc Id: XM_054360469   ⟹   XP_054216444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0894,853,161 - 94,866,011 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001364889 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364890 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364891 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364892 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364893 (Get FASTA)   NCBI Sequence Viewer  
  NP_976324 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515331 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868897 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277727 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277728 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277729 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277730 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277731 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277732 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216443 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216444 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EAW91699 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382239
  ENSP00000382239.2
  ENSP00000427729
  ENSP00000427729.2
  ENSP00000428269
  ENSP00000428269.2
  ENSP00000429807
  ENSP00000429807.2
  ENSP00000430474
  ENSP00000430474.2
GenBank Protein Q8IXT5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_976324   ⟸   NM_203390
- UniProtKB: A8MYB5 (UniProtKB/Swiss-Prot),   Q8IXT5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515331   ⟸   XM_011517029
- Peptide Label: isoform X1
- UniProtKB: A8MYB5 (UniProtKB/Swiss-Prot),   Q8IXT5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868897   ⟸   XM_017013408
- Peptide Label: isoform X1
- UniProtKB: A8MYB5 (UniProtKB/Swiss-Prot),   Q8IXT5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364891   ⟸   NM_001377962
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364889   ⟸   NM_001377960
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364890   ⟸   NM_001377961
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364893   ⟸   NM_001377964
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364892   ⟸   NM_001377963
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
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
RefSeq Acc Id: XP_047277728   ⟸   XM_047421772
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277729   ⟸   XM_047421773
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277727   ⟸   XM_047421771
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277732   ⟸   XM_047421776
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277730   ⟸   XM_047421774
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277726   ⟸   XM_047421770
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277731   ⟸   XM_047421775
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216443   ⟸   XM_054360468
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216444   ⟸   XM_054360469
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216439   ⟸   XM_054360464
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216438   ⟸   XM_054360463
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216442   ⟸   XM_054360467
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216440   ⟸   XM_054360465
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216437   ⟸   XM_054360462
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216441   ⟸   XM_054360466
- Peptide Label: isoform X1
- UniProtKB: Q8IXT5 (UniProtKB/Swiss-Prot),   A8MYB5 (UniProtKB/Swiss-Prot),   B9ZVT1 (UniProtKB/TrEMBL)
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IXT5-F1-model_v2 AlphaFold Q8IXT5 1-1001 view protein structure

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

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 Transcript ENST00000399300 ENTREZGENE
  ENST00000399300.7 UniProtKB/Swiss-Prot
  ENST00000517700 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000517700.6 UniProtKB/Swiss-Prot
  ENST00000518597 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000518597.2 UniProtKB/Swiss-Prot
  ENST00000519109 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000519109.6 UniProtKB/Swiss-Prot
  ENST00000520560 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000520560.6 UniProtKB/Swiss-Prot
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
  RRM4_RBM12B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389677 UniProtKB/Swiss-Prot
NCBI Gene 389677 ENTREZGENE
PANTHER HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA-BINDING PROTEIN 12B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 A8MYB5 ENTREZGENE
  B9ZVT1 ENTREZGENE, UniProtKB/TrEMBL
  E5RHG1_HUMAN UniProtKB/TrEMBL
  E5RJ83_HUMAN UniProtKB/TrEMBL
  E5RJV8_HUMAN UniProtKB/TrEMBL
  Q8IXT5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MYB5 UniProtKB/Swiss-Prot