TRMT12 (tRNA methyltransferase 12 homolog) - Rat Genome Database

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Gene: TRMT12 (tRNA methyltransferase 12 homolog) Homo sapiens
Analyze
Symbol: TRMT12
Name: tRNA methyltransferase 12 homolog
RGD ID: 1605990
HGNC Page HGNC
Description: Predicted to have tRNA methyltransferase activity. Predicted to be involved in tRNA methylation. Predicted to localize to cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: alpha-amino-alpha-carboxypropyl transferase TYW2; FLJ20772; homolog of yeast tRNA methyltransferase; TRM12; tRNA methyltranferase 12 homolog; tRNA methyltransferase 12 homolog (S. cerevisiae); tRNA wybutosine-synthesizing protein 2 homolog; tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase; tRNA-yW synthesizing protein 2; tRNA-yW-synthesizing protein 2; TYW2
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 Ensembl8124,450,820 - 124,462,150 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,450,820 - 124,453,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,463,061 - 125,465,267 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,532,229 - 125,534,448 (+)NCBINCBI36hg18NCBI36
Celera8121,651,199 - 121,653,418 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,788,481 - 120,790,700 (+)NCBIHuRef
CHM1_18125,503,307 - 125,505,526 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:16005430   PMID:17150819   PMID:17440925   PMID:21873635   PMID:22761755   PMID:25416956   PMID:28514442  
PMID:32296183   PMID:32778592  


Genomics

Comparative Map Data
TRMT12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,450,820 - 124,462,150 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,450,820 - 124,453,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,463,061 - 125,465,267 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,532,229 - 125,534,448 (+)NCBINCBI36hg18NCBI36
Celera8121,651,199 - 121,653,418 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,788,481 - 120,790,700 (+)NCBIHuRef
CHM1_18125,503,307 - 125,505,526 (+)NCBICHM1_1
Trmt12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,744,498 - 58,748,630 (+)NCBIGRCm39mm39
GRCm39 Ensembl1558,744,523 - 58,748,976 (+)Ensembl
GRCm381558,872,649 - 58,876,781 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,872,674 - 58,877,127 (+)EnsemblGRCm38mm10GRCm38
MGSCv371558,704,204 - 58,708,336 (+)NCBIGRCm37mm9NCBIm37
MGSCv361558,702,757 - 58,706,861 (+)NCBImm8
Celera1560,401,788 - 60,406,135 (+)NCBICelera
Cytogenetic Map15D1NCBI
Trmt12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,417,846 - 90,419,472 (+)NCBI
Rnor_6.0 Ensembl798,748,547 - 98,750,171 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,748,547 - 98,750,173 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0799,348,971 - 99,350,597 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,628,301 - 95,629,927 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1795,662,390 - 95,664,147 (+)NCBI
Celera787,183,178 - 87,184,804 (+)NCBICelera
Cytogenetic Map7q33NCBI
Trmt12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555403,121,570 - 3,124,371 (+)NCBIChiLan1.0ChiLan1.0
TRMT12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,888,217 - 123,890,475 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08121,134,925 - 121,136,998 (+)NCBIMhudiblu_PPA_v0panPan3
TRMT12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,494,866 - 22,570,622 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,543,543 - 22,572,308 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,460,572 - 22,514,267 (+)NCBI
ROS_Cfam_1.01322,837,146 - 22,890,667 (+)NCBI
UMICH_Zoey_3.11322,557,110 - 22,611,014 (+)NCBI
UNSW_CanFamBas_1.01322,667,375 - 22,720,839 (+)NCBI
UU_Cfam_GSD_1.01322,909,940 - 22,963,675 (+)NCBI
Trmt12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,754,848 - 15,758,772 (-)NCBI
SpeTri2.0NW_00493647023,183,138 - 23,184,856 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRMT12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,154,331 - 15,263,306 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,158,866 - 15,197,143 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,556,083 - 15,590,813 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRMT12
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,017,815 - 119,020,472 (+)NCBI
ChlSab1.1 Ensembl8119,018,216 - 119,019,562 (+)Ensembl
Trmt12
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473530,739,223 - 30,740,991 (-)NCBI

Position Markers
D8S1919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,464,920 - 125,465,061UniSTSGRCh37
Build 368125,534,101 - 125,534,242RGDNCBI36
Celera8121,653,071 - 121,653,212RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,790,353 - 120,790,494UniSTS
GeneMap99-G3 RH Map83900.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:834
Count of miRNA genes:473
Interacting mature miRNAs:517
Transcripts:ENST00000328599, ENST00000521443, ENST00000522518
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 530 471 739 88 804 77 1355 329 669 233 898 1044 25 343 708 3
Low 1900 2491 985 534 1127 386 3002 1855 3061 185 559 569 150 1 861 2080 2 2
Below cutoff 9 29 2 2 17 2 13 4 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328599   ⟹   ENSP00000329858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,450,820 - 124,453,026 (+)Ensembl
RefSeq Acc Id: ENST00000521443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,450,820 - 124,462,150 (+)Ensembl
RefSeq Acc Id: ENST00000522518   ⟹   ENSP00000429771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,450,917 - 124,452,741 (+)Ensembl
RefSeq Acc Id: NM_017956   ⟹   NP_060426
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,450,820 - 124,453,026 (+)NCBI
GRCh378125,463,048 - 125,465,267 (+)RGD
Build 368125,532,229 - 125,534,448 (+)NCBI Archive
Celera8121,651,199 - 121,653,418 (+)RGD
HuRef8120,788,481 - 120,790,700 (+)RGD
CHM1_18125,503,307 - 125,505,526 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060426   ⟸   NM_017956
- UniProtKB: Q53H54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000429771   ⟸   ENST00000522518
RefSeq Acc Id: ENSP00000329858   ⟸   ENST00000328599


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
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 8q24.13(chr8:124377953-124575712)x1 copy number loss See cases [RCV000052791] Chr8:124377953..124575712 [GRCh38]
Chr8:125390194..125587953 [GRCh37]
Chr8:125459375..125657134 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
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 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 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-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 8q24.13(chr8:125435877-125464856)x3 copy number gain See cases [RCV000446954] Chr8:125435877..125464856 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
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 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
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
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
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(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3 copy number gain not provided [RCV000848433] Chr8:125310755..125983817 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26091 AgrOrtholog
COSMIC TRMT12 COSMIC
Ensembl Genes ENSG00000183665 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000329858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429771 UniProtKB/TrEMBL
Ensembl Transcript ENST00000328599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522518 UniProtKB/TrEMBL
GTEx ENSG00000183665 GTEx
HGNC ID HGNC:26091 ENTREZGENE
Human Proteome Map TRMT12 Human Proteome Map
InterPro MeTrfase_TRM5/TYW2 UniProtKB/Swiss-Prot
  SAM-dependent_MTases UniProtKB/Swiss-Prot
KEGG Report hsa:55039 UniProtKB/Swiss-Prot
NCBI Gene 55039 ENTREZGENE
OMIM 611244 OMIM
Pfam Met_10 UniProtKB/Swiss-Prot
PharmGKB PA142670700 PharmGKB
PROSITE SAM_MT_TRM5_TYW2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt E5RHH6_HUMAN UniProtKB/TrEMBL
  Q53H54 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6PKB9 UniProtKB/Swiss-Prot
  Q96F21 UniProtKB/Swiss-Prot
  Q9NWK6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 TRMT12  tRNA methyltransferase 12 homolog    tRNA methyltransferase 12 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-09-01 TRMT12  tRNA methyltransferase 12 homolog (S. cerevisiae)  TRMT12  tRNA methyltransferase 12 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED