GATB (glutamyl-tRNA amidotransferase subunit B) - Rat Genome Database

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Gene: GATB (glutamyl-tRNA amidotransferase subunit B) Homo sapiens
Analyze
Symbol: GATB
Name: glutamyl-tRNA amidotransferase subunit B
RGD ID: 1317305
HGNC Page HGNC:8849
Description: Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 41.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: COXPD41; cytochrome c oxidase assembly factor PET112 homolog; cytochrome oxidase assembly factor PET112 homolog; glu-ADT subunit B; glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial; glutamyl-tRNA(Gln) amidotransferase, subunit B; HSPC199; PET112; PET112 homolog; PET112L; probable glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial
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
GRCh384151,670,504 - 151,761,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4151,670,504 - 151,761,007 (-)EnsemblGRCh38hg38GRCh38
GRCh374152,591,656 - 152,682,159 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364152,811,451 - 152,901,596 (-)NCBINCBI36Build 36hg18NCBI36
Build 344152,949,605 - 153,039,751NCBI
Celera4149,915,711 - 150,006,079 (-)NCBICelera
Cytogenetic Map4q31.3NCBI
HuRef4148,317,316 - 148,407,773 (-)NCBIHuRef
CHM1_14152,569,828 - 152,660,194 (-)NCBICHM1_1
T2T-CHM13v2.04154,993,606 - 155,084,109 (-)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
glutamyl-tRNA(Gln) amidotransferase complex  (IBA,IDA,IEA,IPI)
mitochondrion  (HTP,IBA,IDA,IEA,IMP)

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:8125298   PMID:9878253   PMID:11042152   PMID:12477932   PMID:12665801   PMID:15342556   PMID:17903297   PMID:18029348   PMID:19805282   PMID:20877624   PMID:21873635   PMID:26058080  
PMID:26186194   PMID:28514442   PMID:29568061   PMID:30033366   PMID:30283131   PMID:31056398   PMID:31617661   PMID:31871319   PMID:32457219   PMID:32628020   PMID:32877691   PMID:32994395  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34800366   PMID:35013556   PMID:35575683   PMID:36215168   PMID:37314216   PMID:37866880  


Genomics

Comparative Map Data
GATB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384151,670,504 - 151,761,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4151,670,504 - 151,761,007 (-)EnsemblGRCh38hg38GRCh38
GRCh374152,591,656 - 152,682,159 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364152,811,451 - 152,901,596 (-)NCBINCBI36Build 36hg18NCBI36
Build 344152,949,605 - 153,039,751NCBI
Celera4149,915,711 - 150,006,079 (-)NCBICelera
Cytogenetic Map4q31.3NCBI
HuRef4148,317,316 - 148,407,773 (-)NCBIHuRef
CHM1_14152,569,828 - 152,660,194 (-)NCBICHM1_1
T2T-CHM13v2.04154,993,606 - 155,084,109 (-)NCBIT2T-CHM13v2.0
Gatb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39385,481,409 - 85,562,945 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl385,481,426 - 85,562,929 (+)EnsemblGRCm39 Ensembl
GRCm38385,574,102 - 85,655,624 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl385,574,119 - 85,655,622 (+)EnsemblGRCm38mm10GRCm38
MGSCv37385,378,051 - 85,458,392 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36385,660,056 - 85,740,397 (+)NCBIMGSCv36mm8
Celera385,599,682 - 85,675,540 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map337.83NCBI
Gatb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82173,228,562 - 173,315,144 (+)NCBIGRCr8
mRatBN7.22170,930,547 - 171,017,133 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2170,930,542 - 171,016,695 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2178,096,871 - 178,167,886 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02176,116,813 - 176,187,822 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02170,718,343 - 170,789,356 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02184,600,695 - 184,679,980 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2184,600,721 - 184,679,683 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02203,993,388 - 204,077,577 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.12177,358,205 - 177,383,899 (+)NCBI
Celera2164,917,651 - 164,995,438 (+)NCBICelera
Cytogenetic Map2q34NCBI
Gatb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554716,230,027 - 6,313,706 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554716,230,027 - 6,313,655 (-)NCBIChiLan1.0ChiLan1.0
GATB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23149,550,825 - 149,641,078 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14149,907,909 - 149,998,204 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04144,005,127 - 144,095,552 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14155,657,600 - 155,747,679 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4155,657,600 - 155,747,679 (-)Ensemblpanpan1.1panPan2
GATB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11549,602,453 - 49,698,593 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1549,603,559 - 49,698,535 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1549,950,070 - 50,039,302 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01550,282,357 - 50,378,743 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1550,257,912 - 50,378,715 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11549,550,200 - 49,640,242 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01549,651,594 - 49,741,574 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01549,962,228 - 50,052,683 (-)NCBIUU_Cfam_GSD_1.0
Gatb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530140,805,422 - 40,884,572 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366891,646,839 - 1,725,853 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366891,646,839 - 1,725,799 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GATB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl877,169,566 - 77,323,859 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1877,222,457 - 77,323,720 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2881,844,227 - 81,898,796 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GATB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1798,245,646 - 98,331,083 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl798,245,968 - 98,331,082 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603777,856,942 - 77,943,680 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gatb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248583,121,443 - 3,208,904 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248583,121,443 - 3,208,853 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GATB
85 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004564.3(GATB):c.1546-5_1546-3del deletion Combined oxidative phosphorylation deficiency 41 [RCV001449957] Chr4:151671305..151671307 [GRCh38]
Chr4:152592457..152592459 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3 copy number gain See cases [RCV000051787] Chr4:140876253..152186578 [GRCh38]
Chr4:141797407..153107730 [GRCh37]
Chr4:142016857..153327180 [NCBI36]
Chr4:4q31.21-31.3
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_004564.3(GATB):c.580_581del (p.Ser194fs) deletion Cardiomyopathy, mitochondrial [RCV000684828]|Combined oxidative phosphorylation deficiency 41 [RCV001035445] Chr4:151716935..151716936 [GRCh38]
Chr4:152638087..152638088 [GRCh37]
Chr4:4q31.3
pathogenic
NM_004564.3(GATB):c.408T>G (p.Phe136Leu) single nucleotide variant Cardiomyopathy, mitochondrial [RCV000684829]|Combined oxidative phosphorylation deficiency 41 [RCV001035447] Chr4:151719458 [GRCh38]
Chr4:152640610 [GRCh37]
Chr4:4q31.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_004564.3(GATB):c.696G>A (p.Ala232=) single nucleotide variant GATB-related disorder [RCV003941074]|not provided [RCV001678712] Chr4:151716076 [GRCh38]
Chr4:152637228 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1332-103A>C single nucleotide variant not provided [RCV001541833] Chr4:151679994 [GRCh38]
Chr4:152601146 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.327+202T>C single nucleotide variant not provided [RCV001611320] Chr4:151758570 [GRCh38]
Chr4:152679722 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1007+31T>C single nucleotide variant not provided [RCV001666558] Chr4:151703820 [GRCh38]
Chr4:152624972 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1331+82T>G single nucleotide variant not provided [RCV001644452] Chr4:151688548 [GRCh38]
Chr4:152609700 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1145A>G (p.Glu382Gly) single nucleotide variant GATB-related disorder [RCV003910419]|not provided [RCV000883175] Chr4:151701381 [GRCh38]
Chr4:152622533 [GRCh37]
Chr4:4q31.3
benign
GRCh37/hg19 4q31.3(chr4:152404272-152599721)x1 copy number loss not provided [RCV001005605] Chr4:152404272..152599721 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
NM_004564.3(GATB):c.963-201dup duplication not provided [RCV001610150] Chr4:151704080..151704081 [GRCh38]
Chr4:152625232..152625233 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.89C>A (p.Ala30Asp) single nucleotide variant GATB-related disorder [RCV003968481]|not provided [RCV001695155] Chr4:151760894 [GRCh38]
Chr4:152682046 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.878-95del deletion not provided [RCV001671482] Chr4:151705364 [GRCh38]
Chr4:152626516 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.176+7T>C single nucleotide variant Combined oxidative phosphorylation deficiency 41 [RCV001788770]|GATB-related disorder [RCV003975956]|not provided [RCV001686944] Chr4:151760800 [GRCh38]
Chr4:152681952 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.*135A>G single nucleotide variant not provided [RCV001671416] Chr4:151671039 [GRCh38]
Chr4:152592191 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1329G>A (p.Glu443=) single nucleotide variant GATB-related disorder [RCV003931289]|not provided [RCV001708989] Chr4:151688632 [GRCh38]
Chr4:152609784 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1331+226G>T single nucleotide variant not provided [RCV001638363] Chr4:151688404 [GRCh38]
Chr4:152609556 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1546-23GTAA[3] microsatellite not provided [RCV001673452] Chr4:151671317..151671318 [GRCh38]
Chr4:152592469..152592470 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1198-6del deletion Combined oxidative phosphorylation deficiency 41 [RCV001788707]|GATB-related disorder [RCV003975822]|not provided [RCV001658604] Chr4:151688769 [GRCh38]
Chr4:152609921 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.441+190G>A single nucleotide variant not provided [RCV001637946] Chr4:151719235 [GRCh38]
Chr4:152640387 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.327+108T>C single nucleotide variant not provided [RCV001656775] Chr4:151758664 [GRCh38]
Chr4:152679816 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.963-186del deletion not provided [RCV001539544] Chr4:151704081 [GRCh38]
Chr4:152625233 [GRCh37]
Chr4:4q31.3
benign
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
NM_004564.3(GATB):c.1331+88T>C single nucleotide variant not provided [RCV001536796] Chr4:151688542 [GRCh38]
Chr4:152609694 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.877+1G>A single nucleotide variant Combined oxidative phosphorylation deficiency 41 [RCV001449956] Chr4:151707987 [GRCh38]
Chr4:152629139 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1198-84_1198-83insT insertion not provided [RCV001684885] Chr4:151688846..151688847 [GRCh38]
Chr4:152609998..152609999 [GRCh37]
Chr4:4q31.3
benign
NC_000004.12:g.151761245G>A single nucleotide variant not provided [RCV001618821] Chr4:151761245 [GRCh38]
Chr4:152682397 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1198-202A>G single nucleotide variant not provided [RCV001708914] Chr4:151688965 [GRCh38]
Chr4:152610117 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.186A>T (p.Lys62Asn) single nucleotide variant not provided [RCV002293114] Chr4:151758913 [GRCh38]
Chr4:152680065 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1065C>T (p.Pro355=) single nucleotide variant not provided [RCV002263363] Chr4:151701461 [GRCh38]
Chr4:152622613 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1654G>A (p.Glu552Lys) single nucleotide variant not specified [RCV004129855] Chr4:151671194 [GRCh38]
Chr4:152592346 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1479A>T (p.Glu493Asp) single nucleotide variant not specified [RCV004233931] Chr4:151672828 [GRCh38]
Chr4:152593980 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.941G>A (p.Arg314His) single nucleotide variant not specified [RCV004124488] Chr4:151705206 [GRCh38]
Chr4:152626358 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1121C>T (p.Pro374Leu) single nucleotide variant not specified [RCV004076359] Chr4:151701405 [GRCh38]
Chr4:152622557 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.64G>C (p.Gly22Arg) single nucleotide variant not specified [RCV004138768] Chr4:151760919 [GRCh38]
Chr4:152682071 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1160A>T (p.Gln387Leu) single nucleotide variant not specified [RCV004216129] Chr4:151701366 [GRCh38]
Chr4:152622518 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.622A>G (p.Ile208Val) single nucleotide variant not specified [RCV004139019] Chr4:151716894 [GRCh38]
Chr4:152638046 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.28T>C (p.Cys10Arg) single nucleotide variant not specified [RCV004224460] Chr4:151760955 [GRCh38]
Chr4:152682107 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.25G>T (p.Gly9Cys) single nucleotide variant not specified [RCV004211652] Chr4:151760958 [GRCh38]
Chr4:152682110 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.545C>T (p.Thr182Met) single nucleotide variant not specified [RCV004215522] Chr4:151716971 [GRCh38]
Chr4:152638123 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1506G>T (p.Glu502Asp) single nucleotide variant not specified [RCV004140728] Chr4:151672801 [GRCh38]
Chr4:152593953 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1066G>A (p.Ala356Thr) single nucleotide variant not specified [RCV004187799] Chr4:151701460 [GRCh38]
Chr4:152622612 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.14T>C (p.Met5Thr) single nucleotide variant not specified [RCV004155078] Chr4:151760969 [GRCh38]
Chr4:152682121 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.262C>T (p.Arg88Cys) single nucleotide variant not specified [RCV004151918] Chr4:151758837 [GRCh38]
Chr4:152679989 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.688G>A (p.Glu230Lys) single nucleotide variant not specified [RCV004138103] Chr4:151716084 [GRCh38]
Chr4:152637236 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.498A>G (p.Ile166Met) single nucleotide variant not specified [RCV004194036] Chr4:151717018 [GRCh38]
Chr4:152638170 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.191C>T (p.Ala64Val) single nucleotide variant not specified [RCV004086044] Chr4:151758908 [GRCh38]
Chr4:152680060 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.827G>A (p.Arg276Gln) single nucleotide variant not specified [RCV004086378] Chr4:151708038 [GRCh38]
Chr4:152629190 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.58G>A (p.Val20Ile) single nucleotide variant not specified [RCV004086477] Chr4:151760925 [GRCh38]
Chr4:152682077 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1038G>C (p.Leu346=) single nucleotide variant not provided [RCV003223171] Chr4:151701488 [GRCh38]
Chr4:152622640 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.342G>T (p.Arg114Ser) single nucleotide variant not specified [RCV004280400] Chr4:151719524 [GRCh38]
Chr4:152640676 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.532G>A (p.Val178Met) single nucleotide variant not specified [RCV004276278] Chr4:151716984 [GRCh38]
Chr4:152638136 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.275C>T (p.Pro92Leu) single nucleotide variant not specified [RCV004248692] Chr4:151758824 [GRCh38]
Chr4:152679976 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1351C>T (p.Leu451Phe) single nucleotide variant not specified [RCV004265181] Chr4:151679872 [GRCh38]
Chr4:152601024 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.512C>T (p.Ala171Val) single nucleotide variant not specified [RCV004323246] Chr4:151717004 [GRCh38]
Chr4:152638156 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1198-6dup duplication GATB-related disorder [RCV003919054]|not provided [RCV003327146] Chr4:151688768..151688769 [GRCh38]
Chr4:152609920..152609921 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_004564.3(GATB):c.1026C>G (p.Asn342Lys) single nucleotide variant not specified [RCV004359119] Chr4:151701500 [GRCh38]
Chr4:152622652 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1591_1594dup (p.Gly532fs) duplication GATB-related disorder [RCV003418820] Chr4:151671253..151671254 [GRCh38]
Chr4:152592405..152592406 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.32G>A (p.Arg11His) single nucleotide variant not specified [RCV004359384] Chr4:151760951 [GRCh38]
Chr4:152682103 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1604G>A (p.Arg535Gln) single nucleotide variant not specified [RCV004337482] Chr4:151671244 [GRCh38]
Chr4:152592396 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.707T>A (p.Val236Asp) single nucleotide variant not specified [RCV004362973] Chr4:151716065 [GRCh38]
Chr4:152637217 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1163A>C (p.Tyr388Ser) single nucleotide variant not specified [RCV004346465] Chr4:151701363 [GRCh38]
Chr4:152622515 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4q31.3(chr4:152578956-152939694)x3 copy number gain not provided [RCV003484208] Chr4:152578956..152939694 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3
pathogenic
NM_004564.3(GATB):c.1050C>A (p.Asp350Glu) single nucleotide variant not provided [RCV003439514] Chr4:151701476 [GRCh38]
Chr4:152622628 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.718C>T (p.Gln240Ter) single nucleotide variant not provided [RCV003439515] Chr4:151716054 [GRCh38]
Chr4:152637206 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV003435183]|not specified [RCV004634259] Chr4:151708042 [GRCh38]
Chr4:152629194 [GRCh37]
Chr4:4q31.3
likely benign|uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2
pathogenic
NM_004564.3(GATB):c.796G>A (p.Val266Met) single nucleotide variant GATB-related disorder [RCV003914176] Chr4:151708069 [GRCh38]
Chr4:152629221 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1050C>T (p.Asp350=) single nucleotide variant GATB-related disorder [RCV003979033] Chr4:151701476 [GRCh38]
Chr4:152622628 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.16C>G (p.Leu6Val) single nucleotide variant GATB-related disorder [RCV003946892] Chr4:151760967 [GRCh38]
Chr4:152682119 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.287T>C (p.Leu96Ser) single nucleotide variant GATB-related disorder [RCV003934666] Chr4:151758812 [GRCh38]
Chr4:152679964 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1287T>G (p.Thr429=) single nucleotide variant GATB-related disorder [RCV003972295] Chr4:151688674 [GRCh38]
Chr4:152609826 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.515G>T (p.Gly172Val) single nucleotide variant GATB-related disorder [RCV003949285] Chr4:151717001 [GRCh38]
Chr4:152638153 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.695C>T (p.Ala232Val) single nucleotide variant GATB-related disorder [RCV003914425] Chr4:151716077 [GRCh38]
Chr4:152637229 [GRCh37]
Chr4:4q31.3
likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_004564.3(GATB):c.1198-7_1198-6del deletion GATB-related disorder [RCV003976733] Chr4:151688769..151688770 [GRCh38]
Chr4:152609921..152609922 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.137C>T (p.Ala46Val) single nucleotide variant GATB-related disorder [RCV003964389] Chr4:151760846 [GRCh38]
Chr4:152681998 [GRCh37]
Chr4:4q31.3
benign
NM_004564.3(GATB):c.1603C>T (p.Arg535Trp) single nucleotide variant not provided [RCV003885850] Chr4:151671245 [GRCh38]
Chr4:152592397 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.99G>A (p.Gly33=) single nucleotide variant GATB-related disorder [RCV003981404] Chr4:151760884 [GRCh38]
Chr4:152682036 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.1152T>C (p.Leu384=) single nucleotide variant not provided [RCV003886296] Chr4:151701374 [GRCh38]
Chr4:152622526 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.149T>C (p.Leu50Pro) single nucleotide variant not specified [RCV004395141] Chr4:151760834 [GRCh38]
Chr4:152681986 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.202G>A (p.Gly68Ser) single nucleotide variant not specified [RCV004395145] Chr4:151758897 [GRCh38]
Chr4:152680049 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.4G>A (p.Ala2Thr) single nucleotide variant not specified [RCV004395151] Chr4:151760979 [GRCh38]
Chr4:152682131 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.326C>T (p.Pro109Leu) single nucleotide variant not specified [RCV004395149] Chr4:151758773 [GRCh38]
Chr4:152679925 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1622G>C (p.Arg541Pro) single nucleotide variant not specified [RCV004395143] Chr4:151671226 [GRCh38]
Chr4:152592378 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.310C>G (p.Leu104Val) single nucleotide variant not specified [RCV004395148] Chr4:151758789 [GRCh38]
Chr4:152679941 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.788A>G (p.Asn263Ser) single nucleotide variant not specified [RCV004395153] Chr4:151708077 [GRCh38]
Chr4:152629229 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1622G>A (p.Arg541Gln) single nucleotide variant not specified [RCV004395142] Chr4:151671226 [GRCh38]
Chr4:152592378 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.196G>A (p.Val66Met) single nucleotide variant not specified [RCV004395144] Chr4:151758903 [GRCh38]
Chr4:152680055 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.424T>G (p.Phe142Val) single nucleotide variant not specified [RCV004395150] Chr4:151719442 [GRCh38]
Chr4:152640594 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.536T>A (p.Ile179Asn) single nucleotide variant not specified [RCV004395152] Chr4:151716980 [GRCh38]
Chr4:152638132 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1555G>A (p.Val519Met) single nucleotide variant not specified [RCV004634605] Chr4:151671293 [GRCh38]
Chr4:152592445 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.257A>C (p.Gln86Pro) single nucleotide variant not specified [RCV004395146] Chr4:151758842 [GRCh38]
Chr4:152679994 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.26G>T (p.Gly9Val) single nucleotide variant not specified [RCV004395147] Chr4:151760957 [GRCh38]
Chr4:152682109 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.53C>T (p.Ala18Val) single nucleotide variant not specified [RCV004634606] Chr4:151760930 [GRCh38]
Chr4:152682082 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.398A>T (p.Lys133Met) single nucleotide variant not specified [RCV004634607] Chr4:151719468 [GRCh38]
Chr4:152640620 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1187T>C (p.Phe396Ser) single nucleotide variant GATB-related disorder [RCV004756683] Chr4:151701339 [GRCh38]
Chr4:152622491 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.263G>A (p.Arg88His) single nucleotide variant not specified [RCV004924491] Chr4:151758836 [GRCh38]
Chr4:152679988 [GRCh37]
Chr4:4q31.3
likely benign
NM_004564.3(GATB):c.830C>T (p.Thr277Met) single nucleotide variant not specified [RCV004924492] Chr4:151708035 [GRCh38]
Chr4:152629187 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.949C>T (p.His317Tyr) single nucleotide variant not specified [RCV004924493] Chr4:151705198 [GRCh38]
Chr4:152626350 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.700A>G (p.Thr234Ala) single nucleotide variant not specified [RCV004924494] Chr4:151716072 [GRCh38]
Chr4:152637224 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.154A>G (p.Thr52Ala) single nucleotide variant not specified [RCV004930662] Chr4:151760829 [GRCh38]
Chr4:152681981 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.19C>T (p.Arg7Cys) single nucleotide variant not specified [RCV004930663] Chr4:151760964 [GRCh38]
Chr4:152682116 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.598G>A (p.Asp200Asn) single nucleotide variant not specified [RCV004925138] Chr4:151716918 [GRCh38]
Chr4:152638070 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_004564.3(GATB):c.1096A>G (p.Ile366Val) single nucleotide variant not specified [RCV004925137] Chr4:151701430 [GRCh38]
Chr4:152622582 [GRCh37]
Chr4:4q31.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3143
Count of miRNA genes:1019
Interacting mature miRNAs:1234
Transcripts:ENST00000263985, ENST00000503160, ENST00000505211, ENST00000507592, ENST00000508611, ENST00000510396, ENST00000510720, ENST00000511538, ENST00000512306, ENST00000513504, ENST00000515490, ENST00000515564, ENST00000515812, ENST00000515884
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
597174712GWAS1270786_HTinnitus, wellbeing measurement QTL GWAS1270786 (human)0.000008wellness/fitness trait (VT:1000152)4151755198151755199Human
597057044GWAS1153118_Hintelligence QTL GWAS1153118 (human)2e-10intelligence4151685823151685824Human
597322009GWAS1418083_HBMI-adjusted hip circumference QTL GWAS1418083 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)4151749613151749614Human
597119218GWAS1215292_Hcognitive function measurement, self reported educational attainment QTL GWAS1215292 (human)1e-11cognitive function measurement, self reported educational attainment4151671781151671782Human
597168735GWAS1264809_Halkaline phosphatase measurement QTL GWAS1264809 (human)2e-08alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)4151685550151685551Human
597276017GWAS1372091_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1372091 (human)3e-14attention deficit hyperactivity disorder, autism spectrum disorder, intelligence4151685421151685422Human
597112347GWAS1208421_Hcognitive function measurement QTL GWAS1208421 (human)7e-12cognitive function measurement4151671781151671782Human
597144346GWAS1240420_Hsuicidal ideation, suicide behaviour QTL GWAS1240420 (human)9e-09suicidal ideation, suicide behaviour4151697981151697982Human
597174709GWAS1270783_HTinnitus, wellbeing measurement QTL GWAS1270783 (human)0.000005wellness/fitness trait (VT:1000152)4151719153151719154Human
597061414GWAS1157488_Hintelligence QTL GWAS1157488 (human)7e-13intelligence4151671781151671782Human
597121350GWAS1217424_Hlow density lipoprotein cholesterol measurement QTL GWAS1217424 (human)4e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)4151680799151680800Human
597116580GWAS1212654_Hself reported educational attainment QTL GWAS1212654 (human)4e-09self reported educational attainment4151683571151683572Human
597245898GWAS1341972_Hlarge artery stroke QTL GWAS1341972 (human)0.000007large artery stroke4151756428151756429Human
597030691GWAS1126765_Hself reported educational attainment QTL GWAS1126765 (human)0.0000001self reported educational attainment4151712515151712516Human
597472613GWAS1568687_Hverbal-numerical reasoning measurement QTL GWAS1568687 (human)1e-09verbal-numerical reasoning measurement4151673255151673256Human
597330624GWAS1426698_Hsleep duration QTL GWAS1426698 (human)5e-08sleep duration4151685421151685422Human
597173570GWAS1269644_HTinnitus QTL GWAS1269644 (human)0.000002Tinnitus4151719153151719154Human
597051469GWAS1147543_Hsmoking status measurement QTL GWAS1147543 (human)1e-08smoking status measurement4151712969151712970Human
597077003GWAS1173077_Hintelligence QTL GWAS1173077 (human)7e-12intelligence4151682879151682880Human
597339495GWAS1435569_Hneuroticism measurement, cognitive function measurement QTL GWAS1435569 (human)2e-14neuroticism measurement, cognitive function measurement4151685421151685422Human
407011231GWAS660207_Hintelligence QTL GWAS660207 (human)0.0000001intelligence4151686039151686040Human
597116713GWAS1212787_Hcognitive function measurement QTL GWAS1212787 (human)5e-15cognitive function measurement4151671781151671782Human

Markers in Region
RH92902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,591,768 - 152,591,910UniSTSGRCh37
Build 364152,811,218 - 152,811,360RGDNCBI36
Celera4149,915,671 - 149,915,813RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,317,276 - 148,317,418UniSTS
GeneMap99-GB4 RH Map4635.41UniSTS
G54054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,592,095 - 152,592,263UniSTSGRCh37
Build 364152,811,545 - 152,811,713RGDNCBI36
Celera4149,915,998 - 149,916,166RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,317,603 - 148,317,771UniSTS
RH118426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,621,190 - 152,621,535UniSTSGRCh37
Build 364152,840,640 - 152,840,985RGDNCBI36
Celera4149,945,094 - 149,945,439RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,346,788 - 148,347,133UniSTS
TNG Radiation Hybrid Map491148.0UniSTS
G24097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,592,051 - 152,592,176UniSTSGRCh37
Build 364152,811,501 - 152,811,626RGDNCBI36
Celera4149,915,954 - 149,916,079RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,317,559 - 148,317,684UniSTS
PET112L_8531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,591,826 - 152,592,424UniSTSGRCh37
Build 364152,811,276 - 152,811,874RGDNCBI36
Celera4149,915,729 - 149,916,327RGD
HuRef4148,317,334 - 148,317,932UniSTS
SHGC-59699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,592,041 - 152,592,188UniSTSGRCh37
Build 364152,811,491 - 152,811,638RGDNCBI36
Celera4149,915,944 - 149,916,091RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,317,549 - 148,317,696UniSTS
GeneMap99-GB4 RH Map4635.41UniSTS
NCBI RH Map41565.5UniSTS
SHGC-36970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,591,517 - 152,591,596UniSTSGRCh37
Build 364152,810,967 - 152,811,046RGDNCBI36
Celera4149,915,420 - 149,915,499RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,317,025 - 148,317,104UniSTS
GeneMap99-G3 RH Map48237.0UniSTS
SHGC-34696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,677,589 - 152,677,738UniSTSGRCh37
Build 364152,897,039 - 152,897,188RGDNCBI36
Celera4150,001,493 - 150,001,642RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,403,187 - 148,403,336UniSTS
TNG Radiation Hybrid Map491312.0UniSTS
Stanford-G3 RH Map48333.0UniSTS
GeneMap99-GB4 RH Map4638.91UniSTS
Whitehead-RH Map4684.4UniSTS
NCBI RH Map41559.9UniSTS
GeneMap99-G3 RH Map48258.0UniSTS
SHGC-50453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,591,316 - 152,591,446UniSTSGRCh37
Build 364152,810,766 - 152,810,896RGDNCBI36
Celera4149,915,219 - 149,915,349RGD
Cytogenetic Map4q31.3UniSTS
HuRef4148,316,824 - 148,316,954UniSTS
MARC_8163-8164:996688339:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374152,637,229 - 152,638,097UniSTSGRCh37
Celera4149,961,133 - 149,962,001UniSTS
HuRef4148,362,827 - 148,363,695UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2249 4965 1723 2346 5 622 1948 464 2269 7289 6461 52 3727 849 1735 1612 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB019410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP348031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263985   ⟹   ENSP00000263985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,504 - 151,761,007 (-)Ensembl
Ensembl Acc Id: ENST00000503160   ⟹   ENSP00000421005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,863 - 151,760,930 (-)Ensembl
Ensembl Acc Id: ENST00000505211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,688,737 - 151,716,244 (-)Ensembl
Ensembl Acc Id: ENST00000507592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,944 - 151,687,083 (-)Ensembl
Ensembl Acc Id: ENST00000508611   ⟹   ENSP00000421105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,721,946 - 151,760,990 (-)Ensembl
Ensembl Acc Id: ENST00000510396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,838 - 151,675,888 (-)Ensembl
Ensembl Acc Id: ENST00000510720   ⟹   ENSP00000425294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,888 - 151,701,518 (-)Ensembl
Ensembl Acc Id: ENST00000511538   ⟹   ENSP00000421240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,703,179 - 151,760,970 (-)Ensembl
Ensembl Acc Id: ENST00000512306   ⟹   ENSP00000420831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,703,342 - 151,760,985 (-)Ensembl
Ensembl Acc Id: ENST00000513504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,671,136 - 151,691,724 (-)Ensembl
Ensembl Acc Id: ENST00000515490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,705,230 - 151,717,331 (-)Ensembl
Ensembl Acc Id: ENST00000515564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,849 - 151,724,480 (-)Ensembl
Ensembl Acc Id: ENST00000515812   ⟹   ENSP00000426859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,670,849 - 151,760,999 (-)Ensembl
Ensembl Acc Id: ENST00000515884   ⟹   ENSP00000423999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4151,701,396 - 151,760,953 (-)Ensembl
RefSeq Acc Id: NM_001363341   ⟹   NP_001350270
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384151,670,504 - 151,761,007 (-)NCBI
T2T-CHM13v2.04154,993,606 - 155,084,109 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004564   ⟹   NP_004555
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384151,670,504 - 151,761,007 (-)NCBI
GRCh374152,591,808 - 152,682,175 (-)RGD
Build 364152,811,451 - 152,901,596 (-)NCBI Archive
Celera4149,915,711 - 150,006,079 (-)RGD
HuRef4148,317,316 - 148,407,773 (-)RGD
CHM1_14152,569,828 - 152,660,194 (-)NCBI
T2T-CHM13v2.04154,993,606 - 155,084,109 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004555   ⟸   NM_004564
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9P0S6 (UniProtKB/Swiss-Prot),   Q53GP4 (UniProtKB/Swiss-Prot),   Q4W5M8 (UniProtKB/Swiss-Prot),   Q9Y2B8 (UniProtKB/Swiss-Prot),   O75879 (UniProtKB/Swiss-Prot),   D6REA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350270   ⟸   NM_001363341
- Peptide Label: isoform 2 precursor
- UniProtKB: D6REA0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000421005   ⟸   ENST00000503160
Ensembl Acc Id: ENSP00000421105   ⟸   ENST00000508611
Ensembl Acc Id: ENSP00000425294   ⟸   ENST00000510720
Ensembl Acc Id: ENSP00000421240   ⟸   ENST00000511538
Ensembl Acc Id: ENSP00000420831   ⟸   ENST00000512306
Ensembl Acc Id: ENSP00000263985   ⟸   ENST00000263985
Ensembl Acc Id: ENSP00000426859   ⟸   ENST00000515812
Ensembl Acc Id: ENSP00000423999   ⟸   ENST00000515884
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75879-F1-model_v2 AlphaFold O75879 1-557 view protein structure

Promoters
RGD ID:6868666
Promoter ID:EPDNEW_H7498
Type:initiation region
Name:GATB_1
Description:glutamyl-tRNA amidotransferase subunit B
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
GRCh384151,761,007 - 151,761,067EPDNEW
RGD ID:6802520
Promoter ID:HG_KWN:49276
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003IMK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364152,813,811 - 152,814,311 (-)MPROMDB
RGD ID:6802536
Promoter ID:HG_KWN:49277
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_004564,   UC003IMM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 364152,901,346 - 152,901,846 (-)MPROMDB
RGD ID:6851546
Promoter ID:EP73574
Type:initiation region
Name:HS_PET112L
Description:PET112-like (yeast).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 364152,901,587 - 152,901,647EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8849 AgrOrtholog
COSMIC GATB COSMIC
Ensembl Genes ENSG00000059691 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263985 ENTREZGENE
  ENST00000263985.11 UniProtKB/Swiss-Prot
  ENST00000503160.5 UniProtKB/TrEMBL
  ENST00000508611.1 UniProtKB/TrEMBL
  ENST00000510720.1 UniProtKB/TrEMBL
  ENST00000511538.5 UniProtKB/TrEMBL
  ENST00000512306.5 UniProtKB/TrEMBL
  ENST00000515812.5 UniProtKB/TrEMBL
  ENST00000515884.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000059691 GTEx
HGNC ID HGNC:8849 ENTREZGENE
Human Proteome Map GATB Human Proteome Map
InterPro Apn/Gln-ADT_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asn/Gln-tRNA_amidoTrfase_suB/E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asn/Gln-tRNA_Trfase_suB/E_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asn/Gln_amidotransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asn/Gln_tRNA_amidoTrase-B-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GatB_Yqey_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gln-tRNA_amidoTrfase_suB_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gln_synth/guanido_kin_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5188 UniProtKB/Swiss-Prot
NCBI Gene 5188 ENTREZGENE
OMIM 603645 OMIM
PANTHER GLUTAMYL-TRNA(GLN) AMIDOTRANSFERASE SUBUNIT B, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11659 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GatB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GatB_Yqey UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33191 PharmGKB
PROSITE GATB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GatB_Yqey UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF89095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E0P2_HUMAN UniProtKB/TrEMBL
  D6RDU9_HUMAN UniProtKB/TrEMBL
  D6REA0 ENTREZGENE, UniProtKB/TrEMBL
  D6RGY4_HUMAN UniProtKB/TrEMBL
  GATB_HUMAN UniProtKB/Swiss-Prot
  H0Y8G7_HUMAN UniProtKB/TrEMBL
  H0Y9F2_HUMAN UniProtKB/TrEMBL
  H0Y9W6_HUMAN UniProtKB/TrEMBL
  O75879 ENTREZGENE
  Q4W5M8 ENTREZGENE
  Q53GP4 ENTREZGENE
  Q9P0S6 ENTREZGENE
  Q9Y2B8 ENTREZGENE
UniProt Secondary Q4W5M8 UniProtKB/Swiss-Prot
  Q53GP4 UniProtKB/Swiss-Prot
  Q9P0S6 UniProtKB/Swiss-Prot
  Q9Y2B8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 GATB  glutamyl-tRNA amidotransferase subunit B    glutamyl-tRNA(Gln) amidotransferase, subunit B  Symbol and/or name change 5135510 APPROVED
2014-08-06 GATB  glutamyl-tRNA(Gln) amidotransferase, subunit B  PET112  PET112 homolog (yeast)  Symbol and/or name change 5135510 APPROVED
2011-07-27 PET112  PET112 homolog (yeast)  PET112L  PET112-like (yeast)  Symbol and/or name change 5135510 APPROVED