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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GATB | Human | combined oxidative phosphorylation deficiency 41 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GATB | Human | combined oxidative phosphorylation deficiency 41 | | IAGP | | 7240710 | | OMIM | | |
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# | 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 |
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 |
GATB (Homo sapiens - human) |
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Gatb (Mus musculus - house mouse) |
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Gatb (Rattus norvegicus - Norway rat) |
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Gatb (Chinchilla lanigera - long-tailed chinchilla) |
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GATB (Pan paniscus - bonobo/pygmy chimpanzee) |
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GATB (Canis lupus familiaris - dog) |
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Gatb (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GATB (Sus scrofa - pig) |
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GATB (Chlorocebus sabaeus - green monkey) |
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Gatb (Heterocephalus glaber - naked mole-rat) |
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Variants in GATB
85 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH92902 |
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G54054 |
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RH118426 |
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G24097 |
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PET112L_8531 |
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SHGC-59699 |
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SHGC-36970 |
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SHGC-34696 |
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SHGC-50453 |
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MARC_8163-8164:996688339:1 |
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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
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musculoskeletal system
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nervous system
|
renal system
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reproductive system
|
respiratory system
|
sensory system
|
visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2432 | 2788 | 2249 | 4965 | 1723 | 2346 | 5 | 622 | 1948 | 464 | 2269 | 7289 | 6461 | 52 | 3727 | 849 | 1735 | 1612 | 175 | 1 |
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: |
|
Ensembl Acc Id: | ENST00000503160 ⟹ ENSP00000421005 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000505211 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000507592 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000508611 ⟹ ENSP00000421105 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000510396 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000510720 ⟹ ENSP00000425294 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000511538 ⟹ ENSP00000421240 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000512306 ⟹ ENSP00000420831 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000513504 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000515490 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000515564 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000515812 ⟹ ENSP00000426859 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000515884 ⟹ ENSP00000423999 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001363341 ⟹ NP_001350270 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_004564 ⟹ NP_004555 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
Protein RefSeqs | NP_001350270 | (Get FASTA) | NCBI Sequence Viewer |
NP_004555 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD08640 | (Get FASTA) | NCBI Sequence Viewer |
AAF36119 | (Get FASTA) | NCBI Sequence Viewer | |
AAI30349 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36548 | (Get FASTA) | NCBI Sequence Viewer | |
AAY40897 | (Get FASTA) | NCBI Sequence Viewer | |
BAD96607 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35796 | (Get FASTA) | NCBI Sequence Viewer | |
BAG64504 | (Get FASTA) | NCBI Sequence Viewer | |
CAH56162 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04981 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04982 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04983 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000263985 | ||
ENSP00000263985.6 | |||
ENSP00000420831.1 | |||
ENSP00000421005.1 | |||
ENSP00000421105.1 | |||
ENSP00000421240.1 | |||
ENSP00000423999.1 | |||
ENSP00000425294.1 | |||
ENSP00000426859.1 | |||
GenBank Protein | O75879 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O75879-F1-model_v2 | AlphaFold | O75879 | 1-557 | view protein structure |
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: |
|
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: |
|
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: |
|
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: |
|
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 |
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 |