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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:1315567 | 6480464 | Tetrachlorodibenzodioxin affects the expression of EEF1AKMT1 mRNA | CTD | PMID:21570461 | 3-isobutyl-1-methyl-7H-xanthine | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of N6AMT2 mRNA | CTD | PMID:28628672 | aflatoxin B1 | decreases methylation | EXP | | 6480464 | Aflatoxin B1 results in decreased methylation of EEF1AKMT1 intron, Aflatoxin B1 results in decreased methylation of N6AMT2 exon | CTD | PMID:30157460 | arsenous acid | multiple interactions | EXP | | 6480464 | Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to EEF1AKMT1 protein] | CTD | PMID:26598702 | atrazine | decreases expression | EXP | | 6480464 | Atrazine results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:22378314 | benzoates | decreases expression | EXP | | 6480464 | Benzoates analog results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:29472718 | bisphenol A | increases expression | ISO | RGD:1306762 | 6480464 | bisphenol A results in increased expression of EEF1AKMT1 mRNA | CTD | PMID:25181051 | bisphenol A | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of N6AMT2 mRNA | CTD | PMID:28628672 | carbon nanotube | increases expression | ISO | RGD:1315567 | 6480464 | Nanotubes, Carbon results in increased expression of EEF1AKMT1 mRNA | CTD | PMID:25554681 | cerium trichloride | decreases expression | ISO | RGD:1315567 | 6480464 | cerous chloride results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:23573234 | copper(II) sulfate | decreases expression | EXP | | 6480464 | Copper Sulfate results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:19549813 | cyclosporin A | decreases expression | EXP | | 6480464 | Cyclosporine results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:20106945, PMID:25562108 | dexamethasone | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of N6AMT2 mRNA | CTD | PMID:28628672 | diarsenic trioxide | multiple interactions | EXP | | 6480464 | Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to EEF1AKMT1 protein] | CTD | PMID:26598702 | dicrotophos | decreases expression | EXP | | 6480464 | dicrotophos results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:28302478 | dimethyl sulfoxide | affects expression | EXP | | 6480464 | Dimethyl Sulfoxide affects the expression of EEF1AKMT1 mRNA | CTD | PMID:24834073 | dioxygen | decreases expression | EXP | | 6480464 | Oxygen deficiency results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:24236059 | ethanol | increases expression | ISO | RGD:1315567 | 6480464 | Ethanol results in increased expression of N6AMT2 mRNA | CTD | PMID:30319688 | furan | increases methylation | ISO | RGD:1306762 | 6480464 | furan results in increased methylation of EEF1AKMT1 gene | CTD | PMID:22079235 | indometacin | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of N6AMT2 mRNA | CTD | PMID:28628672 | isoprenaline | decreases expression | ISO | RGD:1315567 | 6480464 | Isoproterenol results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:20003209 | paracetamol | affects expression | ISO | RGD:1315567 | 6480464 | Acetaminophen affects the expression of EEF1AKMT1 mRNA | CTD | PMID:17562736 | pirinixic acid | increases expression | ISO | RGD:1315567 | 6480464 | pirinixic acid results in increased expression of EEF1AKMT1 mRNA | CTD | PMID:23811191 | propiconazole | increases expression | ISO | RGD:1315567 | 6480464 | propiconazole results in increased expression of EEF1AKMT1 mRNA | CTD | PMID:21278054 | quercetin | decreases expression | EXP | | 6480464 | Quercetin results in decreased expression of EEF1AKMT1 mRNA | CTD | PMID:21632981 | thapsigargin | decreases expression | ISO | RGD:1315567 | 6480464 | Thapsigargin results in decreased expression of EEF1AKMT1 protein | CTD | PMID:24648495 | urethane | decreases expression | EXP | | 6480464 | Urethane results in decreased expression of N6AMT2 mRNA | CTD | PMID:28818685 | valproic acid | decreases expression | EXP | | 6480464 | Valproic Acid results in decreased expression of N6AMT2 mRNA | CTD | PMID:29154799 | |
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PubMed | 12477932 14702039 16344560 17207965 18390568 23376485 24722188 24850809 26545399 26871637 28514442 29676528 |
EEF1AKMT1 (Homo sapiens - human) |
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Eef1akmt1 (Mus musculus - house mouse) |
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Eef1akmt1 (Rattus norvegicus - Norway rat) |
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Eef1akmt1 (Chinchilla lanigera - long-tailed chinchilla) |
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EEF1AKMT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EEF1AKMT1 (Canis lupus familiaris - dog) |
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Eef1akmt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EEF1AKMT1 (Sus scrofa - pig) |
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SHGC-57777 |
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RH78188 |
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WI-12504 |
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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. |
RefSeq Transcripts | NM_001318939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_174928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017020432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK316604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL512652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL597222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX118941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC018091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA514874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ823637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY004043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001318939 ⟹ NP_001305868 | ||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
GCACACGGCGAGTCTGGGCGACTGCGCACGCGCGGCTGGTTATAAACAACTTGTGAAATGAGTGhide sequence |
RefSeq Acc Id: | NM_174928 ⟹ NP_777588 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GCACACGGCGAGTCTGGGCGACTGCGCACGCGCGGCTGGTGAGTGGCGGGTTCGGGCGCAGCTGhide sequence |
RefSeq Acc Id: | NR_134934 | ||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||
Type: | NON-CODING | ||||||||||||||
Position: |
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Sequence: |
GCACACGGCGAGTCTGGGCGACTGCGCACGCGCGGCTGGTTATAAACAACTTGTGAAATGAGTGhide sequence |
RefSeq Acc Id: | XM_017020432 ⟹ XP_016875921 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
TCTCACTCCTGTCATTCAGGCTGGAGTGCAATGGCGAGATCTCAGCTGACTGCAACCTCCATCThide sequence |
Protein RefSeqs | NP_001305868 | (Get FASTA) | NCBI Sequence Viewer |
NP_777588 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016875921 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH18091 | (Get FASTA) | NCBI Sequence Viewer |
ABK41021 | (Get FASTA) | NCBI Sequence Viewer | |
BAG38191 | (Get FASTA) | NCBI Sequence Viewer | |
CAC38544 | (Get FASTA) | NCBI Sequence Viewer | |
EAX08277 | (Get FASTA) | NCBI Sequence Viewer | |
EAX08278 | (Get FASTA) | NCBI Sequence Viewer | |
EAX08279 | (Get FASTA) | NCBI Sequence Viewer | |
EAX08280 | (Get FASTA) | NCBI Sequence Viewer | |
Q8WVE0 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_777588 ⟸ NM_174928 |
- UniProtKB: | Q8WVE0 (UniProtKB/Swiss-Prot), A0A024RDN3 (UniProtKB/TrEMBL) |
- Sequence: |
MSDLEDDETPQLSAHALAALQEFYAEQKQQIEPGEDDKYNIGIIEENWQLSQFWYSQETALQLAhide sequence |
RefSeq Acc Id: | NP_001305868 ⟸ NM_001318939 |
- UniProtKB: | Q8WVE0 (UniProtKB/Swiss-Prot), A0A024RDN3 (UniProtKB/TrEMBL), B2RE94 (UniProtKB/TrEMBL) |
- Sequence: |
MSDLEDDETPQLSAHALAALQEFYAEQKQQIEPGEDDKYNIGIIEENWQLSQFWYSQETALQLAhide sequence |
RefSeq Acc Id: | XP_016875921 ⟸ XM_017020432 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8WVE0 (UniProtKB/Swiss-Prot), A0A024RDN3 (UniProtKB/TrEMBL) |
- Sequence: |
MSDLEDDETPQLSAHALAALQEFYAEQKQQIEPGEDDKYNIGIIEENWQLSQFWYSQETALQLAhide sequence |
RGD ID: | 6791070 | |||||||||
Promoter ID: | HG_KWN:17213 | |||||||||
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: | OTTHUMT00000044082, OTTHUMT00000044084, OTTHUMT00000044085, UC001UNP.2, UC009ZZR.1 | |||||||||
Position: |
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RGD ID: | 7225979 | |||||||||
Promoter ID: | EPDNEW_H18735 | |||||||||
Type: | initiation region | |||||||||
Name: | EEF1AKMT1_2 | |||||||||
Description: | EEF1A lysine methyltransferase 1 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|See cases [RCV000051347] | Chr13:19837195..22574567 [GRCh38] Chr13:20411335..23148706 [GRCh37] Chr13:19309335..22046706 [NCBI36] Chr13:13q12.11 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1 | copy number loss | Global developmental delay [RCV000051348]|See cases [RCV000051348] | Chr13:20026650..21967789 [GRCh38] Chr13:20600790..22541928 [GRCh37] Chr13:19498790..21439928 [NCBI36] Chr13:13q12.11 |
pathogenic |
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] | Chr13:19837395..24884509 [GRCh38] Chr13:20411535..25458647 [GRCh37] Chr13:19309535..24356647 [NCBI36] Chr13:13q12.11-12.12 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 | copy number gain | Bilateral cleft palate [RCV000053729]|See cases [RCV000053729] | Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|See cases [RCV000053733] | Chr13:19837395..22904755 [GRCh38] Chr13:20411535..23478894 [GRCh37] Chr13:19309535..22376894 [NCBI36] Chr13:13q12.11-12.12 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 | copy number gain | Intellectual functioning disability [RCV000053721]|See cases [RCV000053721] | Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | Premature Birth [RCV000053723]|See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1 | copy number loss | See cases [RCV000134754] | Chr13:19885283..22014498 [GRCh38] Chr13:20459423..22588637 [GRCh37] Chr13:19357423..21486637 [NCBI36] Chr13:13q12.11 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 | copy number loss | See cases [RCV000137093] | Chr13:19837395..21967789 [GRCh38] Chr13:20411535..22541928 [GRCh37] Chr13:19309535..21439928 [NCBI36] Chr13:13q12.11 |
uncertain significance |
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 | copy number gain | See cases [RCV000137892] | Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3 | copy number gain | See cases [RCV000141229] | Chr13:20234405..20796089 [GRCh38] Chr13:20808544..21370228 [GRCh37] Chr13:19706544..20268228 [NCBI36] Chr13:13q12.11 |
uncertain significance |
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 | copy number gain | See cases [RCV000141867] | Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3 | copy number gain | See cases [RCV000142006] | Chr13:18862146..22489174 [GRCh38] Chr13:19436286..23063313 [GRCh37] Chr13:18334286..21961313 [NCBI36] Chr13:13q11-12.11 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1 | copy number loss | See cases [RCV000143091] | Chr13:20344898..21521293 [GRCh38] Chr13:20919037..22095432 [GRCh37] Chr13:19817037..20993432 [NCBI36] Chr13:13q12.11 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 | copy number loss | See cases [RCV000143197] | Chr13:19671934..24985872 [GRCh38] Chr13:20246074..25560010 [GRCh37] Chr13:19144074..24458010 [NCBI36] Chr13:13q12.11-12.13 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20523271-21972234)x1 | copy number loss | See cases [RCV000447580] | Chr13:20523271..21972234 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 | copy number loss | not provided [RCV000683564] | Chr13:20008480..25534121 [GRCh37] Chr13:13q12.11-12.13 |
pathogenic |
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 | copy number gain | not provided [RCV000683572] | Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1 | copy number loss | not provided [RCV000683544] | Chr13:20605484..21759494 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:19540031-22849981) | copy number loss | not provided [RCV000767820] | Chr13:19540031..22849981 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NC_000013.10:g.(?_20716100)_(21398980_?)dup | duplication | Deafness, autosomal recessive 1A [RCV000813338] | Chr13:20141961..20824841 [GRCh38] Chr13:20716100..21398980 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1 | copy number loss | not provided [RCV000846015] | Chr13:19436286..23274540 [GRCh37] Chr13:13q11-12.11 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1 | copy number loss | not provided [RCV000847185] | Chr13:20562171..22993375 [GRCh37] Chr13:13q12.11 |
pathogenic |
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 | copy number gain | not provided [RCV000847640] | Chr13:20069228..27474401 [GRCh37] Chr13:13q12.11-12.13 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:27351 | AgrOrtholog |
COSMIC | EEF1AKMT1 | COSMIC |
Ensembl Genes | ENSG00000150456 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000372202 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000372206 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000382754 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000382758 | ENTREZGENE, UniProtKB/Swiss-Prot | |
GTEx | ENSG00000150456 | GTEx |
HGNC ID | HGNC:27351 | ENTREZGENE |
Human Proteome Map | EEF1AKMT1 | Human Proteome Map |
InterPro | DNA_methylase_N6_adenine_CS | UniProtKB/Swiss-Prot |
Efm5/EEF1AKMT1 | UniProtKB/Swiss-Prot | |
Mlase_EEF1AKMT1/ZCCHC4 | UniProtKB/Swiss-Prot | |
SAM-dependent_MTases | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:221143 | UniProtKB/Swiss-Prot |
NCBI Gene | 221143 | ENTREZGENE |
OMIM | 617793 | OMIM |
PANTHER | PTHR13200 | UniProtKB/Swiss-Prot |
Pfam | N6-adenineMlase | UniProtKB/Swiss-Prot |
PharmGKB | PA162396671 | PharmGKB |
PROSITE | N6_MTASE | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53335 | UniProtKB/Swiss-Prot |
UniGene | Hs.26674 | ENTREZGENE |
UniProt | A0A024RDN3 | ENTREZGENE, UniProtKB/TrEMBL |
B2RE94 | ENTREZGENE, UniProtKB/TrEMBL | |
EFMT1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | B5G4V1 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-02-28 | EEF1AKMT1 | EEF1A lysine methyltransferase 1 | eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1 | Symbol and/or name change | 5135510 | APPROVED | |
2016-01-19 | EEF1AKMT1 | eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1 | N6AMT2 | N-6 adenine-specific DNA methyltransferase 2 (putative) | Symbol and/or name change | 5135510 | APPROVED |
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More on EEF1AKMT1 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1606676 |
Created: | 2007-04-29 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.