EEF2KMT (eukaryotic elongation factor 2 lysine methyltransferase) - Rat Genome Database

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Gene: EEF2KMT (eukaryotic elongation factor 2 lysine methyltransferase) Homo sapiens
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Symbol: EEF2KMT
Name: eukaryotic elongation factor 2 lysine methyltransferase
RGD ID: 1603258
HGNC Page HGNC:32221
Description: Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in cytoplasm. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: eEF2-KMT; eEF2-lysine methyltransferase; EFM3; FAM86A; family with sequence similarity 86, member A; hypothetical protein LOC196483; MGC19636; protein-lysine N-methyltransferase EEF2KMT; putative protein N-methyltransferase FAM86A; SB153
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FAM86B3P   FAM86C2P   FAM86EP   FAM86FP   FAM86GP   FAM86HP   FAM86JP   FAM86KP   FAM86LP   FAM86MP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,084,284 - 5,097,795 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl165,084,284 - 5,097,795 (-)EnsemblGRCh38hg38GRCh38
GRCh37165,134,285 - 5,147,796 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,075,236 - 5,087,782 (-)NCBINCBI36Build 36hg18NCBI36
Celera165,343,693 - 5,357,187 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef165,100,367 - 5,113,916 (-)NCBIHuRef
CHM1_1165,135,491 - 5,148,985 (-)NCBICHM1_1
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)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
cytoplasm  (IDA,IEA)
cytosol  (TAS)
protein-containing complex  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7829101   PMID:8889548   PMID:12477932   PMID:15489334   PMID:16189514   PMID:17207965   PMID:21873635   PMID:22589738   PMID:23349634   PMID:23514108   PMID:25231979   PMID:25416956  
PMID:26186194   PMID:28514442   PMID:31515488   PMID:32296183   PMID:33961781   PMID:37209825  


Genomics

Comparative Map Data
EEF2KMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,084,284 - 5,097,795 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl165,084,284 - 5,097,795 (-)EnsemblGRCh38hg38GRCh38
GRCh37165,134,285 - 5,147,796 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,075,236 - 5,087,782 (-)NCBINCBI36Build 36hg18NCBI36
Celera165,343,693 - 5,357,187 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef165,100,367 - 5,113,916 (-)NCBIHuRef
CHM1_1165,135,491 - 5,148,985 (-)NCBICHM1_1
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBIT2T-CHM13v2.0
Eef2kmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39165,062,019 - 5,073,820 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl165,062,016 - 5,073,847 (-)EnsemblGRCm39 Ensembl
GRCm38165,244,155 - 5,255,956 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,244,152 - 5,255,983 (-)EnsemblGRCm38mm10GRCm38
MGSCv37165,244,248 - 5,256,049 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36165,159,476 - 5,171,277 (-)NCBIMGSCv36mm8
Celera165,877,168 - 5,888,966 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.51NCBI
Eef2kmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81010,843,429 - 10,853,800 (+)NCBIGRCr8
mRatBN7.21010,336,933 - 10,349,463 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,336,974 - 10,347,039 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,043,627 - 15,053,683 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,532,428 - 14,542,490 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,201,418 - 10,211,484 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,530,302 - 10,540,428 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,530,365 - 10,540,428 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,300,149 - 9,310,577 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,450,534 - 10,460,596 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11010,450,554 - 10,460,124 (+)NCBI
Celera109,303,038 - 9,313,101 (+)NCBICelera
Cytogenetic Map10q12NCBI
Eef2kmt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544212,467,077 - 12,475,902 (+)NCBIChiLan1.0ChiLan1.0
EEF2KMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,613,290 - 5,625,864 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,403,868 - 9,416,646 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0164,009,227 - 4,014,944 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1165,172,663 - 5,277,224 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl165,173,979 - 5,191,174 (-)Ensemblpanpan1.1panPan2
EEF2KMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,353,626 - 36,370,466 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha637,744,735 - 37,763,681 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,554,792 - 36,573,955 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1636,353,667 - 36,372,607 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,244,755 - 36,263,844 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,644,889 - 36,664,041 (+)NCBIUU_Cfam_GSD_1.0
Eef2kmt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344107,111,725 - 107,120,621 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365304,957,445 - 4,984,816 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EEF2KMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1337,310,915 - 37,324,705 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,315,814 - 38,330,027 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EEF2KMT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,752,247 - 4,768,240 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606825,889,562 - 25,902,921 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eef2kmt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248242,875,590 - 2,884,687 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EEF2KMT
104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_201400.3(EEF2KMT):c.948C>T (p.Pro316=) single nucleotide variant Malignant melanoma [RCV000071156] Chr16:5085677 [GRCh38]
Chr16:5135678 [GRCh37]
Chr16:5075679 [NCBI36]
Chr16:16p13.3		 not provided
NM_201400.3(EEF2KMT):c.697G>A (p.Val233Ile) single nucleotide variant Malignant melanoma [RCV000071157] Chr16:5090129 [GRCh38]
Chr16:5140130 [GRCh37]
Chr16:5080131 [NCBI36]
Chr16:16p13.3		 not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001517514]|not provided [RCV004715751]|not specified [RCV000174584] Chr16:5084773 [GRCh38]
Chr16:5134774 [GRCh37]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3 copy number gain See cases [RCV000135677] Chr16:4926922..5824683 [GRCh38]
Chr16:4976923..5874684 [GRCh37]
Chr16:4916924..5814685 [NCBI36]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1 copy number loss See cases [RCV000143281] Chr16:5028859..5255498 [GRCh38]
Chr16:5078860..5305499 [GRCh37]
Chr16:5018861..5245500 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_019109.5(ALG1):c.*17_*18dup duplication not provided [RCV001636693]|not specified [RCV000152770] Chr16:5084897..5084898 [GRCh38]
Chr16:5134898..5134899 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_019109.5(ALG1):c.1264-16C>T single nucleotide variant not specified [RCV000606428] Chr16:5084734 [GRCh38]
Chr16:5134735 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:5042610-6387873)x3 copy number gain See cases [RCV000446875] Chr16:5042610..6387873 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002062555]|ALG1-related disorder [RCV003897878]|not specified [RCV000439278] Chr16:5084767 [GRCh38]
Chr16:5134768 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV000808344]|not provided [RCV000430761] Chr16:5084828 [GRCh38]
Chr16:5134829 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_019109.5(ALG1):c.1390A>C (p.Thr464Pro) single nucleotide variant Inborn genetic diseases [RCV003299756] Chr16:5084876 [GRCh38]
Chr16:5134877 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.613G>A (p.Gly205Ser) single nucleotide variant not specified [RCV004284123] Chr16:5090213 [GRCh38]
Chr16:5140214 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_201400.4(EEF2KMT):c.394G>A (p.Gly132Ser) single nucleotide variant not specified [RCV004293813] Chr16:5090514 [GRCh38]
Chr16:5140515 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NC_000016.10:g.(?_5080946)_(5097739_?)del deletion ALG1-congenital disorder of glycosylation [RCV000708294] Chr16:5080946..5097739 [GRCh38]
Chr16:5130947..5147740 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_201400.4(EEF2KMT):c.781G>A (p.Gly261Arg) single nucleotide variant not specified [RCV004288399] Chr16:5089218 [GRCh38]
Chr16:5139219 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1264-305A>G single nucleotide variant not provided [RCV001691109] Chr16:5084445 [GRCh38]
Chr16:5134446 [GRCh37]
Chr16:16p13.3		 benign
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001858477]|Congenital disorder of glycosylation [RCV000851223]|Inborn genetic diseases [RCV002538358] Chr16:5084798 [GRCh38]
Chr16:5134799 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:5107989-5186447)x1 copy number loss not provided [RCV000847831] Chr16:5107989..5186447 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:5120096-5225217)x1 copy number loss not provided [RCV000846078] Chr16:5120096..5225217 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_019109.5(ALG1):c.*28G>A single nucleotide variant not provided [RCV001550083] Chr16:5084909 [GRCh38]
Chr16:5134910 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-9T>A single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002479099]|not provided [RCV004705965] Chr16:5084741 [GRCh38]
Chr16:5134742 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.*275G>T single nucleotide variant not provided [RCV001561905] Chr16:5085156 [GRCh38]
Chr16:5135157 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-251C>T single nucleotide variant not provided [RCV001657301] Chr16:5084499 [GRCh38]
Chr16:5134500 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1 copy number loss not provided [RCV001006750] Chr16:5080120..5201585 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1264-199C>T single nucleotide variant not provided [RCV001583519] Chr16:5084551 [GRCh38]
Chr16:5134552 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.*1074C>T single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001198597] Chr16:5084558 [GRCh38]
Chr16:5134559 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_019109.5(ALG1):c.*787C>G single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001335030]|not provided [RCV004692568] Chr16:5085668 [GRCh38]
Chr16:5135669 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001310078] Chr16:5084766 [GRCh38]
Chr16:5134767 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001306354] Chr16:5084813 [GRCh38]
Chr16:5134814 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu) single nucleotide variant Inborn genetic diseases [RCV003264001]|not provided [RCV001354201] Chr16:5084778 [GRCh38]
Chr16:5134779 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001542367] Chr16:5084792 [GRCh38]
Chr16:5134793 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019109.5(ALG1):c.1264-152G>C single nucleotide variant not provided [RCV001589635] Chr16:5084598 [GRCh38]
Chr16:5134599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001987394] Chr16:5084811 [GRCh38]
Chr16:5134812 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001966237] Chr16:5084879 [GRCh38]
Chr16:5134880 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001909997] Chr16:5084779 [GRCh38]
Chr16:5134780 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001912819] Chr16:5084871 [GRCh38]
Chr16:5134872 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001926629] Chr16:5084802 [GRCh38]
Chr16:5134803 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_5121851)_(5134882_?)dup duplication ALG1-congenital disorder of glycosylation [RCV001946210] Chr16:5121851..5134882 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1360G>A (p.Val454Met) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001962719] Chr16:5084846 [GRCh38]
Chr16:5134847 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_5134731)_(5134882_?)dup duplication ALG1-congenital disorder of glycosylation [RCV001923125] Chr16:5134731..5134882 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001935230] Chr16:5084873 [GRCh38]
Chr16:5134874 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr) indel ALG1-congenital disorder of glycosylation [RCV001957105] Chr16:5084773..5084774 [GRCh38]
Chr16:5134774..5134775 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001931900] Chr16:5084768 [GRCh38]
Chr16:5134769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001989649] Chr16:5084831 [GRCh38]
Chr16:5134832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_5121851)_(5134882_?)del deletion ALG1-congenital disorder of glycosylation [RCV001884619] Chr16:5121851..5134882 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_5125369)_(5134882_?)del deletion ALG1-congenital disorder of glycosylation [RCV002034431] Chr16:5125369..5134882 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_019109.5(ALG1):c.1264-3C>T single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001978167] Chr16:5084747 [GRCh38]
Chr16:5134748 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1264-11T>G single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001921208]|not provided [RCV004693961] Chr16:5084739 [GRCh38]
Chr16:5134740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001976324]|not provided [RCV004591678] Chr16:5084810 [GRCh38]
Chr16:5134811 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV001978797] Chr16:5084817 [GRCh38]
Chr16:5134818 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1368T>A (p.Thr456=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002105842] Chr16:5084854 [GRCh38]
Chr16:5134855 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1353G>A (p.Glu451=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002187056] Chr16:5084839 [GRCh38]
Chr16:5134840 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1332G>A (p.Ser444=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002126056]|not provided [RCV003418393] Chr16:5084818 [GRCh38]
Chr16:5134819 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002107609]|not provided [RCV002246673] Chr16:5084778 [GRCh38]
Chr16:5134779 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_019109.5(ALG1):c.1264-18C>G single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002212736] Chr16:5084732 [GRCh38]
Chr16:5134733 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1374C>T (p.Leu458=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002089633] Chr16:5084860 [GRCh38]
Chr16:5134861 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-4G>C single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002096158] Chr16:5084746 [GRCh38]
Chr16:5134747 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1275A>C (p.Ser425=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002135398] Chr16:5084761 [GRCh38]
Chr16:5134762 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-5del deletion ALG1-congenital disorder of glycosylation [RCV002175888] Chr16:5084739 [GRCh38]
Chr16:5134740 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1393dup (p.Ter465LeuextTer?) duplication not specified [RCV003123513] Chr16:5084878..5084879 [GRCh38]
Chr16:5134879..5134880 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_5132540)_(5134882_?)dup duplication ALG1-congenital disorder of glycosylation [RCV003119957] Chr16:5132540..5134882 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1359G>C (p.Trp453Cys) single nucleotide variant not specified [RCV002266509] Chr16:5084845 [GRCh38]
Chr16:5134846 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_201400.4(EEF2KMT):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004312139] Chr16:5090288 [GRCh38]
Chr16:5140289 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_201400.4(EEF2KMT):c.329G>A (p.Arg110Gln) single nucleotide variant not specified [RCV004239931] Chr16:5091807 [GRCh38]
Chr16:5141808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002947757]|Inborn genetic diseases [RCV002947756] Chr16:5084829 [GRCh38]
Chr16:5134830 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.649G>C (p.Asp217His) single nucleotide variant not specified [RCV004192808] Chr16:5090177 [GRCh38]
Chr16:5140178 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.89C>A (p.Pro30His) single nucleotide variant not specified [RCV004152873] Chr16:5097651 [GRCh38]
Chr16:5147652 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.980A>C (p.Asn327Thr) single nucleotide variant not specified [RCV004190006] Chr16:5085645 [GRCh38]
Chr16:5135646 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002947817] Chr16:5084835 [GRCh38]
Chr16:5134836 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.967A>G (p.Met323Val) single nucleotide variant not specified [RCV004222531] Chr16:5085658 [GRCh38]
Chr16:5135659 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.290C>T (p.Ala97Val) single nucleotide variant not specified [RCV004181637] Chr16:5091846 [GRCh38]
Chr16:5141847 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.797T>C (p.Leu266Pro) single nucleotide variant not specified [RCV004204224] Chr16:5089202 [GRCh38]
Chr16:5139203 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1392A>G (p.Thr464=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002975788] Chr16:5084878 [GRCh38]
Chr16:5134879 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.886G>A (p.Glu296Lys) single nucleotide variant not specified [RCV004230883] Chr16:5089113 [GRCh38]
Chr16:5139114 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1324C>A (p.Arg442=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002805823] Chr16:5084810 [GRCh38]
Chr16:5134811 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.160A>T (p.Thr54Ser) single nucleotide variant not specified [RCV004116437] Chr16:5093564 [GRCh38]
Chr16:5143565 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.817C>A (p.Gln273Lys) single nucleotide variant not specified [RCV004188740] Chr16:5089182 [GRCh38]
Chr16:5139183 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1341C>G (p.Leu447=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002766692] Chr16:5084827 [GRCh38]
Chr16:5134828 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1369G>A (p.Val457Met) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002805329] Chr16:5084855 [GRCh38]
Chr16:5134856 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.791G>A (p.Arg264Gln) single nucleotide variant not specified [RCV004205847] Chr16:5089208 [GRCh38]
Chr16:5139209 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.191C>A (p.Pro64Gln) single nucleotide variant not specified [RCV004217533] Chr16:5093533 [GRCh38]
Chr16:5143534 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.712G>A (p.Ala238Thr) single nucleotide variant not specified [RCV004184445] Chr16:5090114 [GRCh38]
Chr16:5140115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.638C>T (p.Thr213Ile) single nucleotide variant not specified [RCV004147116] Chr16:5090188 [GRCh38]
Chr16:5140189 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.545G>A (p.Arg182Gln) single nucleotide variant not specified [RCV004189939] Chr16:5090281 [GRCh38]
Chr16:5140282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1365G>C (p.Gln455His) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002900507] Chr16:5084851 [GRCh38]
Chr16:5134852 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003065433] Chr16:5084844 [GRCh38]
Chr16:5134845 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1344A>G (p.Arg448=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV002609580] Chr16:5084830 [GRCh38]
Chr16:5134831 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.809G>A (p.Arg270Gln) single nucleotide variant not specified [RCV004083791] Chr16:5089190 [GRCh38]
Chr16:5139191 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.403G>A (p.Gly135Ser) single nucleotide variant not specified [RCV004279194] Chr16:5090505 [GRCh38]
Chr16:5140506 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.770T>A (p.Met257Lys) single nucleotide variant not specified [RCV004341170] Chr16:5089229 [GRCh38]
Chr16:5139230 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.353G>A (p.Gly118Asp) single nucleotide variant not specified [RCV004355535] Chr16:5090555 [GRCh38]
Chr16:5140556 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.692C>T (p.Ala231Val) single nucleotide variant not specified [RCV004334713] Chr16:5090134 [GRCh38]
Chr16:5140135 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.745G>A (p.Val249Met) single nucleotide variant not specified [RCV004347819] Chr16:5089254 [GRCh38]
Chr16:5139255 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1302A>T (p.Leu434=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003503945] Chr16:5084788 [GRCh38]
Chr16:5134789 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-10T>G single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003504534] Chr16:5084740 [GRCh38]
Chr16:5134741 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1365G>A (p.Gln455=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003502846] Chr16:5084851 [GRCh38]
Chr16:5134852 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-16C>G single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003502769] Chr16:5084734 [GRCh38]
Chr16:5134735 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1326G>A (p.Arg442=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003502951] Chr16:5084812 [GRCh38]
Chr16:5134813 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3 copy number gain not provided [RCV003485088] Chr16:4971768..5305499 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.503C>T (p.Ala168Val) single nucleotide variant not provided [RCV003426574] Chr16:5090323 [GRCh38]
Chr16:5140324 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1272C>T (p.Phe424=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003613418] Chr16:5084758 [GRCh38]
Chr16:5134759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-5dup duplication ALG1-congenital disorder of glycosylation [RCV003611144] Chr16:5084738..5084739 [GRCh38]
Chr16:5134739..5134740 [GRCh37]
Chr16:16p13.3		 benign
NM_019109.5(ALG1):c.1264-12A>T single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003613493] Chr16:5084738 [GRCh38]
Chr16:5134739 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1314G>C (p.Arg438=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003611209] Chr16:5084800 [GRCh38]
Chr16:5134801 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1329G>A (p.Glu443=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003611722] Chr16:5084815 [GRCh38]
Chr16:5134816 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003855904]|not provided [RCV004775522] Chr16:5084862 [GRCh38]
Chr16:5134863 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1335G>A (p.Gln445=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003612550] Chr16:5084821 [GRCh38]
Chr16:5134822 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1317G>A (p.Lys439=) single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003612733] Chr16:5084803 [GRCh38]
Chr16:5134804 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-17del deletion ALG1-congenital disorder of glycosylation [RCV003611114] Chr16:5084733 [GRCh38]
Chr16:5134734 [GRCh37]
Chr16:16p13.3		 likely benign
NM_019109.5(ALG1):c.1264-17T>A single nucleotide variant ALG1-congenital disorder of glycosylation [RCV003823270] Chr16:5084733 [GRCh38]
Chr16:5134734 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:5107989-5186447)x1 copy number loss not specified [RCV003987185] Chr16:5107989..5186447 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.*5T>C single nucleotide variant ALG1-related disorder [RCV003911927] Chr16:5084886 [GRCh38]
Chr16:5134887 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.139C>G (p.Leu47Val) single nucleotide variant not specified [RCV004384680] Chr16:5095472 [GRCh38]
Chr16:5145473 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.173C>T (p.Pro58Leu) single nucleotide variant not specified [RCV004384682] Chr16:5093551 [GRCh38]
Chr16:5143552 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.571A>G (p.Ser191Gly) single nucleotide variant not specified [RCV004384685] Chr16:5090255 [GRCh38]
Chr16:5140256 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.70C>G (p.Arg24Gly) single nucleotide variant not specified [RCV004384686] Chr16:5097670 [GRCh38]
Chr16:5147671 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.850G>A (p.Val284Ile) single nucleotide variant not specified [RCV004384689] Chr16:5089149 [GRCh38]
Chr16:5139150 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.811G>C (p.Glu271Gln) single nucleotide variant not specified [RCV004384688] Chr16:5089188 [GRCh38]
Chr16:5139189 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr) single nucleotide variant Inborn genetic diseases [RCV004400835] Chr16:5084774 [GRCh38]
Chr16:5134775 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.88C>T (p.Pro30Ser) single nucleotide variant not specified [RCV004384690] Chr16:5097652 [GRCh38]
Chr16:5147653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.896G>A (p.Arg299Gln) single nucleotide variant not specified [RCV004384691] Chr16:5085729 [GRCh38]
Chr16:5135730 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.154C>T (p.His52Tyr) single nucleotide variant not specified [RCV004384681] Chr16:5095457 [GRCh38]
Chr16:5145458 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.356C>T (p.Ser119Leu) single nucleotide variant not specified [RCV004384683] Chr16:5090552 [GRCh38]
Chr16:5140553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.808C>T (p.Arg270Trp) single nucleotide variant not specified [RCV004384687] Chr16:5089191 [GRCh38]
Chr16:5139192 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_5127426)_(5134882_?)del deletion ALG1-congenital disorder of glycosylation [RCV004582727] Chr16:5127426..5134882 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_5133663)_(5134882_?)del deletion ALG1-congenital disorder of glycosylation [RCV004582726] Chr16:5133663..5134882 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_5132540)_(5134882_?)del deletion ALG1-congenital disorder of glycosylation [RCV004582725] Chr16:5132540..5134882 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_201400.4(EEF2KMT):c.53G>A (p.Arg18His) single nucleotide variant not specified [RCV004617679] Chr16:5097687 [GRCh38]
Chr16:5147688 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.763G>A (p.Ala255Thr) single nucleotide variant not specified [RCV004617681] Chr16:5089236 [GRCh38]
Chr16:5139237 [GRCh37]
Chr16:16p13.3		 likely benign
NM_201400.4(EEF2KMT):c.364C>A (p.Leu122Ile) single nucleotide variant not specified [RCV004617682] Chr16:5090544 [GRCh38]
Chr16:5140545 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.926G>A (p.Arg309His) single nucleotide variant not specified [RCV004617680] Chr16:5085699 [GRCh38]
Chr16:5135700 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.163G>A (p.Val55Met) single nucleotide variant not specified [RCV004617683] Chr16:5093561 [GRCh38]
Chr16:5143562 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_019109.5(ALG1):c.1339C>T (p.Leu447Phe) single nucleotide variant Inborn genetic diseases [RCV004630297] Chr16:5084825 [GRCh38]
Chr16:5134826 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_201400.4(EEF2KMT):c.593G>A (p.Arg198Gln) single nucleotide variant not specified [RCV004617678] Chr16:5090233 [GRCh38]
Chr16:5140234 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3567
Count of miRNA genes:946
Interacting mature miRNAs:1112
Transcripts:ENST00000427587, ENST00000458008, ENST00000585436, ENST00000585975, ENST00000586444, ENST00000587133, ENST00000587161, ENST00000587200, ENST00000587608
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D8S1640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,138,513 - 5,138,688UniSTSGRCh37
GRCh3749,701,538 - 9,701,713UniSTSGRCh37
Build 3649,310,636 - 9,310,811RGDNCBI36
Celera410,181,776 - 10,181,951RGD
Celera165,347,905 - 5,348,080UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef49,033,322 - 9,033,497UniSTS
HuRef165,104,651 - 5,104,826UniSTS
Whitehead-YAC Contig Map8 UniSTS


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
1204 2435 2788 2250 4965 1725 2350 5 623 1949 465 2268 7294 6464 52 3728 850 1738 1615 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001289029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA454579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI669435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL522535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY037162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF314717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG024981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG683728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI491350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM691620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ215173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ921410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA495371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY017433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY265953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX424572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000427587   ⟹   ENSP00000398502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,084,284 - 5,097,795 (-)Ensembl
Ensembl Acc Id: ENST00000458008   ⟹   ENSP00000389710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,084,304 - 5,097,788 (-)Ensembl
Ensembl Acc Id: ENST00000585436   ⟹   ENSP00000464781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,084,718 - 5,097,754 (-)Ensembl
Ensembl Acc Id: ENST00000585975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,089,176 - 5,097,778 (-)Ensembl
Ensembl Acc Id: ENST00000586444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,090,241 - 5,097,786 (-)Ensembl
Ensembl Acc Id: ENST00000587133   ⟹   ENSP00000468599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,085,572 - 5,097,742 (-)Ensembl
Ensembl Acc Id: ENST00000587161   ⟹   ENSP00000464773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,085,363 - 5,097,766 (-)Ensembl
Ensembl Acc Id: ENST00000587200   ⟹   ENSP00000467790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,085,615 - 5,097,774 (-)Ensembl
Ensembl Acc Id: ENST00000587608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,085,536 - 5,089,428 (-)Ensembl
RefSeq Acc Id: NM_001289029   ⟹   NP_001275958
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,084,284 - 5,097,795 (-)NCBI
HuRef165,100,367 - 5,113,948 (-)NCBI
CHM1_1165,135,491 - 5,149,017 (-)NCBI
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201400   ⟹   NP_958802
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,084,284 - 5,097,795 (-)NCBI
GRCh37165,134,301 - 5,147,789 (-)RGD
GRCh37165,134,301 - 5,147,789 (-)NCBI
Build 36165,075,236 - 5,087,782 (-)NCBI Archive
Celera165,343,693 - 5,357,187 (-)RGD
HuRef165,100,367 - 5,113,948 (-)NCBI
CHM1_1165,135,491 - 5,149,017 (-)NCBI
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201598   ⟹   NP_963892
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,084,284 - 5,097,795 (-)NCBI
GRCh37165,134,301 - 5,147,789 (-)RGD
GRCh37165,134,301 - 5,147,789 (-)NCBI
Build 36165,075,236 - 5,087,782 (-)NCBI Archive
Celera165,343,693 - 5,357,187 (-)RGD
HuRef165,100,367 - 5,113,948 (-)NCBI
CHM1_1165,135,491 - 5,149,017 (-)NCBI
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005255157   ⟹   XP_005255214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,084,284 - 5,097,795 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005255158   ⟹   XP_005255215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,084,284 - 5,097,795 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522404   ⟹   XP_011520706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,084,284 - 5,097,795 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054379741   ⟹   XP_054235716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBI
RefSeq Acc Id: XM_054379742   ⟹   XP_054235717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBI
RefSeq Acc Id: XM_054379743   ⟹   XP_054235718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0165,113,786 - 5,127,302 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001275958 (Get FASTA)   NCBI Sequence Viewer  
  NP_958802 (Get FASTA)   NCBI Sequence Viewer  
  NP_963892 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255214 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255215 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520706 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235718 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10084 (Get FASTA)   NCBI Sequence Viewer  
  AAK67640 (Get FASTA)   NCBI Sequence Viewer  
  AGL91772 (Get FASTA)   NCBI Sequence Viewer  
  EAW85229 (Get FASTA)   NCBI Sequence Viewer  
  EAW85230 (Get FASTA)   NCBI Sequence Viewer  
  EAW85231 (Get FASTA)   NCBI Sequence Viewer  
  EAW85232 (Get FASTA)   NCBI Sequence Viewer  
  EAW85233 (Get FASTA)   NCBI Sequence Viewer  
  EAW85234 (Get FASTA)   NCBI Sequence Viewer  
  EAW85235 (Get FASTA)   NCBI Sequence Viewer  
  EAW85236 (Get FASTA)   NCBI Sequence Viewer  
  EAW85237 (Get FASTA)   NCBI Sequence Viewer  
  EAW85238 (Get FASTA)   NCBI Sequence Viewer  
  EAW85239 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000389710
  ENSP00000389710.3
  ENSP00000398502
  ENSP00000398502.3
  ENSP00000464773.1
  ENSP00000464781.1
  ENSP00000467790.1
  ENSP00000468599
  ENSP00000468599.1
GenBank Protein Q96G04 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_958802   ⟸   NM_201400
- Peptide Label: isoform 1
- UniProtKB: D3DUF0 (UniProtKB/Swiss-Prot),   Q96S85 (UniProtKB/Swiss-Prot),   Q96G04 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963892   ⟸   NM_201598
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_005255214   ⟸   XM_005255157
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005255215   ⟸   XM_005255158
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001275958   ⟸   NM_001289029
- Peptide Label: isoform 3
- UniProtKB: K7ES84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520706   ⟸   XM_011522404
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000398502   ⟸   ENST00000427587
Ensembl Acc Id: ENSP00000464781   ⟸   ENST00000585436
Ensembl Acc Id: ENSP00000464773   ⟸   ENST00000587161
Ensembl Acc Id: ENSP00000468599   ⟸   ENST00000587133
Ensembl Acc Id: ENSP00000467790   ⟸   ENST00000587200
Ensembl Acc Id: ENSP00000389710   ⟸   ENST00000458008
RefSeq Acc Id: XP_054235716   ⟸   XM_054379741
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235718   ⟸   XM_054379743
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235717   ⟸   XM_054379742
- Peptide Label: isoform X2
Protein Domains
FAM86 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96G04-F1-model_v2 AlphaFold Q96G04 1-330 view protein structure

Promoters
RGD ID:6793110
Promoter ID:HG_KWN:22960
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_201598,   OTTHUMT00000251713
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,087,076 - 5,087,576 (-)MPROMDB
RGD ID:7231259
Promoter ID:EPDNEW_H21375
Type:initiation region
Name:EEF2KMT_1
Description:eukaryotic elongation factor 2 lysine methyltransferase
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
GRCh38165,097,754 - 5,097,814EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32221 AgrOrtholog
COSMIC EEF2KMT COSMIC
Ensembl Genes ENSG00000118894 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000427587 ENTREZGENE
  ENST00000427587.9 UniProtKB/Swiss-Prot
  ENST00000458008 ENTREZGENE
  ENST00000458008.8 UniProtKB/Swiss-Prot
  ENST00000585436.5 UniProtKB/TrEMBL
  ENST00000587133 ENTREZGENE
  ENST00000587133.1 UniProtKB/TrEMBL
  ENST00000587161.5 UniProtKB/TrEMBL
  ENST00000587200.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118894 GTEx
HGNC ID HGNC:32221 ENTREZGENE
Human Proteome Map EEF2KMT Human Proteome Map
InterPro FAM86 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:196483 UniProtKB/Swiss-Prot
NCBI Gene 196483 ENTREZGENE
OMIM 615263 OMIM
PANTHER PROTEIN-LYSINE N-METHYLTRANSFERASE EEF2KMT-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14614 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM86 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671858 PharmGKB
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DUF0 ENTREZGENE
  EF2KT_HUMAN UniProtKB/Swiss-Prot
  K7EIJ3_HUMAN UniProtKB/TrEMBL
  K7EQE4_HUMAN UniProtKB/TrEMBL
  K7ES84 ENTREZGENE, UniProtKB/TrEMBL
  Q96G04 ENTREZGENE
  Q96S85 ENTREZGENE
UniProt Secondary D3DUF0 UniProtKB/Swiss-Prot
  Q96S85 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-11-26 EEF2KMT  eukaryotic elongation factor 2 lysine methyltransferase  FAM86A  family with sequence similarity 86, member A  Symbol and/or name change 5135510 APPROVED