EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma) - Rat Genome Database

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Gene: EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma) Homo sapiens
Analyze
Symbol: EIF2S3
Name: eukaryotic translation initiation factor 2 subunit gamma
RGD ID: 1346365
HGNC Page HGNC
Description: Exhibits translation initiation factor activity. Is predicted to contribute to tRNA binding activity. Involved in translational initiation. Localizes to eukaryotic translation initiation factor 2 complex. Implicated in MEHMO syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: eIF-2-gamma X; eIF-2gA; eIF-2gX; EIF2; EIF2G; EIF2gamma; eukaryotic translation initiation factor 2 subunit 3; eukaryotic translation initiation factor 2 subunit gamma X; eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa; eukaryotic translation initiation factor 2G; MEHMO; MRXSBRK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL358876.1   LOC100131158   LOC100328982  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX24,054,946 - 24,078,810 (+)EnsemblGRCh38hg38GRCh38
GRCh38X24,054,956 - 24,078,810 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X24,073,073 - 24,096,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,982,986 - 24,006,848 (+)NCBINCBI36hg18NCBI36
Build 34X23,832,721 - 23,855,743NCBI
CeleraX28,196,181 - 28,220,053 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,816,175 - 21,839,574 (+)NCBIHuRef
CHM1_1X24,104,271 - 24,128,153 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Babinski sign  (IAGP)
Birth length less than 3rd percentile  (IAGP)
Broad nasal tip  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cryptorchidism  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal tip  (IAGP)
Diabetes mellitus  (IAGP)
Difficulty walking  (IAGP)
Downturned corners of mouth  (IAGP)
Drooling  (IAGP)
EEG abnormality  (IAGP)
Full cheeks  (IAGP)
Gait ataxia  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Large earlobe  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Macrotia  (IAGP)
Male hypogonadism  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Poor speech  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tall chin  (IAGP)
Tapered finger  (IAGP)
Thick vermilion border  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Widely spaced teeth  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1104615   PMID:8098621   PMID:8106381   PMID:8125298   PMID:9079663   PMID:9736774   PMID:10620360   PMID:10648795   PMID:10900014   PMID:12426392   PMID:12477932   PMID:12588972  
PMID:12665801   PMID:15489334   PMID:15635413   PMID:15669143   PMID:16201836   PMID:16288713   PMID:16289705   PMID:16712791   PMID:17220478   PMID:17353931   PMID:19322201   PMID:19723899  
PMID:19738201   PMID:20020773   PMID:20434207   PMID:20458337   PMID:21081503   PMID:21145461   PMID:21319273   PMID:21873635   PMID:21907836   PMID:22145905   PMID:22174317   PMID:22863883  
PMID:22939629   PMID:22952844   PMID:23063529   PMID:23166591   PMID:23602568   PMID:24457600   PMID:25437307   PMID:25468996   PMID:25737280   PMID:25798074   PMID:25921289   PMID:26186194  
PMID:26209609   PMID:26269332   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26673895   PMID:26816005   PMID:27025967   PMID:27333055   PMID:27462432   PMID:27591049  
PMID:27684187   PMID:28055140   PMID:28514442   PMID:28515276   PMID:29117863   PMID:29298432   PMID:29303605   PMID:29509190   PMID:29802200   PMID:29859926   PMID:29955894   PMID:30194290  
PMID:30320934   PMID:30463901   PMID:30517694   PMID:30575818   PMID:30699057   PMID:30745168   PMID:30833792   PMID:30878599   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31059266  
PMID:31091453   PMID:31152661   PMID:31239290   PMID:31527615   PMID:31551363   PMID:31995728   PMID:32129710   PMID:32529326   PMID:32780723   PMID:32814053   PMID:33144569  


Genomics

Comparative Map Data
EIF2S3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX24,054,946 - 24,078,810 (+)EnsemblGRCh38hg38GRCh38
GRCh38X24,054,956 - 24,078,810 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X24,073,073 - 24,096,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,982,986 - 24,006,848 (+)NCBINCBI36hg18NCBI36
Build 34X23,832,721 - 23,855,743NCBI
CeleraX28,196,181 - 28,220,053 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,816,175 - 21,839,574 (+)NCBIHuRef
CHM1_1X24,104,271 - 24,128,153 (+)NCBICHM1_1
Eif2s3x
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X93,232,315 - 93,256,257 (-)NCBIGRCm39mm39
GRCm39 EnsemblX93,232,313 - 93,256,468 (-)Ensembl
GRCm38X94,188,709 - 94,212,651 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX94,188,707 - 94,212,862 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X91,434,048 - 91,457,990 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X90,441,428 - 90,465,370 (-)NCBImm8
CeleraX81,110,914 - 81,134,502 (-)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX41.52NCBI
Eif2s3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X58,916,513 - 58,939,923 (-)NCBI
Rnor_6.0 EnsemblX63,268,037 - 63,292,092 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X63,268,106 - 63,291,125 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X63,861,008 - 63,884,027 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X81,542,853 - 81,566,259 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX59,352,186 - 59,375,591 (-)NCBICelera
Cytogenetic MapXq22NCBI
Eif2s3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555094,437,044 - 4,457,819 (+)NCBIChiLan1.0ChiLan1.0
EIF2S3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X24,027,099 - 24,050,879 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX24,027,099 - 24,050,879 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X16,653,762 - 16,678,198 (+)NCBIMhudiblu_PPA_v0panPan3
EIF2S3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X19,662,132 - 19,680,223 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX19,650,343 - 19,680,221 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X19,617,765 - 19,635,846 (+)NCBI
UMICH_Zoey_3.1X19,656,521 - 19,674,614 (+)NCBI
UNSW_CanFamBas_1.0X19,689,972 - 19,708,341 (+)NCBI
UU_Cfam_GSD_1.0X19,746,165 - 19,764,509 (+)NCBI
Eif2s3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X12,622,024 - 12,641,621 (+)NCBI
SpeTri2.0NW_004936624516,206 - 535,749 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EIF2S3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X20,129,708 - 20,162,881 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X21,554,153 - 21,587,126 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EIF2S3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X22,523,330 - 22,549,827 (+)NCBI
Vero_WHO_p1.0NW_02366605624,404,897 - 24,429,467 (+)NCBI
Eif2s3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624897424,144 - 445,698 (+)NCBI

Position Markers
D12S1830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371210,660,504 - 10,660,705UniSTSGRCh37
GRCh37X24,095,501 - 24,095,701UniSTSGRCh37
Build 36X24,005,422 - 24,005,622RGDNCBI36
Celera1215,806,951 - 15,807,152UniSTS
CeleraX28,218,627 - 28,218,827RGD
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
HuRef1210,387,514 - 10,387,715UniSTS
HuRefX21,838,148 - 21,838,348UniSTS
RH17627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371210,659,622 - 10,659,857UniSTSGRCh37
GRCh37X24,089,783 - 24,091,381UniSTSGRCh37
Build 361210,550,889 - 10,551,124RGDNCBI36
CeleraX28,212,909 - 28,214,507UniSTS
Celera1215,806,069 - 15,806,304RGD
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
HuRef1210,386,632 - 10,386,867UniSTS
HuRefX21,832,474 - 21,834,072UniSTS
GeneMap99-GB4 RH Map1258.21UniSTS
NCBI RH Map12159.2UniSTS
A009Y29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,026,503 - 41,026,603UniSTSGRCh37
GRCh37X24,096,699 - 24,096,799UniSTSGRCh37
Build 36X24,006,620 - 24,006,720RGDNCBI36
CeleraX28,219,825 - 28,219,925RGD
Celera139,308,896 - 39,308,996UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX21,839,346 - 21,839,446UniSTS
HuRef139,144,536 - 39,144,636UniSTS
GeneMap99-GB4 RH Map1125.2UniSTS
NCBI RH Map1293.3UniSTS
EIF2S3_1860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,095,208 - 24,096,093UniSTSGRCh37
Build 36X24,005,129 - 24,006,014RGDNCBI36
CeleraX28,218,334 - 28,219,219RGD
HuRefX21,837,855 - 21,838,740UniSTS
L29953  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map9p13.3UniSTS
G32988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,096,699 - 24,096,799UniSTSGRCh37
GRCh37141,026,503 - 41,026,603UniSTSGRCh37
Celera139,308,896 - 39,308,996UniSTS
CeleraX28,219,825 - 28,219,925UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRef139,144,536 - 39,144,636UniSTS
HuRefX21,839,346 - 21,839,446UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
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Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
EIF2S3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371210,658,652 - 10,658,794UniSTSGRCh37
GRCh37X24,075,555 - 24,075,781UniSTSGRCh37
CeleraX28,198,671 - 28,198,897UniSTS
Celera1215,805,099 - 15,805,241UniSTS
HuRef1210,385,662 - 10,385,804UniSTS
D17S1239  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p24UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map15q22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1162
Count of miRNA genes:833
Interacting mature miRNAs:935
Transcripts:ENST00000253039, ENST00000423068, ENST00000460032, ENST00000487075
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 1 9 1 11 2
Medium 2438 2875 1724 622 1918 463 4357 2113 3568 418 1447 1609 175 1 1204 2788 6 2
Low 116 1 1 24 1 84 166 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI133612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF435665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB150474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253039   ⟹   ENSP00000253039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,054,956 - 24,078,810 (+)Ensembl
RefSeq Acc Id: ENST00000423068   ⟹   ENSP00000391383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,054,971 - 24,060,479 (+)Ensembl
RefSeq Acc Id: ENST00000457332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,073,262 - 24,077,408 (+)Ensembl
RefSeq Acc Id: ENST00000460032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,071,713 - 24,073,528 (+)Ensembl
RefSeq Acc Id: ENST00000487075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,054,946 - 24,062,626 (+)Ensembl
RefSeq Acc Id: NM_001415   ⟹   NP_001406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,054,956 - 24,078,810 (+)NCBI
GRCh37X24,073,065 - 24,096,927 (+)ENTREZGENE
Build 36X23,982,986 - 24,006,848 (+)NCBI Archive
HuRefX21,816,175 - 21,839,574 (+)ENTREZGENE
CHM1_1X24,104,271 - 24,128,153 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001406   ⟸   NM_001415
- UniProtKB: P41091 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000391383   ⟸   ENST00000423068
RefSeq Acc Id: ENSP00000253039   ⟸   ENST00000253039
Protein Domains
tr-type G

Promoters
RGD ID:6808646
Promoter ID:HG_KWN:66264
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:OTTHUMT00000056079,   OTTHUMT00000056080,   OTTHUMT00000056082
Position:
Human AssemblyChrPosition (strand)Source
Build 36X23,982,046 - 23,983,052 (+)MPROMDB
RGD ID:6808648
Promoter ID:HG_KWN:66265
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056081
Position:
Human AssemblyChrPosition (strand)Source
Build 36X23,998,716 - 23,999,216 (+)MPROMDB
RGD ID:13604940
Promoter ID:EPDNEW_H28654
Type:initiation region
Name:EIF2S3_2
Description:eukaryotic translation initiation factor 2 subunit gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28655  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,054,695 - 24,054,755EPDNEW
RGD ID:13604942
Promoter ID:EPDNEW_H28655
Type:initiation region
Name:EIF2S3_1
Description:eukaryotic translation initiation factor 2 subunit gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,054,956 - 24,055,016EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001415.4(EIF2S3):c.5C>G (p.Ala2Gly) single nucleotide variant not provided [RCV000522060] ChrX:24054973 [GRCh38]
ChrX:24073090 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001415.4(EIF2S3):c.1266C>T (p.Ala422=) single nucleotide variant not provided [RCV000968431]|not specified [RCV000116973] ChrX:24073174 [GRCh38]
ChrX:24091291 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_001415.4(EIF2S3):c.374A>G (p.Lys125Arg) single nucleotide variant not specified [RCV000116974] ChrX:24057745 [GRCh38]
ChrX:24075862 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_001415.4(EIF2S3):c.99C>T (p.His33=) single nucleotide variant not specified [RCV000116975] ChrX:24055644 [GRCh38]
ChrX:24073761 [GRCh37]
ChrX:Xp22.11
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) deletion MEHMO syndrome [RCV000408900]|not provided [RCV000482525] ChrX:24076757..24076760 [GRCh38]
ChrX:24094874..24094877 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr) single nucleotide variant MEHMO syndrome [RCV000257965] ChrX:24064228 [GRCh38]
ChrX:24082345 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met) single nucleotide variant MEHMO syndrome [RCV000257991] ChrX:24066002 [GRCh38]
ChrX:24084119 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_001415.4(EIF2S3):c.133+8T>C single nucleotide variant not provided [RCV000907703]|not specified [RCV000193580] ChrX:24055686 [GRCh38]
ChrX:24073803 [GRCh37]
ChrX:Xp22.11
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11(chrX:23693142-24483640)x2 copy number gain See cases [RCV000240160] ChrX:23693142..24483640 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24006637-25035452)x2 copy number gain See cases [RCV000240096] ChrX:24006637..25035452 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001415.4(EIF2S3):c.134-6C>G single nucleotide variant not provided [RCV000519212] ChrX:24057415 [GRCh38]
ChrX:24075532 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) single nucleotide variant MEHMO syndrome [RCV000408899] ChrX:24057695 [GRCh38]
ChrX:24075812 [GRCh37]
ChrX:Xp22.11
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) single nucleotide variant MEHMO syndrome [RCV000578308] ChrX:24060135 [GRCh38]
ChrX:24078252 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001415.4(EIF2S3):c.134-4A>G single nucleotide variant not specified [RCV000609829] ChrX:24057417 [GRCh38]
ChrX:24075534 [GRCh37]
ChrX:Xp22.11
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3 copy number gain not provided [RCV000684291] ChrX:23371361..25493197 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.11(chrX:23373804-24332336)x2 copy number gain not provided [RCV000684292] ChrX:23373804..24332336 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_001415.4(EIF2S3):c.417T>C (p.Asp139=) single nucleotide variant not provided [RCV000980022] ChrX:24060121 [GRCh38]
ChrX:24078238 [GRCh37]
ChrX:Xp22.11
likely benign
NM_001415.4(EIF2S3):c.289C>T (p.Pro97Ser) single nucleotide variant not provided [RCV000762612] ChrX:24057660 [GRCh38]
ChrX:24075777 [GRCh37]
ChrX:Xp22.11
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001415.4(EIF2S3):c.966T>C (p.Phe322=) single nucleotide variant not provided [RCV000916425] ChrX:24068062 [GRCh38]
ChrX:24086179 [GRCh37]
ChrX:Xp22.11
likely benign
NM_001415.4(EIF2S3):c.123A>G (p.Thr41=) single nucleotide variant not provided [RCV000966113] ChrX:24055668 [GRCh38]
ChrX:24073785 [GRCh37]
ChrX:Xp22.11
benign
NM_001415.4(EIF2S3):c.1314A>G (p.Gly438=) single nucleotide variant not provided [RCV000925629] ChrX:24073222 [GRCh38]
ChrX:24091339 [GRCh37]
ChrX:Xp22.11
benign
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) single nucleotide variant MEHMO syndrome [RCV000991276] ChrX:24060137 [GRCh38]
ChrX:24078254 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_001415.4(EIF2S3):c.797A>T (p.Lys266Ile) single nucleotide variant not provided [RCV000999355] ChrX:24066022 [GRCh38]
ChrX:24084139 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
NM_001415.4(EIF2S3):c.6G>T (p.Ala2=) single nucleotide variant not provided [RCV000999353] ChrX:24054974 [GRCh38]
ChrX:24073091 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_001415.4(EIF2S3):c.28C>T (p.Leu10=) single nucleotide variant not provided [RCV000999354] ChrX:24054996 [GRCh38]
ChrX:24073113 [GRCh37]
ChrX:Xp22.11
likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001415.4(EIF2S3):c.912T>C (p.Asp304=) single nucleotide variant not provided [RCV000931336] ChrX:24068008 [GRCh38]
ChrX:24086125 [GRCh37]
ChrX:Xp22.11
benign
NM_001415.4(EIF2S3):c.867+7T>C single nucleotide variant not provided [RCV000913869] ChrX:24066099 [GRCh38]
ChrX:24084216 [GRCh37]
ChrX:Xp22.11
likely benign
NM_001415.4(EIF2S3):c.274G>A (p.Asp92Asn) single nucleotide variant Inborn genetic diseases [RCV001266822] ChrX:24057645 [GRCh38]
ChrX:24075762 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001415.4(EIF2S3):c.306T>C (p.Tyr102=) single nucleotide variant not provided [RCV001311827] ChrX:24057677 [GRCh38]
ChrX:24075794 [GRCh37]
ChrX:Xp22.11
likely benign
NM_001415.4(EIF2S3):c.675A>G (p.Ser225=) single nucleotide variant not provided [RCV001311828] ChrX:24064238 [GRCh38]
ChrX:24082355 [GRCh37]
ChrX:Xp22.11
likely benign
NM_001415.4(EIF2S3):c.1183-15A>G single nucleotide variant MEHMO syndrome [RCV001336367] ChrX:24073076 [GRCh38]
ChrX:24091193 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3267 AgrOrtholog
COSMIC EIF2S3 COSMIC
Ensembl Genes ENSG00000130741 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391383 UniProtKB/TrEMBL
Ensembl Transcript ENST00000253039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423068 UniProtKB/TrEMBL
GTEx ENSG00000130741 GTEx
HGNC ID HGNC:3267 ENTREZGENE
Human Proteome Map EIF2S3 Human Proteome Map
InterPro EFTu-like_2 UniProtKB/Swiss-Prot
  eIF2g_dom_2 UniProtKB/Swiss-Prot
  eIF2g_GTP-bd UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIF2_gsu_C UniProtKB/Swiss-Prot
  Transl_B-barrel_sf UniProtKB/Swiss-Prot
  Transl_elong_EF1A/Init_IF2_C UniProtKB/Swiss-Prot
KEGG Report hsa:1968 UniProtKB/Swiss-Prot
NCBI Gene 1968 ENTREZGENE
OMIM 300148 OMIM
  300161 OMIM
Pfam eIF2_C UniProtKB/Swiss-Prot
  GTP_EFTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTP_EFTU_D2 UniProtKB/Swiss-Prot
PharmGKB PA27697 PharmGKB
PRINTS ELONGATNFCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_TR_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50447 UniProtKB/Swiss-Prot
  SSF50465 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7BZU1_HUMAN UniProtKB/TrEMBL
  IF2G_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A024RBY4 UniProtKB/Swiss-Prot
  A8K2Y2 UniProtKB/Swiss-Prot
  B2R5N2 UniProtKB/Swiss-Prot
  B5BTZ4 UniProtKB/Swiss-Prot
  Q53HK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 EIF2S3  eukaryotic translation initiation factor 2 subunit gamma    eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa  Symbol and/or name change 5135510 APPROVED