EIF5 (eukaryotic translation initiation factor 5) - Rat Genome Database

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Gene: EIF5 (eukaryotic translation initiation factor 5) Homo sapiens
Analyze
Symbol: EIF5
Name: eukaryotic translation initiation factor 5
RGD ID: 736122
HGNC Page HGNC:3299
Description: Enables RNA binding activity and cadherin binding activity. Involved in regulation of translational initiation and ribosome assembly. Located in cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EIF-5; EIF-5A; eukaryotic initiation factor 5 (eif-5)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: EIF5P1   EIF5P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814103,334,237 - 103,345,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14103,333,544 - 103,345,025 (+)EnsemblGRCh38hg38GRCh38
GRCh3714103,800,574 - 103,811,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614102,870,246 - 102,881,115 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414102,870,988 - 102,881,112NCBI
Celera1483,854,670 - 83,865,542 (+)NCBICelera
Cytogenetic Map14q32.32NCBI
HuRef1483,978,717 - 83,989,557 (+)NCBIHuRef
CHM1_114103,738,116 - 103,749,143 (+)NCBICHM1_1
T2T-CHM13v2.01497,570,092 - 97,580,884 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
acrylamide  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-phellandrene  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
biochanin A  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dichlorine  (ISO)
diclofenac  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
furfural  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
iron dichloride  (EXP)
ivermectin  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nefazodone  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
orotic acid  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rimonabant  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
theophylline  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tunicamycin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,TAS)
nucleus  (IDA)
plasma membrane  (IDA)
synapse  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Molecular cloning and expression of cDNA for mammalian translation initiation factor 5. Das K, etal., Proc Natl Acad Sci U S A 1993 Apr 1;90(7):3058-62.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The scanning mechanism of eukaryotic translation initiation. Hinnebusch AG Annu Rev Biochem. 2014;83:779-812. doi: 10.1146/annurev-biochem-060713-035802. Epub 2014 Jan 29.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8663286   PMID:9395514   PMID:9973622   PMID:10659855   PMID:10805737   PMID:10982835   PMID:11092890   PMID:11230166   PMID:11331597   PMID:11861906   PMID:12426392   PMID:12477932  
PMID:12569173   PMID:14702039   PMID:15489334   PMID:16227438   PMID:16584190   PMID:16781736   PMID:17081983   PMID:17207965   PMID:18029348   PMID:19738201   PMID:19953087   PMID:20562859  
PMID:21745818   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22062548   PMID:22156057   PMID:22412018   PMID:22681889   PMID:22813744   PMID:22863883   PMID:22939629   PMID:23222517  
PMID:23293029   PMID:23472066   PMID:24319994   PMID:24658146   PMID:25147182   PMID:25277244   PMID:25416956   PMID:25468996   PMID:25631074   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26673895   PMID:26717981   PMID:27325740   PMID:27437069   PMID:27986751   PMID:28385532   PMID:28514442   PMID:28581483   PMID:28700943   PMID:28981728   PMID:28986522   PMID:29357390  
PMID:29872149   PMID:29955894   PMID:30196744   PMID:30211544   PMID:30274258   PMID:30884312   PMID:30948266   PMID:31046837   PMID:31091453   PMID:31177093   PMID:31452512   PMID:31478661  
PMID:31519766   PMID:31527615   PMID:31617661   PMID:31732153   PMID:31950832   PMID:31980649   PMID:32296183   PMID:32457219   PMID:32513696   PMID:32529326   PMID:32687490   PMID:32788342  
PMID:32814053   PMID:32994395   PMID:33022573   PMID:33226137   PMID:33397691   PMID:33545068   PMID:33766124   PMID:33916271   PMID:33961781   PMID:34189442   PMID:34315543   PMID:34349018  
PMID:34373451   PMID:34403101   PMID:34795231   PMID:35235311   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35676659   PMID:35831314   PMID:35944360   PMID:35973513   PMID:35987950  
PMID:36114006   PMID:36180527   PMID:36215168   PMID:36232890   PMID:36369321   PMID:36373674   PMID:36526897   PMID:36543142   PMID:36931259   PMID:37039823   PMID:37223481   PMID:37267103  
PMID:37774976   PMID:37827155   PMID:38113892   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
EIF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814103,334,237 - 103,345,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14103,333,544 - 103,345,025 (+)EnsemblGRCh38hg38GRCh38
GRCh3714103,800,574 - 103,811,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614102,870,246 - 102,881,115 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414102,870,988 - 102,881,112NCBI
Celera1483,854,670 - 83,865,542 (+)NCBICelera
Cytogenetic Map14q32.32NCBI
HuRef1483,978,717 - 83,989,557 (+)NCBIHuRef
CHM1_114103,738,116 - 103,749,143 (+)NCBICHM1_1
T2T-CHM13v2.01497,570,092 - 97,580,884 (+)NCBIT2T-CHM13v2.0
Eif5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912111,504,535 - 111,513,187 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12111,504,450 - 111,513,186 (+)EnsemblGRCm39 Ensembl
GRCm3812111,538,101 - 111,546,753 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12111,538,016 - 111,546,752 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712112,776,312 - 112,784,964 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612111,987,328 - 111,994,247 (+)NCBIMGSCv36mm8
Celera12112,732,164 - 112,740,796 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.03NCBI
Eif5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86136,410,333 - 136,418,827 (+)NCBIGRCr8
mRatBN7.26130,589,162 - 130,597,656 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6130,589,143 - 130,597,656 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6130,756,452 - 130,764,934 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06131,052,437 - 131,060,919 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06130,419,289 - 130,427,783 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06136,002,962 - 136,011,409 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6136,004,214 - 136,011,406 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06144,405,130 - 144,413,556 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46136,311,381 - 136,318,586 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16136,317,567 - 136,324,773 (+)NCBI
Celera6128,144,864 - 128,153,363 (+)NCBICelera
Cytogenetic Map6q32NCBI
Eif5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555382,226,443 - 2,233,403 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555382,226,493 - 2,233,275 (+)NCBIChiLan1.0ChiLan1.0
EIF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215104,493,199 - 104,500,545 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114103,710,151 - 103,717,045 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01483,960,299 - 83,969,352 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114103,772,370 - 103,783,403 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14103,773,309 - 103,783,403 (+)Ensemblpanpan1.1panPan2
EIF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1871,102,628 - 71,111,971 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl871,102,690 - 71,270,399 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha870,614,368 - 70,623,740 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0871,378,362 - 71,387,734 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl871,378,488 - 71,387,734 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1871,067,872 - 71,077,243 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0871,106,898 - 71,116,259 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0871,506,710 - 71,516,119 (+)NCBIUU_Cfam_GSD_1.0
Eif5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086402,943,160 - 2,950,723 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366211,769,952 - 1,779,709 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366211,772,116 - 1,779,669 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EIF5
(Sus scrofa - pig)		 No map positions available.
EIF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12481,303,713 - 81,313,254 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2481,303,911 - 81,313,807 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605368,570,883 - 68,580,155 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eif5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247341,501,684 - 1,509,686 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EIF5
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
NM_001969.4(EIF5):c.1092C>T (p.Ser364=) single nucleotide variant Malignant melanoma [RCV000062710] Chr14:103340447 [GRCh38]
Chr14:103806784 [GRCh37]
Chr14:102876537 [NCBI36]
Chr14:14q32.32		 not provided
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1 copy number loss See cases [RCV000136893] Chr14:103003736..103557569 [GRCh38]
Chr14:103470073..104023906 [GRCh37]
Chr14:102539826..103093659 [NCBI36]
Chr14:14q32.32-32.33		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3 copy number gain See cases [RCV000143756] Chr14:103332197..104435594 [GRCh38]
Chr14:103798534..104901931 [GRCh37]
Chr14:102868287..103972976 [NCBI36]
Chr14:14q32.32-32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103566945-104053697)x1 copy number loss See cases [RCV000446810] Chr14:103566945..104053697 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic|uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1 copy number loss See cases [RCV000448868] Chr14:103390060..104436909 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001969.5(EIF5):c.464A>G (p.Lys155Arg) single nucleotide variant not specified [RCV004289407] Chr14:103338351 [GRCh38]
Chr14:103804688 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001969.5(EIF5):c.745-8C>T single nucleotide variant not provided [RCV000886844] Chr14:103339164 [GRCh38]
Chr14:103805501 [GRCh37]
Chr14:14q32.32		 benign
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33		 likely pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_001969.5(EIF5):c.1192G>C (p.Asp398His) single nucleotide variant not specified [RCV004324432] Chr14:103340547 [GRCh38]
Chr14:103806884 [GRCh37]
Chr14:14q32.32		 uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001969.5(EIF5):c.1195G>A (p.Glu399Lys) single nucleotide variant not specified [RCV004300506] Chr14:103340550 [GRCh38]
Chr14:103806887 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.9:g.102573453_103575949del deletion Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] Chr14:102573453..103575949 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001969.5(EIF5):c.521C>T (p.Ser174Phe) single nucleotide variant not specified [RCV004174923] Chr14:103338408 [GRCh38]
Chr14:103804745 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.41A>G (p.Tyr14Cys) single nucleotide variant not specified [RCV004244028] Chr14:103335901 [GRCh38]
Chr14:103802238 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.1103C>G (p.Ala368Gly) single nucleotide variant not specified [RCV004143867] Chr14:103340458 [GRCh38]
Chr14:103806795 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.424C>T (p.Leu142Phe) single nucleotide variant not specified [RCV004069635] Chr14:103337212 [GRCh38]
Chr14:103803549 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.369A>C (p.Lys123Asn) single nucleotide variant not specified [RCV004281189] Chr14:103337157 [GRCh38]
Chr14:103803494 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.644G>A (p.Arg215Gln) single nucleotide variant not specified [RCV004276309] Chr14:103338793 [GRCh38]
Chr14:103805130 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.1064C>G (p.Ser355Trp) single nucleotide variant not specified [RCV004256291] Chr14:103339796 [GRCh38]
Chr14:103806133 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.1188T>A (p.Asp396Glu) single nucleotide variant not specified [RCV004272092] Chr14:103340543 [GRCh38]
Chr14:103806880 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_001969.5(EIF5):c.299C>G (p.Pro100Arg) single nucleotide variant not specified [RCV004363913] Chr14:103336821 [GRCh38]
Chr14:103803158 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001969.5(EIF5):c.571C>T (p.Pro191Ser) single nucleotide variant not specified [RCV004379983] Chr14:103338458 [GRCh38]
Chr14:103804795 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001969.5(EIF5):c.560A>G (p.Glu187Gly) single nucleotide variant not specified [RCV004379981] Chr14:103338447 [GRCh38]
Chr14:103804784 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.568C>A (p.Pro190Thr) single nucleotide variant not specified [RCV004379982] Chr14:103338455 [GRCh38]
Chr14:103804792 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.607T>A (p.Trp203Arg) single nucleotide variant not specified [RCV004379984] Chr14:103338756 [GRCh38]
Chr14:103805093 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.850C>A (p.Leu284Ile) single nucleotide variant not specified [RCV004379985] Chr14:103339277 [GRCh38]
Chr14:103805614 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_001969.5(EIF5):c.776C>G (p.Ser259Cys) single nucleotide variant not specified [RCV004622695] Chr14:103339203 [GRCh38]
Chr14:103805540 [GRCh37]
Chr14:14q32.32		 uncertain significance
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5035
Count of miRNA genes:1213
Interacting mature miRNAs:1552
Transcripts:ENST00000216554, ENST00000392715, ENST00000558265, ENST00000558316, ENST00000558506, ENST00000558551, ENST00000558800, ENST00000559011, ENST00000559130, ENST00000559249, ENST00000559532, ENST00000559923, ENST00000560200, ENST00000560338, ENST00000560763, ENST00000560877, ENST00000561023, ENST00000561325, ENST00000561380, ENST00000561406, ENST00000561439
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597338863GWAS1434937_Heducational attainment QTL GWAS1434937 (human)5e-08educational attainment14103344629103344630Human
597352963GWAS1449037_Hbody height QTL GWAS1449037 (human)4e-22body height (VT:0001253)body height (CMO:0000106)14103344844103344845Human

Markers in Region
WI-18248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,808,767 - 103,808,868UniSTSGRCh37
Build 3614102,878,520 - 102,878,621RGDNCBI36
Celera1483,862,947 - 83,863,048RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,986,962 - 83,987,063UniSTS
GeneMap99-GB4 RH Map14281.46UniSTS
Whitehead-RH Map14362.4UniSTS
NCBI RH Map141111.9UniSTS
RH48354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,808,066 - 103,808,205UniSTSGRCh37
Build 3614102,877,819 - 102,877,958RGDNCBI36
Celera1483,862,243 - 83,862,382RGD
Cytogenetic Map14q32.32UniSTS
HuRef2029,573,285 - 29,573,426UniSTS
HuRef1483,986,261 - 83,986,400UniSTS
GeneMap99-GB4 RH Map14279.88UniSTS
NCBI RH Map141110.8UniSTS
D14S1233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,811,075 - 103,811,325UniSTSGRCh37
Build 3614102,880,828 - 102,881,078RGDNCBI36
Celera1483,865,255 - 83,865,505RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,989,270 - 83,989,520UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
Whitehead-RH Map14362.4UniSTS
NCBI RH Map141124.5UniSTS
G60074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,811,091 - 103,811,318UniSTSGRCh37
Build 3614102,880,844 - 102,881,071RGDNCBI36
Celera1483,865,271 - 83,865,498RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,989,286 - 83,989,513UniSTS
TNG Radiation Hybrid Map1441906.0UniSTS
D14S640E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,808,524 - 103,808,681UniSTSGRCh37
Build 3614102,878,277 - 102,878,434RGDNCBI36
Celera1483,862,704 - 83,862,861RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,986,719 - 83,986,876UniSTS
RH44070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,809,229 - 103,809,374UniSTSGRCh37
Build 3614102,878,982 - 102,879,127RGDNCBI36
Celera1483,863,409 - 83,863,554RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,987,424 - 83,987,569UniSTS
GeneMap99-GB4 RH Map14279.88UniSTS
NCBI RH Map141107.7UniSTS
D14S692E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,811,094 - 103,811,236UniSTSGRCh37
Build 3614102,880,847 - 102,880,989RGDNCBI36
Celera1483,865,274 - 83,865,416RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,989,289 - 83,989,431UniSTS
GeneMap99-GB4 RH Map14281.99UniSTS
NCBI RH Map141108.5UniSTS
WI-19954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,809,132 - 103,809,378UniSTSGRCh37
Build 3614102,878,885 - 102,879,131RGDNCBI36
Celera1483,863,312 - 83,863,558RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,987,327 - 83,987,573UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
Whitehead-RH Map14362.4UniSTS
NCBI RH Map141124.5UniSTS
A008J11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,811,098 - 103,811,214UniSTSGRCh37
Build 3614102,880,851 - 102,880,967RGDNCBI36
Celera1483,865,278 - 83,865,394RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,989,293 - 83,989,409UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
NCBI RH Map141117.3UniSTS
D14S908  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.32UniSTS
HuRef2029,574,628 - 29,574,699UniSTS
HuRef1483,987,498 - 83,987,569UniSTS
Eif5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,806,800 - 103,807,568UniSTSGRCh37
Celera1483,860,977 - 83,861,745UniSTS
HuRef1483,984,995 - 83,985,763UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4973 1726 2351 5 623 1951 465 2269 7303 6470 53 3734 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK026933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF979642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI459720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX429104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB458085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000216554   ⟹   ENSP00000216554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,237 - 103,345,025 (+)Ensembl
Ensembl Acc Id: ENST00000392715   ⟹   ENSP00000376477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,861 - 103,342,640 (+)Ensembl
Ensembl Acc Id: ENST00000558265   ⟹   ENSP00000453856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,392 - 103,338,750 (+)Ensembl
Ensembl Acc Id: ENST00000558316   ⟹   ENSP00000453396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,387 - 103,337,227 (+)Ensembl
Ensembl Acc Id: ENST00000558506   ⟹   ENSP00000453743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,949 - 103,343,228 (+)Ensembl
Ensembl Acc Id: ENST00000558551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,335,481 - 103,336,886 (+)Ensembl
Ensembl Acc Id: ENST00000558800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,340,404 - 103,341,356 (+)Ensembl
Ensembl Acc Id: ENST00000559011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,338,177 - 103,338,824 (+)Ensembl
Ensembl Acc Id: ENST00000559130   ⟹   ENSP00000452615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,894 - 103,336,728 (+)Ensembl
Ensembl Acc Id: ENST00000559249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,189 - 103,336,178 (+)Ensembl
Ensembl Acc Id: ENST00000559532   ⟹   ENSP00000453468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,896 - 103,336,849 (+)Ensembl
Ensembl Acc Id: ENST00000559923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,336,764 - 103,337,737 (+)Ensembl
Ensembl Acc Id: ENST00000560200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,387 - 103,337,227 (+)Ensembl
Ensembl Acc Id: ENST00000560338   ⟹   ENSP00000453633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,192 - 103,336,825 (+)Ensembl
Ensembl Acc Id: ENST00000560763   ⟹   ENSP00000452636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,237 - 103,336,117 (+)Ensembl
Ensembl Acc Id: ENST00000560877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,333,544 - 103,335,844 (+)Ensembl
Ensembl Acc Id: ENST00000561023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,336,685 - 103,338,348 (+)Ensembl
Ensembl Acc Id: ENST00000561325   ⟹   ENSP00000452883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,334,803 - 103,336,849 (+)Ensembl
Ensembl Acc Id: ENST00000561380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,338,735 - 103,340,561 (+)Ensembl
Ensembl Acc Id: ENST00000561406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,340,970 - 103,342,386 (+)Ensembl
Ensembl Acc Id: ENST00000561439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,336,506 - 103,338,851 (+)Ensembl
RefSeq Acc Id: NM_001969   ⟹   NP_001960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,334,237 - 103,345,025 (+)NCBI
GRCh3714103,800,339 - 103,811,362 (+)NCBI
Build 3614102,870,246 - 102,881,115 (+)NCBI Archive
HuRef1483,978,717 - 83,989,557 (+)NCBI
CHM1_114103,738,116 - 103,749,143 (+)NCBI
T2T-CHM13v2.01497,570,092 - 97,580,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_183004   ⟹   NP_892116
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,334,888 - 103,345,025 (+)NCBI
GRCh3714103,800,339 - 103,811,362 (+)NCBI
Build 3614102,870,989 - 102,881,115 (+)NCBI Archive
HuRef1483,978,717 - 83,989,557 (+)NCBI
CHM1_114103,738,981 - 103,749,143 (+)NCBI
T2T-CHM13v2.01497,570,749 - 97,580,884 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001960   ⟸   NM_001969
- UniProtKB: P55010 (UniProtKB/Swiss-Prot),   Q9H5N2 (UniProtKB/Swiss-Prot),   Q53XB3 (UniProtKB/Swiss-Prot),   Q9UG48 (UniProtKB/Swiss-Prot),   Q6IBU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_892116   ⟸   NM_183004
- UniProtKB: P55010 (UniProtKB/Swiss-Prot),   Q9H5N2 (UniProtKB/Swiss-Prot),   Q53XB3 (UniProtKB/Swiss-Prot),   Q9UG48 (UniProtKB/Swiss-Prot),   Q6IBU0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000453856   ⟸   ENST00000558265
Ensembl Acc Id: ENSP00000453743   ⟸   ENST00000558506
Ensembl Acc Id: ENSP00000453396   ⟸   ENST00000558316
Ensembl Acc Id: ENSP00000216554   ⟸   ENST00000216554
Ensembl Acc Id: ENSP00000453468   ⟸   ENST00000559532
Ensembl Acc Id: ENSP00000452615   ⟸   ENST00000559130
Ensembl Acc Id: ENSP00000453633   ⟸   ENST00000560338
Ensembl Acc Id: ENSP00000452636   ⟸   ENST00000560763
Ensembl Acc Id: ENSP00000452883   ⟸   ENST00000561325
Ensembl Acc Id: ENSP00000376477   ⟸   ENST00000392715
Protein Domains
Translation initiation factor IF2/IF5   W2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55010-F1-model_v2 AlphaFold P55010 1-431 view protein structure

Promoters
RGD ID:6791420
Promoter ID:HG_KWN:20314
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001969,   NM_183004,   UC001YMR.1,   UC001YMS.1,   UC001YMU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614102,869,756 - 102,871,822 (+)MPROMDB
RGD ID:6851664
Promoter ID:EP73634
Type:initiation region
Name:HS_EIF5
Description:Eukaryotic translation initiation factor 5.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 3614102,870,327 - 102,870,387EPD
RGD ID:7228701
Promoter ID:EPDNEW_H20096
Type:initiation region
Name:EIF5_1
Description:eukaryotic translation initiation factor 5
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
GRCh3814103,334,237 - 103,334,297EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3299 AgrOrtholog
COSMIC EIF5 COSMIC
Ensembl Genes ENSG00000100664 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216554 ENTREZGENE
  ENST00000216554.8 UniProtKB/Swiss-Prot
  ENST00000392715 ENTREZGENE
  ENST00000392715.6 UniProtKB/Swiss-Prot
  ENST00000558265.5 UniProtKB/TrEMBL
  ENST00000558316.5 UniProtKB/TrEMBL
  ENST00000558506.1 UniProtKB/Swiss-Prot
  ENST00000559130.5 UniProtKB/TrEMBL
  ENST00000559532.5 UniProtKB/TrEMBL
  ENST00000560338.5 UniProtKB/TrEMBL
  ENST00000560763.5 UniProtKB/TrEMBL
  ENST00000561325.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.25.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.30.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100664 GTEx
HGNC ID HGNC:3299 ENTREZGENE
Human Proteome Map EIF5 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF2/IF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_init_fac_IF2/IF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_init_fac_IF2/IF5_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_init_fac_IF2/IF5_Zn-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  W2_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1983 UniProtKB/Swiss-Prot
NCBI Gene 1983 ENTREZGENE
OMIM 601710 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam eIF-5_eIF-2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF02020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27725 PharmGKB
PROSITE PS51363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART eIF2B_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  eIF5C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100966 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF75689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0YK11_HUMAN UniProtKB/TrEMBL
  H0YK29_HUMAN UniProtKB/TrEMBL
  H0YLZ1_HUMAN UniProtKB/TrEMBL
  H0YM54_HUMAN UniProtKB/TrEMBL
  H0YMJ8_HUMAN UniProtKB/TrEMBL
  H0YN40_HUMAN UniProtKB/TrEMBL
  IF5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05DF3_HUMAN UniProtKB/TrEMBL
  Q32Q19_HUMAN UniProtKB/TrEMBL
  Q53XB3 ENTREZGENE
  Q6IBU0 ENTREZGENE, UniProtKB/TrEMBL
  Q9H5N2 ENTREZGENE
  Q9UG48 ENTREZGENE
UniProt Secondary Q53XB3 UniProtKB/Swiss-Prot
  Q9H5N2 UniProtKB/Swiss-Prot
  Q9UG48 UniProtKB/Swiss-Prot