EEF1D (eukaryotic translation elongation factor 1 delta) - Rat Genome Database

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Gene: EEF1D (eukaryotic translation elongation factor 1 delta) Homo sapiens
Analyze
Symbol: EEF1D
Name: eukaryotic translation elongation factor 1 delta
RGD ID: 1323465
HGNC Page HGNC
Description: Exhibits DNA binding activity; activating transcription factor binding activity; and heat shock protein binding activity. Involved in cellular response to ionizing radiation; mRNA transcription; and regulation of cell death. Localizes to cytosol; fibrillar center; and nucleoplasm. Colocalizes with endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: antigen NY-CO-4; EF-1-delta; EF-1D; EF1D; elongation factor 1-delta; eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein); FLJ20897; FP1047; guanine nucleotide exchange protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: EEF1DP1   EEF1DP2   EEF1DP3   EEF1DP4   EEF1DP5   EEF1DP6   EEF1DP7   EEF1DP8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,579,697 - 143,599,541 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,579,728 - 143,597,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,661,898 - 144,679,585 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,733,041 - 144,750,726 (-)NCBINCBI36hg18NCBI36
Build 348144,733,040 - 144,750,726NCBI
Celera8140,972,129 - 140,990,084 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,913,388 - 139,931,374 (-)NCBIHuRef
CHM1_18144,702,015 - 144,719,993 (-)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

Cellular Component

References

Additional References at PubMed
PMID:2061327   PMID:3169261   PMID:8051108   PMID:8125298   PMID:8168075   PMID:8294461   PMID:8334168   PMID:8743958   PMID:8889548   PMID:9353277   PMID:9407120   PMID:9514931  
PMID:9568107   PMID:9610721   PMID:9677419   PMID:10094407   PMID:10368288   PMID:10567582   PMID:11829477   PMID:12210501   PMID:12477932   PMID:12551973   PMID:12761501   PMID:12773547  
PMID:12975309   PMID:14623968   PMID:14702039   PMID:14744259   PMID:15062873   PMID:15146197   PMID:15189156   PMID:15199388   PMID:15489334   PMID:15604093   PMID:15867431   PMID:16097034  
PMID:16159877   PMID:16169070   PMID:16189514   PMID:16341674   PMID:16344560   PMID:16807684   PMID:16968546   PMID:17081983   PMID:17353931   PMID:17500595   PMID:17997862   PMID:19135240  
PMID:19338310   PMID:19380743   PMID:19454010   PMID:19738201   PMID:20195357   PMID:20514991   PMID:21044950   PMID:21145461   PMID:21244100   PMID:21319273   PMID:21516116   PMID:21597468  
PMID:21630459   PMID:21633900   PMID:21873635   PMID:21936567   PMID:21988832   PMID:21994455   PMID:22113938   PMID:22145905   PMID:22268729   PMID:22623428   PMID:22721673   PMID:22863883  
PMID:22939629   PMID:23125841   PMID:23178491   PMID:23184937   PMID:23402259   PMID:23463506   PMID:23798571   PMID:24163370   PMID:24457600   PMID:24711643   PMID:25147182   PMID:25416956  
PMID:25437307   PMID:25468996   PMID:25609649   PMID:25798074   PMID:25921289   PMID:25959826   PMID:25963833   PMID:26170170   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26499835  
PMID:26603838   PMID:26641092   PMID:26823560   PMID:26831064   PMID:27182664   PMID:27462432   PMID:27503909   PMID:27576135   PMID:27591049   PMID:27609421   PMID:27684187   PMID:28302793  
PMID:28443643   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28986522   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29331416   PMID:29467282   PMID:29491746  
PMID:29507755   PMID:29509190   PMID:29510727   PMID:29791485   PMID:29845934   PMID:29859926   PMID:29955894   PMID:30021884   PMID:30196744   PMID:30224337   PMID:30258100   PMID:30425250  
PMID:30442662   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30649429   PMID:30711629   PMID:30787422   PMID:30833792   PMID:30948266   PMID:30997501   PMID:31046837   PMID:31059266  
PMID:31091453   PMID:31180492   PMID:31239290   PMID:31515488   PMID:31536960   PMID:31586073   PMID:31751430   PMID:31796584   PMID:31995728   PMID:32129710   PMID:32296183   PMID:32416067  
PMID:32814053   PMID:33029523   PMID:33087462  


Genomics

Comparative Map Data
EEF1D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,579,697 - 143,599,541 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,579,728 - 143,597,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,661,898 - 144,679,585 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,733,041 - 144,750,726 (-)NCBINCBI36hg18NCBI36
Build 348144,733,040 - 144,750,726NCBI
Celera8140,972,129 - 140,990,084 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,913,388 - 139,931,374 (-)NCBIHuRef
CHM1_18144,702,015 - 144,719,993 (-)NCBICHM1_1
Eef1d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,766,645 - 75,781,430 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,766,054 - 75,781,405 (-)Ensembl
GRCm381575,894,796 - 75,909,784 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,894,205 - 75,909,556 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,725,230 - 75,739,770 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,722,055 - 75,736,595 (-)NCBImm8
Celera1577,395,780 - 77,410,351 (-)NCBICelera
Cytogenetic Map15D3NCBI
Eef1d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,581,930 - 107,596,735 (-)NCBI
Rnor_6.0 Ensembl7116,928,265 - 116,936,674 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,928,264 - 116,942,981 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,820,231 - 116,835,552 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,870,558 - 113,879,376 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,904,788 - 113,913,606 (-)NCBI
Celera7103,938,928 - 103,947,339 (-)NCBICelera
Cytogenetic Map7q34NCBI
Eef1d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554542,284,892 - 2,299,169 (-)NCBIChiLan1.0ChiLan1.0
EEF1D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,348,045 - 143,365,497 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,340,928 - 143,362,971 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,333,100 - 140,350,955 (-)NCBIMhudiblu_PPA_v0panPan3
EEF1D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,240,405 - 37,247,603 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,239,150 - 37,255,958 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,196,984 - 37,210,347 (-)NCBI
ROS_Cfam_1.01337,712,322 - 37,725,681 (-)NCBI
UMICH_Zoey_3.11337,386,658 - 37,399,976 (-)NCBI
UNSW_CanFamBas_1.01337,503,589 - 37,516,922 (-)NCBI
UU_Cfam_GSD_1.01337,984,799 - 37,998,156 (-)NCBI
Eef1d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,112,915 - 1,127,546 (+)NCBI
SpeTri2.0NW_0049364708,538,899 - 8,553,645 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EEF1D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4969,524 - 986,750 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14969,532 - 982,250 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,038,509 - 1,047,368 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EEF1D
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,800,115 - 137,818,264 (-)NCBI
ChlSab1.1 Ensembl8137,799,428 - 137,813,120 (-)Ensembl
Vero_WHO_p1.0NW_0236660392,075,527 - 2,093,549 (+)NCBI
Eef1d
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,148,640 - 13,165,259 (+)NCBI

Position Markers
RH80155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,671,876 - 144,672,092UniSTSGRCh37
Build 368144,743,019 - 144,743,235RGDNCBI36
Celera8140,982,111 - 140,982,327RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,923,401 - 139,923,617UniSTS
GeneMap99-GB4 RH Map8564.85UniSTS
SHGC-132015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,181,798 - 14,182,113UniSTSGRCh37
GRCh378144,661,901 - 144,662,695UniSTSGRCh37
Build 361914,042,798 - 14,043,113RGDNCBI36
Celera1914,075,600 - 14,075,915RGD
Celera8140,972,132 - 140,972,926UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q24.3UniSTS
HuRef1913,753,456 - 13,753,771UniSTS
TNG Radiation Hybrid Map933812.0UniSTS
D19S994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,181,795 - 14,182,070UniSTSGRCh37
GRCh378144,661,944 - 144,662,699UniSTSGRCh37
Build 361914,042,795 - 14,043,070RGDNCBI36
Celera8140,972,175 - 140,972,930UniSTS
Celera1914,075,597 - 14,075,872RGD
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q24.3UniSTS
HuRef1913,753,453 - 13,753,728UniSTS
HuRef8139,913,465 - 139,914,220UniSTS
GeneMap99-G3 RH Map19423.0UniSTS
RH79617  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.3UniSTS
HuRef8139,923,430 - 139,923,617UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:17603
Count of miRNA genes:1144
Interacting mature miRNAs:1483
Transcripts:ENST00000317198, ENST00000395119, ENST00000419152, ENST00000423316, ENST00000442189, ENST00000524397, ENST00000524624, ENST00000524883, ENST00000524900, ENST00000525223, ENST00000525261, ENST00000525695, ENST00000526133, ENST00000526135, ENST00000526340, ENST00000526710, ENST00000526786, ENST00000526838, ENST00000527741, ENST00000528303, ENST00000528382, ENST00000528519, ENST00000528610, ENST00000529007, ENST00000529272, ENST00000529516, ENST00000529576, ENST00000529832, ENST00000530109, ENST00000530191, ENST00000530306, ENST00000530445, ENST00000530545, ENST00000530616, ENST00000530848, ENST00000531218, ENST00000531281, ENST00000531621, ENST00000531670, ENST00000531770, ENST00000531931, ENST00000531953, ENST00000532400, ENST00000532543, ENST00000532596, ENST00000532741, ENST00000533204, ENST00000533494, ENST00000533749, ENST00000533833, ENST00000534232, ENST00000534377, ENST00000534380, ENST00000534475, ENST00000534804
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.


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 16
Medium 2439 2902 1711 609 1935 450 4357 2127 3501 416 1443 1613 175 1 1204 2788 5 2
Low 89 15 15 16 15 70 233 3 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI366989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG482145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG748894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI667117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ064320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ083927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ686171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF128478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN424074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN424083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN424105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX787126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA948687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA977213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z21507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317198   ⟹   ENSP00000317399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,697 - 143,597,388 (-)Ensembl
RefSeq Acc Id: ENST00000395119   ⟹   ENSP00000378551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,597,679 (-)Ensembl
RefSeq Acc Id: ENST00000419152   ⟹   ENSP00000388261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,697 - 143,597,675 (-)Ensembl
RefSeq Acc Id: ENST00000423316   ⟹   ENSP00000410059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,697 - 143,597,675 (-)Ensembl
RefSeq Acc Id: ENST00000442189   ⟹   ENSP00000391944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000524397   ⟹   ENSP00000437276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,010 - 143,597,404 (-)Ensembl
RefSeq Acc Id: ENST00000524624   ⟹   ENSP00000435697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,736 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000524883   ⟹   ENSP00000432941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,540 - 143,590,893 (-)Ensembl
RefSeq Acc Id: ENST00000524900   ⟹   ENSP00000431307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,894 - 143,597,411 (-)Ensembl
RefSeq Acc Id: ENST00000525223   ⟹   ENSP00000431613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,586,729 - 143,589,316 (-)Ensembl
RefSeq Acc Id: ENST00000525261   ⟹   ENSP00000431285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,838 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000525695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,586,032 - 143,597,381 (-)Ensembl
RefSeq Acc Id: ENST00000526133   ⟹   ENSP00000435617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,972 - 143,597,111 (-)Ensembl
RefSeq Acc Id: ENST00000526135   ⟹   ENSP00000436718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,922 - 143,592,893 (-)Ensembl
RefSeq Acc Id: ENST00000526340   ⟹   ENSP00000435477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,586,219 - 143,597,393 (-)Ensembl
RefSeq Acc Id: ENST00000526710   ⟹   ENSP00000434389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,181 - 143,597,442 (-)Ensembl
RefSeq Acc Id: ENST00000526786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,389 - 143,597,388 (-)Ensembl
RefSeq Acc Id: ENST00000526838   ⟹   ENSP00000436507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,597,413 (-)Ensembl
RefSeq Acc Id: ENST00000527741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,584,251 (-)Ensembl
RefSeq Acc Id: ENST00000528303   ⟹   ENSP00000433255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,590,018 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000528382   ⟹   ENSP00000436880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,079 - 143,586,817 (-)Ensembl
RefSeq Acc Id: ENST00000528519   ⟹   ENSP00000436251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,610 - 143,592,169 (-)Ensembl
RefSeq Acc Id: ENST00000528610   ⟹   ENSP00000431763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,597,425 (-)Ensembl
RefSeq Acc Id: ENST00000529007   ⟹   ENSP00000436045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,729 - 143,597,387 (-)Ensembl
RefSeq Acc Id: ENST00000529272   ⟹   ENSP00000434872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,597,744 (-)Ensembl
RefSeq Acc Id: ENST00000529516   ⟹   ENSP00000431742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,642 - 143,597,397 (-)Ensembl
RefSeq Acc Id: ENST00000529576   ⟹   ENSP00000435015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,580,637 (-)Ensembl
RefSeq Acc Id: ENST00000529832   ⟹   ENSP00000437223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,644 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000530109   ⟹   ENSP00000435117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,580,740 (-)Ensembl
RefSeq Acc Id: ENST00000530191   ⟹   ENSP00000436542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,506 - 143,597,402 (-)Ensembl
RefSeq Acc Id: ENST00000530306   ⟹   ENSP00000433520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,695 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000530445   ⟹   ENSP00000436933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,620 - 143,587,564 (-)Ensembl
RefSeq Acc Id: ENST00000530545   ⟹   ENSP00000431401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,830 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000530616   ⟹   ENSP00000431833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,513 - 143,589,222 (-)Ensembl
RefSeq Acc Id: ENST00000530848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,564 - 143,597,400 (-)Ensembl
RefSeq Acc Id: ENST00000531218   ⟹   ENSP00000434448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,522 - 143,597,380 (-)Ensembl
RefSeq Acc Id: ENST00000531281   ⟹   ENSP00000432221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,311 - 143,596,129 (-)Ensembl
RefSeq Acc Id: ENST00000531621   ⟹   ENSP00000432429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,729 - 143,597,400 (-)Ensembl
RefSeq Acc Id: ENST00000531670   ⟹   ENSP00000433698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,545 - 143,596,345 (-)Ensembl
RefSeq Acc Id: ENST00000531770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,592,654 - 143,597,414 (-)Ensembl
RefSeq Acc Id: ENST00000531931   ⟹   ENSP00000437117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,586,740 - 143,597,413 (-)Ensembl
RefSeq Acc Id: ENST00000531953   ⟹   ENSP00000435719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,934 - 143,597,105 (-)Ensembl
RefSeq Acc Id: ENST00000532400   ⟹   ENSP00000433784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,722 - 143,597,396 (-)Ensembl
RefSeq Acc Id: ENST00000532543   ⟹   ENSP00000434123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,586,729 - 143,596,754 (-)Ensembl
RefSeq Acc Id: ENST00000532596   ⟹   ENSP00000432919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,511 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000532741   ⟹   ENSP00000434070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,590,460 (-)Ensembl
RefSeq Acc Id: ENST00000533204   ⟹   ENSP00000434691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,506 - 143,597,394 (-)Ensembl
RefSeq Acc Id: ENST00000533494   ⟹   ENSP00000433412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,613 - 143,597,365 (-)Ensembl
RefSeq Acc Id: ENST00000533749   ⟹   ENSP00000431933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,581,079 - 143,599,541 (-)Ensembl
RefSeq Acc Id: ENST00000533833   ⟹   ENSP00000432881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,579,728 - 143,597,428 (-)Ensembl
RefSeq Acc Id: ENST00000534232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,663 - 143,597,384 (-)Ensembl
RefSeq Acc Id: ENST00000534377   ⟹   ENSP00000431460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,186 - 143,597,399 (-)Ensembl
RefSeq Acc Id: ENST00000534380   ⟹   ENSP00000433611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,034 - 143,597,362 (-)Ensembl
RefSeq Acc Id: ENST00000534475   ⟹   ENSP00000433398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,988 - 143,597,413 (-)Ensembl
RefSeq Acc Id: ENST00000534804   ⟹   ENSP00000433101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,589,877 - 143,597,415 (-)Ensembl
RefSeq Acc Id: ENST00000618139   ⟹   ENSP00000484536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,580,019 - 143,597,675 (-)Ensembl
RefSeq Acc Id: NM_001130053   ⟹   NP_001123525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130055   ⟹   NP_001123527
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130056   ⟹   NP_001123528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130057   ⟹   NP_001123529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195203   ⟹   NP_001182132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289950   ⟹   NP_001276879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317743   ⟹   NP_001304672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330646   ⟹   NP_001317575
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001960   ⟹   NP_001951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
Build 368144,733,041 - 144,750,726 (-)NCBI Archive
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032378   ⟹   NP_115754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)ENTREZGENE
Build 368144,733,041 - 144,750,726 (-)NCBI Archive
HuRef8139,913,388 - 139,931,374 (-)ENTREZGENE
CHM1_18144,702,015 - 144,719,993 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250820   ⟹   XP_005250877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,592,100 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250823   ⟹   XP_005250880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
GRCh378144,661,867 - 144,679,845 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716519   ⟹   XP_006716582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,592,100 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716520   ⟹   XP_006716583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,592,100 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716522   ⟹   XP_006716585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,592,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716523   ⟹   XP_006716586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,422 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716524   ⟹   XP_006716587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,590,733 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716525   ⟹   XP_006716588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,229 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516905   ⟹   XP_011515207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,422 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516906   ⟹   XP_011515208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,594,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013170   ⟹   XP_016868659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,594,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013171   ⟹   XP_016868660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,415 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013172   ⟹   XP_016868661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,592,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447088   ⟹   XP_024302856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,592,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447089   ⟹   XP_024302857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,579,728 - 143,597,422 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001123525 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123527 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123528 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182132 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276879 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304672 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317575 (Get FASTA)   NCBI Sequence Viewer  
  NP_001951 (Get FASTA)   NCBI Sequence Viewer  
  NP_115754 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250877 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250880 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716582 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716583 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716585 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716586 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716587 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716588 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515207 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515208 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868659 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868660 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868661 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302856 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302857 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH00678 (Get FASTA)   NCBI Sequence Viewer  
  AAH07847 (Get FASTA)   NCBI Sequence Viewer  
  AAH09907 (Get FASTA)   NCBI Sequence Viewer  
  AAH12819 (Get FASTA)   NCBI Sequence Viewer  
  AAH62535 (Get FASTA)   NCBI Sequence Viewer  
  AAH94806 (Get FASTA)   NCBI Sequence Viewer  
  AAP35906 (Get FASTA)   NCBI Sequence Viewer  
  AAQ15199 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89053 (Get FASTA)   NCBI Sequence Viewer  
  BAB14925 (Get FASTA)   NCBI Sequence Viewer  
  BAG36963 (Get FASTA)   NCBI Sequence Viewer  
  BAG56855 (Get FASTA)   NCBI Sequence Viewer  
  CAA79716 (Get FASTA)   NCBI Sequence Viewer  
  EAW82227 (Get FASTA)   NCBI Sequence Viewer  
  EAW82228 (Get FASTA)   NCBI Sequence Viewer  
  EAW82229 (Get FASTA)   NCBI Sequence Viewer  
  EAW82230 (Get FASTA)   NCBI Sequence Viewer  
  EAW82231 (Get FASTA)   NCBI Sequence Viewer  
  EAW82232 (Get FASTA)   NCBI Sequence Viewer  
  EAW82233 (Get FASTA)   NCBI Sequence Viewer  
  EAW82234 (Get FASTA)   NCBI Sequence Viewer  
  EAW82235 (Get FASTA)   NCBI Sequence Viewer  
  P29692 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001123528   ⟸   NM_001130056
- Peptide Label: isoform 4
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182132   ⟸   NM_001195203
- Peptide Label: isoform 5
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001951   ⟸   NM_001960
- Peptide Label: isoform 2
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115754   ⟸   NM_032378
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001123525   ⟸   NM_001130053
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001123527   ⟸   NM_001130055
- Peptide Label: isoform 2
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123529   ⟸   NM_001130057
- Peptide Label: isoform 2
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250880   ⟸   XM_005250823
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250877   ⟸   XM_005250820
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006716588   ⟸   XM_006716525
- Peptide Label: isoform X4
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716585   ⟸   XM_006716522
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716586   ⟸   XM_006716523
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716582   ⟸   XM_006716519
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006716583   ⟸   XM_006716520
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006716587   ⟸   XM_006716524
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276879   ⟸   NM_001289950
- Peptide Label: isoform 2
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515208   ⟸   XM_011516906
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515207   ⟸   XM_011516905
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304672   ⟸   NM_001317743
- Peptide Label: isoform 4
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868659   ⟸   XM_017013170
- Peptide Label: isoform X1
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868660   ⟸   XM_017013171
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868661   ⟸   XM_017013172
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001317575   ⟸   NM_001330646
- Peptide Label: isoform 4
- UniProtKB: P29692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302857   ⟸   XM_024447089
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024302856   ⟸   XM_024447088
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000410059   ⟸   ENST00000423316
RefSeq Acc Id: ENSP00000431401   ⟸   ENST00000530545
RefSeq Acc Id: ENSP00000431833   ⟸   ENST00000530616
RefSeq Acc Id: ENSP00000436933   ⟸   ENST00000530445
RefSeq Acc Id: ENSP00000433520   ⟸   ENST00000530306
RefSeq Acc Id: ENSP00000435117   ⟸   ENST00000530109
RefSeq Acc Id: ENSP00000436542   ⟸   ENST00000530191
RefSeq Acc Id: ENSP00000435719   ⟸   ENST00000531953
RefSeq Acc Id: ENSP00000437117   ⟸   ENST00000531931
RefSeq Acc Id: ENSP00000433698   ⟸   ENST00000531670
RefSeq Acc Id: ENSP00000432429   ⟸   ENST00000531621
RefSeq Acc Id: ENSP00000434448   ⟸   ENST00000531218
RefSeq Acc Id: ENSP00000432221   ⟸   ENST00000531281
RefSeq Acc Id: ENSP00000433784   ⟸   ENST00000532400
RefSeq Acc Id: ENSP00000434070   ⟸   ENST00000532741
RefSeq Acc Id: ENSP00000434123   ⟸   ENST00000532543
RefSeq Acc Id: ENSP00000432919   ⟸   ENST00000532596
RefSeq Acc Id: ENSP00000434691   ⟸   ENST00000533204
RefSeq Acc Id: ENSP00000431933   ⟸   ENST00000533749
RefSeq Acc Id: ENSP00000433412   ⟸   ENST00000533494
RefSeq Acc Id: ENSP00000432881   ⟸   ENST00000533833
RefSeq Acc Id: ENSP00000433398   ⟸   ENST00000534475
RefSeq Acc Id: ENSP00000433611   ⟸   ENST00000534380
RefSeq Acc Id: ENSP00000431460   ⟸   ENST00000534377
RefSeq Acc Id: ENSP00000433101   ⟸   ENST00000534804
RefSeq Acc Id: ENSP00000391944   ⟸   ENST00000442189
RefSeq Acc Id: ENSP00000388261   ⟸   ENST00000419152
RefSeq Acc Id: ENSP00000432941   ⟸   ENST00000524883
RefSeq Acc Id: ENSP00000435697   ⟸   ENST00000524624
RefSeq Acc Id: ENSP00000431307   ⟸   ENST00000524900
RefSeq Acc Id: ENSP00000437276   ⟸   ENST00000524397
RefSeq Acc Id: ENSP00000484536   ⟸   ENST00000618139
RefSeq Acc Id: ENSP00000431613   ⟸   ENST00000525223
RefSeq Acc Id: ENSP00000431285   ⟸   ENST00000525261
RefSeq Acc Id: ENSP00000436718   ⟸   ENST00000526135
RefSeq Acc Id: ENSP00000435617   ⟸   ENST00000526133
RefSeq Acc Id: ENSP00000435477   ⟸   ENST00000526340
RefSeq Acc Id: ENSP00000436507   ⟸   ENST00000526838
RefSeq Acc Id: ENSP00000434389   ⟸   ENST00000526710
RefSeq Acc Id: ENSP00000378551   ⟸   ENST00000395119
RefSeq Acc Id: ENSP00000317399   ⟸   ENST00000317198
RefSeq Acc Id: ENSP00000436880   ⟸   ENST00000528382
RefSeq Acc Id: ENSP00000433255   ⟸   ENST00000528303
RefSeq Acc Id: ENSP00000431763   ⟸   ENST00000528610
RefSeq Acc Id: ENSP00000436251   ⟸   ENST00000528519
RefSeq Acc Id: ENSP00000435015   ⟸   ENST00000529576
RefSeq Acc Id: ENSP00000431742   ⟸   ENST00000529516
RefSeq Acc Id: ENSP00000437223   ⟸   ENST00000529832
RefSeq Acc Id: ENSP00000434872   ⟸   ENST00000529272
RefSeq Acc Id: ENSP00000436045   ⟸   ENST00000529007
Protein Domains
EF-1_beta_acid   EF1_GNE

Promoters
RGD ID:7214365
Promoter ID:EPDNEW_H12928
Type:initiation region
Name:EEF1D_1
Description:eukaryotic translation elongation factor 1 delta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12929  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,597,413 - 143,597,473EPDNEW
RGD ID:7214367
Promoter ID:EPDNEW_H12929
Type:initiation region
Name:EEF1D_2
Description:eukaryotic translation elongation factor 1 delta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12928  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,597,672 - 143,597,732EPDNEW
RGD ID:6806620
Promoter ID:HG_KWN:62269
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003YYP.1,   UC003YYQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,742,336 - 144,744,762 (-)MPROMDB
RGD ID:6807062
Promoter ID:HG_KWN:62271
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_001130053,   NM_001130054,   NM_001130055,   NM_001130056,   NM_001130057,   NM_001960,   NM_032378,   NM_032862,   UC003YYU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,749,286 - 144,754,127 (+)MPROMDB
RGD ID:6852670
Promoter ID:EP74147
Type:initiation region
Name:HS_EEF1D
Description:Eukaryotic translation elongation factor 1 delta (guaninenucleotide exchange protein).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,750,717 - 144,750,777EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_145201.5(NAPRT):c.838C>T (p.Pro280Ser) single nucleotide variant Malignant melanoma [RCV000068194] Chr8:143576689 [GRCh38]
Chr8:144658859 [GRCh37]
Chr8:144730002 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_001960.6(EEF1D):c.-7-2282G>A single nucleotide variant Autosomal recessive non-syndromic intellectual disability [RCV000758205] Chr8:143589134 [GRCh38]
Chr8:144671304 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_032378.6(EEF1D):c.1905+1G>A single nucleotide variant Inborn genetic diseases [RCV000624787] Chr8:143580011 [GRCh38]
Chr8:144662181 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144685178)x3 copy number gain not provided [RCV000747944] Chr8:144641370..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144694067)x3 copy number gain not provided [RCV000747945] Chr8:144641370..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144695499)x3 copy number gain not provided [RCV000747946] Chr8:144641370..144695499 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641949-144688309)x3 copy number gain not provided [RCV000747947] Chr8:144641949..144688309 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144685178)x3 copy number gain not provided [RCV000747950] Chr8:144642054..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144686512)x3 copy number gain not provided [RCV000747951] Chr8:144642054..144686512 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642918-144685178)x3 copy number gain not provided [RCV000747953] Chr8:144642918..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644648-144689146)x3 copy number gain not provided [RCV000747954] Chr8:144644648..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644686-144672215)x3 copy number gain not provided [RCV000747955] Chr8:144644686..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644970-144672215)x3 copy number gain not provided [RCV000747956] Chr8:144644970..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144658716-144685178)x3 copy number gain not provided [RCV000747957] Chr8:144658716..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144658716-144689146)x3 copy number gain not provided [RCV000747958] Chr8:144658716..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144672047-144682311)x0 copy number loss not provided [RCV000747959] Chr8:144672047..144682311 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144679707-144682311)x1 copy number loss not provided [RCV000747960] Chr8:144679707..144682311 [GRCh37]
Chr8:8q24.3
benign
NM_032378.6(EEF1D):c.404A>G (p.Gln135Arg) single nucleotide variant not provided [RCV000969226] Chr8:143589678 [GRCh38]
Chr8:144671848 [GRCh37]
Chr8:8q24.3
benign
NM_032378.6(EEF1D):c.347C>T (p.Ser116Leu) single nucleotide variant not provided [RCV000969227] Chr8:143589735 [GRCh38]
Chr8:144671905 [GRCh37]
Chr8:8q24.3
benign
NM_001960.6(EEF1D):c.-7-2663= variation not provided [RCV000971381] Chr8:143589515 [GRCh38]
Chr8:144671685 [GRCh37]
Chr8:8q24.3
benign
NM_032378.6(EEF1D):c.1176C>T (p.Tyr392=) single nucleotide variant not provided [RCV000966207] Chr8:143586768 [GRCh38]
Chr8:144668938 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_032378.6(EEF1D):c.465C>T (p.Ala155=) single nucleotide variant not provided [RCV000893139] Chr8:143589617 [GRCh38]
Chr8:144671787 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_032378.6(EEF1D):c.805G>A (p.Glu269Lys) single nucleotide variant not provided [RCV000888706] Chr8:143589277 [GRCh38]
Chr8:144671447 [GRCh37]
Chr8:8q24.3
likely benign
NM_032378.6(EEF1D):c.297G>A (p.Ala99=) single nucleotide variant not provided [RCV000961160] Chr8:143589785 [GRCh38]
Chr8:144671955 [GRCh37]
Chr8:8q24.3
benign
NM_032378.6(EEF1D):c.205G>A (p.Gly69Ser) single nucleotide variant not provided [RCV000969228] Chr8:143589877 [GRCh38]
Chr8:144672047 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001130053.5(EEF1D):c.1099A>G (p.Met367Val) single nucleotide variant Moyamoya angiopathy [RCV001261788] Chr8:143586845 [GRCh38]
Chr8:144669015 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3211 AgrOrtholog
COSMIC EEF1D COSMIC
Ensembl Genes ENSG00000104529 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000273594 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000317399 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388261 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391944 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410059 UniProtKB/Swiss-Prot
  ENSP00000431285 UniProtKB/TrEMBL
  ENSP00000431307 UniProtKB/TrEMBL
  ENSP00000431401 UniProtKB/TrEMBL
  ENSP00000431460 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431613 UniProtKB/TrEMBL
  ENSP00000431742 UniProtKB/TrEMBL
  ENSP00000431763 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431833 UniProtKB/TrEMBL
  ENSP00000431933 UniProtKB/TrEMBL
  ENSP00000432221 UniProtKB/TrEMBL
  ENSP00000432429 UniProtKB/TrEMBL
  ENSP00000432881 UniProtKB/TrEMBL
  ENSP00000432919 UniProtKB/TrEMBL
  ENSP00000432941 UniProtKB/TrEMBL
  ENSP00000433101 UniProtKB/TrEMBL
  ENSP00000433255 UniProtKB/TrEMBL
  ENSP00000433398 UniProtKB/TrEMBL
  ENSP00000433412 UniProtKB/TrEMBL
  ENSP00000433520 UniProtKB/TrEMBL
  ENSP00000433611 UniProtKB/TrEMBL
  ENSP00000433698 UniProtKB/TrEMBL
  ENSP00000433784 UniProtKB/TrEMBL
  ENSP00000434070 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000434123 UniProtKB/TrEMBL
  ENSP00000434389 UniProtKB/TrEMBL
  ENSP00000434448 UniProtKB/TrEMBL
  ENSP00000434691 UniProtKB/TrEMBL
  ENSP00000434872 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435015 UniProtKB/TrEMBL
  ENSP00000435117 UniProtKB/TrEMBL
  ENSP00000435477 UniProtKB/TrEMBL
  ENSP00000435617 UniProtKB/TrEMBL
  ENSP00000435697 UniProtKB/Swiss-Prot
  ENSP00000435719 UniProtKB/TrEMBL
  ENSP00000436045 UniProtKB/TrEMBL
  ENSP00000436251 UniProtKB/TrEMBL
  ENSP00000436507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436542 UniProtKB/TrEMBL
  ENSP00000436718 UniProtKB/TrEMBL
  ENSP00000436880 UniProtKB/TrEMBL
  ENSP00000436933 UniProtKB/TrEMBL
  ENSP00000437117 UniProtKB/TrEMBL
  ENSP00000437223 UniProtKB/TrEMBL
  ENSP00000437276 UniProtKB/TrEMBL
  ENSP00000477608 UniProtKB/Swiss-Prot
  ENSP00000478271 UniProtKB/TrEMBL
  ENSP00000478340 UniProtKB/Swiss-Prot
  ENSP00000479653 UniProtKB/Swiss-Prot
  ENSP00000480505 UniProtKB/Swiss-Prot
  ENSP00000483527 UniProtKB/Swiss-Prot
  ENSP00000484536 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000487621 UniProtKB/TrEMBL
  ENSP00000487622 UniProtKB/TrEMBL
  ENSP00000487641 UniProtKB/TrEMBL
  ENSP00000487680 UniProtKB/Swiss-Prot
  ENSP00000487710 UniProtKB/TrEMBL
  ENSP00000487713 UniProtKB/TrEMBL
  ENSP00000487745 UniProtKB/TrEMBL
  ENSP00000487777 UniProtKB/TrEMBL
  ENSP00000487871 UniProtKB/TrEMBL
  ENSP00000487890 UniProtKB/TrEMBL
  ENSP00000487932 UniProtKB/TrEMBL
  ENSP00000488005 UniProtKB/TrEMBL
  ENSP00000488026 UniProtKB/Swiss-Prot
  ENSP00000488129 UniProtKB/TrEMBL
  ENSP00000488167 UniProtKB/TrEMBL
  ENSP00000488200 UniProtKB/TrEMBL
  ENSP00000488220 UniProtKB/TrEMBL
  ENSP00000488233 UniProtKB/TrEMBL
  ENSP00000488244 UniProtKB/TrEMBL
  ENSP00000488247 UniProtKB/TrEMBL
  ENSP00000488275 UniProtKB/Swiss-Prot
  ENSP00000488298 UniProtKB/TrEMBL
  ENSP00000488400 UniProtKB/TrEMBL
  ENSP00000488411 UniProtKB/TrEMBL
  ENSP00000488514 UniProtKB/TrEMBL
  ENSP00000488535 UniProtKB/TrEMBL
  ENSP00000488544 UniProtKB/TrEMBL
  ENSP00000488549 UniProtKB/TrEMBL
  ENSP00000488663 UniProtKB/TrEMBL
  ENSP00000488672 UniProtKB/Swiss-Prot
  ENSP00000488681 UniProtKB/TrEMBL
  ENSP00000488733 UniProtKB/TrEMBL
  ENSP00000488738 UniProtKB/TrEMBL
  ENSP00000488795 UniProtKB/TrEMBL
  ENSP00000488901 UniProtKB/TrEMBL
Ensembl Transcript ENST00000317198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395119 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419152 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423316 UniProtKB/Swiss-Prot
  ENST00000442189 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524397 UniProtKB/TrEMBL
  ENST00000524624 UniProtKB/Swiss-Prot
  ENST00000524883 UniProtKB/TrEMBL
  ENST00000524900 UniProtKB/TrEMBL
  ENST00000525223 UniProtKB/TrEMBL
  ENST00000525261 UniProtKB/TrEMBL
  ENST00000526133 UniProtKB/TrEMBL
  ENST00000526135 UniProtKB/TrEMBL
  ENST00000526340 UniProtKB/TrEMBL
  ENST00000526710 UniProtKB/TrEMBL
  ENST00000526838 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528303 UniProtKB/TrEMBL
  ENST00000528382 UniProtKB/TrEMBL
  ENST00000528519 UniProtKB/TrEMBL
  ENST00000528610 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529007 UniProtKB/TrEMBL
  ENST00000529272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529516 UniProtKB/TrEMBL
  ENST00000529576 UniProtKB/TrEMBL
  ENST00000529832 UniProtKB/TrEMBL
  ENST00000530109 UniProtKB/TrEMBL
  ENST00000530191 UniProtKB/TrEMBL
  ENST00000530306 UniProtKB/TrEMBL
  ENST00000530445 UniProtKB/TrEMBL
  ENST00000530545 UniProtKB/TrEMBL
  ENST00000530616 UniProtKB/TrEMBL
  ENST00000531218 UniProtKB/TrEMBL
  ENST00000531281 UniProtKB/TrEMBL
  ENST00000531621 UniProtKB/TrEMBL
  ENST00000531670 UniProtKB/TrEMBL
  ENST00000531931 UniProtKB/TrEMBL
  ENST00000531953 UniProtKB/TrEMBL
  ENST00000532400 UniProtKB/TrEMBL
  ENST00000532543 UniProtKB/TrEMBL
  ENST00000532596 UniProtKB/TrEMBL
  ENST00000532741 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000533204 UniProtKB/TrEMBL
  ENST00000533494 UniProtKB/TrEMBL
  ENST00000533749 UniProtKB/TrEMBL
  ENST00000533833 UniProtKB/TrEMBL
  ENST00000534377 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000534380 UniProtKB/TrEMBL
  ENST00000534475 UniProtKB/TrEMBL
  ENST00000534804 UniProtKB/TrEMBL
  ENST00000614575 UniProtKB/Swiss-Prot
  ENST00000615067 UniProtKB/Swiss-Prot
  ENST00000615698 UniProtKB/Swiss-Prot
  ENST00000618139 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000619144 UniProtKB/Swiss-Prot
  ENST00000619198 UniProtKB/TrEMBL
  ENST00000620155 UniProtKB/Swiss-Prot
  ENST00000631585 UniProtKB/TrEMBL
  ENST00000631650 UniProtKB/TrEMBL
  ENST00000631688 UniProtKB/TrEMBL
  ENST00000631698 UniProtKB/Swiss-Prot
  ENST00000631763 UniProtKB/TrEMBL
  ENST00000631850 UniProtKB/TrEMBL
  ENST00000631863 UniProtKB/TrEMBL
  ENST00000631875 UniProtKB/TrEMBL
  ENST00000632115 UniProtKB/TrEMBL
  ENST00000632162 UniProtKB/TrEMBL
  ENST00000632238 UniProtKB/TrEMBL
  ENST00000632241 UniProtKB/TrEMBL
  ENST00000632402 UniProtKB/TrEMBL
  ENST00000632423 UniProtKB/TrEMBL
  ENST00000632587 UniProtKB/Swiss-Prot
  ENST00000632626 UniProtKB/TrEMBL
  ENST00000632659 UniProtKB/TrEMBL
  ENST00000632675 UniProtKB/Swiss-Prot
  ENST00000632733 UniProtKB/TrEMBL
  ENST00000632965 UniProtKB/Swiss-Prot
  ENST00000633058 UniProtKB/TrEMBL
  ENST00000633090 UniProtKB/TrEMBL
  ENST00000633259 UniProtKB/TrEMBL
  ENST00000633339 UniProtKB/TrEMBL
  ENST00000633394 UniProtKB/TrEMBL
  ENST00000633396 UniProtKB/TrEMBL
  ENST00000633476 UniProtKB/TrEMBL
  ENST00000633641 UniProtKB/TrEMBL
  ENST00000633686 UniProtKB/TrEMBL
  ENST00000633697 UniProtKB/TrEMBL
  ENST00000633857 UniProtKB/TrEMBL
  ENST00000633887 UniProtKB/TrEMBL
  ENST00000633928 UniProtKB/TrEMBL
  ENST00000634156 UniProtKB/TrEMBL
  ENST00000634157 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104529 GTEx
  ENSG00000273594 GTEx
HGNC ID HGNC:3211 ENTREZGENE
Human Proteome Map EEF1D Human Proteome Map
InterPro eEF-1beta-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-1_beta_acid_region_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF1B_bsu/dsu_GNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_elong_EF1B/ribosomal_S6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_elong_EF1B_B/D_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1936 UniProtKB/Swiss-Prot
NCBI Gene 1936 ENTREZGENE
OMIM 130592 OMIM
Pfam EF-1_beta_acid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF1_GNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27647 PharmGKB
PROSITE EF1BD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF1BD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EF-1_beta_acid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF1_GNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1X7_HUMAN UniProtKB/TrEMBL
  A0A0J9YXU2_HUMAN UniProtKB/TrEMBL
  B2RAR6_HUMAN UniProtKB/TrEMBL
  D3DWK1_HUMAN UniProtKB/TrEMBL
  E9PI39_HUMAN UniProtKB/TrEMBL
  E9PI93_HUMAN UniProtKB/TrEMBL
  E9PIP5_HUMAN UniProtKB/TrEMBL
  E9PIZ1_HUMAN UniProtKB/TrEMBL
  E9PJ84_HUMAN UniProtKB/TrEMBL
  E9PJD0_HUMAN UniProtKB/TrEMBL
  E9PJV8_HUMAN UniProtKB/TrEMBL
  E9PK01_HUMAN UniProtKB/TrEMBL
  E9PK06_HUMAN UniProtKB/TrEMBL
  E9PK72_HUMAN UniProtKB/TrEMBL
  E9PKH7_HUMAN UniProtKB/TrEMBL
  E9PKK3_HUMAN UniProtKB/TrEMBL
  E9PL12_HUMAN UniProtKB/TrEMBL
  E9PL21_HUMAN UniProtKB/TrEMBL
  E9PL71_HUMAN UniProtKB/TrEMBL
  E9PLA1_HUMAN UniProtKB/TrEMBL
  E9PLL8_HUMAN UniProtKB/TrEMBL
  E9PLS6_HUMAN UniProtKB/TrEMBL
  E9PLT8_HUMAN UniProtKB/TrEMBL
  E9PM66_HUMAN UniProtKB/TrEMBL
  E9PMW7_HUMAN UniProtKB/TrEMBL
  E9PN56_HUMAN UniProtKB/TrEMBL
  E9PN71_HUMAN UniProtKB/TrEMBL
  E9PN91_HUMAN UniProtKB/TrEMBL
  E9PNC8_HUMAN UniProtKB/TrEMBL
  E9PNW6_HUMAN UniProtKB/TrEMBL
  E9PPR1_HUMAN UniProtKB/TrEMBL
  E9PPY1_HUMAN UniProtKB/TrEMBL
  E9PQ49_HUMAN UniProtKB/TrEMBL
  E9PQC9_HUMAN UniProtKB/TrEMBL
  E9PQR8_HUMAN UniProtKB/TrEMBL
  E9PQZ1_HUMAN UniProtKB/TrEMBL
  E9PRL0_HUMAN UniProtKB/TrEMBL
  E9PRY8_HUMAN UniProtKB/TrEMBL
  EF1D_HUMAN UniProtKB/Swiss-Prot
  H0YCK7_HUMAN UniProtKB/TrEMBL
  H0YE58_HUMAN UniProtKB/TrEMBL
  H0YE72_HUMAN UniProtKB/TrEMBL
  P29692 ENTREZGENE
  Q9BW34_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DDU4 UniProtKB/Swiss-Prot
  D3DWK3 UniProtKB/Swiss-Prot
  E9PBQ9 UniProtKB/Swiss-Prot
  Q4VBZ6 UniProtKB/Swiss-Prot
  Q969J1 UniProtKB/Swiss-Prot
  Q96I38 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 EEF1D  eukaryotic translation elongation factor 1 delta    eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)  Symbol and/or name change 5135510 APPROVED