EIF3H (eukaryotic translation initiation factor 3 subunit H) - Rat Genome Database

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Gene: EIF3H (eukaryotic translation initiation factor 3 subunit H) Homo sapiens
Analyze
Symbol: EIF3H
Name: eukaryotic translation initiation factor 3 subunit H
RGD ID: 1351668
HGNC Page HGNC
Description: Exhibits ubiquitinyl hydrolase activity. Contributes to translation initiation factor activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process and translational initiation. Localizes to eukaryotic translation initiation factor 3 complex. Implicated in breast cancer; prostate cancer; and prostate carcinoma. Biomarker of prostate cancer; PARTICIPATES IN measles pathway; translation initiation pathway; INTERACTS WITH 5-fluorouracil; aflatoxin B2; antirheumatic drug.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: eIF-3-gamma; eIF3 p40 subunit; eIF3-gamma; eIF3-p40; EIF3S3; eukaryotic translation initiation factor 3 subunit 3; eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD); eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD); eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa; eukaryotic translation initiation factor 3, subunit H; MGC102958
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8116,642,130 - 116,766,925 (-)EnsemblGRCh38hg38GRCh38
GRCh388116,642,130 - 116,755,823 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378117,654,369 - 117,768,062 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368117,726,236 - 117,837,243 (-)NCBINCBI36hg18NCBI36
Build 348117,726,266 - 117,837,222NCBI
Celera8113,843,130 - 113,956,776 (-)NCBI
Cytogenetic Map8q23.3-q24.11NCBI
HuRef8112,983,503 - 113,094,395 (-)NCBIHuRef
CHM1_18117,697,603 - 117,808,219 (-)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:8995409   PMID:8995410   PMID:9341143   PMID:9822659   PMID:12477932   PMID:12588972   PMID:12812986   PMID:14519125   PMID:14578863   PMID:14702039   PMID:15489334  
PMID:16159877   PMID:16189514   PMID:16196087   PMID:16226712   PMID:16263121   PMID:16286006   PMID:16344560   PMID:16652384   PMID:17043677   PMID:17081983   PMID:17322308   PMID:17353931  
PMID:17361185   PMID:17403899   PMID:17559875   PMID:17581632   PMID:18029348   PMID:18187620   PMID:18372905   PMID:18544531   PMID:18599441   PMID:18628297   PMID:19056867   PMID:19060904  
PMID:19204574   PMID:19615732   PMID:19748344   PMID:19946888   PMID:20016921   PMID:20020773   PMID:20360068   PMID:20437058   PMID:20508642   PMID:20659471   PMID:20862326   PMID:21139048  
PMID:21319273   PMID:21761138   PMID:21866423   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:22108332   PMID:22190034   PMID:22505724   PMID:22658674   PMID:22863883  
PMID:22939629   PMID:22969067   PMID:22990118   PMID:23000965   PMID:23184937   PMID:23398456   PMID:23402259   PMID:23455922   PMID:23463506   PMID:23623729   PMID:24148822   PMID:24163370  
PMID:24737748   PMID:24816145   PMID:25064007   PMID:25147182   PMID:25324306   PMID:25416956   PMID:25476789   PMID:25737280   PMID:25849773   PMID:25921289   PMID:26100019   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26549023   PMID:26673895   PMID:26777405   PMID:26831064   PMID:26949251   PMID:27340783   PMID:27591049   PMID:27634302   PMID:28302793   PMID:28514442  
PMID:28515276   PMID:28581483   PMID:28685749   PMID:29121065   PMID:29128334   PMID:29228324   PMID:29229926   PMID:29395067   PMID:29449217   PMID:29491746   PMID:29507755   PMID:29509190  
PMID:29653964   PMID:29795372   PMID:29844126   PMID:29845934   PMID:29892012   PMID:30021884   PMID:30022709   PMID:30033366   PMID:30060823   PMID:30196744   PMID:30232453   PMID:30279242  
PMID:30410068   PMID:30833792   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31413325   PMID:31527615   PMID:31586073   PMID:31980649   PMID:32129710   PMID:32269044  
PMID:32296183   PMID:33060197  


Genomics

Comparative Map Data
EIF3H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8116,642,130 - 116,766,925 (-)EnsemblGRCh38hg38GRCh38
GRCh388116,642,130 - 116,755,823 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378117,654,369 - 117,768,062 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368117,726,236 - 117,837,243 (-)NCBINCBI36hg18NCBI36
Build 348117,726,266 - 117,837,222NCBI
Celera8113,843,130 - 113,956,776 (-)NCBI
Cytogenetic Map8q23.3-q24.11NCBI
HuRef8112,983,503 - 113,094,395 (-)NCBIHuRef
CHM1_18117,697,603 - 117,808,219 (-)NCBICHM1_1
Eif3h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391551,649,956 - 51,729,033 (-)NCBIGRCm39mm39
GRCm39 Ensembl1551,649,954 - 51,728,919 (-)Ensembl
GRCm381551,786,563 - 51,865,461 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1551,786,558 - 51,865,523 (-)EnsemblGRCm38mm10GRCm38
MGSCv371551,618,109 - 51,697,007 (-)NCBIGRCm37mm9NCBIm37
MGSCv361551,616,637 - 51,695,535 (-)NCBImm8
Celera1553,359,320 - 53,438,134 (-)NCBICelera
Cytogenetic Map15CNCBI
Eif3h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2783,091,045 - 83,174,436 (-)NCBI
Rnor_6.0 Ensembl610,151,729 - 10,236,695 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl6108,745,895 - 108,756,130 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0610,151,732 - 10,236,677 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06116,798,908 - 116,803,475 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.06116,806,338 - 116,856,511 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4788,069,668 - 88,154,285 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1788,090,397 - 88,175,015 (-)NCBI
Celera779,969,394 - 80,052,871 (-)NCBICelera
Cytogenetic Map6q12NCBI
Eif3h
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541722,754,395 - 22,846,618 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541722,757,781 - 22,846,349 (-)NCBIChiLan1.0ChiLan1.0
EIF3H
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18115,863,493 - 115,984,107 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8115,863,490 - 115,973,872 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08113,320,059 - 113,440,769 (-)NCBIMhudiblu_PPA_v0panPan3
EIF3H
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11316,105,960 - 16,201,902 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1316,105,990 - 16,341,153 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1316,107,272 - 16,203,193 (-)NCBI
ROS_Cfam_1.01316,393,919 - 16,489,878 (-)NCBI
UMICH_Zoey_3.11316,139,289 - 16,233,993 (-)NCBI
UNSW_CanFamBas_1.01316,238,566 - 16,334,288 (-)NCBI
UU_Cfam_GSD_1.01316,479,179 - 16,575,072 (-)NCBI
Eif3h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530322,083,049 - 22,180,007 (+)NCBI
SpeTri2.0NW_00493647029,509,154 - 29,606,124 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EIF3H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl421,955,042 - 22,058,707 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1421,955,026 - 22,053,683 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2423,327,980 - 23,448,893 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EIF3H
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18111,283,184 - 111,390,835 (-)NCBI
Eif3h
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476314,938,624 - 15,027,001 (-)NCBI

Position Markers
SHGC-110597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,719,709 - 117,720,003UniSTSGRCh37
Build 368117,788,890 - 117,789,184RGDNCBI36
Celera8113,905,791 - 113,906,090RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,045,486 - 113,045,780UniSTS
TNG Radiation Hybrid Map858698.0UniSTS
SHGC-106117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,728,230 - 117,728,562UniSTSGRCh37
Build 368117,797,411 - 117,797,743RGDNCBI36
Celera8113,914,315 - 113,914,645RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,054,001 - 113,054,331UniSTS
TNG Radiation Hybrid Map858743.0UniSTS
SHGC-143430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,710,781 - 117,711,089UniSTSGRCh37
Build 368117,779,962 - 117,780,270RGDNCBI36
Celera8113,896,864 - 113,897,172RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,036,558 - 113,036,866UniSTS
TNG Radiation Hybrid Map858691.0UniSTS
SHGC-31909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,657,094 - 117,657,218UniSTSGRCh37
Build 368117,726,275 - 117,726,399RGDNCBI36
Celera8113,843,169 - 113,843,293RGD
Cytogenetic Map8q24.11UniSTS
HuRef8112,983,542 - 112,983,666UniSTS
RH69256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,708,999 - 117,709,183UniSTSGRCh37
Build 368117,778,180 - 117,778,364RGDNCBI36
Celera8113,895,082 - 113,895,266RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,034,776 - 113,034,960UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
G19711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,657,098 - 117,657,260UniSTSGRCh37
Build 368117,726,279 - 117,726,441RGDNCBI36
Celera8113,843,173 - 113,843,335RGD
Cytogenetic Map8q24.11UniSTS
HuRef8112,983,546 - 112,983,708UniSTS
A001W19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,657,098 - 117,657,260UniSTSGRCh37
Build 368117,726,279 - 117,726,441RGDNCBI36
Celera8113,843,173 - 113,843,335RGD
Cytogenetic Map8q24.11UniSTS
HuRef8112,983,546 - 112,983,708UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
D8S1668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,699,707 - 117,699,987UniSTSGRCh37
Build 368117,768,888 - 117,769,168RGDNCBI36
Celera8113,885,786 - 113,886,066RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,025,480 - 113,025,760UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2534
Count of miRNA genes:1111
Interacting mature miRNAs:1349
Transcripts:ENST00000276682, ENST00000517974, ENST00000518034, ENST00000518949, ENST00000518995, ENST00000519046, ENST00000520289, ENST00000520813, ENST00000521861, ENST00000522453, ENST00000522800
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 1 4
Medium 2439 2900 1686 585 1930 426 4357 2128 3666 416 1456 1612 175 1 1204 2788 6 2
Low 91 40 39 20 39 69 68 3 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000276682   ⟹   ENSP00000276682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,644,833 - 116,766,255 (-)Ensembl
RefSeq Acc Id: ENST00000517974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,658,545 - 116,755,823 (-)Ensembl
RefSeq Acc Id: ENST00000518034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,658,249 - 116,755,823 (-)Ensembl
RefSeq Acc Id: ENST00000518949   ⟹   ENSP00000428195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,648,806 - 116,755,784 (-)Ensembl
RefSeq Acc Id: ENST00000518995   ⟹   ENSP00000428669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,655,905 - 116,755,822 (-)Ensembl
RefSeq Acc Id: ENST00000519046   ⟹   ENSP00000430926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,658,886 - 116,755,823 (-)Ensembl
RefSeq Acc Id: ENST00000520289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,646,581 - 116,657,775 (-)Ensembl
RefSeq Acc Id: ENST00000520813   ⟹   ENSP00000427908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,726,055 - 116,766,925 (-)Ensembl
RefSeq Acc Id: ENST00000521861   ⟹   ENSP00000429931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,642,130 - 116,755,823 (-)Ensembl
RefSeq Acc Id: ENST00000522453   ⟹   ENSP00000428885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,658,832 - 116,755,805 (-)Ensembl
RefSeq Acc Id: ENST00000522800   ⟹   ENSP00000429884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,657,220 - 116,755,829 (-)Ensembl
RefSeq Acc Id: ENST00000611080   ⟹   ENSP00000482724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,644,817 - 116,755,823 (-)Ensembl
RefSeq Acc Id: NM_003756   ⟹   NP_003747
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,642,130 - 116,755,823 (-)NCBI
GRCh378117,657,055 - 117,768,258 (-)NCBI
Build 368117,726,236 - 117,837,243 (-)NCBI Archive
HuRef8112,983,503 - 113,094,395 (-)ENTREZGENE
CHM1_18117,697,603 - 117,808,219 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003747   ⟸   NM_003756
- UniProtKB: O15372 (UniProtKB/Swiss-Prot),   Q6IB98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428669   ⟸   ENST00000518995
RefSeq Acc Id: ENSP00000428195   ⟸   ENST00000518949
RefSeq Acc Id: ENSP00000430926   ⟸   ENST00000519046
RefSeq Acc Id: ENSP00000482724   ⟸   ENST00000611080
RefSeq Acc Id: ENSP00000427908   ⟸   ENST00000520813
RefSeq Acc Id: ENSP00000429931   ⟸   ENST00000521861
RefSeq Acc Id: ENSP00000428885   ⟸   ENST00000522453
RefSeq Acc Id: ENSP00000429884   ⟸   ENST00000522800
RefSeq Acc Id: ENSP00000276682   ⟸   ENST00000276682
Protein Domains
JAB_MPN   MPN

Promoters
RGD ID:7214023
Promoter ID:EPDNEW_H12758
Type:initiation region
Name:EIF3H_1
Description:eukaryotic translation initiation factor 3 subunit H
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
GRCh388116,755,823 - 116,755,883EPDNEW
RGD ID:6806624
Promoter ID:HG_KWN:61955
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003756
Position:
Human AssemblyChrPosition (strand)Source
Build 368117,837,009 - 117,837,509 (-)MPROMDB
RGD ID:6852142
Promoter ID:EP73877
Type:multiple initiation site
Name:HS_EIF3S3
Description:Eukaryotic translation initiation factor 3, subunit 3 gamma,40kDa.
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 368117,837,243 - 117,837,303EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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
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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
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 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely 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 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
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 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 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 8q23.3-24.11(chr8:116497730-117379167)x1 copy number loss See cases [RCV000142553] Chr8:116497730..117379167 [GRCh38]
Chr8:117509968..118391406 [GRCh37]
Chr8:117579149..118460587 [NCBI36]
Chr8:8q23.3-24.11
uncertain significance
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
GRCh37/hg19 8q23.3-24.11(chr8:117649533-117863721)x3 copy number gain See cases [RCV000240077] Chr8:117649533..117863721 [GRCh37]
Chr8:8q23.3-24.11
uncertain significance
GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1 copy number loss See cases [RCV000240065] Chr8:117714768..119072307 [GRCh37]
Chr8:8q24.11
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 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q23.3-24.11(chr8:116902507-118942698)x1 copy number loss See cases [RCV000448534] Chr8:116902507..118942698 [GRCh37]
Chr8:8q23.3-24.11
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 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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
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
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
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 8q23.2-24.12(chr8:111137305-119897611)x1 copy number loss See cases [RCV000512409] Chr8:111137305..119897611 [GRCh37]
Chr8:8q23.2-24.12
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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q23.3-24.11(chr8:117623123-117862147)x3 copy number gain not provided [RCV000682952] Chr8:117623123..117862147 [GRCh37]
Chr8:8q23.3-24.11
uncertain significance
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
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 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q23.3-24.11(chr8:117667761-117773304)x3 copy number gain not provided [RCV000848653] Chr8:117667761..117773304 [GRCh37]
Chr8:8q23.3-24.11
uncertain significance
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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3273 AgrOrtholog
COSMIC EIF3H COSMIC
Ensembl Genes ENSG00000147677 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276682 UniProtKB/TrEMBL
  ENSP00000427908 UniProtKB/TrEMBL
  ENSP00000428195 UniProtKB/TrEMBL
  ENSP00000428669 UniProtKB/TrEMBL
  ENSP00000428885 UniProtKB/TrEMBL
  ENSP00000429884 UniProtKB/TrEMBL
  ENSP00000429931 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430926 UniProtKB/TrEMBL
  ENSP00000482724 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276682 UniProtKB/TrEMBL
  ENST00000518949 UniProtKB/TrEMBL
  ENST00000518995 UniProtKB/TrEMBL
  ENST00000519046 UniProtKB/TrEMBL
  ENST00000520813 UniProtKB/TrEMBL
  ENST00000521861 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522453 UniProtKB/TrEMBL
  ENST00000522800 UniProtKB/TrEMBL
  ENST00000611080 UniProtKB/TrEMBL
GTEx ENSG00000147677 GTEx
HGNC ID HGNC:3273 ENTREZGENE
Human Proteome Map EIF3H Human Proteome Map
InterPro eIF3h UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JAMM/MPN+_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8667 ENTREZGENE
OMIM 603912 OMIM
PANTHER PTHR10410:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam JAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162384854 PharmGKB
PROSITE MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART JAB_MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZK9_HUMAN UniProtKB/TrEMBL
  B3KS98_HUMAN UniProtKB/TrEMBL
  E5RFH0_HUMAN UniProtKB/TrEMBL
  E5RFW7_HUMAN UniProtKB/TrEMBL
  E5RGU4_HUMAN UniProtKB/TrEMBL
  E5RH59_HUMAN UniProtKB/TrEMBL
  E5RHC7_HUMAN UniProtKB/TrEMBL
  E5RJT0_HUMAN UniProtKB/TrEMBL
  EIF3H_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IB98 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 EIF3H  eukaryotic translation initiation factor 3 subunit H    eukaryotic translation initiation factor 3, subunit H  Symbol and/or name change 5135510 APPROVED