RPL7 (ribosomal protein L7) - Rat Genome Database
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Gene: RPL7 (ribosomal protein L7) Homo sapiens
Analyze
Symbol: RPL7
Name: ribosomal protein L7
RGD ID: 1350931
HGNC Page HGNC
Description: Exhibits DNA binding activity; identical protein binding activity; and mRNA binding activity. A structural constituent of ribosome. Involved in rRNA processing and ribosomal large subunit biogenesis. Localizes to postsynaptic density and ribonucleoprotein complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 60S ribosomal protein L7; humL7-1; L7; large ribosomal subunit protein uL30; MGC117326
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RPL7P1   RPL7P10   RPL7P11   RPL7P12   RPL7P13   RPL7P14   RPL7P15   RPL7P16   RPL7P17   RPL7P18   RPL7P19   RPL7P2   RPL7P20   RPL7P21   RPL7P22   RPL7P23   RPL7P24   RPL7P25   RPL7P26   RPL7P27   RPL7P28   RPL7P29   RPL7P3   RPL7P30   RPL7P31   RPL7P32   RPL7P33   RPL7P34   RPL7P35   RPL7P36   RPL7P37   RPL7P38   RPL7P39   RPL7P4   RPL7P40   RPL7P41   RPL7P42   RPL7P43   RPL7P44   RPL7P45   RPL7P46   RPL7P47   RPL7P48   RPL7P49   RPL7P5   RPL7P50   RPL7P51   RPL7P52   RPL7P53   RPL7P54   RPL7P55   RPL7P56   RPL7P57   RPL7P58   RPL7P59   RPL7P6   RPL7P60   RPL7P7   RPL7P8   RPL7P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl873,290,242 - 73,295,789 (-)EnsemblGRCh38hg38GRCh38
GRCh38873,290,242 - 73,294,466 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37874,202,477 - 74,206,701 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36874,365,428 - 74,368,423 (-)NCBINCBI36hg18NCBI36
Build 34874,365,429 - 74,368,422NCBI
Celera870,200,410 - 70,203,406 (-)NCBI
Cytogenetic Map8q21.11NCBI
HuRef869,693,718 - 69,696,713 (-)NCBIHuRef
CHM1_1874,255,572 - 74,258,567 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7750987   PMID:7862521   PMID:8125298   PMID:8360149   PMID:8441630   PMID:8722009   PMID:9268371   PMID:9582194   PMID:11790298   PMID:12401809   PMID:12477932   PMID:12704204  
PMID:12777385   PMID:12962325   PMID:14567916   PMID:15047060   PMID:15161933   PMID:15189156   PMID:15489334   PMID:15592455   PMID:15635413   PMID:16169070   PMID:16263121   PMID:16541025  
PMID:16791210   PMID:16797011   PMID:17258209   PMID:17620599   PMID:18274552   PMID:18457437   PMID:18697920   PMID:18809582   PMID:19287380   PMID:19596686   PMID:19615732   PMID:19725029  
PMID:19738201   PMID:19805454   PMID:19928837   PMID:19946888   PMID:20020773   PMID:20308691   PMID:20379614   PMID:20391533   PMID:20828572   PMID:21081503   PMID:21081666   PMID:21145461  
PMID:21170055   PMID:21182205   PMID:21319273   PMID:21423176   PMID:21509594   PMID:21630459   PMID:21873635   PMID:21900206   PMID:22412388   PMID:22586326   PMID:22645313   PMID:22658674  
PMID:22681889   PMID:22939629   PMID:22944692   PMID:23080069   PMID:23084401   PMID:23125841   PMID:23151878   PMID:23246001   PMID:23266416   PMID:23376485   PMID:23398456   PMID:23438482  
PMID:23443559   PMID:24104479   PMID:24244333   PMID:24332808   PMID:24457600   PMID:24639526   PMID:24711643   PMID:24965446   PMID:25315684   PMID:25798074   PMID:25854864   PMID:25921289  
PMID:25963833   PMID:26170170   PMID:26186194   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26446488   PMID:26496610   PMID:26561776   PMID:26618866   PMID:26816005   PMID:26831064  
PMID:27025967   PMID:27049334   PMID:27067261   PMID:27342126   PMID:27462432   PMID:27515235   PMID:27545878   PMID:27591049   PMID:27684187   PMID:27976729   PMID:28065597   PMID:28077445  
PMID:28416769   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28700943   PMID:28718761   PMID:28902428   PMID:28927264   PMID:28977666   PMID:29117863   PMID:29229926   PMID:29298432  
PMID:29331416   PMID:29467282   PMID:29507755   PMID:29511296   PMID:29568061   PMID:29669786   PMID:29676528   PMID:29721183   PMID:29773831   PMID:29777862   PMID:29802200   PMID:29845934  
PMID:29991511   PMID:30021884   PMID:30154076   PMID:30209976   PMID:30320934   PMID:30344098   PMID:30349055   PMID:30352685   PMID:30404004   PMID:30463901   PMID:30472188   PMID:30575818  
PMID:30804502   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31006538   PMID:31048545   PMID:31059266   PMID:31180492   PMID:31239290   PMID:31253590   PMID:31289203   PMID:31300519  
PMID:31405213   PMID:31501420   PMID:31586073   PMID:31822558   PMID:31980649   PMID:32249768   PMID:32457219   PMID:32529326   PMID:32797159   PMID:32877691  


Genomics

Comparative Map Data
RPL7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl873,290,242 - 73,295,789 (-)EnsemblGRCh38hg38GRCh38
GRCh38873,290,242 - 73,294,466 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37874,202,477 - 74,206,701 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36874,365,428 - 74,368,423 (-)NCBINCBI36hg18NCBI36
Build 34874,365,429 - 74,368,422NCBI
Celera870,200,410 - 70,203,406 (-)NCBI
Cytogenetic Map8q21.11NCBI
HuRef869,693,718 - 69,696,713 (-)NCBIHuRef
CHM1_1874,255,572 - 74,258,567 (-)NCBICHM1_1
Rpl7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39116,171,519 - 16,174,657 (-)NCBIGRCm39mm39
GRCm39 Ensembl116,171,519 - 16,174,886 (-)Ensembl
GRCm38116,101,295 - 16,104,433 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,101,295 - 16,104,662 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,091,376 - 16,094,514 (-)NCBIGRCm37mm9NCBIm37
MGSCv36116,086,512 - 16,089,621 (-)NCBImm8
Celera116,037,288 - 16,040,427 (-)NCBICelera
Cytogenetic Map1A3NCBI
Rpl7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.253,217,184 - 3,220,192 (+)NCBI
Rnor_6.0 Ensembl52,632,712 - 2,640,021 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.052,633,517 - 2,636,525 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.052,621,855 - 2,624,863 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.452,315,766 - 2,318,774 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.152,315,744 - 2,318,414 (+)NCBI
Celera52,818,341 - 2,821,349 (+)NCBICelera
Cytogenetic Map5q11NCBI
Rpl7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554446,910,818 - 6,914,047 (+)NCBIChiLan1.0ChiLan1.0
RPL7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1871,476,492 - 71,480,285 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl871,476,492 - 71,480,279 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0869,829,356 - 69,833,184 (-)NCBIMhudiblu_PPA_v0panPan3
RPL7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2921,881,044 - 21,884,731 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12921,881,048 - 21,884,401 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rpl7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366482,055,396 - 2,058,664 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPL7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl462,602,431 - 62,605,892 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1462,602,430 - 62,605,892 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap4q11-q14NCBI
RPL7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1868,899,626 - 68,902,757 (-)NCBI
Rpl7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474417,869,862 - 17,873,175 (+)NCBI

Position Markers
D8S1958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37874,205,091 - 74,205,386UniSTSGRCh37
Build 36874,367,645 - 74,367,940RGDNCBI36
Celera870,202,628 - 70,202,923RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,695,935 - 69,696,230UniSTS
GeneMap99-GB4 RH Map8375.77UniSTS
Whitehead-RH Map8462.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
Rpl7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,474,157 - 149,474,401UniSTSGRCh37
Celera5145,555,525 - 145,555,769UniSTS
HuRef195,265,973 - 95,266,217UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:972
Count of miRNA genes:557
Interacting mature miRNAs:612
Transcripts:ENST00000352983, ENST00000396465, ENST00000396466, ENST00000396467, ENST00000431653, ENST00000435330, ENST00000466821, ENST00000487500
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High 177 138 90 32 309 30 903 55 115 75 485 184 7 147 376 1
Medium 2255 2841 1633 590 1634 434 3452 2138 3593 343 963 1424 164 1057 2412 3
Low 2 6 6 1 1
Below cutoff 2 2 1 1 9 1 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC111149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000352983   ⟹   ENSP00000339795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,290,242 - 73,293,633 (-)Ensembl
RefSeq Acc Id: ENST00000396465   ⟹   ENSP00000379729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,291,042 - 73,294,438 (-)Ensembl
RefSeq Acc Id: ENST00000396466   ⟹   ENSP00000379730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,291,040 - 73,295,789 (-)Ensembl
RefSeq Acc Id: ENST00000396467   ⟹   ENSP00000379731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,290,284 - 73,293,633 (-)Ensembl
RefSeq Acc Id: ENST00000431653   ⟹   ENSP00000401300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,291,816 - 73,293,342 (-)Ensembl
RefSeq Acc Id: ENST00000435330   ⟹   ENSP00000415808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,291,783 - 73,292,922 (-)Ensembl
RefSeq Acc Id: ENST00000466821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,291,114 - 73,291,903 (-)Ensembl
RefSeq Acc Id: ENST00000487500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,290,267 - 73,291,137 (-)Ensembl
RefSeq Acc Id: NM_000971   ⟹   NP_000962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,290,242 - 73,293,633 (-)NCBI
GRCh37874,202,874 - 74,205,869 (-)ENTREZGENE
Build 36874,365,428 - 74,368,423 (-)NCBI Archive
HuRef869,693,718 - 69,696,713 (-)ENTREZGENE
CHM1_1874,255,572 - 74,258,567 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363737   ⟹   NP_001350666
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,290,242 - 73,294,466 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000962   ⟸   NM_000971
- Peptide Label: isoform 1
- UniProtKB: P18124 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350666   ⟸   NM_001363737
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000339795   ⟸   ENST00000352983
RefSeq Acc Id: ENSP00000401300   ⟸   ENST00000431653
RefSeq Acc Id: ENSP00000379731   ⟸   ENST00000396467
RefSeq Acc Id: ENSP00000379730   ⟸   ENST00000396466
RefSeq Acc Id: ENSP00000379729   ⟸   ENST00000396465
RefSeq Acc Id: ENSP00000415808   ⟸   ENST00000435330
Protein Domains
Ribosomal_L30   Ribosomal_L30_N

Promoters
RGD ID:7213523
Promoter ID:EPDNEW_H12507
Type:initiation region
Name:RPL7_2
Description:ribosomal protein L7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12508  EPDNEW_H12509  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,291,041 - 73,291,101EPDNEW
RGD ID:7213525
Promoter ID:EPDNEW_H12508
Type:initiation region
Name:RPL7_1
Description:ribosomal protein L7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12507  EPDNEW_H12509  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,293,632 - 73,293,692EPDNEW
RGD ID:7213527
Promoter ID:EPDNEW_H12509
Type:initiation region
Name:RPL7_3
Description:ribosomal protein L7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12507  EPDNEW_H12508  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,293,943 - 73,294,003EPDNEW
RGD ID:6807008
Promoter ID:HG_KWN:61516
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259294
Position:
Human AssemblyChrPosition (strand)Source
Build 36874,365,461 - 74,366,767 (-)MPROMDB
RGD ID:6807006
Promoter ID:HG_KWN:61517
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259293
Position:
Human AssemblyChrPosition (strand)Source
Build 36874,366,576 - 74,367,667 (-)MPROMDB
RGD ID:6807005
Promoter ID:HG_KWN:61518
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:ENST00000396465,   ENST00000396467,   OTTHUMT00000259287,   OTTHUMT00000259291,   OTTHUMT00000259292
Position:
Human AssemblyChrPosition (strand)Source
Build 36874,368,321 - 74,368,982 (-)MPROMDB
RGD ID:6850422
Promoter ID:EP73002
Type:single initiation site
Name:HS_RPL7
Description:Ribosomal protein L7.
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 36874,368,421 - 74,368,481EPD
RGD ID:6806654
Promoter ID:HG_KWN:61520
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000396466
Position:
Human AssemblyChrPosition (strand)Source
Build 36874,370,191 - 74,370,691 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 copy number gain See cases [RCV000053655] Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11
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
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
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 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 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 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 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
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely 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 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 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 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 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 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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10363 AgrOrtholog
COSMIC RPL7 COSMIC
Ensembl Genes ENSG00000147604 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000339795 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379729 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000379730 UniProtKB/TrEMBL
  ENSP00000379731 UniProtKB/TrEMBL
  ENSP00000401300 UniProtKB/TrEMBL
  ENSP00000415808 UniProtKB/TrEMBL
Ensembl Transcript ENST00000352983 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396465 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000396466 UniProtKB/TrEMBL
  ENST00000396467 UniProtKB/TrEMBL
  ENST00000431653 UniProtKB/TrEMBL
  ENST00000435330 UniProtKB/TrEMBL
Gene3D-CATH 1.10.15.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1390.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147604 GTEx
HGNC ID HGNC:10363 ENTREZGENE
Human Proteome Map RPL7 Human Proteome Map
InterPro L30_ferredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L30_central_dom_arc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L30_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L30_ferredoxin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L30_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L7/L30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L7_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L7_euk_arc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6129 UniProtKB/Swiss-Prot
NCBI Gene 6129 ENTREZGENE
OMIM 604166 OMIM
PANTHER PTHR11524 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_L30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L30_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34759 PharmGKB
PROSITE RIBOSOMAL_L30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs uL30_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R814_HUMAN UniProtKB/TrEMBL
  A8MUD9_HUMAN UniProtKB/TrEMBL
  C9JIJ5_HUMAN UniProtKB/TrEMBL
  C9JZ88_HUMAN UniProtKB/TrEMBL
  P18124 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K504 UniProtKB/Swiss-Prot
  Q15289 UniProtKB/Swiss-Prot
  Q3KQU0 UniProtKB/Swiss-Prot
  Q5I0X1 UniProtKB/Swiss-Prot
  Q6IBM9 UniProtKB/Swiss-Prot