MRPL18 (mitochondrial ribosomal protein L18) - Rat Genome Database

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Gene: MRPL18 (mitochondrial ribosomal protein L18) Homo sapiens
Analyze
Symbol: MRPL18
Name: mitochondrial ribosomal protein L18
RGD ID: 1314973
HGNC Page HGNC:14477
Description: Enables 5S rRNA binding activity. Involved in rRNA import into mitochondrion. Located in mitochondrion. Part of mitochondrial large ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 39S ribosomal protein L18, mitochondrial; HSPC071; L18mt; mitochondrial large ribosomal subunit protein uL18m; MRP-L18
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420951  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386159,789,812 - 159,798,429 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6159,789,812 - 159,798,436 (+)EnsemblGRCh38hg38GRCh38
GRCh376160,210,844 - 160,219,461 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,131,488 - 160,139,451 (+)NCBINCBI36Build 36hg18NCBI36
Build 346160,181,908 - 160,189,871NCBI
Celera6160,857,576 - 160,865,535 (+)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6157,681,735 - 157,689,697 (+)NCBIHuRef
CHM1_16160,473,799 - 160,481,752 (+)NCBICHM1_1
T2T-CHM13v2.06161,035,444 - 161,044,045 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11042152   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11543634   PMID:11551941   PMID:12107413   PMID:12477932   PMID:12706105   PMID:15489334   PMID:15489336   PMID:16381901  
PMID:20186120   PMID:20360068   PMID:20877624   PMID:21685364   PMID:21873635   PMID:22658674   PMID:22664934   PMID:22904065   PMID:23402259   PMID:24981860   PMID:25278503   PMID:25324306  
PMID:25609649   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27023846   PMID:27218139   PMID:27432908   PMID:27499296   PMID:27591049   PMID:27609421   PMID:28380382   PMID:28514442  
PMID:28892042   PMID:29229926   PMID:29491746   PMID:29507755   PMID:29568061   PMID:29802200   PMID:29911972   PMID:30033366   PMID:30833792   PMID:31059266   PMID:31871319   PMID:31932471  
PMID:31980649   PMID:32296183   PMID:32877691   PMID:33001583   PMID:33306668   PMID:33961781   PMID:35013218  


Genomics

Comparative Map Data
MRPL18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386159,789,812 - 159,798,429 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6159,789,812 - 159,798,436 (+)EnsemblGRCh38hg38GRCh38
GRCh376160,210,844 - 160,219,461 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,131,488 - 160,139,451 (+)NCBINCBI36Build 36hg18NCBI36
Build 346160,181,908 - 160,189,871NCBI
Celera6160,857,576 - 160,865,535 (+)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6157,681,735 - 157,689,697 (+)NCBIHuRef
CHM1_16160,473,799 - 160,481,752 (+)NCBICHM1_1
T2T-CHM13v2.06161,035,444 - 161,044,045 (+)NCBIT2T-CHM13v2.0
Mrpl18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391713,130,232 - 13,136,674 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1713,130,236 - 13,135,232 (-)EnsemblGRCm39 Ensembl
GRCm381712,911,345 - 12,917,787 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1712,911,349 - 12,916,345 (-)EnsemblGRCm38mm10GRCm38
MGSCv371713,104,221 - 13,108,957 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361712,754,287 - 12,759,023 (-)NCBIMGSCv36mm8
Celera1712,942,903 - 12,947,639 (-)NCBICelera
Cytogenetic Map17A1NCBI
Mrpl18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2147,837,169 - 47,841,987 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl147,836,561 - 47,841,987 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx148,528,807 - 48,533,628 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0154,514,771 - 54,519,522 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0148,604,336 - 48,609,149 (+)NCBIRnor_WKY
Rnor_6.0148,033,531 - 48,038,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl148,033,768 - 48,038,726 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0151,713,672 - 51,718,630 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4142,111,647 - 42,116,465 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1142,114,536 - 42,119,412 (+)NCBI
Celera143,637,628 - 43,642,435 (+)NCBICelera
Cytogenetic Map1q11NCBI
Mrpl18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543921,058,187 - 21,067,100 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543921,059,736 - 21,067,100 (-)NCBIChiLan1.0ChiLan1.0
MRPL18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16162,684,950 - 162,693,002 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6162,684,958 - 162,693,002 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06157,673,328 - 157,681,324 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MRPL18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1149,038,814 - 49,043,667 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl149,038,871 - 49,043,501 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha149,880,740 - 49,885,636 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0149,223,445 - 49,228,365 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl149,223,559 - 49,228,207 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1149,105,805 - 49,110,739 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0148,976,978 - 48,981,811 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0149,592,154 - 49,597,020 (+)NCBIUU_Cfam_GSD_1.0
Mrpl18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946144,031,650 - 144,037,129 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648911,283,601 - 11,289,125 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPL18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl17,581,764 - 7,590,031 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.117,581,763 - 7,590,037 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.219,380,719 - 9,389,025 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MRPL18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11387,389,210 - 87,395,134 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1387,389,702 - 87,394,866 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604059,787,984 - 59,793,951 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrpl18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248553,112,933 - 3,120,435 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH103015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,219,104 - 160,219,229UniSTSGRCh37
Build 366160,139,094 - 160,139,219RGDNCBI36
Celera6160,865,178 - 160,865,303RGD
Cytogenetic Map6q25.3UniSTS
HuRef6157,689,340 - 157,689,465UniSTS
GeneMap99-GB4 RH Map6622.06UniSTS
MRPL18_2880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,219,003 - 160,219,486UniSTSGRCh37
Build 366160,138,993 - 160,139,476RGDNCBI36
Celera6160,865,077 - 160,865,560RGD
HuRef6157,689,239 - 157,689,722UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:487
Count of miRNA genes:378
Interacting mature miRNAs:406
Transcripts:ENST00000367034, ENST00000476826, ENST00000479638, ENST00000480842
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
Medium 2432 2714 1718 618 1751 460 4356 2120 3679 417 1449 1608 171 1204 2788 4
Low 7 277 8 6 200 5 1 77 55 2 11 5 4 1 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF161556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV756740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF797811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG548185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM924328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU601065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU932963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU943173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA777760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB529016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD675657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367034   ⟹   ENSP00000356001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,790,467 - 159,798,429 (+)Ensembl
RefSeq Acc Id: ENST00000476826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,789,812 - 159,798,313 (+)Ensembl
RefSeq Acc Id: ENST00000479638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,789,886 - 159,797,404 (+)Ensembl
RefSeq Acc Id: ENST00000480842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,790,517 - 159,798,436 (+)Ensembl
RefSeq Acc Id: NM_001318817   ⟹   NP_001305746
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,790,467 - 159,798,429 (+)NCBI
CHM1_16160,473,785 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,036,099 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014161   ⟹   NP_054880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,790,467 - 159,798,429 (+)NCBI
GRCh376160,211,492 - 160,219,461 (+)RGD
Build 366160,131,488 - 160,139,451 (+)NCBI Archive
Celera6160,857,576 - 160,865,535 (+)RGD
HuRef6157,681,735 - 157,689,697 (+)ENTREZGENE
CHM1_16160,473,785 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,036,099 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134860
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,867 - 159,798,429 (+)NCBI
CHM1_16160,473,206 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,035,499 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134861
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,790,467 - 159,798,429 (+)NCBI
CHM1_16160,473,856 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,036,099 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134862
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,867 - 159,798,429 (+)NCBI
CHM1_16160,473,206 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,035,499 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134863
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,867 - 159,798,429 (+)NCBI
CHM1_16160,473,206 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,035,499 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134864
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,812 - 159,798,429 (+)NCBI
CHM1_16160,473,151 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,035,444 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134865
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,867 - 159,798,429 (+)NCBI
CHM1_16160,473,206 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,035,499 - 161,044,045 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134866
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,867 - 159,798,429 (+)NCBI
CHM1_16160,473,206 - 160,481,752 (+)NCBI
T2T-CHM13v2.06161,035,499 - 161,044,045 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054880   ⟸   NM_014161
- Peptide Label: isoform 1
- UniProtKB: Q9NZW8 (UniProtKB/Swiss-Prot),   Q9H0U6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305746   ⟸   NM_001318817
- Peptide Label: isoform 2
- UniProtKB: Q9H0U6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000356001   ⟸   ENST00000367034

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0U6-F1-model_v2 AlphaFold Q9H0U6 1-180 view protein structure

Promoters
RGD ID:7209591
Promoter ID:EPDNEW_H10542
Type:initiation region
Name:MRPL18_2
Description:mitochondrial ribosomal protein L18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10543  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,789,867 - 159,789,927EPDNEW
RGD ID:7209595
Promoter ID:EPDNEW_H10543
Type:initiation region
Name:MRPL18_1
Description:mitochondrial ribosomal protein L18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10542  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,790,500 - 159,790,560EPDNEW
RGD ID:6803939
Promoter ID:HG_KWN:55660
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_001008897,   OTTHUMT00000042917,   OTTHUMT00000042925,   OTTHUMT00000042926,   OTTHUMT00000042927,   OTTHUMT00000042928,   UC003QST.1,   UC010KJZ.1,   UC010KKA.1,   UC010KKB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366160,129,661 - 160,131,702 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26
uncertain significance
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q25.3(chr6:160211039-160211636)x0 copy number loss not provided [RCV000746136] Chr6:160211039..160211636 [GRCh37]
Chr6:6q25.3
benign
GRCh37/hg19 6q25.3(chr6:160211039-160211697)x0 copy number loss not provided [RCV000746137] Chr6:160211039..160211697 [GRCh37]
Chr6:6q25.3
benign
GRCh37/hg19 6q25.3(chr6:160211239-160211636)x0 copy number loss not provided [RCV000746138] Chr6:160211239..160211636 [GRCh37]
Chr6:6q25.3
benign
GRCh37/hg19 6q25.3(chr6:160211291-160211636)x1 copy number loss not provided [RCV000746139] Chr6:160211291..160211636 [GRCh37]
Chr6:6q25.3
benign
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 copy number gain not provided [RCV000848057] Chr6:157262571..160992289 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1 copy number loss not provided [RCV000846782] Chr6:160025206..160271483 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3 copy number gain not provided [RCV001258756] Chr6:159998877..160413982 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) copy number loss not specified [RCV002053640] Chr6:153207930..164322346 [GRCh37]
Chr6:6q25.2-26
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14477 AgrOrtholog
COSMIC MRPL18 COSMIC
Ensembl Genes ENSG00000112110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000356001 ENTREZGENE
  ENSP00000356001.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367034 ENTREZGENE
  ENST00000367034.5 UniProtKB/Swiss-Prot
  ENST00000476826 ENTREZGENE
  ENST00000480842 ENTREZGENE
Gene3D-CATH 3.30.420.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112110 GTEx
HGNC ID HGNC:14477 ENTREZGENE
Human Proteome Map MRPL18 Human Proteome Map
InterPro Ribosomal_L18 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Ribosomal_S11_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29074 UniProtKB/Swiss-Prot
NCBI Gene 29074 ENTREZGENE
OMIM 611831 OMIM
PANTHER PTHR12899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_L18p UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30947 PharmGKB
UniProt A8K9D2_HUMAN UniProtKB/TrEMBL
  Q9H0U6 ENTREZGENE
  Q9NZW8 ENTREZGENE
  RM18_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5TAP9 UniProtKB/Swiss-Prot
  Q9NZW8 UniProtKB/Swiss-Prot