MRPL13 (mitochondrial ribosomal protein L13) - Rat Genome Database

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Gene: MRPL13 (mitochondrial ribosomal protein L13) Homo sapiens
Analyze
Symbol: MRPL13
Name: mitochondrial ribosomal protein L13
RGD ID: 1351918
HGNC Page HGNC
Description: Exhibits RNA binding activity. Predicted to be involved in negative regulation of translation. Localizes to mitochondrial large ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 39S ribosomal protein L13, mitochondrial; L13; L13A; L13mt; mitochondrial large ribosomal subunit protein uL13m; MRP-L13; RPL13; RPML13
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 Ensembl8120,380,761 - 120,445,402 (-)EnsemblGRCh38hg38GRCh38
GRCh388120,395,437 - 120,445,150 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378121,407,676 - 121,457,390 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,477,264 - 121,526,828 (-)NCBINCBI36hg18NCBI36
Build 348121,477,264 - 121,526,828NCBI
Celera8117,597,215 - 117,646,764 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,728,727 - 116,778,273 (-)NCBIHuRef
CHM1_18121,448,575 - 121,498,142 (-)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

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8076819   PMID:11279069   PMID:11543634   PMID:12477932   PMID:12706105   PMID:14702039   PMID:15146197   PMID:15489334   PMID:15560738   PMID:18995835   PMID:19738201   PMID:20186120  
PMID:20601428   PMID:20877624   PMID:21531335   PMID:21873635   PMID:22658674   PMID:22681889   PMID:22939629   PMID:25278503   PMID:25317112   PMID:25900982   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:27432908   PMID:27499296   PMID:27591049   PMID:28514442   PMID:28533407   PMID:28892042   PMID:28978646   PMID:29128334   PMID:29229926   PMID:29509190   PMID:29509794  
PMID:29540532   PMID:29568061   PMID:29802200   PMID:29845934   PMID:30033366   PMID:31059266   PMID:31091453   PMID:31586073   PMID:31722399   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
MRPL13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8120,380,761 - 120,445,402 (-)EnsemblGRCh38hg38GRCh38
GRCh388120,395,437 - 120,445,150 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378121,407,676 - 121,457,390 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,477,264 - 121,526,828 (-)NCBINCBI36hg18NCBI36
Build 348121,477,264 - 121,526,828NCBI
Celera8117,597,215 - 117,646,764 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,728,727 - 116,778,273 (-)NCBIHuRef
CHM1_18121,448,575 - 121,498,142 (-)NCBICHM1_1
Mrpl13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391555,397,491 - 55,420,708 (-)NCBIGRCm39mm39
GRCm39 Ensembl1555,397,490 - 55,421,144 (-)Ensembl
GRCm381555,534,095 - 55,557,312 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,534,094 - 55,557,748 (-)EnsemblGRCm38mm10GRCm38
MGSCv371555,365,650 - 55,388,867 (-)NCBIGRCm37mm9NCBIm37
MGSCv361555,364,178 - 55,387,395 (-)NCBImm8
Celera1557,066,223 - 57,089,413 (-)NCBICelera
Cytogenetic Map15D1NCBI
Mrpl13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2786,951,541 - 86,973,147 (-)NCBI
Rnor_6.0 Ensembl795,288,376 - 95,310,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0795,288,400 - 95,309,997 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0795,910,453 - 95,932,050 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4792,047,293 - 92,068,851 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1792,081,523 - 92,103,081 (-)NCBI
Celera783,744,495 - 83,766,052 (-)NCBICelera
Cytogenetic Map7q32NCBI
Mrpl13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541725,792,163 - 25,824,618 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541725,792,315 - 25,824,163 (-)NCBIChiLan1.0ChiLan1.0
MRPL13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18119,856,492 - 119,903,642 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,856,492 - 119,903,642 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08117,087,845 - 117,135,142 (-)NCBIMhudiblu_PPA_v0panPan3
MRPL13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11319,266,373 - 19,313,754 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1319,266,531 - 19,313,657 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1319,278,922 - 19,326,400 (-)NCBI
ROS_Cfam_1.01319,595,983 - 19,644,225 (-)NCBI
UMICH_Zoey_3.11319,322,627 - 19,370,124 (-)NCBI
UNSW_CanFamBas_1.01319,422,446 - 19,469,907 (-)NCBI
UU_Cfam_GSD_1.01319,655,547 - 19,703,025 (-)NCBI
Mrpl13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530318,960,394 - 18,998,381 (+)NCBI
SpeTri2.0NW_00493647026,386,511 - 26,424,480 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPL13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl418,608,883 - 18,671,519 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1418,608,919 - 18,671,523 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2419,634,625 - 19,696,797 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MRPL13
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,973,598 - 115,023,276 (-)NCBI
ChlSab1.1 Ensembl8114,973,210 - 115,023,248 (-)Ensembl
Mrpl13
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476318,196,758 - 18,228,758 (-)NCBI

Position Markers
STS-N34296  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q22.1-q22.3UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1200
Count of miRNA genes:664
Interacting mature miRNAs:736
Transcripts:ENST00000306185, ENST00000518696, ENST00000518918, ENST00000520677, ENST00000521648, ENST00000522717, ENST00000523316
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 2301 1959 1567 504 1100 354 3815 1755 2457 382 1376 1498 164 1181 2392 3
Low 138 997 159 120 817 111 542 441 1277 36 84 115 11 1 22 396 3 2
Below cutoff 35 34 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_014078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB049640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF243677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN362173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB899267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB910114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB932238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB949017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB953748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB957079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC956676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC967523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC989647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD006427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD011158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD014489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306185   ⟹   ENSP00000306548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,395,437 - 120,445,150 (-)Ensembl
RefSeq Acc Id: ENST00000518696   ⟹   ENSP00000428867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,395,437 - 120,445,402 (-)Ensembl
RefSeq Acc Id: ENST00000518918   ⟹   ENSP00000430545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,413,991 - 120,445,092 (-)Ensembl
RefSeq Acc Id: ENST00000520677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,419,656 - 120,445,099 (-)Ensembl
RefSeq Acc Id: ENST00000521648   ⟹   ENSP00000428229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,380,761 - 120,414,112 (-)Ensembl
RefSeq Acc Id: ENST00000522717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,395,847 - 120,414,191 (-)Ensembl
RefSeq Acc Id: ENST00000613356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,395,848 - 120,416,079 (-)Ensembl
RefSeq Acc Id: NM_014078   ⟹   NP_054797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,395,437 - 120,445,150 (-)NCBI
GRCh378121,408,083 - 121,457,647 (-)RGD
Build 368121,477,264 - 121,526,828 (-)NCBI Archive
Celera8117,597,215 - 117,646,764 (-)RGD
HuRef8116,728,727 - 116,778,273 (-)RGD
CHM1_18121,448,575 - 121,498,142 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054797   ⟸   NM_014078
- UniProtKB: Q9BYD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000306548   ⟸   ENST00000306185
RefSeq Acc Id: ENSP00000430545   ⟸   ENST00000518918
RefSeq Acc Id: ENSP00000428867   ⟸   ENST00000518696
RefSeq Acc Id: ENSP00000428229   ⟸   ENST00000521648

Promoters
RGD ID:7214081
Promoter ID:EPDNEW_H12787
Type:initiation region
Name:MRPL13_1
Description:mitochondrial ribosomal protein L13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12788  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,445,150 - 120,445,210EPDNEW
RGD ID:7214143
Promoter ID:EPDNEW_H12788
Type:initiation region
Name:MRPL13_2
Description:mitochondrial ribosomal protein L13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12787  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,445,404 - 120,445,464EPDNEW
RGD ID:6806880
Promoter ID:HG_KWN:61996
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_014078,   NM_022045,   UC003YPB.1,   UC010MDF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368121,525,956 - 121,526,672 (+)MPROMDB
RGD ID:6852946
Promoter ID:EP74292
Type:initiation region
Name:HS_MRPL13
Description:Mitochondrial ribosomal protein L13.
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 368121,526,571 - 121,526,631EPD

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(chr8:241530-145054634)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 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 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
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 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 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
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 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 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
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 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
NM_014078.6(MRPL13):c.28-7C>T single nucleotide variant not provided [RCV000969546] Chr8:120443315 [GRCh38]
Chr8:121455555 [GRCh37]
Chr8:8q24.12
benign
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 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 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:14278 AgrOrtholog
COSMIC MRPL13 COSMIC
Ensembl Genes ENSG00000172172 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000306548 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428229 UniProtKB/TrEMBL
  ENSP00000428867 UniProtKB/TrEMBL
  ENSP00000430545 UniProtKB/TrEMBL
Ensembl Transcript ENST00000306185 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518696 UniProtKB/TrEMBL
  ENST00000518918 UniProtKB/TrEMBL
  ENST00000521648 UniProtKB/TrEMBL
Gene3D-CATH 3.90.1180.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172172 GTEx
HGNC ID HGNC:14278 ENTREZGENE
Human Proteome Map MRPL13 Human Proteome Map
InterPro Ribosomal_L13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L13_bac-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L13_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L13_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28998 UniProtKB/Swiss-Prot
NCBI Gene 28998 ENTREZGENE
OMIM 610200 OMIM
PANTHER PTHR11545 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_L13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30942 PharmGKB
PIRSF Ribosomal_L13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RIBOSOMAL_L13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52161 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs rplM_bact UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFI2_HUMAN UniProtKB/TrEMBL
  E5RJI7_HUMAN UniProtKB/TrEMBL
  H0YAX3_HUMAN UniProtKB/TrEMBL
  Q9BYD1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R4R8 UniProtKB/Swiss-Prot
  Q9UI04 UniProtKB/Swiss-Prot