MRPL38 (mitochondrial ribosomal protein L38) - Rat Genome Database

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Gene: MRPL38 (mitochondrial ribosomal protein L38) Homo sapiens
Analyze
Symbol: MRPL38
Name: mitochondrial ribosomal protein L38
RGD ID: 1322502
HGNC Page HGNC:14033
Description: Predicted to be involved in mitochondrial translation. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 39S ribosomal protein L38, mitochondrial; FLJ13996; HSPC262; KIAA1863; L38MT; large ribosomal subunit protein mL38; MGC4810; mitochondrial large ribosomal subunit protein mL38; mL38; MRP-L3; MRP-L38; RPML3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,898,644 - 75,904,884 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,898,644 - 75,905,093 (-)EnsemblGRCh38hg38GRCh38
GRCh371773,894,725 - 73,900,965 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,406,319 - 71,413,069 (-)NCBINCBI36Build 36hg18NCBI36
Build 341771,406,318 - 71,413,069NCBI
Celera1770,484,775 - 70,491,232 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1769,320,370 - 69,326,827 (-)NCBIHuRef
CHM1_11773,959,667 - 73,966,120 (-)NCBICHM1_1
T2T-CHM13v2.01776,791,796 - 76,798,036 (-)NCBIT2T-CHM13v2.0
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
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11347906   PMID:11543634   PMID:12477932   PMID:12706105   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16344560   PMID:17207965   PMID:18029348   PMID:20562859   PMID:21081503  
PMID:21873635   PMID:22113938   PMID:22904065   PMID:22939629   PMID:23402259   PMID:23443559   PMID:23455924   PMID:24981860   PMID:25278503   PMID:25324306   PMID:25416956   PMID:25609649  
PMID:25900982   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26725010   PMID:27023846   PMID:27173435   PMID:27432908   PMID:28514442   PMID:28533407   PMID:28695742  
PMID:28892042   PMID:28973437   PMID:29395067   PMID:29491746   PMID:29509190   PMID:29568061   PMID:29802200   PMID:29845934   PMID:30021884   PMID:30232004   PMID:30471916   PMID:30971721  
PMID:31091453   PMID:31527615   PMID:31586073   PMID:31722399   PMID:31871319   PMID:31980649   PMID:32296183   PMID:32707033   PMID:32877691   PMID:33301849   PMID:33545068   PMID:33957083  
PMID:33961781   PMID:34373451   PMID:34800366   PMID:35013218   PMID:35140242   PMID:35256949   PMID:35337019   PMID:35914814   PMID:35944360   PMID:36215168   PMID:36398858   PMID:36537216  
PMID:36543142   PMID:37071682   PMID:37267103   PMID:37827155   PMID:38113892   PMID:38803224   PMID:39358380  


Genomics

Comparative Map Data
MRPL38
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,898,644 - 75,904,884 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,898,644 - 75,905,093 (-)EnsemblGRCh38hg38GRCh38
GRCh371773,894,725 - 73,900,965 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,406,319 - 71,413,069 (-)NCBINCBI36Build 36hg18NCBI36
Build 341771,406,318 - 71,413,069NCBI
Celera1770,484,775 - 70,491,232 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1769,320,370 - 69,326,827 (-)NCBIHuRef
CHM1_11773,959,667 - 73,966,120 (-)NCBICHM1_1
T2T-CHM13v2.01776,791,796 - 76,798,036 (-)NCBIT2T-CHM13v2.0
Mrpl38
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911116,022,643 - 116,029,694 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11116,022,643 - 116,029,694 (-)EnsemblGRCm39 Ensembl
GRCm3811116,131,817 - 116,138,868 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11116,131,817 - 116,138,868 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,993,131 - 116,000,182 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,947,911 - 115,954,870 (-)NCBIMGSCv36mm8
Celera11127,895,077 - 127,902,124 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.91NCBI
Mrpl38
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,864,242 - 101,871,048 (-)NCBIGRCr8
mRatBN7.210101,365,353 - 101,372,159 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10101,365,353 - 101,372,171 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10106,426,832 - 106,434,716 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,889,928 - 105,897,812 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010101,286,272 - 101,293,078 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010104,682,372 - 104,691,357 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,682,374 - 104,689,178 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010103,596,443 - 103,603,249 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410106,238,696 - 106,245,499 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110106,253,199 - 106,260,003 (-)NCBI
Celera1099,938,748 - 99,945,554 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Mrpl38
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555066,354,994 - 6,361,607 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555066,355,861 - 6,361,107 (+)NCBIChiLan1.0ChiLan1.0
MRPL38
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21991,942,844 - 91,949,396 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11796,767,548 - 96,774,050 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01769,847,907 - 69,854,329 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11775,399,384 - 75,405,874 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,399,384 - 75,405,910 (-)Ensemblpanpan1.1panPan2
MRPL38
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,706,447 - 4,712,442 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,706,529 - 4,712,324 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,386,895 - 5,392,899 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.095,376,854 - 5,382,926 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl95,376,900 - 5,382,934 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.195,416,705 - 5,422,715 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.095,526,332 - 5,532,338 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.095,586,827 - 5,592,913 (+)NCBIUU_Cfam_GSD_1.0
Mrpl38
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,328,986 - 5,333,812 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365941,077,364 - 1,083,006 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365941,078,147 - 1,082,921 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPL38
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,514,415 - 5,521,664 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1125,514,420 - 5,521,671 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,428,283 - 5,435,397 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MRPL38
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11645,788,374 - 45,790,155 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607716,535,017 - 16,541,826 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrpl38
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248015,784,992 - 5,789,839 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248015,784,992 - 5,789,871 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MRPL38
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1 copy number loss See cases [RCV000053453] Chr17:75636351..75970744 [GRCh38]
Chr17:73632431..73966825 [GRCh37]
Chr17:71144026..71478420 [NCBI36]
Chr17:17q25.1
pathogenic
NM_032478.3(MRPL38):c.584C>T (p.Pro195Leu) single nucleotide variant Malignant melanoma [RCV000071671] Chr17:75901719 [GRCh38]
Chr17:73897800 [GRCh37]
Chr17:71409395 [NCBI36]
Chr17:17q25.1
not provided
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3 copy number gain See cases [RCV000240272] Chr17:73870412..74160099 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73886097-73914116)x1 copy number loss See cases [RCV000447829] Chr17:73886097..73914116 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3 copy number gain See cases [RCV000511796] Chr17:73757329..73992584 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3 copy number gain not provided [RCV000683962] Chr17:73414856..74037715 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
GRCh37/hg19 17q25.1(chr17:73871467-73895007)x3 copy number gain not provided [RCV000752201] Chr17:73871467..73895007 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q25.1(chr17:73871467-73897977)x3 copy number gain not provided [RCV000752202] Chr17:73871467..73897977 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q25.1(chr17:73872539-73922221)x1 copy number loss not provided [RCV000752204] Chr17:73872539..73922221 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q25.1(chr17:73872948-73922221)x1 copy number loss not provided [RCV000752205] Chr17:73872948..73922221 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3 copy number gain not provided [RCV000848371] Chr17:73596063..73959466 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003325440] Chr17:72718277..74142256 [GRCh37]
Chr17:17q25.1
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_032478.4(MRPL38):c.334G>A (p.Glu112Lys) single nucleotide variant not specified [RCV004327072] Chr17:75902068 [GRCh38]
Chr17:73898149 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.923A>C (p.Gln308Pro) single nucleotide variant not specified [RCV004222796] Chr17:75899241 [GRCh38]
Chr17:73895322 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1036C>T (p.Arg346Trp) single nucleotide variant not specified [RCV004231109] Chr17:75898957 [GRCh38]
Chr17:73895038 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1037G>A (p.Arg346Gln) single nucleotide variant not specified [RCV004199461] Chr17:75898956 [GRCh38]
Chr17:73895037 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.101C>G (p.Pro34Arg) single nucleotide variant not specified [RCV004226585] Chr17:75904686 [GRCh38]
Chr17:73900767 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.328A>G (p.Ile110Val) single nucleotide variant not specified [RCV004167576] Chr17:75902074 [GRCh38]
Chr17:73898155 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.853G>A (p.Ala285Thr) single nucleotide variant not specified [RCV004206904] Chr17:75899532 [GRCh38]
Chr17:73895613 [GRCh37]
Chr17:17q25.1
likely benign
NM_032478.4(MRPL38):c.101C>T (p.Pro34Leu) single nucleotide variant not specified [RCV004182804] Chr17:75904686 [GRCh38]
Chr17:73900767 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1102C>T (p.Arg368Trp) single nucleotide variant not specified [RCV004226437] Chr17:75898891 [GRCh38]
Chr17:73894972 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1012C>T (p.Arg338Trp) single nucleotide variant not specified [RCV004118649] Chr17:75898981 [GRCh38]
Chr17:73895062 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.406C>T (p.Arg136Trp) single nucleotide variant not specified [RCV004099562] Chr17:75901897 [GRCh38]
Chr17:73897978 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.770C>T (p.Pro257Leu) single nucleotide variant not specified [RCV004223980] Chr17:75899615 [GRCh38]
Chr17:73895696 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.782G>A (p.Arg261Gln) single nucleotide variant not specified [RCV004250056] Chr17:75899603 [GRCh38]
Chr17:73895684 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1103G>A (p.Arg368Gln) single nucleotide variant not specified [RCV004285237] Chr17:75898890 [GRCh38]
Chr17:73894971 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.725G>A (p.Gly242Asp) single nucleotide variant not specified [RCV004329726] Chr17:75899660 [GRCh38]
Chr17:73895741 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.15G>T (p.Trp5Cys) single nucleotide variant not specified [RCV004338426] Chr17:75904861 [GRCh38]
Chr17:73900942 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1067G>A (p.Arg356His) single nucleotide variant not specified [RCV004335162] Chr17:75898926 [GRCh38]
Chr17:73895007 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3 copy number gain not provided [RCV003485164] Chr17:73264158..74039659 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.588C>T (p.Thr196=) single nucleotide variant not provided [RCV003428478] Chr17:75901715 [GRCh38]
Chr17:73897796 [GRCh37]
Chr17:17q25.1
likely benign
NM_032478.4(MRPL38):c.442A>C (p.Lys148Gln) single nucleotide variant not specified [RCV004497543] Chr17:75901861 [GRCh38]
Chr17:73897942 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.994C>A (p.His332Asn) single nucleotide variant not specified [RCV004497567] Chr17:75899170 [GRCh38]
Chr17:73895251 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1079G>A (p.Arg360Gln) single nucleotide variant not specified [RCV004497503] Chr17:75898914 [GRCh38]
Chr17:73894995 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.296G>A (p.Arg99Gln) single nucleotide variant not specified [RCV004497525] Chr17:75902106 [GRCh38]
Chr17:73898187 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.172C>T (p.Arg58Trp) single nucleotide variant not specified [RCV004497520] Chr17:75904615 [GRCh38]
Chr17:73900696 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.589G>A (p.Glu197Lys) single nucleotide variant not specified [RCV004497546] Chr17:75901714 [GRCh38]
Chr17:73897795 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.763C>T (p.Leu255Phe) single nucleotide variant not specified [RCV004497552] Chr17:75899622 [GRCh38]
Chr17:73895703 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1051C>T (p.His351Tyr) single nucleotide variant not specified [RCV004497497] Chr17:75898942 [GRCh38]
Chr17:73895023 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.1084C>T (p.Pro362Ser) single nucleotide variant not specified [RCV004497510] Chr17:75898909 [GRCh38]
Chr17:73894990 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.263T>C (p.Ile88Thr) single nucleotide variant not specified [RCV004497522] Chr17:75902139 [GRCh38]
Chr17:73898220 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.817T>C (p.Phe273Leu) single nucleotide variant not specified [RCV004497562] Chr17:75899568 [GRCh38]
Chr17:73895649 [GRCh37]
Chr17:17q25.1
uncertain significance
NC_000017.10:g.(?_73720784)_(73975154_?)dup duplication Acyl-CoA oxidase deficiency [RCV004581279] Chr17:73720784..73975154 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.26C>T (p.Ala9Val) single nucleotide variant not specified [RCV004631653] Chr17:75904850 [GRCh38]
Chr17:73900931 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.617A>G (p.Tyr206Cys) single nucleotide variant not specified [RCV004638183] Chr17:75901248 [GRCh38]
Chr17:73897329 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_032478.4(MRPL38):c.20G>A (p.Arg7Gln) single nucleotide variant not specified [RCV004631654] Chr17:75904856 [GRCh38]
Chr17:73900937 [GRCh37]
Chr17:17q25.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5831
Count of miRNA genes:1007
Interacting mature miRNAs:1279
Transcripts:ENST00000309352, ENST00000409963, ENST00000410030, ENST00000461602, ENST00000464758, ENST00000471434, ENST00000474548, ENST00000477023, ENST00000477371, ENST00000477736, ENST00000480203, ENST00000483393, ENST00000486101, ENST00000493104, ENST00000493383, ENST00000494179, ENST00000585475, ENST00000588620
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597529385GWAS1625459_HX-12822 measurement QTL GWAS1625459 (human)6e-09X-12822 measurement177590096575900966Human
597168068GWAS1264142_Hwhite matter hyperintensity measurement QTL GWAS1264142 (human)3e-08white matter hyperintensity measurement177590210775902108Human
597434097GWAS1530171_Hprotein measurement QTL GWAS1530171 (human)7e-14protein measurement177589872375898724Human
597168069GWAS1264143_Hwhite matter hyperintensity measurement QTL GWAS1264143 (human)0.0000001white matter hyperintensity measurement177589888275898883Human

Markers in Region
SHGC-37061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,894,896 - 73,895,028UniSTSGRCh37
Build 361771,406,491 - 71,406,623RGDNCBI36
Celera1770,484,947 - 70,485,079RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,542 - 69,320,674UniSTS
Stanford-G3 RH Map173276.0UniSTS
NCBI RH Map17784.6UniSTS
GeneMap99-G3 RH Map173777.0UniSTS
RH46079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,895,282 - 73,895,459UniSTSGRCh37
Build 361771,406,877 - 71,407,054RGDNCBI36
Celera1770,485,333 - 70,485,510RGD
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,928 - 69,321,105UniSTS
RH79813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,894,822 - 73,895,027UniSTSGRCh37
Build 361771,406,417 - 71,406,622RGDNCBI36
Celera1770,484,873 - 70,485,078RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,468 - 69,320,673UniSTS
GeneMap99-GB4 RH Map17479.16UniSTS
D17S1475E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,894,774 - 73,894,890UniSTSGRCh37
Build 361771,406,369 - 71,406,485RGDNCBI36
Celera1770,484,825 - 70,484,941RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,420 - 69,320,536UniSTS
SHGC-155088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,894,587 - 73,894,894UniSTSGRCh37
Build 361771,406,182 - 71,406,489RGDNCBI36
Celera1770,484,638 - 70,484,945RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,233 - 69,320,540UniSTS
TNG Radiation Hybrid Map1733803.0UniSTS
SHGC-132666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,894,738 - 73,894,944UniSTSGRCh37
Build 361771,406,333 - 71,406,539RGDNCBI36
Celera1770,484,789 - 70,484,995RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,384 - 69,320,590UniSTS
TNG Radiation Hybrid Map1733780.0UniSTS
RH78964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,894,771 - 73,894,957UniSTSGRCh37
Build 361771,406,366 - 71,406,552RGDNCBI36
Celera1770,484,822 - 70,485,008RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,417 - 69,320,603UniSTS
GeneMap99-GB4 RH Map17481.92UniSTS
NCBI RH Map17765.1UniSTS
RH15963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,895,282 - 73,895,633UniSTSGRCh37
Celera1770,485,333 - 70,485,684UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1769,320,928 - 69,321,279UniSTS
GeneMap99-GB4 RH Map17483.02UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000309352   ⟹   ENSP00000308275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,898,644 - 75,904,884 (-)Ensembl
Ensembl Acc Id: ENST00000410030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,904,244 - 75,905,093 (-)Ensembl
Ensembl Acc Id: ENST00000461602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,744 - 75,904,882 (-)Ensembl
Ensembl Acc Id: ENST00000464758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,891 - 75,904,901 (-)Ensembl
Ensembl Acc Id: ENST00000471434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,900,795 - 75,901,517 (-)Ensembl
Ensembl Acc Id: ENST00000474548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,660 - 75,902,287 (-)Ensembl
Ensembl Acc Id: ENST00000477023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,899,159 - 75,900,924 (-)Ensembl
Ensembl Acc Id: ENST00000477371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,899,158 - 75,901,424 (-)Ensembl
Ensembl Acc Id: ENST00000477736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,900,812 - 75,904,838 (-)Ensembl
Ensembl Acc Id: ENST00000480203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,898,928 - 75,900,863 (-)Ensembl
Ensembl Acc Id: ENST00000483393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,898,952 - 75,899,868 (-)Ensembl
Ensembl Acc Id: ENST00000486101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,898,644 - 75,899,581 (-)Ensembl
Ensembl Acc Id: ENST00000493104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,183 - 75,904,871 (-)Ensembl
Ensembl Acc Id: ENST00000493383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,555 - 75,904,858 (-)Ensembl
Ensembl Acc Id: ENST00000494179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,237 - 75,904,859 (-)Ensembl
Ensembl Acc Id: ENST00000585475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,901,242 - 75,904,878 (-)Ensembl
Ensembl Acc Id: ENST00000588620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,898,951 - 75,900,473 (-)Ensembl
RefSeq Acc Id: NM_032478   ⟹   NP_115867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,898,644 - 75,904,884 (-)NCBI
GRCh371773,894,724 - 73,901,181 (-)RGD
Build 361771,406,319 - 71,413,069 (-)NCBI Archive
Celera1770,484,775 - 70,491,232 (-)RGD
HuRef1769,320,370 - 69,326,827 (-)ENTREZGENE
CHM1_11773,959,667 - 73,966,120 (-)NCBI
T2T-CHM13v2.01776,791,796 - 76,798,036 (-)NCBI
Sequence:
RefSeq Acc Id: NP_115867   ⟸   NM_032478
- Peptide Label: precursor
- UniProtKB: Q96DV4 (UniProtKB/Swiss-Prot),   Q96Q66 (UniProtKB/Swiss-Prot),   B3KN96 (UniProtKB/Swiss-Prot),   Q9P0B9 (UniProtKB/Swiss-Prot),   B2R894 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000308275   ⟸   ENST00000309352

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96DV4-F1-model_v2 AlphaFold Q96DV4 1-380 view protein structure

Promoters
RGD ID:6794341
Promoter ID:HG_KWN:27133
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000328842,   OTTHUMT00000328843
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,406,966 - 71,407,466 (-)MPROMDB
RGD ID:6794345
Promoter ID:HG_KWN:27136
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:ENST00000409963,   ENST00000410030,   OTTHUMT00000328831,   OTTHUMT00000328832,   OTTHUMT00000328833,   OTTHUMT00000328834,   OTTHUMT00000328836,   OTTHUMT00000328837
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,412,394 - 71,412,894 (-)MPROMDB
RGD ID:7236347
Promoter ID:EPDNEW_H23919
Type:initiation region
Name:MRPL38_1
Description:mitochondrial ribosomal protein L38
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23920  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,904,884 - 75,904,944EPDNEW
RGD ID:7236349
Promoter ID:EPDNEW_H23920
Type:initiation region
Name:MRPL38_2
Description:mitochondrial ribosomal protein L38
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23919  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,905,093 - 75,905,153EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14033 AgrOrtholog
COSMIC MRPL38 COSMIC
Ensembl Genes ENSG00000204316 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000309352 ENTREZGENE
  ENST00000309352.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204316 GTEx
HGNC ID HGNC:14033 ENTREZGENE
Human Proteome Map MRPL38 Human Proteome Map
InterPro PEBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEBP-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEBP_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64978 UniProtKB/Swiss-Prot
NCBI Gene 64978 ENTREZGENE
OMIM 611844 OMIM
PANTHER 39S RIBOSOMAL PROTEIN L38, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30969 PharmGKB
Superfamily-SCOP SSF49777 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R894 ENTREZGENE, UniProtKB/TrEMBL
  B3KN96 ENTREZGENE
  Q96DV4 ENTREZGENE
  Q96Q66 ENTREZGENE
  Q9P0B9 ENTREZGENE
  RM38_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KN96 UniProtKB/Swiss-Prot
  Q96Q66 UniProtKB/Swiss-Prot
  Q9P0B9 UniProtKB/Swiss-Prot