MRPS7 (mitochondrial ribosomal protein S7) - Rat Genome Database

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Gene: MRPS7 (mitochondrial ribosomal protein S7) Homo sapiens
Analyze
Symbol: MRPS7
Name: mitochondrial ribosomal protein S7
RGD ID: 1319351
HGNC Page HGNC:14499
Description: Enables RNA binding activity. Predicted to be involved in mitochondrial translation and ribosomal small subunit assembly. Located in mitochondrion. Part of mitochondrial small ribosomal subunit. Implicated in combined oxidative phosphorylation deficiency 34.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 28S ribosomal protein S7, mitochondrial; 30S ribosomal protein S7 homolog; bMRP-27a; bMRP27a; COXPD34; mitochondrial small ribosomal subunit protein uS7m; MRP-S; MRP-S7; RP-S7; RPMS7; S7mt; small ribosomal subunit protein uS7m; uS7m
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MRPS7P1   MRPS7P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,261,879 - 75,266,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,261,674 - 75,266,376 (+)EnsemblGRCh38hg38GRCh38
GRCh371773,257,960 - 73,262,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,769,385 - 70,774,049 (+)NCBINCBI36Build 36hg18NCBI36
Build 341770,769,384 - 70,774,049NCBI
Celera1769,850,098 - 69,854,805 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,667,941 - 68,672,651 (+)NCBIHuRef
CHM1_11773,322,329 - 73,327,038 (+)NCBICHM1_1
T2T-CHM13v2.01776,153,972 - 76,158,469 (+)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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:10581179   PMID:11042152   PMID:11279123   PMID:11402041   PMID:11543634   PMID:12477932   PMID:12706105   PMID:15342556   PMID:15489334   PMID:16196087  
PMID:17353931   PMID:18029348   PMID:20186120   PMID:20360068   PMID:20877624   PMID:21081503   PMID:21145461   PMID:21873635   PMID:22658674   PMID:22681889   PMID:22904065   PMID:22939629  
PMID:23443559   PMID:23473034   PMID:23973329   PMID:24244333   PMID:24457600   PMID:24981860   PMID:25324306   PMID:25437307   PMID:25556185   PMID:25838379   PMID:25921289   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:27023846   PMID:27025967   PMID:27049334   PMID:27432908   PMID:28027390   PMID:28077445   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28695742  
PMID:28712289   PMID:29229926   PMID:29395067   PMID:29467282   PMID:29568061   PMID:29576527   PMID:29721183   PMID:29802200   PMID:29845934   PMID:30463901   PMID:30471916   PMID:30833792  
PMID:31056398   PMID:31059266   PMID:31076518   PMID:31091453   PMID:31182584   PMID:31527615   PMID:31594818   PMID:31617661   PMID:31685992   PMID:31822558   PMID:31871319   PMID:31980649  
PMID:32129710   PMID:32203420   PMID:32513696   PMID:32628020   PMID:32640226   PMID:32707033   PMID:32807901   PMID:32877691   PMID:33022573   PMID:33187986   PMID:33301849   PMID:33306668  
PMID:33378683   PMID:33499712   PMID:33658012   PMID:33729478   PMID:33957083   PMID:33961781   PMID:33989516   PMID:34079125   PMID:34091597   PMID:34159380   PMID:34349018   PMID:34373451  
PMID:34662580   PMID:34709727   PMID:34732716   PMID:34800366   PMID:35013218   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35915203   PMID:35944360  
PMID:36215168   PMID:36526897   PMID:36779763   PMID:37071682   PMID:37267103   PMID:37314180   PMID:37317656   PMID:37536630   PMID:37827155   PMID:38113892   PMID:38334954   PMID:38803224  


Genomics

Comparative Map Data
MRPS7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,261,879 - 75,266,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,261,674 - 75,266,376 (+)EnsemblGRCh38hg38GRCh38
GRCh371773,257,960 - 73,262,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,769,385 - 70,774,049 (+)NCBINCBI36Build 36hg18NCBI36
Build 341770,769,384 - 70,774,049NCBI
Celera1769,850,098 - 69,854,805 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,667,941 - 68,672,651 (+)NCBIHuRef
CHM1_11773,322,329 - 73,327,038 (+)NCBICHM1_1
T2T-CHM13v2.01776,153,972 - 76,158,469 (+)NCBIT2T-CHM13v2.0
Mrps7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,494,966 - 115,498,862 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,494,751 - 115,498,862 (+)EnsemblGRCm39 Ensembl
GRCm3811115,604,140 - 115,608,036 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,603,925 - 115,608,036 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711115,465,465 - 115,468,938 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,420,241 - 115,423,714 (+)NCBIMGSCv36mm8
Celera11127,371,925 - 127,375,398 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.9NCBI
Mrps7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,342,642 - 101,345,790 (+)NCBIGRCr8
mRatBN7.210100,843,691 - 100,846,838 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10100,843,356 - 100,847,129 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10105,903,893 - 105,907,052 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,366,966 - 105,370,125 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010100,764,663 - 100,767,811 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010104,155,805 - 104,158,840 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,155,805 - 104,158,839 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010104,122,364 - 104,125,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,683,558 - 105,687,212 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110105,698,254 - 105,701,184 (+)NCBI
Celera1099,418,132 - 99,421,278 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Mrps7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555532,124,988 - 2,132,667 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555532,124,988 - 2,128,483 (+)NCBIChiLan1.0ChiLan1.0
MRPS7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21991,301,378 - 91,305,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11796,124,460 - 96,128,991 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01769,208,788 - 69,213,461 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11774,762,057 - 74,766,891 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1774,762,057 - 74,766,891 (+)Ensemblpanpan1.1panPan2
MRPS7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.195,231,612 - 5,235,383 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl95,231,920 - 5,235,383 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,910,581 - 5,914,410 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.095,901,662 - 5,905,491 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl95,888,907 - 5,905,448 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.195,940,418 - 5,944,246 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.096,050,634 - 6,054,463 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.096,110,370 - 6,114,199 (-)NCBIUU_Cfam_GSD_1.0
Mrps7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,859,933 - 5,863,296 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936594548,480 - 556,130 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936594548,480 - 552,026 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPS7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,052,063 - 6,055,668 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,052,109 - 6,055,669 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,813,908 - 5,817,178 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MRPS7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,407,080 - 46,411,753 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1646,404,792 - 46,412,037 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607717,176,801 - 17,181,471 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrps7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248015,073,354 - 5,076,797 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248015,073,341 - 5,077,280 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MRPS7
84 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 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 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_015971.4(MRPS7):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV001703605] Chr17:75261947 [GRCh38]
Chr17:73258028 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_015971.4(MRPS7):c.508-10T>C single nucleotide variant not specified [RCV000427787] Chr17:75265692 [GRCh38]
Chr17:73261773 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.27C>T (p.Ala9=) single nucleotide variant not specified [RCV000438455] Chr17:75261927 [GRCh38]
Chr17:73258008 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val) single nucleotide variant Combined oxidative phosphorylation deficiency 34 [RCV001775790]|not provided [RCV002064923]|not specified [RCV000421254] Chr17:75261905 [GRCh38]
Chr17:73257986 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.84-8C>G single nucleotide variant not provided [RCV001703703] Chr17:75262489 [GRCh38]
Chr17:73258570 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.117T>C (p.Pro39=) single nucleotide variant not provided [RCV001721471] Chr17:75262530 [GRCh38]
Chr17:73258611 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_015971.4(MRPS7):c.645C>T (p.Asn215=) single nucleotide variant not provided [RCV001703700] Chr17:75265839 [GRCh38]
Chr17:73261920 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_015971.4(MRPS7):c.624G>A (p.Lys208=) single nucleotide variant not provided [RCV002062283]|not specified [RCV000433197] Chr17:75265818 [GRCh38]
Chr17:73261899 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.84-14T>C single nucleotide variant not provided [RCV003766368]|not specified [RCV000422892] Chr17:75262483 [GRCh38]
Chr17:73258564 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.508-4C>T single nucleotide variant not specified [RCV000440928] Chr17:75265698 [GRCh38]
Chr17:73261779 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.84-8C>T single nucleotide variant MRPS7-related disorder [RCV004758016]|not provided [RCV001704365] Chr17:75262489 [GRCh38]
Chr17:73258570 [GRCh37]
Chr17:17q25.1
benign|likely benign
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
NM_015971.4(MRPS7):c.84-7dup duplication not provided [RCV003766713]|not specified [RCV000487287] Chr17:75262483..75262484 [GRCh38]
Chr17:73258564..73258565 [GRCh37]
Chr17:17q25.1
benign|likely benign
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
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) single nucleotide variant Combined oxidative phosphorylation deficiency 34 [RCV000579388]|See cases [RCV002252171]|not provided [RCV001860020] Chr17:75265744 [GRCh38]
Chr17:73261825 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3 copy number gain not provided [RCV000585184] Chr17:72901452..73518861 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.334A>G (p.Ile112Val) single nucleotide variant not specified [RCV004310866] Chr17:75262862 [GRCh38]
Chr17:73258943 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.507+18G>T single nucleotide variant not specified [RCV000610932] Chr17:75263525 [GRCh38]
Chr17:73259606 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.3(MRPS7):c.-50G>A single nucleotide variant not specified [RCV000611884] Chr17:75261851 [GRCh38]
Chr17:73257932 [GRCh37]
Chr17:17q25.1
likely benign
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
NM_015971.4(MRPS7):c.66T>C (p.Ala22=) single nucleotide variant MRPS7-related disorder [RCV003917926]|not provided [RCV003565435]|not specified [RCV000602192] Chr17:75261966 [GRCh38]
Chr17:73258047 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.654C>G (p.Pro218=) single nucleotide variant not specified [RCV000606204] Chr17:75265848 [GRCh38]
Chr17:73261929 [GRCh37]
Chr17:17q25.1
likely benign
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(chr17:72962625-73281784)x3 copy number gain not provided [RCV000683960] Chr17:72962625..73281784 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3 copy number gain not provided [RCV000683961] Chr17:73057756..73429731 [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 17q25.1(chr17:73230856-73323772)x3 copy number gain not provided [RCV000739670] Chr17:73230856..73323772 [GRCh37]
Chr17:17q25.1
benign
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
NM_015971.4(MRPS7):c.83+245T>G single nucleotide variant not provided [RCV000830550] Chr17:75262228 [GRCh38]
Chr17:73258309 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.339+153T>C single nucleotide variant not provided [RCV000830552] Chr17:75263020 [GRCh38]
Chr17:73259101 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.84-80C>T single nucleotide variant not provided [RCV000837917] Chr17:75262417 [GRCh38]
Chr17:73258498 [GRCh37]
Chr17:17q25.1
likely benign
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
NM_015971.4(MRPS7):c.84-74T>C single nucleotide variant not provided [RCV000837050] Chr17:75262423 [GRCh38]
Chr17:73258504 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.83+22G>C single nucleotide variant not provided [RCV000835553] Chr17:75262005 [GRCh38]
Chr17:73258086 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.83+23C>G single nucleotide variant Combined oxidative phosphorylation deficiency 34 [RCV001776055]|not provided [RCV000835554] Chr17:75262006 [GRCh38]
Chr17:73258087 [GRCh37]
Chr17:17q25.1
benign
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
NM_015971.4(MRPS7):c.83+23del deletion not provided [RCV001610165] Chr17:75262006 [GRCh38]
Chr17:73258087 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.84-99C>T single nucleotide variant not provided [RCV001682511] Chr17:75262398 [GRCh38]
Chr17:73258479 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.655G>A (p.Val219Met) single nucleotide variant not specified [RCV004289430] Chr17:75265849 [GRCh38]
Chr17:73261930 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.83+29G>T single nucleotide variant not provided [RCV001720805] Chr17:75262012 [GRCh38]
Chr17:73258093 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.*289T>C single nucleotide variant not provided [RCV001669376] Chr17:75266212 [GRCh38]
Chr17:73262293 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.83+21_83+22del deletion not provided [RCV001657665] Chr17:75262004..75262005 [GRCh38]
Chr17:73258085..73258086 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.339+214dup duplication not provided [RCV001710905] Chr17:75263072..75263073 [GRCh38]
Chr17:73259153..73259154 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.593G>A (p.Arg198Gln) single nucleotide variant MRPS7-related disorder [RCV003941058]|not provided [RCV001658402] Chr17:75265787 [GRCh38]
Chr17:73261868 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_015971.4(MRPS7):c.83+137G>T single nucleotide variant not provided [RCV001669061] Chr17:75262120 [GRCh38]
Chr17:73258201 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.339+135C>T single nucleotide variant not provided [RCV001682571] Chr17:75263002 [GRCh38]
Chr17:73259083 [GRCh37]
Chr17:17q25.1
benign
NM_015971.3(MRPS7):c.-169G>T single nucleotide variant not provided [RCV001614050] Chr17:75261732 [GRCh38]
Chr17:73257813 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q25.1(chr17:73218219-73443987)x3 copy number gain not provided [RCV001006918] Chr17:73218219..73443987 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3 copy number gain not provided [RCV001006917] Chr17:72945415..73414786 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.508-1G>A single nucleotide variant Combined oxidative phosphorylation deficiency 34 [RCV001330695] Chr17:75265701 [GRCh38]
Chr17:73261782 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.83+23_83+24del deletion Combined oxidative phosphorylation deficiency 34 [RCV001776277]|not provided [RCV001674993] Chr17:75262005..75262006 [GRCh38]
Chr17:73258086..73258087 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.688G>A (p.Ala230Thr) single nucleotide variant not provided [RCV001755355] Chr17:75265882 [GRCh38]
Chr17:73261963 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.*266T>C single nucleotide variant not provided [RCV001768093] Chr17:75266189 [GRCh38]
Chr17:73262270 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.507+248T>C single nucleotide variant not provided [RCV001769623] Chr17:75263755 [GRCh38]
Chr17:73259836 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.576G>T (p.Arg192=) single nucleotide variant MRPS7-related disorder [RCV003931326]|not provided [RCV001767957] Chr17:75265770 [GRCh38]
Chr17:73261851 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.83+22dup duplication not provided [RCV001752964] Chr17:75262003..75262004 [GRCh38]
Chr17:73258084..73258085 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.508-146C>T single nucleotide variant not provided [RCV001768141] Chr17:75265556 [GRCh38]
Chr17:73261637 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.83+23C>T single nucleotide variant not provided [RCV001757557] Chr17:75262006 [GRCh38]
Chr17:73258087 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.84-8C>A single nucleotide variant not provided [RCV001755602] Chr17:75262489 [GRCh38]
Chr17:73258570 [GRCh37]
Chr17:17q25.1
benign|likely benign
GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3 copy number gain not provided [RCV001827813] Chr17:73045938..73310951 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73049227-73533226) copy number loss not specified [RCV002052605] Chr17:73049227..73533226 [GRCh37]
Chr17:17q25.1
uncertain significance
NC_000017.10:g.(?_73204602)_(73515148_?)dup duplication not provided [RCV001888427] Chr17:73204602..73515148 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.526G>T (p.Asp176Tyr) single nucleotide variant not provided [RCV001887789] Chr17:75265720 [GRCh38]
Chr17:73261801 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.536G>A (p.Arg179His) single nucleotide variant Sensorineural hearing loss disorder [RCV003153251]|not provided [RCV002046962]|not specified [RCV004038841] Chr17:75265730 [GRCh38]
Chr17:73261811 [GRCh37]
Chr17:17q25.1
likely pathogenic|uncertain significance
NM_015971.4(MRPS7):c.339+12T>C single nucleotide variant not provided [RCV002091941] Chr17:75262879 [GRCh38]
Chr17:73258960 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.123C>T (p.Phe41=) single nucleotide variant not provided [RCV002154619] Chr17:75262536 [GRCh38]
Chr17:73258617 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.522A>C (p.Leu174=) single nucleotide variant not provided [RCV002135776] Chr17:75265716 [GRCh38]
Chr17:73261797 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.574C>T (p.Arg192Trp) single nucleotide variant not specified [RCV004213014] Chr17:75265768 [GRCh38]
Chr17:73261849 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.539G>A (p.Arg180His) single nucleotide variant not provided [RCV002617683] Chr17:75265733 [GRCh38]
Chr17:73261814 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.341C>T (p.Thr114Ile) single nucleotide variant not specified [RCV004131380] Chr17:75263341 [GRCh38]
Chr17:73259422 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.268G>A (p.Val90Ile) single nucleotide variant not provided [RCV002949334] Chr17:75262681 [GRCh38]
Chr17:73258762 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.428C>G (p.Thr143Ser) single nucleotide variant MRPS7-related disorder [RCV003936585]|not provided [RCV002619137] Chr17:75263428 [GRCh38]
Chr17:73259509 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.80C>T (p.Pro27Leu) single nucleotide variant not specified [RCV004151745] Chr17:75261980 [GRCh38]
Chr17:73258061 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.224A>T (p.Lys75Ile) single nucleotide variant not provided [RCV002699992] Chr17:75262637 [GRCh38]
Chr17:73258718 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.251C>T (p.Ser84Phe) single nucleotide variant not specified [RCV004121607] Chr17:75262664 [GRCh38]
Chr17:73258745 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.385G>A (p.Ala129Thr) single nucleotide variant not provided [RCV002575665] Chr17:75263385 [GRCh38]
Chr17:73259466 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.199G>C (p.Glu67Gln) single nucleotide variant not provided [RCV002937356]|not specified [RCV004066267] Chr17:75262612 [GRCh38]
Chr17:73258693 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.533G>A (p.Arg178His) single nucleotide variant not provided [RCV002933897] Chr17:75265727 [GRCh38]
Chr17:73261808 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.597A>G (p.Thr199=) single nucleotide variant not provided [RCV003045467] Chr17:75265791 [GRCh38]
Chr17:73261872 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.21G>C (p.Lys7Asn) single nucleotide variant not provided [RCV002578562] Chr17:75261921 [GRCh38]
Chr17:73258002 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV002603431]|not specified [RCV004069031] Chr17:75265769 [GRCh38]
Chr17:73261850 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.508-6A>G single nucleotide variant not provided [RCV003051344] Chr17:75265696 [GRCh38]
Chr17:73261777 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.294G>A (p.Met98Ile) single nucleotide variant not provided [RCV002657775] Chr17:75262822 [GRCh38]
Chr17:73258903 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.144G>C (p.Lys48Asn) single nucleotide variant not specified [RCV004280473] Chr17:75262557 [GRCh38]
Chr17:73258638 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1 copy number loss not provided [RCV003222940] Chr17:72864876..73328878 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter) single nucleotide variant Sensorineural hearing loss disorder [RCV003153253] Chr17:75263373 [GRCh38]
Chr17:73259454 [GRCh37]
Chr17:17q25.1
likely pathogenic
GRCh37/hg19 17q25.1(chr17:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003325440] Chr17:72718277..74142256 [GRCh37]
Chr17:17q25.1
pathogenic
NM_015971.4(MRPS7):c.25G>A (p.Ala9Thr) single nucleotide variant not provided [RCV003873401] Chr17:75261925 [GRCh38]
Chr17:73258006 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.62G>A (p.Arg21Gln) single nucleotide variant not provided [RCV003722566] Chr17:75261962 [GRCh38]
Chr17:73258043 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3 copy number gain not provided [RCV003485163] Chr17:73259444..73533226 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.699C>T (p.Asn233=) single nucleotide variant not provided [RCV003428468] Chr17:75265893 [GRCh38]
Chr17:73261974 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.84-7C>A single nucleotide variant not provided [RCV003811032] Chr17:75262490 [GRCh38]
Chr17:73258571 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.339+16C>T single nucleotide variant not provided [RCV003817396] Chr17:75262883 [GRCh38]
Chr17:73258964 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.704C>T (p.Ala235Val) single nucleotide variant not provided [RCV003725342] Chr17:75265898 [GRCh38]
Chr17:73261979 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.582A>G (p.Lys194=) single nucleotide variant not provided [RCV003839518] Chr17:75265776 [GRCh38]
Chr17:73261857 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.275+20_275+21del deletion not provided [RCV003672278] Chr17:75262708..75262709 [GRCh38]
Chr17:73258789..73258790 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.83+23_83+25del microsatellite not provided [RCV003858289] Chr17:75262002..75262004 [GRCh38]
Chr17:73258083..73258085 [GRCh37]
Chr17:17q25.1
benign
NM_015971.4(MRPS7):c.701G>A (p.Arg234His) single nucleotide variant not provided [RCV003557039] Chr17:75265895 [GRCh38]
Chr17:73261976 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.605C>T (p.Pro202Leu) single nucleotide variant not provided [RCV003550771] Chr17:75265799 [GRCh38]
Chr17:73261880 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3 copy number gain not specified [RCV003987236] Chr17:72875847..73484159 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.95T>G (p.Val32Gly) single nucleotide variant not provided [RCV003858795] Chr17:75262508 [GRCh38]
Chr17:73258589 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.412G>A (p.Glu138Lys) single nucleotide variant not provided [RCV003729253] Chr17:75263412 [GRCh38]
Chr17:73259493 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.339+16del deletion not provided [RCV003847611] Chr17:75262881 [GRCh38]
Chr17:73258962 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.189A>G (p.Lys63=) single nucleotide variant not provided [RCV003728227] Chr17:75262602 [GRCh38]
Chr17:73258683 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.83+16G>T single nucleotide variant not provided [RCV003853927] Chr17:75261999 [GRCh38]
Chr17:73258080 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.686T>C (p.Met229Thr) single nucleotide variant not provided [RCV003860006] Chr17:75265880 [GRCh38]
Chr17:73261961 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.438T>C (p.His146=) single nucleotide variant MRPS7-related disorder [RCV003952109] Chr17:75263438 [GRCh38]
Chr17:73259519 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.513T>C (p.Pro171=) single nucleotide variant MRPS7-related disorder [RCV003957142] Chr17:75265707 [GRCh38]
Chr17:73261788 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.404C>A (p.Ala135Glu) single nucleotide variant not specified [RCV004498089] Chr17:75263404 [GRCh38]
Chr17:73259485 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.652C>T (p.Pro218Ser) single nucleotide variant not specified [RCV004498106] Chr17:75265846 [GRCh38]
Chr17:73261927 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.11C>G (p.Pro4Arg) single nucleotide variant not specified [RCV004498072] Chr17:75261911 [GRCh38]
Chr17:73257992 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004498095] Chr17:75265732 [GRCh38]
Chr17:73261813 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.523C>G (p.Pro175Ala) single nucleotide variant not specified [RCV004498091] Chr17:75265717 [GRCh38]
Chr17:73261798 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.538C>G (p.Arg180Gly) single nucleotide variant not specified [RCV004638270] Chr17:75265732 [GRCh38]
Chr17:73261813 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_015971.4(MRPS7):c.530G>A (p.Arg177Gln) single nucleotide variant not specified [RCV004638271] Chr17:75265724 [GRCh38]
Chr17:73261805 [GRCh37]
Chr17:17q25.1
likely benign
NM_015971.4(MRPS7):c.457G>A (p.Glu153Lys) single nucleotide variant not specified [RCV004638269] Chr17:75263457 [GRCh38]
Chr17:73259538 [GRCh37]
Chr17:17q25.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2146
Count of miRNA genes:771
Interacting mature miRNAs:879
Transcripts:ENST00000245539, ENST00000577767, ENST00000579002, ENST00000579761, ENST00000581993, ENST00000583407, ENST00000584678
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
597407735GWAS1503809_Hnon-alcoholic fatty liver disease QTL GWAS1503809 (human)4e-08non-alcoholic fatty liver disease177526300275263003Human

Markers in Region
MRPS7_2936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,261,757 - 73,262,311UniSTSGRCh37
Build 361770,773,352 - 70,773,906RGDNCBI36
Celera1769,854,105 - 69,854,659RGD
HuRef1768,671,951 - 68,672,505UniSTS
RH47314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,262,201 - 73,262,361UniSTSGRCh37
Build 361770,773,796 - 70,773,956RGDNCBI36
Celera1769,854,549 - 69,854,709RGD
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.1UniSTS
HuRef1768,672,395 - 68,672,555UniSTS
GeneMap99-GB4 RH Map17475.5UniSTS


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 4973 1726 2351 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000245539   ⟹   ENSP00000245539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,261,879 - 75,266,376 (+)Ensembl
Ensembl Acc Id: ENST00000577767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,262,609 - 75,263,289 (+)Ensembl
Ensembl Acc Id: ENST00000579002   ⟹   ENSP00000463683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,261,912 - 75,266,330 (+)Ensembl
Ensembl Acc Id: ENST00000579761   ⟹   ENSP00000463263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,261,674 - 75,264,490 (+)Ensembl
Ensembl Acc Id: ENST00000581993   ⟹   ENSP00000463870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,262,626 - 75,266,363 (+)Ensembl
Ensembl Acc Id: ENST00000583407   ⟹   ENSP00000462677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,261,961 - 75,266,084 (+)Ensembl
Ensembl Acc Id: ENST00000584678   ⟹   ENSP00000462506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,262,673 - 75,266,373 (+)Ensembl
RefSeq Acc Id: NM_015971   ⟹   NP_057055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,261,879 - 75,266,376 (+)NCBI
GRCh371773,257,749 - 73,262,457 (+)RGD
Build 361770,769,385 - 70,774,049 (+)NCBI Archive
Celera1769,850,098 - 69,854,805 (+)RGD
HuRef1768,667,941 - 68,672,651 (+)ENTREZGENE
CHM1_11773,322,329 - 73,327,038 (+)NCBI
T2T-CHM13v2.01776,153,972 - 76,158,469 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057055   ⟸   NM_015971
- UniProtKB: Q9Y2R9 (UniProtKB/Swiss-Prot),   B2R9N5 (UniProtKB/Swiss-Prot),   Q53GD6 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000463870   ⟸   ENST00000581993
Ensembl Acc Id: ENSP00000462677   ⟸   ENST00000583407
Ensembl Acc Id: ENSP00000462506   ⟸   ENST00000584678
Ensembl Acc Id: ENSP00000245539   ⟸   ENST00000245539
Ensembl Acc Id: ENSP00000463263   ⟸   ENST00000579761
Ensembl Acc Id: ENSP00000463683   ⟸   ENST00000579002
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2R9-F1-model_v2 AlphaFold Q9Y2R9 1-242 view protein structure

Promoters
RGD ID:6794347
Promoter ID:HG_KWN:27089
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014001,   NM_015971,   NM_138619,   NR_033345,   UC002JNI.1,   UC002JNJ.1,   UC002JNL.2,   UC002JNN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,768,586 - 70,769,527 (+)MPROMDB
RGD ID:6853228
Promoter ID:EP74435
Type:initiation region
Name:HS_MRPS7
Description:Mitochondrial ribosomal protein S7.
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 361770,769,555 - 70,769,615EPD
RGD ID:7236281
Promoter ID:EPDNEW_H23886
Type:initiation region
Name:MRPS7_4
Description:mitochondrial ribosomal protein S7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23887  EPDNEW_H23889  EPDNEW_H23890  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,261,030 - 75,261,090EPDNEW
RGD ID:7236285
Promoter ID:EPDNEW_H23887
Type:initiation region
Name:MRPS7_2
Description:mitochondrial ribosomal protein S7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23886  EPDNEW_H23889  EPDNEW_H23890  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,261,309 - 75,261,369EPDNEW
RGD ID:7236287
Promoter ID:EPDNEW_H23889
Type:initiation region
Name:MRPS7_3
Description:mitochondrial ribosomal protein S7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23886  EPDNEW_H23887  EPDNEW_H23890  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,261,668 - 75,261,728EPDNEW
RGD ID:7236293
Promoter ID:EPDNEW_H23890
Type:initiation region
Name:MRPS7_1
Description:mitochondrial ribosomal protein S7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23886  EPDNEW_H23887  EPDNEW_H23889  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,261,894 - 75,261,954EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14499 AgrOrtholog
COSMIC MRPS7 COSMIC
Ensembl Genes ENSG00000125445 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000245539 ENTREZGENE
  ENST00000245539.11 UniProtKB/Swiss-Prot
  ENST00000579002.5 UniProtKB/TrEMBL
  ENST00000579761.5 UniProtKB/TrEMBL
  ENST00000581993.5 UniProtKB/TrEMBL
  ENST00000583407.1 UniProtKB/TrEMBL
  ENST00000584678.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.455.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125445 GTEx
HGNC ID HGNC:14499 ENTREZGENE
Human Proteome Map MRPS7 Human Proteome Map
InterPro Ribosomal_S5/S7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S7_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S7_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51081 UniProtKB/Swiss-Prot
NCBI Gene 51081 ENTREZGENE
OMIM 611974 OMIM
PANTHER PTHR11205 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_S7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31026 PharmGKB
PIRSF RPS7p_RPS7a_RPS5e_RPS7o UniProtKB/TrEMBL
Superfamily-SCOP SSF47973 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R9N5 ENTREZGENE
  J3KSI8_HUMAN UniProtKB/TrEMBL
  J3KSV8_HUMAN UniProtKB/TrEMBL
  J3QKW2_HUMAN UniProtKB/TrEMBL
  J3QLS3_HUMAN UniProtKB/TrEMBL
  J3QQS1_HUMAN UniProtKB/TrEMBL
  Q53GD6 ENTREZGENE
  Q96Q63_HUMAN UniProtKB/TrEMBL
  Q9Y2R9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R9N5 UniProtKB/Swiss-Prot
  Q53GD6 UniProtKB/Swiss-Prot