MRPL43 (mitochondrial ribosomal protein L43) - Rat Genome Database

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Gene: MRPL43 (mitochondrial ribosomal protein L43) Homo sapiens
Analyze
Symbol: MRPL43
Name: mitochondrial ribosomal protein L43
RGD ID: 1316878
HGNC Page HGNC:14517
Description: Enables RNA binding activity. Predicted to be involved in mitochondrial translation. Located in mitochondrion. Part of mitochondrial large ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 39S ribosomal protein L43, mitochondrial; bMRP36a; L43mt; large ribosomal subunit protein mL43; MGC17989; MGC48892; mitochondrial large ribosomal subunit protein mL43; mitochondrial ribosomal protein bMRP36a; mL43; MRP-L43
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
GRCh3810100,977,820 - 100,987,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10100,969,458 - 100,987,515 (-)EnsemblGRCh38hg38GRCh38
GRCh3710102,737,577 - 102,747,254 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,727,569 - 102,737,262 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410102,731,123 - 102,737,262NCBI
Celera1096,475,300 - 96,484,994 (-)NCBICelera
Cytogenetic Map10q24.31NCBI
HuRef1096,366,592 - 96,376,599 (-)NCBIHuRef
CHM1_110103,021,788 - 103,031,482 (-)NCBICHM1_1
T2T-CHM13v2.010101,861,195 - 101,870,872 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11279069   PMID:11543634   PMID:12477932   PMID:12706105   PMID:14702039   PMID:15489334   PMID:15509589   PMID:16385451   PMID:17207965   PMID:17353931   PMID:19738201   PMID:20186120  
PMID:20360068   PMID:20877624   PMID:21145461   PMID:21873635   PMID:22623428   PMID:22658674   PMID:22939629   PMID:23402259   PMID:23602568   PMID:24981860   PMID:25278503   PMID:25324306  
PMID:25416956   PMID:26186194   PMID:26496610   PMID:27023846   PMID:27591049   PMID:28065597   PMID:28514442   PMID:28533407   PMID:28695742   PMID:28892042   PMID:29229926   PMID:29395067  
PMID:29568061   PMID:29802200   PMID:30033366   PMID:30209976   PMID:30404004   PMID:30833792   PMID:31091453   PMID:31871319   PMID:31932471   PMID:31980649   PMID:32203420   PMID:32628020  
PMID:32707033   PMID:32814053   PMID:32877691   PMID:33060197   PMID:33147064   PMID:33957083   PMID:33961781   PMID:33989516   PMID:34079125   PMID:34373451   PMID:34800366   PMID:35013218  
PMID:35044719   PMID:35140242   PMID:35253629   PMID:35384245   PMID:35659240   PMID:35765761   PMID:35944360   PMID:36215168   PMID:36244648   PMID:36424410   PMID:37071682   PMID:37167062  
PMID:37314216  


Genomics

Comparative Map Data
MRPL43
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810100,977,820 - 100,987,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10100,969,458 - 100,987,515 (-)EnsemblGRCh38hg38GRCh38
GRCh3710102,737,577 - 102,747,254 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,727,569 - 102,737,262 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410102,731,123 - 102,737,262NCBI
Celera1096,475,300 - 96,484,994 (-)NCBICelera
Cytogenetic Map10q24.31NCBI
HuRef1096,366,592 - 96,376,599 (-)NCBIHuRef
CHM1_110103,021,788 - 103,031,482 (-)NCBICHM1_1
T2T-CHM13v2.010101,861,195 - 101,870,872 (-)NCBIT2T-CHM13v2.0
Mrpl43
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391944,993,584 - 44,994,860 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1944,993,268 - 44,994,881 (-)EnsemblGRCm39 Ensembl
GRCm381945,005,014 - 45,006,442 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1945,004,829 - 45,006,442 (-)EnsemblGRCm38mm10GRCm38
MGSCv371945,079,504 - 45,080,932 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361945,058,325 - 45,059,753 (-)NCBIMGSCv36mm8
Celera1945,775,659 - 45,777,087 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.19NCBI
Mrpl43
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81253,816,009 - 253,817,441 (-)NCBIGRCr8
mRatBN7.21243,866,848 - 243,868,285 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1243,866,931 - 243,868,281 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1252,014,531 - 252,015,954 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01258,712,414 - 258,713,839 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01251,364,548 - 251,365,981 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01264,755,537 - 264,756,404 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1264,755,538 - 264,756,546 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01272,197,964 - 272,198,767 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41250,072,419 - 250,073,222 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11250,331,065 - 250,333,825 (-)NCBI
Celera1239,678,606 - 239,679,409 (-)NCBICelera
Cytogenetic Map1q54NCBI
Mrpl43
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554859,198,796 - 9,200,250 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554859,198,795 - 9,200,250 (+)NCBIChiLan1.0ChiLan1.0
MRPL43
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28112,871,317 - 112,872,494 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110112,876,652 - 112,877,814 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01097,587,546 - 97,588,785 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110101,063,824 - 101,065,069 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10101,059,043 - 101,064,998 (-)Ensemblpanpan1.1panPan2
MRPL43
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12813,674,401 - 13,675,648 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2813,674,834 - 13,675,622 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2813,843,903 - 13,845,164 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02814,142,503 - 14,143,764 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2814,142,936 - 14,143,724 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12813,688,248 - 13,689,509 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02813,729,539 - 13,730,800 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02813,861,509 - 13,862,770 (-)NCBIUU_Cfam_GSD_1.0
Mrpl43
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721333,093,341 - 33,094,465 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366004,696,560 - 4,701,777 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366004,696,560 - 4,697,690 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPL43
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14112,066,338 - 112,070,232 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114112,068,678 - 112,070,226 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214121,828,055 - 121,829,608 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MRPL43
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1994,004,894 - 94,006,151 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl994,005,285 - 94,006,111 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604855,056,488 - 55,057,778 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrpl43
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624831591,420 - 592,419 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624831591,121 - 592,422 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MRPL43
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_176792.2(MRPL43):c.611C>T (p.Pro204Leu) single nucleotide variant Malignant melanoma [RCV000061981] Chr10:100979290 [GRCh38]
Chr10:102739047 [GRCh37]
Chr10:102729037 [NCBI36]
Chr10:10q24.31
not provided
NM_017893.4(SEMA4G):c.1709C>T (p.Pro570Leu) single nucleotide variant not specified [RCV004255061] Chr10:100983308 [GRCh38]
Chr10:102743065 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_017893.4(SEMA4G):c.1741C>T (p.Arg581Trp) single nucleotide variant not specified [RCV004302720] Chr10:100983340 [GRCh38]
Chr10:102743097 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_017893.4(SEMA4G):c.1501A>G (p.Ile501Val) single nucleotide variant not provided [RCV000970866] Chr10:100980855 [GRCh38]
Chr10:102740612 [GRCh37]
Chr10:10q24.31
benign
NM_017893.4(SEMA4G):c.1374C>T (p.Ala458=) single nucleotide variant not provided [RCV000967178] Chr10:100980600 [GRCh38]
Chr10:102740357 [GRCh37]
Chr10:10q24.31
benign
NM_017893.4(SEMA4G):c.1632C>T (p.Ser544=) single nucleotide variant not provided [RCV000967179] Chr10:100980986 [GRCh38]
Chr10:102740743 [GRCh37]
Chr10:10q24.31
benign
NM_017893.4(SEMA4G):c.1789C>T (p.Arg597Trp) single nucleotide variant not provided [RCV000898378] Chr10:100983388 [GRCh38]
Chr10:102743145 [GRCh37]
Chr10:10q24.31
benign
NM_017893.4(SEMA4G):c.446C>A (p.Ala149Asp) single nucleotide variant not specified [RCV004281656] Chr10:100978305 [GRCh38]
Chr10:102738062 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1067A>T (p.Gln356Leu) single nucleotide variant not specified [RCV004281780] Chr10:100979931 [GRCh38]
Chr10:102739688 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.891A>G (p.Pro297=) single nucleotide variant not provided [RCV000949338] Chr10:100979179 [GRCh38]
Chr10:102738936 [GRCh37]
Chr10:10q24.31
benign
NM_176794.2(MRPL43):c.649C>T (p.Arg217Ter) single nucleotide variant not provided [RCV000897097] Chr10:100983761 [GRCh38]
Chr10:102743518 [GRCh37]
Chr10:10q24.31
likely benign
NM_017893.4(SEMA4G):c.1790G>A (p.Arg597Gln) single nucleotide variant not specified [RCV004663814] Chr10:100983389 [GRCh38]
Chr10:102743146 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.923T>C (p.Leu308Pro) single nucleotide variant not specified [RCV004663817] Chr10:100979211 [GRCh38]
Chr10:102738968 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1655T>C (p.Ile552Thr) single nucleotide variant not specified [RCV004663819] Chr10:100981179 [GRCh38]
Chr10:102740936 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1093T>C (p.Tyr365His) single nucleotide variant not specified [RCV004663820] Chr10:100979957 [GRCh38]
Chr10:102739714 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2335C>A (p.Pro779Thr) single nucleotide variant not specified [RCV004663821] Chr10:100983934 [GRCh38]
Chr10:102743691 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1395G>A (p.Met465Ile) single nucleotide variant not specified [RCV004663813] Chr10:100980621 [GRCh38]
Chr10:102740378 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1624A>G (p.Asn542Asp) single nucleotide variant not specified [RCV004663816] Chr10:100980978 [GRCh38]
Chr10:102740735 [GRCh37]
Chr10:10q24.31
uncertain significance
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1
uncertain significance
NM_017893.4(SEMA4G):c.2143C>G (p.Arg715Gly) single nucleotide variant not specified [RCV004663818] Chr10:100983742 [GRCh38]
Chr10:102743499 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1148G>A (p.Arg383His) single nucleotide variant not specified [RCV004667088] Chr10:100980141 [GRCh38]
Chr10:102739898 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_032112.3(MRPL43):c.101G>C (p.Ser34Thr) single nucleotide variant not specified [RCV004146805] Chr10:100987343 [GRCh38]
Chr10:102747100 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_032112.3(MRPL43):c.52G>A (p.Gly18Arg) single nucleotide variant not specified [RCV004125975] Chr10:100987392 [GRCh38]
Chr10:102747149 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.505C>T (p.Arg169Cys) single nucleotide variant not specified [RCV004187094] Chr10:100978364 [GRCh38]
Chr10:102738121 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1846C>T (p.Arg616Cys) single nucleotide variant not specified [RCV004080505] Chr10:100983445 [GRCh38]
Chr10:102743202 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2080C>T (p.Leu694Phe) single nucleotide variant not specified [RCV004154156] Chr10:100983679 [GRCh38]
Chr10:102743436 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_032112.3(MRPL43):c.410C>T (p.Pro137Leu) single nucleotide variant not specified [RCV004237634] Chr10:100986804 [GRCh38]
Chr10:102746561 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1814G>T (p.Ser605Ile) single nucleotide variant not specified [RCV004135758] Chr10:100983413 [GRCh38]
Chr10:102743170 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.628A>G (p.Met210Val) single nucleotide variant not specified [RCV004235980] Chr10:100978625 [GRCh38]
Chr10:102738382 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1088G>A (p.Gly363Asp) single nucleotide variant not specified [RCV004218595] Chr10:100979952 [GRCh38]
Chr10:102739709 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1036G>A (p.Ala346Thr) single nucleotide variant not specified [RCV004199976] Chr10:100979900 [GRCh38]
Chr10:102739657 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.986A>G (p.Lys329Arg) single nucleotide variant not specified [RCV004141872] Chr10:100979850 [GRCh38]
Chr10:102739607 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1817T>C (p.Met606Thr) single nucleotide variant not specified [RCV004185465] Chr10:100983416 [GRCh38]
Chr10:102743173 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1495G>A (p.Gly499Arg) single nucleotide variant not specified [RCV004204682] Chr10:100980849 [GRCh38]
Chr10:102740606 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1933C>T (p.Arg645Cys) single nucleotide variant not specified [RCV004129213] Chr10:100983532 [GRCh38]
Chr10:102743289 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1094A>G (p.Tyr365Cys) single nucleotide variant not specified [RCV004229229] Chr10:100979958 [GRCh38]
Chr10:102739715 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2495C>G (p.Thr832Arg) single nucleotide variant not specified [RCV004236685] Chr10:100984094 [GRCh38]
Chr10:102743851 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.979C>G (p.Gln327Glu) single nucleotide variant not specified [RCV004118910] Chr10:100979267 [GRCh38]
Chr10:102739024 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.474G>C (p.Glu158Asp) single nucleotide variant not specified [RCV004203617] Chr10:100978333 [GRCh38]
Chr10:102738090 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1997C>G (p.Ala666Gly) single nucleotide variant not specified [RCV004167903] Chr10:100983596 [GRCh38]
Chr10:102743353 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.670G>A (p.Val224Met) single nucleotide variant not specified [RCV004132744] Chr10:100978875 [GRCh38]
Chr10:102738632 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1592C>A (p.Thr531Asn) single nucleotide variant not specified [RCV004212175] Chr10:100980946 [GRCh38]
Chr10:102740703 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.535G>A (p.Gly179Ser) single nucleotide variant not specified [RCV004236250] Chr10:100978532 [GRCh38]
Chr10:102738289 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1828G>A (p.Asp610Asn) single nucleotide variant not specified [RCV004099163] Chr10:100983427 [GRCh38]
Chr10:102743184 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1741C>G (p.Arg581Gly) single nucleotide variant not specified [RCV004270421] Chr10:100983340 [GRCh38]
Chr10:102743097 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2471G>A (p.Arg824His) single nucleotide variant not specified [RCV004260125] Chr10:100984070 [GRCh38]
Chr10:102743827 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1940T>C (p.Leu647Pro) single nucleotide variant not specified [RCV004252953] Chr10:100983539 [GRCh38]
Chr10:102743296 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2177G>A (p.Gly726Glu) single nucleotide variant not specified [RCV004254911] Chr10:100983776 [GRCh38]
Chr10:102743533 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_032112.3(MRPL43):c.250G>C (p.Val84Leu) single nucleotide variant not specified [RCV004261423] Chr10:100986964 [GRCh38]
Chr10:102746721 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.586C>T (p.Arg196Trp) single nucleotide variant not specified [RCV004262688] Chr10:100978583 [GRCh38]
Chr10:102738340 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1730G>A (p.Arg577His) single nucleotide variant not specified [RCV004269821] Chr10:100983329 [GRCh38]
Chr10:102743086 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_017893.4(SEMA4G):c.902C>T (p.Thr301Ile) single nucleotide variant not specified [RCV004340850] Chr10:100979190 [GRCh38]
Chr10:102738947 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1562G>A (p.Arg521Gln) single nucleotide variant not specified [RCV004355147] Chr10:100980916 [GRCh38]
Chr10:102740673 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1249C>T (p.Arg417Trp) single nucleotide variant not specified [RCV004336540] Chr10:100980242 [GRCh38]
Chr10:102739999 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_032112.3(MRPL43):c.65A>G (p.Tyr22Cys) single nucleotide variant not specified [RCV004497746] Chr10:100987379 [GRCh38]
Chr10:102747136 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1024G>A (p.Ala342Thr) single nucleotide variant not specified [RCV004450666] Chr10:100979888 [GRCh38]
Chr10:102739645 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1039G>A (p.Val347Ile) single nucleotide variant not specified [RCV004450667] Chr10:100979903 [GRCh38]
Chr10:102739660 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1742G>C (p.Arg581Pro) single nucleotide variant not specified [RCV004450670] Chr10:100983341 [GRCh38]
Chr10:102743098 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1870G>C (p.Val624Leu) single nucleotide variant not specified [RCV004450671] Chr10:100983469 [GRCh38]
Chr10:102743226 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2420G>A (p.Ser807Asn) single nucleotide variant not specified [RCV004450675] Chr10:100984019 [GRCh38]
Chr10:102743776 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2520G>C (p.Glu840Asp) single nucleotide variant not specified [RCV004450676] Chr10:100984119 [GRCh38]
Chr10:102743876 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.506G>A (p.Arg169His) single nucleotide variant not specified [RCV004450681] Chr10:100978365 [GRCh38]
Chr10:102738122 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.785G>A (p.Arg262His) single nucleotide variant not specified [RCV004450683] Chr10:100978990 [GRCh38]
Chr10:102738747 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1603G>A (p.Ala535Thr) single nucleotide variant not specified [RCV004450669] Chr10:100980957 [GRCh38]
Chr10:102740714 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.681C>G (p.Ser227Arg) single nucleotide variant not specified [RCV004450682] Chr10:100978886 [GRCh38]
Chr10:102738643 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.1078C>T (p.Arg360Trp) single nucleotide variant not specified [RCV004450668] Chr10:100979942 [GRCh38]
Chr10:102739699 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_017893.4(SEMA4G):c.2062G>A (p.Ala688Thr) single nucleotide variant not specified [RCV004450672] Chr10:100983661 [GRCh38]
Chr10:102743418 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_032112.3(MRPL43):c.292T>G (p.Ser98Ala) single nucleotide variant not specified [RCV004638186] Chr10:100986922 [GRCh38]
Chr10:102746679 [GRCh37]
Chr10:10q24.31
likely benign
NM_032112.3(MRPL43):c.369C>A (p.Asn123Lys) single nucleotide variant not specified [RCV004638187] Chr10:100986845 [GRCh38]
Chr10:102746602 [GRCh37]
Chr10:10q24.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3412
Count of miRNA genes:1071
Interacting mature miRNAs:1329
Transcripts:ENST00000299179, ENST00000318325, ENST00000318364, ENST00000342071, ENST00000370234, ENST00000370236, ENST00000370241, ENST00000370242, ENST00000448244, ENST00000476012, ENST00000477279, ENST00000487059, ENST00000493646, ENST00000523148
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
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597468920GWAS1564994_Hretinal nerve fibre layer thickness measurement QTL GWAS1564994 (human)1e-08retinal layer morphology trait (VT:0003727)10100987072100987073Human
597452425GWAS1548499_Hserum gamma-glutamyl transferase measurement QTL GWAS1548499 (human)1e-11serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)10100980303100980304Human
597427731GWAS1523805_Hserum gamma-glutamyl transferase measurement QTL GWAS1523805 (human)3e-15serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)10100980303100980304Human

Markers in Region
A004R30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,746,070 - 102,746,270UniSTSGRCh37
Build 3610102,736,060 - 102,736,260RGDNCBI36
Celera1096,483,792 - 96,483,992RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.31UniSTS
HuRef1096,375,397 - 96,375,597UniSTS
GeneMap99-GB4 RH Map10483.85UniSTS
NCBI RH Map101122.0UniSTS
STS-W80406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,745,393 - 102,745,614UniSTSGRCh37
Build 3610102,735,383 - 102,735,604RGDNCBI36
Celera1096,483,115 - 96,483,336RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.31UniSTS
HuRef1096,374,720 - 96,374,941UniSTS
GeneMap99-GB4 RH Map10482.2UniSTS
D10S1629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,745,153 - 102,745,271UniSTSGRCh37
Build 3610102,735,143 - 102,735,261RGDNCBI36
Celera1096,482,875 - 96,482,993RGD
Cytogenetic Map10q24.31UniSTS
HuRef1096,374,480 - 96,374,598UniSTS
SHGC-24148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,745,184 - 102,745,293UniSTSGRCh37
Build 3610102,735,174 - 102,735,283RGDNCBI36
Celera1096,482,906 - 96,483,015RGD
Cytogenetic Map10q24.31UniSTS
HuRef1096,374,511 - 96,374,620UniSTS
TNG Radiation Hybrid Map1047692.0UniSTS
Stanford-G3 RH Map104597.0UniSTS
GeneMap99-G3 RH Map104833.0UniSTS
STS-D11794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,746,032 - 102,746,169UniSTSGRCh37
Build 3610102,736,022 - 102,736,159RGDNCBI36
Celera1096,483,754 - 96,483,891RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.31UniSTS
HuRef1096,375,359 - 96,375,496UniSTS
GeneMap99-GB4 RH Map10478.66UniSTS
D10S2273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,745,151 - 102,745,372UniSTSGRCh37
Build 3610102,735,141 - 102,735,362RGDNCBI36
Celera1096,482,873 - 96,483,094RGD
Cytogenetic Map10q24.31UniSTS
HuRef1096,374,478 - 96,374,699UniSTS
GeneMap99-GB4 RH Map10487.48UniSTS
Whitehead-RH Map10578.7UniSTS
NCBI RH Map101126.7UniSTS
MRPL43__3690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,745,949 - 102,746,715UniSTSGRCh37
Build 3610102,735,939 - 102,736,705RGDNCBI36
Celera1096,483,671 - 96,484,437RGD
HuRef1096,375,276 - 96,376,042UniSTS


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

Nucleotide Sequences
RefSeq Transcripts NG_011646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007062007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB049656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW513604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG620490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM455058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU072283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU597385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000299179   ⟹   ENSP00000299179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,981,376 - 100,987,494 (-)Ensembl
Ensembl Acc Id: ENST00000318325   ⟹   ENSP00000315364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,977,821 - 100,987,497 (-)Ensembl
Ensembl Acc Id: ENST00000318364   ⟹   ENSP00000315948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,986,269 - 100,987,497 (-)Ensembl
Ensembl Acc Id: ENST00000342071   ⟹   ENSP00000339844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,981,377 - 100,987,515 (-)Ensembl
Ensembl Acc Id: ENST00000370234   ⟹   ENSP00000359254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,986,280 - 100,987,483 (-)Ensembl
Ensembl Acc Id: ENST00000370236   ⟹   ENSP00000359256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,986,274 - 100,987,483 (-)Ensembl
Ensembl Acc Id: ENST00000370241   ⟹   ENSP00000359261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,978,729 - 100,987,456 (-)Ensembl
Ensembl Acc Id: ENST00000370242   ⟹   ENSP00000359262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,979,198 - 100,987,497 (-)Ensembl
Ensembl Acc Id: ENST00000448244   ⟹   ENSP00000408806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,981,376 - 100,987,433 (-)Ensembl
Ensembl Acc Id: ENST00000476012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,981,376 - 100,987,270 (-)Ensembl
Ensembl Acc Id: ENST00000477279   ⟹   ENSP00000471004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,986,276 - 100,987,515 (-)Ensembl
Ensembl Acc Id: ENST00000487059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,986,588 - 100,987,513 (-)Ensembl
Ensembl Acc Id: ENST00000493646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,986,276 - 100,987,286 (-)Ensembl
Ensembl Acc Id: ENST00000523148   ⟹   ENSP00000430369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,969,458 - 100,987,196 (-)Ensembl
RefSeq Acc Id: NM_001308396   ⟹   NP_001295325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,986,269 - 100,987,497 (-)NCBI
CHM1_110103,030,236 - 103,031,486 (-)NCBI
T2T-CHM13v2.010101,869,644 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394981   ⟹   NP_001381910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,977,820 - 100,987,497 (-)NCBI
T2T-CHM13v2.010101,861,195 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394982   ⟹   NP_001381911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,977,820 - 100,987,497 (-)NCBI
T2T-CHM13v2.010101,861,195 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394983   ⟹   NP_001381912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,977,820 - 100,987,497 (-)NCBI
T2T-CHM13v2.010101,861,195 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032112   ⟹   NP_115488
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,986,269 - 100,987,497 (-)NCBI
GRCh3710102,737,579 - 102,747,272 (-)RGD
Build 3610102,736,017 - 102,737,262 (-)NCBI Archive
Celera1096,475,300 - 96,484,994 (-)RGD
HuRef1096,366,592 - 96,376,599 (-)ENTREZGENE
CHM1_110103,030,237 - 103,031,482 (-)NCBI
T2T-CHM13v2.010101,869,644 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176792   ⟹   NP_789762
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,977,820 - 100,987,497 (-)NCBI
GRCh3710102,737,579 - 102,747,272 (-)RGD
Build 3610102,727,569 - 102,737,262 (-)NCBI Archive
Celera1096,475,300 - 96,484,994 (-)RGD
HuRef1096,366,592 - 96,376,599 (-)ENTREZGENE
CHM1_110103,021,788 - 103,031,482 (-)NCBI
T2T-CHM13v2.010101,861,195 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176793   ⟹   NP_789763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,981,376 - 100,987,497 (-)NCBI
GRCh3710102,737,579 - 102,747,272 (-)RGD
Build 3610102,731,124 - 102,737,262 (-)NCBI Archive
Celera1096,475,300 - 96,484,994 (-)RGD
HuRef1096,366,592 - 96,376,599 (-)ENTREZGENE
CHM1_110103,025,343 - 103,031,482 (-)NCBI
T2T-CHM13v2.010101,864,751 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176794   ⟹   NP_789764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,981,376 - 100,987,497 (-)NCBI
GRCh3710102,737,579 - 102,747,272 (-)RGD
Build 3610102,731,124 - 102,737,262 (-)NCBI Archive
Celera1096,475,300 - 96,484,994 (-)RGD
HuRef1096,366,592 - 96,376,599 (-)ENTREZGENE
CHM1_110103,025,343 - 103,031,482 (-)NCBI
T2T-CHM13v2.010101,864,751 - 101,870,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270231   ⟹   XP_005270288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,986,269 - 100,987,497 (-)NCBI
GRCh3710102,737,579 - 102,747,272 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054366956   ⟹   XP_054222931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,869,644 - 101,870,872 (-)NCBI
RefSeq Acc Id: XR_007062007
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,983,755 - 100,987,497 (-)NCBI
RefSeq Acc Id: XR_008488298
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,864,751 - 101,870,872 (-)NCBI
RefSeq Acc Id: XR_008488299
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,867,130 - 101,870,872 (-)NCBI
RefSeq Acc Id: XR_246111
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,981,376 - 100,987,497 (-)NCBI
GRCh3710102,737,579 - 102,747,272 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001295325 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381910 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381911 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381912 (Get FASTA)   NCBI Sequence Viewer  
  NP_115488 (Get FASTA)   NCBI Sequence Viewer  
  NP_789762 (Get FASTA)   NCBI Sequence Viewer  
  NP_789763 (Get FASTA)   NCBI Sequence Viewer  
  NP_789764 (Get FASTA)   NCBI Sequence Viewer  
  XP_005270288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222931 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH15905 (Get FASTA)   NCBI Sequence Viewer  
  AAH31287 (Get FASTA)   NCBI Sequence Viewer  
  AAH41165 (Get FASTA)   NCBI Sequence Viewer  
  AAH52639 (Get FASTA)   NCBI Sequence Viewer  
  AAH53373 (Get FASTA)   NCBI Sequence Viewer  
  BAB40861 (Get FASTA)   NCBI Sequence Viewer  
  BAC04572 (Get FASTA)   NCBI Sequence Viewer  
  BAF83758 (Get FASTA)   NCBI Sequence Viewer  
  BAG62005 (Get FASTA)   NCBI Sequence Viewer  
  EAW49795 (Get FASTA)   NCBI Sequence Viewer  
  EAW49796 (Get FASTA)   NCBI Sequence Viewer  
  EAW49797 (Get FASTA)   NCBI Sequence Viewer  
  EAW49798 (Get FASTA)   NCBI Sequence Viewer  
  EAW49799 (Get FASTA)   NCBI Sequence Viewer  
  EAW49800 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299179
  ENSP00000299179.5
  ENSP00000315364
  ENSP00000315364.2
  ENSP00000315948
  ENSP00000315948.8
  ENSP00000339844
  ENSP00000339844.1
  ENSP00000359254
  ENSP00000359254.4
  ENSP00000359256
  ENSP00000359256.1
  ENSP00000359261
  ENSP00000359261.3
  ENSP00000359262
  ENSP00000359262.4
  ENSP00000408806.1
  ENSP00000430369.1
  ENSP00000471004.1
GenBank Protein Q8N983 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_789762   ⟸   NM_176792
- Peptide Label: isoform b
- UniProtKB: Q8N983 (UniProtKB/Swiss-Prot),   Q86XN1 (UniProtKB/Swiss-Prot),   Q7Z7H6 (UniProtKB/Swiss-Prot),   Q7Z719 (UniProtKB/Swiss-Prot),   Q5JW06 (UniProtKB/Swiss-Prot),   D3DR71 (UniProtKB/Swiss-Prot),   C9J5Q3 (UniProtKB/Swiss-Prot),   B1AL10 (UniProtKB/Swiss-Prot),   B1AL09 (UniProtKB/Swiss-Prot),   B1AL07 (UniProtKB/Swiss-Prot),   B1AL06 (UniProtKB/Swiss-Prot),   Q9BYC7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_789763   ⟸   NM_176793
- Peptide Label: isoform c
- UniProtKB: Q8N983 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_789764   ⟸   NM_176794
- Peptide Label: isoform d
- UniProtKB: Q8N983 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115488   ⟸   NM_032112
- Peptide Label: isoform a
- UniProtKB: A8K4V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005270288   ⟸   XM_005270231
- Peptide Label: isoform X1
- UniProtKB: A8K4V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295325   ⟸   NM_001308396
- Peptide Label: isoform e
- UniProtKB: A8K4V4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000359261   ⟸   ENST00000370241
Ensembl Acc Id: ENSP00000359262   ⟸   ENST00000370242
Ensembl Acc Id: ENSP00000359254   ⟸   ENST00000370234
Ensembl Acc Id: ENSP00000359256   ⟸   ENST00000370236
Ensembl Acc Id: ENSP00000471004   ⟸   ENST00000477279
Ensembl Acc Id: ENSP00000299179   ⟸   ENST00000299179
Ensembl Acc Id: ENSP00000430369   ⟸   ENST00000523148
Ensembl Acc Id: ENSP00000408806   ⟸   ENST00000448244
Ensembl Acc Id: ENSP00000339844   ⟸   ENST00000342071
Ensembl Acc Id: ENSP00000315364   ⟸   ENST00000318325
Ensembl Acc Id: ENSP00000315948   ⟸   ENST00000318364
RefSeq Acc Id: NP_001381912   ⟸   NM_001394983
- Peptide Label: isoform h
- UniProtKB: B1AL05 (UniProtKB/TrEMBL),   A8K4V4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381910   ⟸   NM_001394981
- Peptide Label: isoform f
RefSeq Acc Id: NP_001381911   ⟸   NM_001394982
- Peptide Label: isoform g
RefSeq Acc Id: XP_054222931   ⟸   XM_054366956
- Peptide Label: isoform X1
- UniProtKB: A8K4V4 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N983-F1-model_v2 AlphaFold Q8N983 1-215 view protein structure

Promoters
RGD ID:7218443
Promoter ID:EPDNEW_H14967
Type:initiation region
Name:MRPL43_2
Description:mitochondrial ribosomal protein L43
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14968  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,987,235 - 100,987,295EPDNEW
RGD ID:7218447
Promoter ID:EPDNEW_H14968
Type:initiation region
Name:MRPL43_1
Description:mitochondrial ribosomal protein L43
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,987,497 - 100,987,557EPDNEW
RGD ID:6787536
Promoter ID:HG_KWN:10880
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000318364,   ENST00000338931,   ENST00000370236,   ENST00000370241,   ENST00000370242,   NM_176794,   OTTHUMT00000049902,   OTTHUMT00000049905,   OTTHUMT00000049907,   OTTHUMT00000049909,   OTTHUMT00000049910,   UC001KRZ.1,   UC001KSC.2,   UC001KSE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610102,736,974 - 102,737,474 (-)MPROMDB
RGD ID:6852344
Promoter ID:EP73979
Type:initiation region
Name:HS_MRPL43
Description:Mitochondrial ribosomal protein L43.
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 3610102,737,212 - 102,737,272EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14517 AgrOrtholog
COSMIC MRPL43 COSMIC
Ensembl Genes ENSG00000055950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299179 ENTREZGENE
  ENST00000299179.9 UniProtKB/Swiss-Prot
  ENST00000318325 ENTREZGENE
  ENST00000318325.6 UniProtKB/Swiss-Prot
  ENST00000318364 ENTREZGENE
  ENST00000318364.13 UniProtKB/Swiss-Prot
  ENST00000342071 ENTREZGENE
  ENST00000342071.5 UniProtKB/Swiss-Prot
  ENST00000370234 ENTREZGENE
  ENST00000370234.4 UniProtKB/Swiss-Prot
  ENST00000370236 ENTREZGENE
  ENST00000370236.5 UniProtKB/Swiss-Prot
  ENST00000370241 ENTREZGENE
  ENST00000370241.7 UniProtKB/TrEMBL
  ENST00000370242 ENTREZGENE
  ENST00000370242.8 UniProtKB/Swiss-Prot
  ENST00000448244 ENTREZGENE
  ENST00000448244.5 UniProtKB/TrEMBL
  ENST00000477279.1 UniProtKB/TrEMBL
  ENST00000523148.5 UniProtKB/TrEMBL
Gene3D-CATH Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000055950 GTEx
HGNC ID HGNC:14517 ENTREZGENE
Human Proteome Map MRPL43 Human Proteome Map
InterPro MRPL43/MRPL51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosome/NADH_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84545 UniProtKB/Swiss-Prot
NCBI Gene 84545 ENTREZGENE
OMIM 611848 OMIM
PANTHER 39S RIBOSOMAL PROTEIN L43, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21396 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam L51_S25_CI-B8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30975 PharmGKB
SMART L51_S25_CI-B8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K4V4 ENTREZGENE, UniProtKB/TrEMBL
  B1AL05 ENTREZGENE, UniProtKB/TrEMBL
  B1AL06 ENTREZGENE
  B1AL07 ENTREZGENE
  B1AL09 ENTREZGENE
  B1AL10 ENTREZGENE
  C9J5Q3 ENTREZGENE
  D3DR71 ENTREZGENE
  H0Y6Y8_HUMAN UniProtKB/TrEMBL
  H0YBU8_HUMAN UniProtKB/TrEMBL
  M0R051_HUMAN UniProtKB/TrEMBL
  Q5JW06 ENTREZGENE
  Q7Z719 ENTREZGENE
  Q7Z7H6 ENTREZGENE
  Q86XN0_HUMAN UniProtKB/TrEMBL
  Q86XN1 ENTREZGENE
  Q8N983 ENTREZGENE
  Q9BYC7 ENTREZGENE
  RM43_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B1AL06 UniProtKB/Swiss-Prot
  B1AL07 UniProtKB/Swiss-Prot
  B1AL09 UniProtKB/Swiss-Prot
  B1AL10 UniProtKB/Swiss-Prot
  C9J5Q3 UniProtKB/Swiss-Prot
  D3DR71 UniProtKB/Swiss-Prot
  Q5JW06 UniProtKB/Swiss-Prot
  Q7Z719 UniProtKB/Swiss-Prot
  Q7Z7H6 UniProtKB/Swiss-Prot
  Q86XN1 UniProtKB/Swiss-Prot
  Q9BYC7 UniProtKB/Swiss-Prot