MRPS14 (mitochondrial ribosomal protein S14) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MRPS14 (mitochondrial ribosomal protein S14) Homo sapiens
Analyze
Symbol: MRPS14
Name: mitochondrial ribosomal protein S14
RGD ID: 1319772
HGNC Page HGNC:14049
Description: Enables RNA binding activity. Involved in mitochondrial translation. Located in mitochondrion and nuclear membrane. Part of mitochondrial small ribosomal subunit. Implicated in combined oxidative phosphorylation deficiency 38.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 28S ribosomal protein S14, mitochondrial; COXPD38; DJ262D12.2; HSMRPS14; mitochondrial 28S ribosomal protein S14; mitochondrial small ribosomal subunit protein uS14m; MRP-S14; S14mt; small ribosomal subunit protein uS14m; uS14m
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
GRCh381175,012,958 - 175,023,425 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1175,010,789 - 175,023,425 (-)EnsemblGRCh38hg38GRCh38
GRCh371174,982,094 - 174,992,561 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,249,751 - 173,259,184 (-)NCBINCBI36Build 36hg18NCBI36
Build 341171,714,784 - 171,724,218NCBI
Celera1148,092,797 - 148,102,230 (-)NCBICelera
Cytogenetic Map1q25.1NCBI
HuRef1146,208,425 - 146,218,922 (-)NCBIHuRef
CHM1_11176,405,063 - 176,415,560 (-)NCBICHM1_1
T2T-CHM13v2.01174,366,714 - 174,377,180 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
mitochondrial translation  (IMP,NAS)
translation  (IBA,IEA,NAS)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10938081   PMID:11279123   PMID:11543634   PMID:12477932   PMID:12706105   PMID:15489334   PMID:16344560   PMID:16710414   PMID:17353931   PMID:18029348   PMID:19615732   PMID:20186120  
PMID:20877624   PMID:21873635   PMID:22681889   PMID:22939629   PMID:23443559   PMID:24189400   PMID:24981860   PMID:25838379   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26496610  
PMID:26949251   PMID:27023846   PMID:27142060   PMID:27432908   PMID:27503909   PMID:28302793   PMID:28514442   PMID:28515276   PMID:29128334   PMID:29229926   PMID:29357390   PMID:29395067  
PMID:29568061   PMID:29802200   PMID:29845934   PMID:30033366   PMID:30209976   PMID:30358850   PMID:31091453   PMID:31182584   PMID:31343991   PMID:31527615   PMID:31871319   PMID:31980649  
PMID:32203420   PMID:32640226   PMID:32707033   PMID:32814053   PMID:32877691   PMID:33658012   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34800366   PMID:35013218  
PMID:35140242   PMID:35235311   PMID:35253629   PMID:35271311   PMID:35337019   PMID:35944360   PMID:36114006   PMID:36273042   PMID:36424410   PMID:36629882   PMID:37071682   PMID:37249651  
PMID:37267103   PMID:38113892   PMID:38697112   PMID:39358380  


Genomics

Comparative Map Data
MRPS14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381175,012,958 - 175,023,425 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1175,010,789 - 175,023,425 (-)EnsemblGRCh38hg38GRCh38
GRCh371174,982,094 - 174,992,561 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,249,751 - 173,259,184 (-)NCBINCBI36Build 36hg18NCBI36
Build 341171,714,784 - 171,724,218NCBI
Celera1148,092,797 - 148,102,230 (-)NCBICelera
Cytogenetic Map1q25.1NCBI
HuRef1146,208,425 - 146,218,922 (-)NCBIHuRef
CHM1_11176,405,063 - 176,415,560 (-)NCBICHM1_1
T2T-CHM13v2.01174,366,714 - 174,377,180 (-)NCBIT2T-CHM13v2.0
Mrps14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,022,785 - 160,028,756 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,022,785 - 160,029,740 (+)EnsemblGRCm39 Ensembl
GRCm381160,195,215 - 160,201,186 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,195,215 - 160,202,170 (+)EnsemblGRCm38mm10GRCm38
MGSCv371162,125,391 - 162,131,317 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361162,031,937 - 162,037,863 (+)NCBIMGSCv36mm8
Celera1162,607,096 - 162,612,942 (+)NCBICelera
Cytogenetic Map1H2.1NCBI
cM Map169.59NCBI
Mrps14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81374,962,597 - 74,968,344 (+)NCBIGRCr8
mRatBN7.21372,429,168 - 72,434,915 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1372,408,558 - 72,434,915 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1375,013,704 - 75,019,477 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01376,306,228 - 76,311,975 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01373,565,777 - 73,571,524 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01377,940,454 - 77,946,201 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1377,940,454 - 77,946,201 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01382,847,625 - 82,853,372 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41375,614,841 - 75,620,588 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11375,629,051 - 75,634,776 (+)NCBI
Celera1372,234,949 - 72,240,696 (+)NCBICelera
Cytogenetic Map13q22NCBI
Mrps14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540614,844,301 - 14,847,389 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540614,844,301 - 14,847,389 (-)NCBIChiLan1.0ChiLan1.0
MRPS14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2174,708,443 - 74,720,406 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1174,382,075 - 74,392,599 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01150,524,532 - 150,535,053 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11154,224,170 - 154,233,193 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1154,222,744 - 154,233,292 (-)Ensemblpanpan1.1panPan2
MRPS14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1724,342,371 - 24,368,519 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha723,868,579 - 23,894,721 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0724,090,104 - 24,116,256 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl724,090,194 - 24,117,251 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1724,002,891 - 24,028,933 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0724,093,887 - 24,120,018 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0724,238,930 - 24,265,074 (+)NCBIUU_Cfam_GSD_1.0
Mrps14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934495,345,293 - 95,349,734 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648113,192,021 - 13,195,806 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648113,192,030 - 13,195,812 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPS14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9117,097,849 - 117,137,110 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19117,097,841 - 117,137,188 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29128,704,598 - 128,715,495 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MRPS14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12554,231,605 - 54,240,724 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2554,231,643 - 54,240,472 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605555,805,432 - 55,814,579 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrps14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247716,975,673 - 6,978,290 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247716,975,680 - 6,978,290 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MRPS14
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 copy number loss See cases [RCV000053917] Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1
pathogenic
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 copy number loss See cases [RCV000053918] Chr1:168314822..175299299 [GRCh38]
Chr1:168284060..175268435 [GRCh37]
Chr1:166550684..173535058 [NCBI36]
Chr1:1q24.2-25.1
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 copy number loss See cases [RCV000239775] Chr1:172742952..181814496 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
GRCh37/hg19 1q25.1(chr1:174934586-174994790)x3 copy number gain not provided [RCV000749235] Chr1:174934586..174994790 [GRCh37]
Chr1:1q25.1
benign
Single allele deletion 1q24q25 microdeletion syndrome [RCV000754969] Chr1:169095250..175778910 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 38 [RCV000766271]|not provided [RCV003326511] Chr1:175014734 [GRCh38]
Chr1:174983870 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_022100.3(MRPS14):c.292C>T (p.Arg98Cys) single nucleotide variant not specified [RCV004309689] Chr1:175014764 [GRCh38]
Chr1:174983900 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.351T>C (p.His117=) single nucleotide variant MRPS14-related disorder [RCV003980657]|not provided [RCV001532082] Chr1:175014705 [GRCh38]
Chr1:174983841 [GRCh37]
Chr1:1q25.1
benign|likely benign
GRCh37/hg19 1q25.1-25.2(chr1:174974791-177024710)x1 copy number loss not provided [RCV001005154] Chr1:174974791..177024710 [GRCh37]
Chr1:1q25.1-25.2
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1 copy number loss not provided [RCV001258486] Chr1:174410914..178743636 [GRCh37]
Chr1:1q25.1-25.2
uncertain significance
NC_000001.11:g.173686375_176083118del deletion Hereditary antithrombin deficiency [RCV001779974] Chr1:173686375..176083118 [GRCh38]
Chr1:1q25.1
pathogenic
NC_000001.11:g.173501975_175305010del deletion Hereditary antithrombin deficiency [RCV001779970] Chr1:173501975..175305010 [GRCh38]
Chr1:1q25.1
pathogenic
NM_022100.3(MRPS14):c.145G>A (p.Asp49Asn) single nucleotide variant not provided [RCV001982727] Chr1:175018477 [GRCh38]
Chr1:174987613 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893) copy number loss not specified [RCV002053725] Chr1:171881608..175899893 [GRCh37]
Chr1:1q24.3-25.1
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) copy number loss not specified [RCV002053713] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
NM_022100.3(MRPS14):c.282G>A (p.Thr94=) single nucleotide variant MRPS14-related disorder [RCV003893144]|not provided [RCV002189465] Chr1:175014774 [GRCh38]
Chr1:174983910 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.20G>T (p.Gly7Val) single nucleotide variant not specified [RCV004151937] Chr1:175023389 [GRCh38]
Chr1:174992525 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.297T>C (p.Gly99=) single nucleotide variant not provided [RCV002781422] Chr1:175014759 [GRCh38]
Chr1:174983895 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.13A>G (p.Met5Val) single nucleotide variant not provided [RCV002643589] Chr1:175023396 [GRCh38]
Chr1:174992532 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.158G>A (p.Arg53His) single nucleotide variant not provided [RCV002642307] Chr1:175018464 [GRCh38]
Chr1:174987600 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.106C>T (p.Arg36Cys) single nucleotide variant not provided [RCV002593753] Chr1:175018516 [GRCh38]
Chr1:174987652 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.330C>A (p.Val110=) single nucleotide variant not provided [RCV003061694] Chr1:175014726 [GRCh38]
Chr1:174983862 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.178A>G (p.Asn60Asp) single nucleotide variant not specified [RCV004097755] Chr1:175018444 [GRCh38]
Chr1:174987580 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.45+4A>G single nucleotide variant not provided [RCV002856840] Chr1:175023360 [GRCh38]
Chr1:174992496 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.108C>T (p.Arg36=) single nucleotide variant MRPS14-related disorder [RCV003973523]|not provided [RCV002900161] Chr1:175018514 [GRCh38]
Chr1:174987650 [GRCh37]
Chr1:1q25.1
benign
NM_022100.3(MRPS14):c.86A>G (p.Tyr29Cys) single nucleotide variant not specified [RCV004099047] Chr1:175018536 [GRCh38]
Chr1:174987672 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.308G>A (p.Arg103His) single nucleotide variant not specified [RCV004198048] Chr1:175014748 [GRCh38]
Chr1:174983884 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.378G>A (p.Ala126=) single nucleotide variant not provided [RCV003061264] Chr1:175014678 [GRCh38]
Chr1:174983814 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.278T>C (p.Met93Thr) single nucleotide variant not provided [RCV002602947] Chr1:175014778 [GRCh38]
Chr1:174983914 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.239G>T (p.Arg80Leu) single nucleotide variant not provided [RCV002611636] Chr1:175014817 [GRCh38]
Chr1:174983953 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.185T>C (p.Ile62Thr) single nucleotide variant not specified [RCV004361353] Chr1:175018437 [GRCh38]
Chr1:174987573 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 copy number loss not provided [RCV003483966] Chr1:164571371..175708060 [GRCh37]
Chr1:1q23.3-25.1
pathogenic
NM_022100.3(MRPS14):c.111T>C (p.Asp37=) single nucleotide variant not provided [RCV003827153] Chr1:175018511 [GRCh38]
Chr1:174987647 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.293G>A (p.Arg98His) single nucleotide variant not provided [RCV003725231] Chr1:175014763 [GRCh38]
Chr1:174983899 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.25C>T (p.Leu9=) single nucleotide variant not provided [RCV003669826] Chr1:175023384 [GRCh38]
Chr1:174992520 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.46-16T>C single nucleotide variant not provided [RCV003813815] Chr1:175018592 [GRCh38]
Chr1:174987728 [GRCh37]
Chr1:1q25.1
likely benign
GRCh37/hg19 1q25.1-25.2(chr1:174833865-176232490)x1 copy number loss not specified [RCV003986562] Chr1:174833865..176232490 [GRCh37]
Chr1:1q25.1-25.2
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not specified [RCV003986506] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3
pathogenic
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1
pathogenic
NM_022100.3(MRPS14):c.331T>C (p.Phe111Leu) single nucleotide variant not provided [RCV003553568] Chr1:175014725 [GRCh38]
Chr1:174983861 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.77G>A (p.Arg26Gln) single nucleotide variant not provided [RCV003853837] Chr1:175018545 [GRCh38]
Chr1:174987681 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.116A>G (p.Lys39Arg) single nucleotide variant not provided [RCV003705959] Chr1:175018506 [GRCh38]
Chr1:174987642 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.335G>A (p.Arg112His) single nucleotide variant not provided [RCV003848319] Chr1:175014721 [GRCh38]
Chr1:174983857 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.49G>T (p.Val17Phe) single nucleotide variant not provided [RCV003564299] Chr1:175018573 [GRCh38]
Chr1:174987709 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.39C>T (p.Phe13=) single nucleotide variant MRPS14-related disorder [RCV003959102] Chr1:175023370 [GRCh38]
Chr1:174992506 [GRCh37]
Chr1:1q25.1
likely benign
NM_022100.3(MRPS14):c.245G>A (p.Ser82Asn) single nucleotide variant not specified [RCV004502531] Chr1:175014811 [GRCh38]
Chr1:174983947 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.124A>G (p.Lys42Glu) single nucleotide variant not specified [RCV004502512] Chr1:175018498 [GRCh38]
Chr1:174987634 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.14T>C (p.Met5Thr) single nucleotide variant not specified [RCV004502515] Chr1:175023395 [GRCh38]
Chr1:174992531 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.43C>G (p.Gln15Glu) single nucleotide variant not specified [RCV004502541] Chr1:175023366 [GRCh38]
Chr1:174992502 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.8C>T (p.Ala3Val) single nucleotide variant not specified [RCV004638220] Chr1:175023401 [GRCh38]
Chr1:174992537 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.109G>T (p.Asp37Tyr) single nucleotide variant not specified [RCV004638222] Chr1:175018513 [GRCh38]
Chr1:174987649 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.325A>G (p.Ile109Val) single nucleotide variant not specified [RCV004638221] Chr1:175014731 [GRCh38]
Chr1:174983867 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_022100.3(MRPS14):c.205-21dup duplication Combined oxidative phosphorylation deficiency 38 [RCV004765414]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:905
Count of miRNA genes:539
Interacting mature miRNAs:583
Transcripts:ENST00000367677, ENST00000476371, ENST00000498253
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
597305802GWAS1401876_Herythrocyte count QTL GWAS1401876 (human)2e-11erythrocyte countred blood cell count (CMO:0000025)1175019827175019828Human
597102802GWAS1198876_Hplatelet crit QTL GWAS1198876 (human)7e-09platelet critplateletcrit (CMO:0001349)1175018880175018881Human
597181295GWAS1277369_Hbody mass index QTL GWAS1277369 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)1175015749175015750Human
407006005GWAS654981_Hneutrophil count QTL GWAS654981 (human)4e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1175017843175017844Human
407080043GWAS729019_Hlongevity QTL GWAS729019 (human)0.0000003longevity1175014071175014072Human
597083628GWAS1179702_Hmyeloid white cell count QTL GWAS1179702 (human)5e-10myeloid white cell countwhite blood cell count (CMO:0000027)1175017843175017844Human

Markers in Region
RH78988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,982,208 - 174,982,365UniSTSGRCh37
Build 361173,248,831 - 173,248,988RGDNCBI36
Celera1148,091,877 - 148,092,034RGD
Cytogenetic Map1q25.1UniSTS
HuRef1146,208,539 - 146,208,696UniSTS
GeneMap99-GB4 RH Map1625.65UniSTS
NCBI RH Map11509.3UniSTS
RH79094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,983,700 - 174,983,844UniSTSGRCh37
Build 361173,250,323 - 173,250,467RGDNCBI36
Celera1148,093,369 - 148,093,513RGD
Cytogenetic Map1q25.1UniSTS
HuRef1146,210,031 - 146,210,175UniSTS
GeneMap99-GB4 RH Map1625.65UniSTS
SHGC-36175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,983,700 - 174,983,799UniSTSGRCh37
Build 361173,250,323 - 173,250,422RGDNCBI36
Celera1148,093,369 - 148,093,468RGD
Cytogenetic Map1q25.1UniSTS
HuRef1146,210,031 - 146,210,130UniSTS
GeneMap99-G3 RH Map16926.0UniSTS
SHGC-37552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,982,113 - 174,982,238UniSTSGRCh37
Build 361173,248,736 - 173,248,861RGDNCBI36
Celera1148,091,782 - 148,091,907RGD
Cytogenetic Map1q25.1UniSTS
HuRef1146,208,444 - 146,208,569UniSTS
Stanford-G3 RH Map16959.0UniSTS
NCBI RH Map11509.3UniSTS
GeneMap99-G3 RH Map16915.0UniSTS
MRPS14_2961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,983,487 - 174,984,029UniSTSGRCh37
Build 361173,250,110 - 173,250,652RGDNCBI36
Celera1148,093,156 - 148,093,698RGD
HuRef1146,209,818 - 146,210,360UniSTS


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: ENST00000367677   ⟹   ENSP00000431220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,014,245 - 175,023,415 (-)Ensembl
Ensembl Acc Id: ENST00000476371   ⟹   ENSP00000420714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,012,958 - 175,023,425 (-)Ensembl
Ensembl Acc Id: ENST00000498253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,010,789 - 175,014,824 (-)Ensembl
RefSeq Acc Id: NM_022100   ⟹   NP_071383
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,012,958 - 175,023,425 (-)NCBI
GRCh371174,982,094 - 174,992,591 (-)ENTREZGENE
Build 361173,249,751 - 173,259,184 (-)NCBI Archive
Celera1148,092,797 - 148,102,230 (-)RGD
HuRef1146,208,425 - 146,218,922 (-)ENTREZGENE
CHM1_11176,405,063 - 176,415,560 (-)NCBI
T2T-CHM13v2.01174,366,714 - 174,377,180 (-)NCBI
Sequence:
RefSeq Acc Id: NR_037606
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,012,958 - 175,023,425 (-)NCBI
GRCh371174,982,094 - 174,992,591 (-)ENTREZGENE
HuRef1146,208,425 - 146,218,922 (-)ENTREZGENE
CHM1_11176,405,063 - 176,415,560 (-)NCBI
T2T-CHM13v2.01174,366,714 - 174,377,180 (-)NCBI
Sequence:
RefSeq Acc Id: NP_071383   ⟸   NM_022100
- UniProtKB: O60783 (UniProtKB/Swiss-Prot),   Q5R358 (UniProtKB/Swiss-Prot),   B2R4A5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000431220   ⟸   ENST00000367677
Ensembl Acc Id: ENSP00000420714   ⟸   ENST00000476371

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60783-F1-model_v2 AlphaFold O60783 1-128 view protein structure

Promoters
RGD ID:6809636
Promoter ID:HG_ACW:4867
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MRPS14.FAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,248,726 - 173,249,226 (-)MPROMDB
RGD ID:6786067
Promoter ID:HG_KWN:6275
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000084416,   UC009WWR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,259,121 - 173,259,621 (-)MPROMDB
RGD ID:6858188
Promoter ID:EPDNEW_H2259
Type:initiation region
Name:MRPS14_1
Description:mitochondrial ribosomal protein S14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,023,425 - 175,023,485EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14049 AgrOrtholog
COSMIC MRPS14 COSMIC
Ensembl Genes ENSG00000120333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367677.3 UniProtKB/TrEMBL
  ENST00000476371 ENTREZGENE
  ENST00000476371.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.1480 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120333 GTEx
HGNC ID HGNC:14049 ENTREZGENE
Human Proteome Map MRPS14 Human Proteome Map
InterPro Ribosomal_S14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:63931 UniProtKB/Swiss-Prot
NCBI Gene 63931 ENTREZGENE
OMIM 611978 OMIM
PANTHER 28S RIBOSOMAL PROTEIN S14, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  30S RIBOSOMAL PROTEIN S14 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam Ribosomal_S14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30998 PharmGKB
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R4A5 ENTREZGENE, UniProtKB/TrEMBL
  F2Z361_HUMAN UniProtKB/TrEMBL
  L8E935_HUMAN UniProtKB/TrEMBL
  O60783 ENTREZGENE
  Q5R358 ENTREZGENE
  Q96Q61_HUMAN UniProtKB/TrEMBL
  RT14_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5R358 UniProtKB/Swiss-Prot