YME1L1 (YME1 like 1 ATPase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: YME1L1 (YME1 like 1 ATPase) Homo sapiens
Analyze
Symbol: YME1L1
Name: YME1 like 1 ATPase
RGD ID: 733459
HGNC Page HGNC:12843
Description: Enables ATP-dependent peptidase activity. Involved in several processes, including mitochondrial protein processing; protein catabolic process; and protein hexamerization. Located in mitochondrial inner membrane and nuclear body. Implicated in optic atrophy 11.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent metalloprotease FtsH1 homolog; ATP-dependent metalloprotease YME1L1; ATP-dependent zinc metalloprotease YME1L1; FTSH; meg-4; MEG4; OPA11; PAMP; presenilin-associated metalloprotease; YME1-like 1 ATPase; YME1-like protein 1; YME1L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420187   YME1L1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381027,110,111 - 27,154,384 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1027,110,111 - 27,155,266 (-)EnsemblGRCh38hg38GRCh38
GRCh371027,399,040 - 27,443,313 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361027,439,389 - 27,483,327 (-)NCBINCBI36Build 36hg18NCBI36
Build 341027,440,668 - 27,483,327NCBI
Celera1027,115,834 - 27,159,778 (-)NCBICelera
Cytogenetic Map10p12.1NCBI
HuRef1027,067,668 - 27,112,050 (-)NCBIHuRef
CHM1_11027,398,978 - 27,443,293 (-)NCBICHM1_1
T2T-CHM13v2.01027,140,165 - 27,184,407 (-)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

Cellular Component
membrane  (HDA,IEA)
mitochondrial inner membrane  (IBA,IDA,IEA,TAS)
mitochondrion  (IDA,IEA)
nuclear body  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Identification and characterization of YME1L1, a novel paraplegin-related gene. Coppola M, etal., Genomics 2000 May 15;66(1):48-54.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10930580   PMID:11042152   PMID:12214059   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16344560   PMID:16385451   PMID:19946888   PMID:20186120  
PMID:20877624   PMID:21873635   PMID:21988832   PMID:22262461   PMID:22939629   PMID:23455922   PMID:23602568   PMID:24104479   PMID:24344204   PMID:25433032   PMID:25737280   PMID:25921289  
PMID:26344197   PMID:26496610   PMID:26618866   PMID:26759378   PMID:26923599   PMID:26972000   PMID:27173435   PMID:27342126   PMID:27495975   PMID:27499296   PMID:27512140   PMID:27786171  
PMID:27880917   PMID:28186131   PMID:28356157   PMID:28514442   PMID:28675297   PMID:28700943   PMID:29229926   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29955894   PMID:30022168  
PMID:30196744   PMID:30598479   PMID:30669930   PMID:30940648   PMID:31073040   PMID:31091453   PMID:31182584   PMID:31240132   PMID:31527615   PMID:31586073   PMID:31617661   PMID:31695197  
PMID:31753913   PMID:32087062   PMID:32203420   PMID:32707033   PMID:32807901   PMID:32811647   PMID:32877691   PMID:32994395   PMID:33155794   PMID:33567341   PMID:33658012   PMID:33731348  
PMID:33853758   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34432599   PMID:34591612   PMID:34709727   PMID:34901782   PMID:34921745   PMID:35253629   PMID:35384245  
PMID:35439318   PMID:35509820   PMID:35563538   PMID:35676246   PMID:35701858   PMID:35906200   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36273042   PMID:36282215  
PMID:36724073   PMID:37063426   PMID:37827155  


Genomics

Comparative Map Data
YME1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381027,110,111 - 27,154,384 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1027,110,111 - 27,155,266 (-)EnsemblGRCh38hg38GRCh38
GRCh371027,399,040 - 27,443,313 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361027,439,389 - 27,483,327 (-)NCBINCBI36Build 36hg18NCBI36
Build 341027,440,668 - 27,483,327NCBI
Celera1027,115,834 - 27,159,778 (-)NCBICelera
Cytogenetic Map10p12.1NCBI
HuRef1027,067,668 - 27,112,050 (-)NCBIHuRef
CHM1_11027,398,978 - 27,443,293 (-)NCBICHM1_1
T2T-CHM13v2.01027,140,165 - 27,184,407 (-)NCBIT2T-CHM13v2.0
Yme1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39223,046,517 - 23,089,272 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl223,046,381 - 23,089,272 (+)EnsemblGRCm39 Ensembl
GRCm38223,155,442 - 23,199,260 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl223,156,369 - 23,199,260 (+)EnsemblGRCm38mm10GRCm38
MGSCv37223,012,066 - 23,054,156 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36222,978,555 - 23,020,645 (+)NCBIMGSCv36mm8
Celera222,888,199 - 22,930,440 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map215.24NCBI
Yme1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81790,195,485 - 90,235,675 (+)NCBIGRCr8
mRatBN7.21785,287,607 - 85,326,068 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1785,287,554 - 85,326,335 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1788,772,231 - 88,810,234 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01792,607,609 - 92,645,612 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01786,624,386 - 86,662,389 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01789,701,899 - 89,741,919 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1789,704,102 - 89,741,321 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1789,800,934 - 89,838,986 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01791,464,149 - 91,504,157 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41796,758,634 - 96,796,686 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11796,769,466 - 96,807,518 (+)NCBI
Celera1783,570,083 - 83,608,132 (-)NCBICelera
Cytogenetic Map17q12.3NCBI
Yme1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554292,549,954 - 2,572,889 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554292,550,611 - 2,572,472 (-)NCBIChiLan1.0ChiLan1.0
YME1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2839,740,191 - 39,784,086 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11039,742,838 - 39,789,413 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01027,220,951 - 27,263,841 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11027,584,093 - 27,626,901 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1027,584,099 - 27,626,453 (-)Ensemblpanpan1.1panPan2
YME1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.126,785,472 - 6,829,188 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl26,737,487 - 6,829,089 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha25,538,660 - 5,582,403 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.024,974,867 - 5,018,866 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl24,972,927 - 5,018,825 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.124,351,996 - 4,395,975 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.024,428,272 - 4,472,481 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.024,595,391 - 4,639,187 (-)NCBIUU_Cfam_GSD_1.0
Yme1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934426,141,811 - 26,187,422 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364842,306,760 - 2,353,507 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364842,306,937 - 2,352,671 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
YME1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11048,807,654 - 48,855,228 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21054,023,860 - 54,063,147 (+)NCBISscrofa10.2Sscrofa10.2susScr3
YME1L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1926,703,747 - 26,752,274 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl926,703,992 - 26,752,340 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605132,716,565 - 32,761,391 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Yme1l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247962,179,170 - 2,215,903 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247962,178,102 - 2,215,837 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in YME1L1
181 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1 copy number loss See cases [RCV000052503] Chr10:27046685..30228891 [GRCh38]
Chr10:27335614..30517820 [GRCh37]
Chr10:27375620..30557826 [NCBI36]
Chr10:10p12.1-11.23		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_001253866.1(YME1L1):c.1137-220C>T single nucleotide variant Lung cancer [RCV000108933] Chr10:27121668 [GRCh38]
Chr10:27410597 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg) single nucleotide variant Optic atrophy 11 [RCV001333036] Chr10:27112068 [GRCh38]
Chr10:27400997 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 copy number gain See cases [RCV000139427] Chr10:19088161..32732293 [GRCh38]
Chr10:19377090..33021221 [GRCh37]
Chr10:19417096..33061227 [NCBI36]
Chr10:10p12.31-11.22		 likely pathogenic
GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1 copy number loss See cases [RCV000139515] Chr10:26823016..30248926 [GRCh38]
Chr10:27111945..30537855 [GRCh37]
Chr10:27151951..30577861 [NCBI36]
Chr10:10p12.1-11.23		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
NM_014263.4(YME1L1):c.859G>A (p.Val287Met) single nucleotide variant Long QT syndrome [RCV000190125] Chr10:27126786 [GRCh38]
Chr10:27415715 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp) single nucleotide variant Optic atrophy 11 [RCV000415698] Chr10:27136371 [GRCh38]
Chr10:27425300 [GRCh37]
Chr10:10p12.1		 pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
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 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p12.1(chr10:26318337-27889818)x3 copy number gain not provided [RCV000737055] Chr10:26318337..27889818 [GRCh37]
Chr10:10p12.1		 likely benign
GRCh37/hg19 10p12.1(chr10:26344939-27889818)x3 copy number gain not provided [RCV000749539] Chr10:26344939..27889818 [GRCh37]
Chr10:10p12.1		 likely benign
GRCh37/hg19 10p12.1(chr10:27266501-27723033)x1 copy number loss not provided [RCV000749553] Chr10:27266501..27723033 [GRCh37]
Chr10:10p12.1		 benign
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_014263.4(YME1L1):c.431-219C>T single nucleotide variant not provided [RCV001707240] Chr10:27136604 [GRCh38]
Chr10:27425533 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.431-128C>T single nucleotide variant not provided [RCV001611488] Chr10:27136513 [GRCh38]
Chr10:27425442 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.33+35C>T single nucleotide variant not provided [RCV001610967] Chr10:27154143 [GRCh38]
Chr10:27443072 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.169-197T>G single nucleotide variant not provided [RCV001680941] Chr10:27145787 [GRCh38]
Chr10:27434716 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1720-57G>A single nucleotide variant not provided [RCV001709437] Chr10:27116402 [GRCh38]
Chr10:27405331 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1980C>T (p.Ile660=) single nucleotide variant not provided [RCV000929499] Chr10:27114548 [GRCh38]
Chr10:27403477 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1929T>C (p.Val643=) single nucleotide variant not provided [RCV000968167] Chr10:27114599 [GRCh38]
Chr10:27403528 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_014263.4(YME1L1):c.754C>T (p.Leu252=) single nucleotide variant not provided [RCV000918025] Chr10:27134060 [GRCh38]
Chr10:27422989 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.720C>G (p.Leu240=) single nucleotide variant not provided [RCV000916562] Chr10:27134094 [GRCh38]
Chr10:27423023 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.308A>T (p.Gln103Leu) single nucleotide variant not provided [RCV000895971] Chr10:27145451 [GRCh38]
Chr10:27434380 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.34-10C>T single nucleotide variant not provided [RCV000937203] Chr10:27149050 [GRCh38]
Chr10:27437979 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.437T>C (p.Ile146Thr) single nucleotide variant not provided [RCV000961995] Chr10:27136379 [GRCh38]
Chr10:27425308 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.168+1261G>A single nucleotide variant not provided [RCV000896652] Chr10:27147645 [GRCh38]
Chr10:27436574 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.251G>A (p.Gly84Glu) single nucleotide variant Inborn genetic diseases [RCV003268142] Chr10:27145508 [GRCh38]
Chr10:27434437 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.950-41T>A single nucleotide variant not provided [RCV001715099] Chr10:27123740 [GRCh38]
Chr10:27412669 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1720-36G>C single nucleotide variant Optic atrophy 11 [RCV002243314]|not provided [RCV001595252] Chr10:27116381 [GRCh38]
Chr10:27405310 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.540+225G>A single nucleotide variant not provided [RCV001716938] Chr10:27136051 [GRCh38]
Chr10:27424980 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.168+170A>G single nucleotide variant not provided [RCV001655194] Chr10:27148736 [GRCh38]
Chr10:27437665 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1920+62C>A single nucleotide variant not provided [RCV001721621] Chr10:27115998 [GRCh38]
Chr10:27404927 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1921-99A>G single nucleotide variant not provided [RCV001693159] Chr10:27114706 [GRCh38]
Chr10:27403635 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1847-34T>C single nucleotide variant not provided [RCV001685068] Chr10:27116167 [GRCh38]
Chr10:27405096 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1299-79C>T single nucleotide variant not provided [RCV001595605] Chr10:27120626 [GRCh38]
Chr10:27409555 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.950-3T>C single nucleotide variant not provided [RCV000947237] Chr10:27123702 [GRCh38]
Chr10:27412631 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.9C>T (p.Ser3=) single nucleotide variant not provided [RCV000910059] Chr10:27154202 [GRCh38]
Chr10:27443131 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1593T>C (p.Ile531=) single nucleotide variant not provided [RCV000892396] Chr10:27117702 [GRCh38]
Chr10:27406631 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.692-10TC[2] microsatellite not provided [RCV000953279] Chr10:27134127..27134128 [GRCh38]
Chr10:27423056..27423057 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.2067C>T (p.Leu689=) single nucleotide variant not provided [RCV000971292] Chr10:27112061 [GRCh38]
Chr10:27400990 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1155T>C (p.Ser385=) single nucleotide variant not provided [RCV000913821] Chr10:27122921 [GRCh38]
Chr10:27411850 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.331+128T>G single nucleotide variant not provided [RCV001721616] Chr10:27145300 [GRCh38]
Chr10:27434229 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.33+95T>C single nucleotide variant not provided [RCV001657515] Chr10:27154083 [GRCh38]
Chr10:27443012 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.34-25G>A single nucleotide variant not provided [RCV001661239] Chr10:27149065 [GRCh38]
Chr10:27437994 [GRCh37]
Chr10:10p12.1		 benign
GRCh37/hg19 10p12.1(chr10:27065576-27549923)x3 copy number gain not provided [RCV002472683] Chr10:27065576..27549923 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1540T>G single nucleotide variant not provided [RCV001689351] Chr10:27147366 [GRCh38]
Chr10:27436295 [GRCh37]
Chr10:10p12.1		 benign
GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3 copy number gain not provided [RCV001006302] Chr10:27302866..28355945 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.*45C>T single nucleotide variant Optic atrophy 11 [RCV002243381]|not provided [RCV001659270] Chr10:27111932 [GRCh38]
Chr10:27400861 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.33+24T>A single nucleotide variant not provided [RCV001654470] Chr10:27154154 [GRCh38]
Chr10:27443083 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1236-109G>A single nucleotide variant not provided [RCV001675420] Chr10:27121557 [GRCh38]
Chr10:27410486 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1720-87dup duplication not provided [RCV001674949] Chr10:27116431..27116432 [GRCh38]
Chr10:27405360..27405361 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.39A>G (p.Thr13=) single nucleotide variant Optic atrophy 11 [RCV002243341]|not provided [RCV001639402] Chr10:27149035 [GRCh38]
Chr10:27437964 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.168+1372_168+1373del deletion not provided [RCV001652551] Chr10:27147533..27147534 [GRCh38]
Chr10:27436462..27436463 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.331+138del deletion not provided [RCV001595466] Chr10:27145290 [GRCh38]
Chr10:27434219 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.949+48_949+49del deletion not provided [RCV001656498] Chr10:27126647..27126648 [GRCh38]
Chr10:27415576..27415577 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.541-110G>A single nucleotide variant not provided [RCV001620615] Chr10:27135091 [GRCh38]
Chr10:27424020 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.430+28A>G single nucleotide variant not provided [RCV001653338] Chr10:27142359 [GRCh38]
Chr10:27431288 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1299-156C>T single nucleotide variant not provided [RCV001676276] Chr10:27120703 [GRCh38]
Chr10:27409632 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1298+77G>T single nucleotide variant not provided [RCV001715424] Chr10:27121309 [GRCh38]
Chr10:27410238 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.205C>T (p.Leu69=) single nucleotide variant not provided [RCV001686687] Chr10:27145554 [GRCh38]
Chr10:27434483 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.168+1269A>G single nucleotide variant YME1L1-related condition [RCV003980758]|not provided [RCV001611022] Chr10:27147637 [GRCh38]
Chr10:27436566 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.691+16A>G single nucleotide variant Optic atrophy 11 [RCV002243412]|not provided [RCV001694569] Chr10:27134815 [GRCh38]
Chr10:27423744 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.2007+192A>T single nucleotide variant not provided [RCV001672126] Chr10:27114329 [GRCh38]
Chr10:27403258 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.168+148_168+154dup duplication not provided [RCV001666912] Chr10:27148751..27148752 [GRCh38]
Chr10:27437680..27437681 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1568-198T>C single nucleotide variant not provided [RCV001693332] Chr10:27117925 [GRCh38]
Chr10:27406854 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.540+184C>T single nucleotide variant not provided [RCV001649230] Chr10:27136092 [GRCh38]
Chr10:27425021 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1103-168T>C single nucleotide variant not provided [RCV001612405] Chr10:27123141 [GRCh38]
Chr10:27412070 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.2008-37A>G single nucleotide variant not provided [RCV001681170] Chr10:27112157 [GRCh38]
Chr10:27401086 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1921-144C>G single nucleotide variant not provided [RCV001668681] Chr10:27114751 [GRCh38]
Chr10:27403680 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.535G>A (p.Val179Met) single nucleotide variant Inborn genetic diseases [RCV003307798]|Microcephaly [RCV001252789] Chr10:27136281 [GRCh38]
Chr10:27425210 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1 copy number loss not provided [RCV001259541] Chr10:27265783..28643506 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.859-191G>T single nucleotide variant not provided [RCV001616814] Chr10:27126977 [GRCh38]
Chr10:27415906 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.2008-7G>A single nucleotide variant Optic atrophy 11 [RCV002243415]|not provided [RCV001690562] Chr10:27112127 [GRCh38]
Chr10:27401056 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.169-155G>A single nucleotide variant not provided [RCV001645458] Chr10:27145745 [GRCh38]
Chr10:27434674 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.332-150C>T single nucleotide variant not provided [RCV001686196] Chr10:27142635 [GRCh38]
Chr10:27431564 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.332-164C>T single nucleotide variant not provided [RCV001686333] Chr10:27142649 [GRCh38]
Chr10:27431578 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.776-166del deletion not provided [RCV001694268] Chr10:27132107 [GRCh38]
Chr10:27421036 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.168+1169G>A single nucleotide variant not provided [RCV001609705] Chr10:27147737 [GRCh38]
Chr10:27436666 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.331+127G>T single nucleotide variant not provided [RCV001655105] Chr10:27145301 [GRCh38]
Chr10:27434230 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.541-16T>C single nucleotide variant Optic atrophy 11 [RCV002243418]|not provided [RCV001688178] Chr10:27134997 [GRCh38]
Chr10:27423926 [GRCh37]
Chr10:10p12.1		 benign
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
NM_014263.4(YME1L1):c.2013A>G (p.Ser671=) single nucleotide variant not provided [RCV002006859] Chr10:27112115 [GRCh38]
Chr10:27401044 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) copy number gain not specified [RCV002052863] Chr10:6273934..34732521 [GRCh37]
Chr10:10p15.1-11.21		 pathogenic
GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1 copy number loss not provided [RCV001827877] Chr10:27204530..29105882 [GRCh37]
Chr10:10p12.1		 pathogenic
NC_000010.10:g.(?_27294519)_(27529617_?)dup duplication not provided [RCV002029363] Chr10:27294519..27529617 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1407C>T single nucleotide variant not provided [RCV001901088] Chr10:27147499 [GRCh38]
Chr10:27436428 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.617C>T (p.Ala206Val) single nucleotide variant not provided [RCV001923442] Chr10:27134905 [GRCh38]
Chr10:27423834 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.2035T>C (p.Leu679=) single nucleotide variant not provided [RCV002108266] Chr10:27112093 [GRCh38]
Chr10:27401022 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.783C>T (p.Phe261=) single nucleotide variant not provided [RCV002112011] Chr10:27131934 [GRCh38]
Chr10:27420863 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.859-17A>T single nucleotide variant not provided [RCV002135147] Chr10:27126803 [GRCh38]
Chr10:27415732 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.168+1234A>G single nucleotide variant not provided [RCV002204403] Chr10:27147672 [GRCh38]
Chr10:27436601 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.294C>G (p.Ser98=) single nucleotide variant not provided [RCV002141513] Chr10:27145465 [GRCh38]
Chr10:27434394 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.540+17dup duplication not provided [RCV002100674] Chr10:27136258..27136259 [GRCh38]
Chr10:27425187..27425188 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1412-5A>G single nucleotide variant not provided [RCV003110286] Chr10:27119454 [GRCh38]
Chr10:27408383 [GRCh37]
Chr10:10p12.1		 likely benign
NC_000010.10:g.(?_27294519)_(27443139_?)dup duplication not provided [RCV003116801] Chr10:27294519..27443139 [GRCh37]
Chr10:10p12.1		 uncertain significance
NC_000010.10:g.(?_26993586)_(28391597_?)dup duplication not provided [RCV003123119] Chr10:26993586..28391597 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.586A>G (p.Lys196Glu) single nucleotide variant Inborn genetic diseases [RCV003277698] Chr10:27134936 [GRCh38]
Chr10:27423865 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1404T>C single nucleotide variant Inborn genetic diseases [RCV003258581] Chr10:27147502 [GRCh38]
Chr10:27436431 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.928C>G (p.Leu310Val) single nucleotide variant not provided [RCV002681396] Chr10:27126717 [GRCh38]
Chr10:27415646 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.419A>G (p.Gln140Arg) single nucleotide variant not provided [RCV002971153] Chr10:27142398 [GRCh38]
Chr10:27431327 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1233_168+1234insAAAACCTCTCTTCCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA insertion not provided [RCV003032494] Chr10:27147672..27147673 [GRCh38]
Chr10:27436601..27436602 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_014263.4(YME1L1):c.243A>G (p.Leu81=) single nucleotide variant not provided [RCV002751275] Chr10:27145516 [GRCh38]
Chr10:27434445 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.278C>G (p.Ser93Cys) single nucleotide variant Optic atrophy 11 [RCV002463423] Chr10:27145481 [GRCh38]
Chr10:27434410 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.805T>A (p.Ser269Thr) single nucleotide variant not provided [RCV002908288] Chr10:27131912 [GRCh38]
Chr10:27420841 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.20C>T (p.Thr7Met) single nucleotide variant Inborn genetic diseases [RCV002733899] Chr10:27154191 [GRCh38]
Chr10:27443120 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.2029C>T (p.His677Tyr) single nucleotide variant not provided [RCV002908349] Chr10:27112099 [GRCh38]
Chr10:27401028 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1041T>C (p.Ser347=) single nucleotide variant not provided [RCV002863159] Chr10:27123608 [GRCh38]
Chr10:27412537 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.785G>A (p.Arg262Gln) single nucleotide variant not provided [RCV002785729] Chr10:27131932 [GRCh38]
Chr10:27420861 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.692-13C>A single nucleotide variant not provided [RCV002848005] Chr10:27134135 [GRCh38]
Chr10:27423064 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.131G>A (p.Arg44Gln) single nucleotide variant not provided [RCV003001844] Chr10:27148943 [GRCh38]
Chr10:27437872 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.792A>G (p.Thr264=) single nucleotide variant not provided [RCV002740076] Chr10:27131925 [GRCh38]
Chr10:27420854 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.168+1417C>T single nucleotide variant YME1L1-related condition [RCV003961133]|not provided [RCV002785991] Chr10:27147489 [GRCh38]
Chr10:27436418 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_014263.4(YME1L1):c.1944T>A (p.Asp648Glu) single nucleotide variant not provided [RCV002846207] Chr10:27114584 [GRCh38]
Chr10:27403513 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.522A>C (p.Ile174=) single nucleotide variant not provided [RCV002735272] Chr10:27136294 [GRCh38]
Chr10:27425223 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1921-9T>C single nucleotide variant not provided [RCV002638787] Chr10:27114616 [GRCh38]
Chr10:27403545 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.738C>T (p.Phe246=) single nucleotide variant not provided [RCV002999440] Chr10:27134076 [GRCh38]
Chr10:27423005 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1286A>G (p.Glu429Gly) single nucleotide variant Inborn genetic diseases [RCV002758798] Chr10:27121398 [GRCh38]
Chr10:27410327 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1642A>G (p.Ile548Val) single nucleotide variant Inborn genetic diseases [RCV002844481] Chr10:27117653 [GRCh38]
Chr10:27406582 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1364G>A single nucleotide variant Inborn genetic diseases [RCV002797416]|not provided [RCV003546885] Chr10:27147542 [GRCh38]
Chr10:27436471 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.613G>A (p.Glu205Lys) single nucleotide variant not provided [RCV003002694] Chr10:27134909 [GRCh38]
Chr10:27423838 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1967C>G (p.Thr656Ser) single nucleotide variant not provided [RCV002949337] Chr10:27114561 [GRCh38]
Chr10:27403490 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1675A>G (p.Ile559Val) single nucleotide variant not provided [RCV002695083] Chr10:27117620 [GRCh38]
Chr10:27406549 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1725C>G (p.Ser575=) single nucleotide variant not provided [RCV002923111] Chr10:27116340 [GRCh38]
Chr10:27405269 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.775+7G>A single nucleotide variant not provided [RCV002596356] Chr10:27134032 [GRCh38]
Chr10:27422961 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.2138T>C (p.Leu713Ser) single nucleotide variant not provided [RCV003041545] Chr10:27111990 [GRCh38]
Chr10:27400919 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1585G>T (p.Val529Leu) single nucleotide variant Inborn genetic diseases [RCV002874046] Chr10:27117710 [GRCh38]
Chr10:27406639 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.553C>T (p.Arg185Trp) single nucleotide variant Inborn genetic diseases [RCV003092617]|not provided [RCV003081989] Chr10:27134969 [GRCh38]
Chr10:27423898 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.950-4T>A single nucleotide variant not provided [RCV002572801] Chr10:27123703 [GRCh38]
Chr10:27412632 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.648G>A (p.Ala216=) single nucleotide variant not provided [RCV002954010] Chr10:27134874 [GRCh38]
Chr10:27423803 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.281A>G (p.His94Arg) single nucleotide variant not provided [RCV003082290] Chr10:27145478 [GRCh38]
Chr10:27434407 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.949+19A>G single nucleotide variant not provided [RCV002642891] Chr10:27126677 [GRCh38]
Chr10:27415606 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1309C>T (p.Arg437Cys) single nucleotide variant not provided [RCV003030726] Chr10:27120537 [GRCh38]
Chr10:27409466 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1886A>T (p.Lys629Met) single nucleotide variant not provided [RCV002675632] Chr10:27116094 [GRCh38]
Chr10:27405023 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.540+7A>C single nucleotide variant not provided [RCV002627664] Chr10:27136269 [GRCh38]
Chr10:27425198 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.430+17A>G single nucleotide variant not provided [RCV002580168] Chr10:27142370 [GRCh38]
Chr10:27431299 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1810G>A (p.Glu604Lys) single nucleotide variant Inborn genetic diseases [RCV002854724] Chr10:27116255 [GRCh38]
Chr10:27405184 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1411+13_1411+17del deletion not provided [RCV002579811] Chr10:27120418..27120422 [GRCh38]
Chr10:27409347..27409351 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.331+17T>C single nucleotide variant not provided [RCV002630195] Chr10:27145411 [GRCh38]
Chr10:27434340 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.380A>G (p.His127Arg) single nucleotide variant not provided [RCV002646004] Chr10:27142437 [GRCh38]
Chr10:27431366 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1830C>T (p.Thr610=) single nucleotide variant not provided [RCV002599108] Chr10:27116235 [GRCh38]
Chr10:27405164 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.246T>C (p.Leu82=) single nucleotide variant not provided [RCV003086077] Chr10:27145513 [GRCh38]
Chr10:27434442 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.1047C>T (p.Ser349=) single nucleotide variant not provided [RCV002629599] Chr10:27123602 [GRCh38]
Chr10:27412531 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1476T>A (p.Leu492=) single nucleotide variant not provided [RCV002715080] Chr10:27119385 [GRCh38]
Chr10:27408314 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.704G>A (p.Arg235Gln) single nucleotide variant not provided [RCV003091171] Chr10:27134110 [GRCh38]
Chr10:27423039 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1414G>A (p.Val472Ile) single nucleotide variant not provided [RCV002922146] Chr10:27119447 [GRCh38]
Chr10:27408376 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.40G>T (p.Val14Phe) single nucleotide variant not provided [RCV002670783] Chr10:27149034 [GRCh38]
Chr10:27437963 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.540+12T>G single nucleotide variant not provided [RCV002600688] Chr10:27136264 [GRCh38]
Chr10:27425193 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.168+1383C>T single nucleotide variant Inborn genetic diseases [RCV002769168] Chr10:27147523 [GRCh38]
Chr10:27436452 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.515A>G (p.Gln172Arg) single nucleotide variant Inborn genetic diseases [RCV002921619] Chr10:27136301 [GRCh38]
Chr10:27425230 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1236-17T>C single nucleotide variant not provided [RCV002627407] Chr10:27121465 [GRCh38]
Chr10:27410394 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.479G>A (p.Arg160His) single nucleotide variant not provided [RCV002602153] Chr10:27136337 [GRCh38]
Chr10:27425266 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1711C>G (p.Leu571Val) single nucleotide variant not provided [RCV002937272] Chr10:27117584 [GRCh38]
Chr10:27406513 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1935C>G (p.Thr645=) single nucleotide variant not provided [RCV002579211] Chr10:27114593 [GRCh38]
Chr10:27403522 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1236-10dup duplication not provided [RCV002602272] Chr10:27121457..27121458 [GRCh38]
Chr10:27410386..27410387 [GRCh37]
Chr10:10p12.1		 benign
NM_014263.4(YME1L1):c.641G>C (p.Gly214Ala) single nucleotide variant not provided [RCV002654152] Chr10:27134881 [GRCh38]
Chr10:27423810 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.332-16T>C single nucleotide variant not provided [RCV002605132] Chr10:27142501 [GRCh38]
Chr10:27431430 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1567+9C>G single nucleotide variant not provided [RCV002658270] Chr10:27119285 [GRCh38]
Chr10:27408214 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.168+1379C>T single nucleotide variant not provided [RCV003070058] Chr10:27147527 [GRCh38]
Chr10:27436456 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1281T>C single nucleotide variant not provided [RCV003092228] Chr10:27147625 [GRCh38]
Chr10:27436554 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.2046T>C (p.His682=) single nucleotide variant not provided [RCV002586669] Chr10:27112082 [GRCh38]
Chr10:27401011 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.2008-15C>T single nucleotide variant not provided [RCV002609632] Chr10:27112135 [GRCh38]
Chr10:27401064 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1952A>G (p.Lys651Arg) single nucleotide variant not provided [RCV002587770] Chr10:27114576 [GRCh38]
Chr10:27403505 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.766T>C (p.Phe256Leu) single nucleotide variant not provided [RCV002608498] Chr10:27134048 [GRCh38]
Chr10:27422977 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1102+13G>T single nucleotide variant not provided [RCV002613031] Chr10:27123534 [GRCh38]
Chr10:27412463 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.271A>G (p.Ile91Val) single nucleotide variant not provided [RCV002814528] Chr10:27145488 [GRCh38]
Chr10:27434417 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.32A>T (p.Gln11Leu) single nucleotide variant not provided [RCV003049925] Chr10:27154179 [GRCh38]
Chr10:27443108 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.190C>T (p.Leu64Phe) single nucleotide variant not provided [RCV002589544] Chr10:27145569 [GRCh38]
Chr10:27434498 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1473C>T single nucleotide variant not provided [RCV003222668] Chr10:27147433 [GRCh38]
Chr10:27436362 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1888C>T (p.Arg630Trp) single nucleotide variant Inborn genetic diseases [RCV003207224] Chr10:27116092 [GRCh38]
Chr10:27405021 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1383G>T (p.Trp461Cys) single nucleotide variant Inborn genetic diseases [RCV003175997]|not provided [RCV003779659] Chr10:27120463 [GRCh38]
Chr10:27409392 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.112G>A (p.Val38Ile) single nucleotide variant Inborn genetic diseases [RCV003219448] Chr10:27148962 [GRCh38]
Chr10:27437891 [GRCh37]
Chr10:10p12.1		 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_014263.4(YME1L1):c.1834C>T (p.His612Tyr) single nucleotide variant Inborn genetic diseases [RCV003344661] Chr10:27116231 [GRCh38]
Chr10:27405160 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.490A>G (p.Thr164Ala) single nucleotide variant Inborn genetic diseases [RCV003367653] Chr10:27136326 [GRCh38]
Chr10:27425255 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1467G>A (p.Leu489=) single nucleotide variant not provided [RCV003873019] Chr10:27119394 [GRCh38]
Chr10:27408323 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.949+16T>C single nucleotide variant not provided [RCV003570696] Chr10:27126680 [GRCh38]
Chr10:27415609 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.2030A>G (p.His677Arg) single nucleotide variant not provided [RCV003876926] Chr10:27112098 [GRCh38]
Chr10:27401027 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.858G>A (p.Gly286=) single nucleotide variant not provided [RCV003662777] Chr10:27131859 [GRCh38]
Chr10:27420788 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.950-18G>A single nucleotide variant not provided [RCV003879851] Chr10:27123717 [GRCh38]
Chr10:27412646 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1115C>T (p.Ala372Val) single nucleotide variant not provided [RCV003577966] Chr10:27122961 [GRCh38]
Chr10:27411890 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.640G>A (p.Gly214Ser) single nucleotide variant not provided [RCV003713999] Chr10:27134882 [GRCh38]
Chr10:27423811 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1102+3A>G single nucleotide variant not provided [RCV003739464] Chr10:27123544 [GRCh38]
Chr10:27412473 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.4T>A (p.Phe2Ile) single nucleotide variant not provided [RCV003690215] Chr10:27154207 [GRCh38]
Chr10:27443136 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.266A>T (p.Lys89Ile) single nucleotide variant not provided [RCV003576513] Chr10:27145493 [GRCh38]
Chr10:27434422 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.540+19G>A single nucleotide variant not provided [RCV003877460] Chr10:27136257 [GRCh38]
Chr10:27425186 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1651T>C (p.Tyr551His) single nucleotide variant not provided [RCV003664332] Chr10:27117644 [GRCh38]
Chr10:27406573 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1847-12A>G single nucleotide variant not provided [RCV003723545] Chr10:27116145 [GRCh38]
Chr10:27405074 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.88T>G (p.Ser30Ala) single nucleotide variant not provided [RCV003726196] Chr10:27148986 [GRCh38]
Chr10:27437915 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1921-20T>A single nucleotide variant not provided [RCV003840365] Chr10:27114627 [GRCh38]
Chr10:27403556 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.961G>T (p.Val321Phe) single nucleotide variant not provided [RCV003668419] Chr10:27123688 [GRCh38]
Chr10:27412617 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.254T>A (p.Phe85Tyr) single nucleotide variant not provided [RCV003724031] Chr10:27145505 [GRCh38]
Chr10:27434434 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.486G>A (p.Gln162=) single nucleotide variant not provided [RCV003558313] Chr10:27136330 [GRCh38]
Chr10:27425259 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.1921-13C>A single nucleotide variant not provided [RCV003667938] Chr10:27114620 [GRCh38]
Chr10:27403549 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.949+11T>G single nucleotide variant not provided [RCV003813987] Chr10:27126685 [GRCh38]
Chr10:27415614 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.332-4C>G single nucleotide variant not provided [RCV003712041] Chr10:27142489 [GRCh38]
Chr10:27431418 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.534C>T (p.Phe178=) single nucleotide variant not provided [RCV003846273] Chr10:27136282 [GRCh38]
Chr10:27425211 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.847C>T (p.His283Tyr) single nucleotide variant not provided [RCV003847549] Chr10:27131870 [GRCh38]
Chr10:27420799 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.691+19A>G single nucleotide variant not provided [RCV003674548] Chr10:27134812 [GRCh38]
Chr10:27423741 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.89C>G (p.Ser30Cys) single nucleotide variant not provided [RCV003734812] Chr10:27148985 [GRCh38]
Chr10:27437914 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1567+12T>G single nucleotide variant not provided [RCV003840636] Chr10:27119282 [GRCh38]
Chr10:27408211 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.647C>T (p.Ala216Val) single nucleotide variant not provided [RCV003872427] Chr10:27134875 [GRCh38]
Chr10:27423804 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.303T>G (p.Ser101=) single nucleotide variant not provided [RCV003733118] Chr10:27145456 [GRCh38]
Chr10:27434385 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.496G>A (p.Glu166Lys) single nucleotide variant not provided [RCV003732299] Chr10:27136320 [GRCh38]
Chr10:27425249 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.168+1226C>T single nucleotide variant not provided [RCV003823947] Chr10:27147680 [GRCh38]
Chr10:27436609 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.431-19A>G single nucleotide variant not provided [RCV003868106] Chr10:27136404 [GRCh38]
Chr10:27425333 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.168+1407C>G single nucleotide variant not provided [RCV003737121] Chr10:27147499 [GRCh38]
Chr10:27436428 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1 copy number loss not specified [RCV003986880] Chr10:25646101..30715668 [GRCh37]
Chr10:10p12.1-11.23		 pathogenic
NM_014263.4(YME1L1):c.962T>C (p.Val321Ala) single nucleotide variant not provided [RCV003733436] Chr10:27123687 [GRCh38]
Chr10:27412616 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.691+15_691+16inv inversion not provided [RCV003843370] Chr10:27134815..27134816 [GRCh38]
Chr10:27423744..27423745 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.1411+19A>T single nucleotide variant not provided [RCV003858397] Chr10:27120416 [GRCh38]
Chr10:27409345 [GRCh37]
Chr10:10p12.1		 likely benign
NM_014263.4(YME1L1):c.717T>G (p.Ile239Met) single nucleotide variant not provided [RCV003861616] Chr10:27134097 [GRCh38]
Chr10:27423026 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_014263.4(YME1L1):c.692-4C>T single nucleotide variant YME1L1-related condition [RCV003933875] Chr10:27134126 [GRCh38]
Chr10:27423055 [GRCh37]
Chr10:10p12.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2205
Count of miRNA genes:821
Interacting mature miRNAs:940
Transcripts:ENST00000326799, ENST00000375972, ENST00000376016, ENST00000396296, ENST00000427324, ENST00000463270, ENST00000477432, ENST00000491542
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH66293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,399,508 - 27,399,587UniSTSGRCh37
Build 361027,439,514 - 27,439,593RGDNCBI36
Celera1027,115,959 - 27,116,038RGD
Cytogenetic Map10p14UniSTS
HuRef1027,068,136 - 27,068,215UniSTS
GeneMap99-GB4 RH Map10167.08UniSTS
RH93714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,434,456 - 27,434,539UniSTSGRCh37
Build 361027,474,462 - 27,474,545RGDNCBI36
Celera1027,150,910 - 27,150,993RGD
Cytogenetic Map10p14UniSTS
HuRef1027,103,152 - 27,103,235UniSTS
GeneMap99-GB4 RH Map10191.58UniSTS
RH25555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,772,850 - 54,772,961UniSTSGRCh37
GRCh371027,400,845 - 27,400,955UniSTSGRCh37
Build 361027,440,851 - 27,440,961RGDNCBI36
Celera1951,813,509 - 51,813,620UniSTS
Celera1027,117,296 - 27,117,406RGD
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23.1UniSTS
HuRef1951,100,491 - 51,100,602UniSTS
HuRef1027,069,473 - 27,069,583UniSTS
SHGC-105218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,418,163 - 27,418,474UniSTSGRCh37
Build 361027,458,169 - 27,458,480RGDNCBI36
Celera1027,134,614 - 27,134,925RGD
Cytogenetic Map10p14UniSTS
HuRef1027,086,778 - 27,087,089UniSTS
STS-N30424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,399,511 - 27,399,634UniSTSGRCh37
Build 361027,439,517 - 27,439,640RGDNCBI36
Celera1027,115,962 - 27,116,085RGD
Cytogenetic Map10p14UniSTS
HuRef1027,068,139 - 27,068,262UniSTS
GeneMap99-GB4 RH Map10194.93UniSTS
REN92160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,771,867 - 54,772,120UniSTSGRCh37
Build 361959,463,679 - 59,463,932RGDNCBI36
Celera1951,812,526 - 51,812,779RGD
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map19q13.4UniSTS
HuRef1951,099,508 - 51,099,761UniSTS
T03326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,399,495 - 27,399,594UniSTSGRCh37
Build 361027,439,501 - 27,439,600RGDNCBI36
Celera1027,115,946 - 27,116,045RGD
Cytogenetic Map10p14UniSTS
HuRef1027,068,123 - 27,068,222UniSTS
G20575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,399,440 - 27,399,675UniSTSGRCh37
Build 361027,439,446 - 27,439,681RGDNCBI36
Celera1027,115,891 - 27,116,126RGD
Cytogenetic Map10p14UniSTS
HuRef1027,068,068 - 27,068,303UniSTS
A005X27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,399,440 - 27,399,675UniSTSGRCh37
Build 361027,439,446 - 27,439,681RGDNCBI36
Celera1027,115,891 - 27,116,126RGD
Cytogenetic Map10p14UniSTS
HuRef1027,068,068 - 27,068,303UniSTS
GeneMap99-GB4 RH Map10167.68UniSTS
NCBI RH Map10429.9UniSTS
SHGC-32086  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q23.1UniSTS
Stanford-G3 RH Map101355.0UniSTS
NCBI RH Map10444.0UniSTS
GeneMap99-G3 RH Map101355.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2689 1660 561 1797 403 4357 2065 3088 392 1445 1610 173 1 1203 2788 5
Low 9 302 66 63 154 62 132 646 27 15 3 2 1 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF018171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI042625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA395557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA489399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB871143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB885661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC928552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC943070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326799   ⟹   ENSP00000318480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,110,454 - 27,154,359 (-)Ensembl
RefSeq Acc Id: ENST00000375972   ⟹   ENSP00000365139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,111,734 - 27,154,356 (-)Ensembl
RefSeq Acc Id: ENST00000376016   ⟹   ENSP00000365184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,110,111 - 27,154,384 (-)Ensembl
RefSeq Acc Id: ENST00000396296   ⟹   ENSP00000379590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,134,044 - 27,154,371 (-)Ensembl
RefSeq Acc Id: ENST00000427324   ⟹   ENSP00000398713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,131,859 - 27,154,226 (-)Ensembl
RefSeq Acc Id: ENST00000463270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,123,547 - 27,136,337 (-)Ensembl
RefSeq Acc Id: ENST00000477432   ⟹   ENSP00000473302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,145,419 - 27,155,266 (-)Ensembl
RefSeq Acc Id: ENST00000491542   ⟹   ENSP00000473557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,123,547 - 27,154,392 (-)Ensembl
RefSeq Acc Id: ENST00000613434   ⟹   ENSP00000481724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,110,112 - 27,154,420 (-)Ensembl
RefSeq Acc Id: NM_001253866   ⟹   NP_001240795
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,110,111 - 27,154,384 (-)NCBI
GRCh371027,399,040 - 27,443,349 (-)NCBI
HuRef1027,067,668 - 27,112,050 (-)NCBI
CHM1_11027,398,978 - 27,443,293 (-)NCBI
T2T-CHM13v2.01027,140,165 - 27,184,407 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014263   ⟹   NP_055078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,110,111 - 27,154,384 (-)NCBI
GRCh371027,399,040 - 27,443,349 (-)NCBI
Build 361027,439,389 - 27,483,327 (-)NCBI Archive
Celera1027,115,834 - 27,159,778 (-)RGD
HuRef1027,067,668 - 27,112,050 (-)NCBI
CHM1_11027,398,978 - 27,443,293 (-)NCBI
T2T-CHM13v2.01027,140,165 - 27,184,407 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139312   ⟹   NP_647473
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,110,111 - 27,154,384 (-)NCBI
GRCh371027,399,040 - 27,443,349 (-)NCBI
Build 361027,439,389 - 27,483,327 (-)NCBI Archive
Celera1027,115,834 - 27,159,778 (-)RGD
HuRef1027,067,668 - 27,112,050 (-)NCBI
CHM1_11027,398,978 - 27,443,293 (-)NCBI
T2T-CHM13v2.01027,140,165 - 27,184,407 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519300   ⟹   XP_011517602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,110,111 - 27,154,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054364629   ⟹   XP_054220604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,140,165 - 27,184,407 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001240795 (Get FASTA)   NCBI Sequence Viewer  
  NP_055078 (Get FASTA)   NCBI Sequence Viewer  
  NP_647473 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517602 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220604 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB70570 (Get FASTA)   NCBI Sequence Viewer  
  AAD20962 (Get FASTA)   NCBI Sequence Viewer  
  AAH07795 (Get FASTA)   NCBI Sequence Viewer  
  AAH19602 (Get FASTA)   NCBI Sequence Viewer  
  AAH23507 (Get FASTA)   NCBI Sequence Viewer  
  AAH24032 (Get FASTA)   NCBI Sequence Viewer  
  AAK57555 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88848 (Get FASTA)   NCBI Sequence Viewer  
  BAF83981 (Get FASTA)   NCBI Sequence Viewer  
  BAG60283 (Get FASTA)   NCBI Sequence Viewer  
  CAB51858 (Get FASTA)   NCBI Sequence Viewer  
  CAB99462 (Get FASTA)   NCBI Sequence Viewer  
  CBF59687 (Get FASTA)   NCBI Sequence Viewer  
  CBF67033 (Get FASTA)   NCBI Sequence Viewer  
  CBU84931 (Get FASTA)   NCBI Sequence Viewer  
  CBU91906 (Get FASTA)   NCBI Sequence Viewer  
  EAW86068 (Get FASTA)   NCBI Sequence Viewer  
  EAW86069 (Get FASTA)   NCBI Sequence Viewer  
  EAW86070 (Get FASTA)   NCBI Sequence Viewer  
  EAW86071 (Get FASTA)   NCBI Sequence Viewer  
  EAW86072 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318480
  ENSP00000318480.3
  ENSP00000365184
  ENSP00000365184.3
  ENSP00000379590.3
  ENSP00000398713.1
  ENSP00000473302.1
  ENSP00000473557.1
  ENSP00000481724
  ENSP00000481724.1
GenBank Protein Q96TA2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055078   ⟸   NM_014263
- Peptide Label: isoform 3
- UniProtKB: A8K5H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_647473   ⟸   NM_139312
- Peptide Label: isoform 1
- UniProtKB: Q9H1Q0 (UniProtKB/Swiss-Prot),   Q5T8D9 (UniProtKB/Swiss-Prot),   D3DRV9 (UniProtKB/Swiss-Prot),   D3DRV8 (UniProtKB/Swiss-Prot),   B4DNM1 (UniProtKB/Swiss-Prot),   Q9UMR9 (UniProtKB/Swiss-Prot),   Q96TA2 (UniProtKB/Swiss-Prot),   Q96I63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001240795   ⟸   NM_001253866
- Peptide Label: isoform 4
- UniProtKB: A8K5H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517602   ⟸   XM_011519300
- Peptide Label: isoform X1
- UniProtKB: Q96I63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000473302   ⟸   ENST00000477432
RefSeq Acc Id: ENSP00000398713   ⟸   ENST00000427324
RefSeq Acc Id: ENSP00000473557   ⟸   ENST00000491542
RefSeq Acc Id: ENSP00000365139   ⟸   ENST00000375972
RefSeq Acc Id: ENSP00000365184   ⟸   ENST00000376016
RefSeq Acc Id: ENSP00000481724   ⟸   ENST00000613434
RefSeq Acc Id: ENSP00000318480   ⟸   ENST00000326799
RefSeq Acc Id: ENSP00000379590   ⟸   ENST00000396296
RefSeq Acc Id: XP_054220604   ⟸   XM_054364629
- Peptide Label: isoform X1
Protein Domains
AAA+ ATPase   ATPase AAA-type core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96TA2-F1-model_v2 AlphaFold Q96TA2 1-773 view protein structure

Promoters
RGD ID:7217241
Promoter ID:EPDNEW_H14366
Type:initiation region
Name:YME1L1_1
Description:YME1 like 1 ATPase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14368  EPDNEW_H14369  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,384 - 27,154,444EPDNEW
RGD ID:7217245
Promoter ID:EPDNEW_H14368
Type:initiation region
Name:YME1L1_2
Description:YME1 like 1 ATPase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14366  EPDNEW_H14369  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,169 - 27,155,229EPDNEW
RGD ID:7217247
Promoter ID:EPDNEW_H14369
Type:initiation region
Name:YME1L1_3
Description:YME1 like 1 ATPase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14366  EPDNEW_H14368  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,342 - 27,155,402EPDNEW
RGD ID:6787894
Promoter ID:HG_KWN:8945
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:ENST00000375972,   ENST00000396296,   NM_014263,   NM_139312,   OTTHUMT00000047302,   OTTHUMT00000047303,   OTTHUMT00000047304,   OTTHUMT00000047308,   OTTHUMT00000047309,   UC009XKV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361027,483,171 - 27,484,932 (-)MPROMDB
RGD ID:6852646
Promoter ID:EP74135
Type:initiation region
Name:HS_YME1L1
Description:YME1-like 1 (S. cerevisiae).
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 361027,483,319 - 27,483,379EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12843 AgrOrtholog
COSMIC YME1L1 COSMIC
Ensembl Genes ENSG00000136758 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000326799 ENTREZGENE
  ENST00000326799.7 UniProtKB/Swiss-Prot
  ENST00000376016 ENTREZGENE
  ENST00000376016.8 UniProtKB/Swiss-Prot
  ENST00000396296.7 UniProtKB/TrEMBL
  ENST00000427324.5 UniProtKB/TrEMBL
  ENST00000477432.1 UniProtKB/TrEMBL
  ENST00000491542.6 UniProtKB/TrEMBL
  ENST00000613434 ENTREZGENE
  ENST00000613434.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136758 GTEx
HGNC ID HGNC:12843 ENTREZGENE
Human Proteome Map YME1L1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FtsH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M41-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10730 UniProtKB/Swiss-Prot
NCBI Gene 10730 ENTREZGENE
OMIM 607472 OMIM
PANTHER ATP-DEPENDENT ZINC METALLOPROTEASE YME1L1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  METALLOPROTEASE M41 FTSH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37434 PharmGKB
PROSITE AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF140990 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5H7 ENTREZGENE, UniProtKB/TrEMBL
  B4DNM1 ENTREZGENE
  D3DRV8 ENTREZGENE
  D3DRV9 ENTREZGENE
  Q5T8D1_HUMAN UniProtKB/TrEMBL
  Q5T8D2_HUMAN UniProtKB/TrEMBL
  Q5T8D9 ENTREZGENE
  Q6PJ89_HUMAN UniProtKB/TrEMBL
  Q96I63 ENTREZGENE, UniProtKB/TrEMBL
  Q96TA2 ENTREZGENE
  Q9H1Q0 ENTREZGENE
  Q9UMR9 ENTREZGENE
  R4GNA5_HUMAN UniProtKB/TrEMBL
  YMEL1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DNM1 UniProtKB/Swiss-Prot
  D3DRV8 UniProtKB/Swiss-Prot
  D3DRV9 UniProtKB/Swiss-Prot
  Q5T8D9 UniProtKB/Swiss-Prot
  Q9H1Q0 UniProtKB/Swiss-Prot
  Q9UMR9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 YME1L1  YME1 like 1 ATPase  YME1L1  YME1-like 1 ATPase  Symbol and/or name change 5135510 APPROVED
2013-06-18 YME1L1  YME1-like 1 ATPase  YME1L1  YME1-like 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED