YBEY (ybeY metalloendoribonuclease) - Rat Genome Database
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Gene: YBEY (ybeY metalloendoribonuclease) Homo sapiens
Analyze
Symbol: YBEY
Name: ybeY metalloendoribonuclease
RGD ID: 1318661
Description: Exhibits endoribonuclease activity. Predicted to be involved in RNA phosphodiester bond hydrolysis, endonucleolytic; proteolysis; and rRNA processing. Localizes to nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C21orf57; endoribonuclease YbeY; FLJ46907; putative metalloprotease C21orf57; putative ribonuclease; rRNA maturation factor homolog; ybeY metallopeptidase (putative)
Orthologs:
Mus musculus (house mouse) : Ybey (ybeY metallopeptidase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ybey (ybeY metalloendoribonuclease)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ybey (ybeY metalloendoribonuclease)
Pan paniscus (bonobo/pygmy chimpanzee) : YBEY (ybeY metalloendoribonuclease)
Canis lupus familiaris (dog) : YBEY (ybeY metalloendoribonuclease)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ybey (ybeY metalloendoribonuclease)
Sus scrofa (pig) : YBEY (ybeY metalloendoribonuclease)
Chlorocebus sabaeus (African green monkey) : YBEY (ybeY metalloendoribonuclease)
Heterocephalus glaber (naked mole-rat) : Ybey (ybeY metalloendoribonuclease)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,286,342 - 46,297,751 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,286,056 - 46,314,188 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,706,250 - 47,733,020 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,530,695 - 46,542,093 (+)NCBINCBI36hg18NCBI36
Build 342146,530,694 - 46,542,092NCBI
Celera2132,818,701 - 32,831,436 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,089,429 - 33,101,028 (+)NCBIHuRef
CHM1_12147,267,190 - 47,278,409 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
nucleus  (IDA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10830953   PMID:11707072   PMID:12477932   PMID:16341674   PMID:18624398   PMID:20877624   PMID:21873635   PMID:22042635   PMID:24797263   PMID:26186194   PMID:27499296   PMID:28153719  
PMID:28514442   PMID:29676528   PMID:29845934  


Genomics

Comparative Map Data
YBEY
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,286,342 - 46,297,751 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,286,056 - 46,314,188 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,706,250 - 47,733,020 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,530,695 - 46,542,093 (+)NCBINCBI36hg18NCBI36
Build 342146,530,694 - 46,542,092NCBI
Celera2132,818,701 - 32,831,436 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,089,429 - 33,101,028 (+)NCBIHuRef
CHM1_12147,267,190 - 47,278,409 (+)NCBICHM1_1
Ybey
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,295,401 - 76,304,948 (-)NCBI
GRCm381076,457,252 - 76,469,114 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,459,567 - 76,469,114 (-)EnsemblGRCm38mm10GRCm38
MGSCv371075,922,312 - 75,931,859 (-)NCBIGRCm37mm9NCBIm37
MGSCv361075,903,285 - 75,912,830 (-)NCBImm8
Celera1077,503,956 - 77,513,503 (-)NCBICelera
Cytogenetic Map10C1NCBI
Ybey
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02012,917,111 - 12,926,587 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,917,111 - 12,926,587 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,075,086 - 15,084,562 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,580,868 - 12,590,344 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12012,581,121 - 12,587,676 (+)NCBI
Celera2013,663,079 - 13,672,555 (+)NCBICelera
Cytogenetic Map20p12NCBI
Ybey
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,706,439 - 42,710,962 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,706,407 - 42,710,962 (+)NCBIChiLan1.0ChiLan1.0
YBEY
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,879,517 - 45,888,717 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,879,824 - 45,888,717 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02132,628,599 - 32,638,914 (+)NCBI
YBEY
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,561,849 - 39,565,074 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,559,933 - 39,565,775 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ybey
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778265,855 - 273,053 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
YBEY
(Sus scrofa - pig)
No map positions available.
YBEY
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl289,905,127 - 89,909,324 (+)Ensembl
ChlSab1.1289,905,119 - 89,910,307 (+)NCBI
Ybey
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
SHGC-87728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,705,498 - 47,705,596UniSTSGRCh37
Build 362146,529,926 - 46,530,024RGDNCBI36
Celera2132,817,932 - 32,818,030RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,088,659 - 33,088,758UniSTS
TNG Radiation Hybrid Map2119964.0UniSTS
GeneMap99-GB4 RH Map21256.28UniSTS
NCBI RH Map21407.7UniSTS
SHGC-52108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,705,406 - 47,705,627UniSTSGRCh37
Build 362146,529,834 - 46,530,055RGDNCBI36
Celera2132,817,840 - 32,818,061RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,088,567 - 33,088,789UniSTS
TNG Radiation Hybrid Map2119945.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2171
Count of miRNA genes:548
Interacting mature miRNAs:617
Transcripts:ENST00000329319, ENST00000339195, ENST00000397691, ENST00000397692, ENST00000397694, ENST00000397701, ENST00000468924, ENST00000492864
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.


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 1110 956 1147 216 1077 157 3034 498 1878 251 1258 1087 71 1 699 1701 2
Low 1329 2033 579 408 873 308 1323 1698 1856 168 202 526 103 505 1087 4 2
Below cutoff 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001006114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_058181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI262212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC122865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG473705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM796288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329319   ⟹   ENSP00000329614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,384 - 46,297,751 (+)Ensembl
RefSeq Acc Id: ENST00000339195   ⟹   ENSP00000340675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,384 - 46,297,751 (+)Ensembl
RefSeq Acc Id: ENST00000397691   ⟹   ENSP00000380805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,645 - 46,297,751 (+)Ensembl
RefSeq Acc Id: ENST00000397692   ⟹   ENSP00000380806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,384 - 46,297,751 (+)Ensembl
RefSeq Acc Id: ENST00000397694   ⟹   ENSP00000380808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,384 - 46,297,723 (+)Ensembl
RefSeq Acc Id: ENST00000397701   ⟹   ENSP00000380813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,342 - 46,297,751 (+)Ensembl
RefSeq Acc Id: ENST00000468924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,355 - 46,291,930 (+)Ensembl
RefSeq Acc Id: ENST00000492864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,286,454 - 46,292,197 (+)Ensembl
RefSeq Acc Id: NM_001006114   ⟹   NP_001006114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,292,518 (+)NCBI
GRCh372147,706,250 - 47,733,020 (+)NCBI
Build 362146,530,695 - 46,536,539 (+)NCBI Archive
Celera2132,818,701 - 32,831,436 (+)RGD
HuRef2133,089,429 - 33,101,028 (+)RGD
CHM1_12147,267,190 - 47,273,400 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314022   ⟹   NP_001300951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
CHM1_12147,267,190 - 47,278,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314023   ⟹   NP_001300952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
CHM1_12147,267,190 - 47,278,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314024   ⟹   NP_001300953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
CHM1_12147,267,190 - 47,278,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314025   ⟹   NP_001300954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
CHM1_12147,267,190 - 47,278,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314026   ⟹   NP_001300955
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,292,518 (+)NCBI
CHM1_12147,267,190 - 47,273,400 (+)NCBI
Sequence:
RefSeq Acc Id: NM_058181   ⟹   NP_478061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
GRCh372147,706,250 - 47,733,020 (+)NCBI
Build 362146,530,695 - 46,542,093 (+)NCBI Archive
Celera2132,818,701 - 32,831,436 (+)RGD
HuRef2133,089,429 - 33,101,028 (+)RGD
CHM1_12147,267,190 - 47,278,409 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261156   ⟹   XP_005261213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,056 - 46,297,724 (+)NCBI
GRCh372147,706,250 - 47,733,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529629   ⟹   XP_011527931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,360 - 46,299,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529630   ⟹   XP_011527932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,651 - 46,299,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529631   ⟹   XP_011527933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,360 - 46,300,109 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529633   ⟹   XP_011527935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,360 - 46,314,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529634   ⟹   XP_011527936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,056 - 46,299,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529635   ⟹   XP_011527937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,657 - 46,299,915 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028394   ⟹   XP_016883883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,056 - 46,314,188 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028395   ⟹   XP_016883884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,292,701 - 46,298,398 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028396   ⟹   XP_016883885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,641 - 46,294,766 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001006114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300951 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300952 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300953 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300954 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300955 (Get FASTA)   NCBI Sequence Viewer  
  NP_478061 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261213 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527931 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527932 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527933 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527935 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527936 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527937 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883883 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883884 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883885 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22828 (Get FASTA)   NCBI Sequence Viewer  
  AAI19771 (Get FASTA)   NCBI Sequence Viewer  
  AAI22866 (Get FASTA)   NCBI Sequence Viewer  
  AAI31554 (Get FASTA)   NCBI Sequence Viewer  
  AAK74138 (Get FASTA)   NCBI Sequence Viewer  
  AAK74139 (Get FASTA)   NCBI Sequence Viewer  
  AAK74140 (Get FASTA)   NCBI Sequence Viewer  
  AAK74141 (Get FASTA)   NCBI Sequence Viewer  
  BAH11937 (Get FASTA)   NCBI Sequence Viewer  
  EAX09288 (Get FASTA)   NCBI Sequence Viewer  
  EAX09289 (Get FASTA)   NCBI Sequence Viewer  
  EAX09290 (Get FASTA)   NCBI Sequence Viewer  
  EAX09291 (Get FASTA)   NCBI Sequence Viewer  
  EAX09292 (Get FASTA)   NCBI Sequence Viewer  
  EAX09293 (Get FASTA)   NCBI Sequence Viewer  
  EAX09294 (Get FASTA)   NCBI Sequence Viewer  
  EAX09295 (Get FASTA)   NCBI Sequence Viewer  
  P58557 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_478061   ⟸   NM_058181
- Peptide Label: isoform 1
- UniProtKB: P58557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001006114   ⟸   NM_001006114
- Peptide Label: isoform 2
- UniProtKB: Q8TBC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261213   ⟸   XM_005261156
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011527933   ⟸   XM_011529631
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011527931   ⟸   XM_011529629
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527935   ⟸   XM_011529633
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011527936   ⟸   XM_011529634
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011527937   ⟸   XM_011529635
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527932   ⟸   XM_011529630
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001300951   ⟸   NM_001314022
- Peptide Label: isoform 3
- UniProtKB: P58557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001300954   ⟸   NM_001314025
- Peptide Label: isoform 1
- UniProtKB: P58557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001300952   ⟸   NM_001314023
- Peptide Label: isoform 4
- UniProtKB: P58557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001300953   ⟸   NM_001314024
- Peptide Label: isoform 5
- UniProtKB: P58557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001300955   ⟸   NM_001314026
- Peptide Label: isoform 2
- UniProtKB: P58557 (UniProtKB/Swiss-Prot),   Q8TBC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883883   ⟸   XM_017028394
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016883885   ⟸   XM_017028396
- Peptide Label: isoform X8
- UniProtKB: Q8TBC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883884   ⟸   XM_017028395
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000340675   ⟸   ENST00000339195
RefSeq Acc Id: ENSP00000329614   ⟸   ENST00000329319
RefSeq Acc Id: ENSP00000380813   ⟸   ENST00000397701
RefSeq Acc Id: ENSP00000380808   ⟸   ENST00000397694
RefSeq Acc Id: ENSP00000380806   ⟸   ENST00000397692
RefSeq Acc Id: ENSP00000380805   ⟸   ENST00000397691

Promoters
RGD ID:13603090
Promoter ID:EPDNEW_H27729
Type:initiation region
Name:YBEY_1
Description:ybeY metallopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27731  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,394 - 46,286,454EPDNEW
RGD ID:13603094
Promoter ID:EPDNEW_H27731
Type:initiation region
Name:YBEY_2
Description:ybeY metallopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27729  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,648 - 46,286,708EPDNEW
RGD ID:6799506
Promoter ID:HG_KWN:41306
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397691,   ENST00000397701,   ENST00000397708,   NM_001006114,   NM_003906,   NM_058181,   OTTHUMT00000207260,   OTTHUMT00000207261,   UC002ZIU.1,   UC002ZIW.1,   UC002ZIY.1,   UC010GQH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,528,141 - 46,530,702 (-)MPROMDB
RGD ID:6816322
Promoter ID:HG_SPT:39563
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:AA164947,   AA193379,   AA514468,   AA582949,   AA588622,   AA593589,   AA610039,   AA767787,   AA780178,   AA805948,   AA848086,   AI094302,   AI221456,   AI262212,   AI286111,   AI540101,   AI702440,   AI798881,   AI972540,   AW078682,   BF510872,   BI520758,   BM021142,   BQ771855,   BU739063,   CA430078,   CK904261,   W67783,   W69721,   W84414
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,541,731 - 46,542,231 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 copy number loss See cases [RCV000050919] Chr21:46214279..46670405 [GRCh38]
Chr21:47634193..48090317 [GRCh37]
Chr21:46458621..46914745 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47704528-47721403)x3 copy number gain See cases [RCV000448253] Chr21:47704528..47721403 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_058180.4(C21orf58):c.876_878CCA[8] (p.His299dup) microsatellite not specified [RCV000454570] Chr21:46302071..46302072 [GRCh38]
Chr21:47721985..47721986 [GRCh37]
Chr21:21q22.3
benign
NM_001314025.2(YBEY):c.210+13T>A single nucleotide variant not specified [RCV000454571] Chr21:46287136 [GRCh38]
Chr21:47707050 [GRCh37]
Chr21:21q22.3
benign
NM_001314025.2(YBEY):c.210+8_210+12dup duplication not specified [RCV000454904] Chr21:46287125..46287126 [GRCh38]
Chr21:47707039..47707040 [GRCh37]
Chr21:21q22.3
benign
NM_003906.5(MCM3AP):c.305C>T (p.Ser102Leu) single nucleotide variant not specified [RCV000455832] Chr21:46284982 [GRCh38]
Chr21:47704896 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47678065-47886671)x1 copy number loss not provided [RCV000684138] Chr21:47678065..47886671 [GRCh37]
Chr21:21q22.3
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47695080-47851638)x3 copy number gain not provided [RCV000741670] Chr21:47695080..47851638 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47704624-47722489)x3 copy number gain not provided [RCV000741671] Chr21:47704624..47722489 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47704624-47735390)x3 copy number gain not provided [RCV000741672] Chr21:47704624..47735390 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:47681922-47784627)x3 copy number gain not provided [RCV000848723] Chr21:47681922..47784627 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:47681922-48097372)x1 copy number loss not provided [RCV001007151] Chr21:47681922..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1299 AgrOrtholog
COSMIC YBEY COSMIC
Ensembl Genes ENSG00000182362 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000329614 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000340675 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380805 UniProtKB/Swiss-Prot
  ENSP00000380806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380813 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329319 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000339195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397691 UniProtKB/Swiss-Prot
  ENST00000397692 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397694 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397701 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.390.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182362 GTEx
HGNC ID HGNC:1299 ENTREZGENE
Human Proteome Map YBEY Human Proteome Map
InterPro MetalPrtase_cat_dom_sf_prd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YbeY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YbeY_CS UniProtKB/Swiss-Prot
KEGG Report hsa:54059 UniProtKB/Swiss-Prot
NCBI Gene 54059 ENTREZGENE
OMIM 617461 OMIM
Pfam UPF0054 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25852 PharmGKB
PROSITE UPF0054 UniProtKB/Swiss-Prot
TIGRFAMs TIGR00043 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.474066 ENTREZGENE
UniProt P58557 ENTREZGENE
  Q8TBC8 ENTREZGENE, UniProtKB/TrEMBL
  YBEY_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7WPA9 UniProtKB/Swiss-Prot
  B7WPF7 UniProtKB/Swiss-Prot
  D3DSN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-04-24 YBEY  ybeY metalloendoribonuclease    ybeY metallopeptidase (putative)  Symbol and/or name change 5135510 APPROVED
2011-07-27 YBEY  ybeY metallopeptidase (putative)  C21orf57  chromosome 21 open reading frame 57  Symbol and/or name change 5135510 APPROVED

 



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