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
HGNC Page HGNC:1299
Description: Enables RNA endonuclease activity. Predicted to be involved in rRNA processing. Located in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C21orf57; endoribonuclease YbeY; FLJ46907; putative metalloprotease C21orf57; putative ribonuclease; rRNA maturation factor homolog; ybeY metallopeptidase (putative)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,286,342 - 46,313,225 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,286,342 - 46,297,751 (+)EnsemblGRCh38hg38GRCh38
GRCh372147,706,256 - 47,717,665 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,530,695 - 46,542,093 (+)NCBINCBI36Build 36hg18NCBI36
Build 342146,530,694 - 46,542,092NCBI
Celera2132,818,701 - 32,831,436 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2133,089,429 - 33,101,028 (+)NCBIHuRef
CHM1_12147,267,213 - 47,278,409 (+)NCBICHM1_1
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrion  (HTP)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10830953   PMID:11707072   PMID:12477932   PMID:16341674   PMID:18624398   PMID:20877624   PMID:21873635   PMID:22042635   PMID:24797263   PMID:24981860   PMID:26186194   PMID:27499296  
PMID:28153719   PMID:28514442   PMID:29676528   PMID:29845934   PMID:31753913   PMID:32182356   PMID:32628020   PMID:32694731   PMID:33001583   PMID:33929506   PMID:33961781   PMID:34037799  
PMID:34800366   PMID:35337019   PMID:37314216  


Genomics

Comparative Map Data
YBEY
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,286,342 - 46,313,225 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,286,342 - 46,297,751 (+)EnsemblGRCh38hg38GRCh38
GRCh372147,706,256 - 47,717,665 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,530,695 - 46,542,093 (+)NCBINCBI36Build 36hg18NCBI36
Build 342146,530,694 - 46,542,092NCBI
Celera2132,818,701 - 32,831,436 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2133,089,429 - 33,101,028 (+)NCBIHuRef
CHM1_12147,267,213 - 47,278,409 (+)NCBICHM1_1
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBIT2T-CHM13v2.0
Ybey
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,295,401 - 76,304,948 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1076,295,401 - 76,304,948 (-)EnsemblGRCm39 Ensembl
GRCm381076,457,252 - 76,469,114 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,459,567 - 76,469,114 (-)EnsemblGRCm38mm10GRCm38
MGSCv371075,922,312 - 75,931,859 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361075,903,285 - 75,912,830 (-)NCBIMGSCv36mm8
Celera1077,503,956 - 77,513,503 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.85NCBI
Ybey
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82012,164,678 - 12,175,150 (+)NCBIGRCr8
mRatBN7.22012,165,192 - 12,174,713 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2012,165,237 - 12,174,713 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2012,860,741 - 12,870,241 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02012,221,664 - 12,231,164 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02012,693,443 - 12,702,943 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v22242,384,930 - 42,395,508 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12137,257,967 - 37,268,543 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02132,628,599 - 32,638,914 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12145,879,517 - 45,888,717 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,879,824 - 45,888,717 (+)Ensemblpanpan1.1panPan2
YBEY
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13139,559,933 - 39,565,775 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3139,561,849 - 39,565,074 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3138,787,728 - 38,793,011 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03139,201,091 - 39,206,441 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13139,062,760 - 39,068,049 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03139,023,021 - 39,028,763 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03139,541,465 - 39,546,868 (+)NCBIUU_Cfam_GSD_1.0
Ybey
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497138,857,101 - 38,873,809 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936778266,151 - 272,955 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936778265,855 - 273,053 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
YBEY
(Sus scrofa - pig)		 No map positions available.
YBEY
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,905,119 - 89,910,307 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,905,127 - 89,909,324 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605418,291,574 - 18,300,470 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ybey
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474531,376,747 - 31,382,011 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474531,376,060 - 31,396,319 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in YBEY
14 total Variants

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_058180.5(C21orf58):c.876CCA[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 provided [RCV004714023]|not specified [RCV000454571] Chr21:46287136 [GRCh38]
Chr21:47707050 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.46287131_46287135dup 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 provided [RCV001672775]|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 Autism [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 21q22.3(chr21:47500415-48097372)x1 copy number loss not provided [RCV002472844] Chr21:47500415..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
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3 copy number gain not provided [RCV001259417] Chr21:47279953..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3 copy number gain not provided [RCV001834168] Chr21:46922436..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47515748-47797894)x3 copy number gain not provided [RCV001829138] Chr21:47515748..47797894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_46306283)_(47865240_?)del deletion not provided [RCV001943317] Chr21:46306283..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47699887)_(47787074_?)del deletion not provided [RCV001950992] Chr21:47699887..47787074 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47690295)_(47856081_?)dup duplication not provided [RCV001920646] Chr21:47690295..47856081 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1 copy number loss not provided [RCV002276432] Chr21:47533920..48084286 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47563980-48097372)x3 copy number gain not provided [RCV002475657] Chr21:47563980..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_058180.5(C21orf58):c.911C>T (p.Pro304Leu) single nucleotide variant not specified [RCV004084577] Chr21:46302057 [GRCh38]
Chr21:47721971 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3 copy number gain not provided [RCV002475631] Chr21:46882064..47963149 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.464G>A (p.Arg155Gln) single nucleotide variant not specified [RCV004081903] Chr21:46297594 [GRCh38]
Chr21:47717508 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.263T>G (p.Leu88Trp) single nucleotide variant not specified [RCV004118693] Chr21:46291386 [GRCh38]
Chr21:47711300 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_058180.5(C21orf58):c.853A>G (p.Arg285Gly) single nucleotide variant not specified [RCV004227943] Chr21:46302115 [GRCh38]
Chr21:47722029 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.414C>G (p.Phe138Leu) single nucleotide variant not provided [RCV004696281]|not specified [RCV004234382] Chr21:46297544 [GRCh38]
Chr21:47717458 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.326A>G (p.Asn109Ser) single nucleotide variant not specified [RCV004200579] Chr21:46291449 [GRCh38]
Chr21:47711363 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.331G>C (p.Val111Leu) single nucleotide variant not specified [RCV004226294] Chr21:46291454 [GRCh38]
Chr21:47711368 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.305G>A (p.Cys102Tyr) single nucleotide variant not specified [RCV004194789] Chr21:46291428 [GRCh38]
Chr21:47711342 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.169A>G (p.Arg57Gly) single nucleotide variant not specified [RCV004101169] Chr21:46287082 [GRCh38]
Chr21:47706996 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.427G>A (p.Ala143Thr) single nucleotide variant not specified [RCV004259169] Chr21:46297557 [GRCh38]
Chr21:47717471 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.9:g.46286300C>G single nucleotide variant not provided [RCV003431602] Chr21:46286300 [GRCh38]
Chr21:47706214 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_001314025.2(YBEY):c.10G>A (p.Val4Met) single nucleotide variant not specified [RCV004485802] Chr21:46286923 [GRCh38]
Chr21:47706837 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.350C>T (p.Thr117Ile) single nucleotide variant not specified [RCV004485803] Chr21:46296172 [GRCh38]
Chr21:47716086 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1 copy number loss not provided [RCV004442739] Chr21:45726806..48093361 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_45647421)_(47865240_?)dup duplication not provided [RCV004579369] Chr21:45647421..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44296792)_(47865240_?)del deletion not provided [RCV004579375] Chr21:44296792..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001314025.2(YBEY):c.245T>G (p.Phe82Cys) single nucleotide variant not specified [RCV004685905] Chr21:46291368 [GRCh38]
Chr21:47711282 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3 copy number gain not provided [RCV004819321] Chr21:34586759..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44822667-48097372)x3 copy number gain not provided [RCV004819659] Chr21:44822667..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.182C>T (p.Thr61Ile) single nucleotide variant not specified [RCV004882488] Chr21:46287095 [GRCh38]
Chr21:47707009 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.218A>T (p.Lys73Ile) single nucleotide variant not specified [RCV004882487] Chr21:46291341 [GRCh38]
Chr21:47711255 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.452G>T (p.Arg151Leu) single nucleotide variant not specified [RCV004882486] Chr21:46297582 [GRCh38]
Chr21:47717496 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001314025.2(YBEY):c.427G>T (p.Ala143Ser) single nucleotide variant not specified [RCV004892852] Chr21:46297557 [GRCh38]
Chr21:47717471 [GRCh37]
Chr21:21q22.3		 uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597093933GWAS1190007_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS1190007 (human)0.0000033-hydroxy-1-methylpropylmercapturic acid measurement214629888246298883Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 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
  XM_047440897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324667 (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
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000329319   ⟹   ENSP00000329614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,384 - 46,297,751 (+)Ensembl
Ensembl Acc Id: ENST00000339195   ⟹   ENSP00000340675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,384 - 46,297,751 (+)Ensembl
Ensembl Acc Id: ENST00000397691   ⟹   ENSP00000380805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,645 - 46,297,751 (+)Ensembl
Ensembl Acc Id: ENST00000397692   ⟹   ENSP00000380806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,384 - 46,297,751 (+)Ensembl
Ensembl Acc Id: ENST00000397694   ⟹   ENSP00000380808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,384 - 46,297,723 (+)Ensembl
Ensembl Acc Id: ENST00000397701   ⟹   ENSP00000380813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,342 - 46,297,751 (+)Ensembl
Ensembl Acc Id: ENST00000468924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,286,355 - 46,291,930 (+)Ensembl
Ensembl Acc Id: ENST00000492864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.02144,668,939 - 44,675,584 (+)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
T2T-CHM13v2.02144,668,939 - 44,683,111 (+)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
T2T-CHM13v2.02144,668,939 - 44,683,111 (+)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
T2T-CHM13v2.02144,668,939 - 44,683,111 (+)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
T2T-CHM13v2.02144,668,939 - 44,683,111 (+)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
T2T-CHM13v2.02144,668,939 - 44,675,584 (+)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
T2T-CHM13v2.02144,668,939 - 44,683,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261156   ⟹   XP_005261213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
GRCh372147,706,250 - 47,733,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529629   ⟹   XP_011527931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,299,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529630   ⟹   XP_011527932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,299,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529631   ⟹   XP_011527933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,300,071 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529633   ⟹   XP_011527935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,313,225 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529634   ⟹   XP_011527936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,299,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529635   ⟹   XP_011527937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,299,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028394   ⟹   XP_016883883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,313,225 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440897   ⟹   XP_047296853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,313,225 (+)NCBI
RefSeq Acc Id: XM_047440898   ⟹   XP_047296854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,313,225 (+)NCBI
RefSeq Acc Id: XM_047440899   ⟹   XP_047296855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,299,924 (+)NCBI
RefSeq Acc Id: XM_047440900   ⟹   XP_047296856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,299,925 (+)NCBI
RefSeq Acc Id: XM_047440901   ⟹   XP_047296857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,313,225 (+)NCBI
RefSeq Acc Id: XM_047440902   ⟹   XP_047296858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
RefSeq Acc Id: XM_047440903   ⟹   XP_047296859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,342 - 46,297,751 (+)NCBI
RefSeq Acc Id: XM_054324655   ⟹   XP_054180630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,685,196 (+)NCBI
RefSeq Acc Id: XM_054324656   ⟹   XP_054180631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,669,254 - 44,685,196 (+)NCBI
RefSeq Acc Id: XM_054324657   ⟹   XP_054180632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,685,450 (+)NCBI
RefSeq Acc Id: XM_054324658   ⟹   XP_054180633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBI
RefSeq Acc Id: XM_054324659   ⟹   XP_054180634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBI
RefSeq Acc Id: XM_054324660   ⟹   XP_054180635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,685,299 (+)NCBI
RefSeq Acc Id: XM_054324661   ⟹   XP_054180636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,669,254 - 44,685,304 (+)NCBI
RefSeq Acc Id: XM_054324662   ⟹   XP_054180637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBI
RefSeq Acc Id: XM_054324663   ⟹   XP_054180638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBI
RefSeq Acc Id: XM_054324664   ⟹   XP_054180639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,955 - 44,683,111 (+)NCBI
RefSeq Acc Id: XM_054324665   ⟹   XP_054180640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,699,780 (+)NCBI
RefSeq Acc Id: XM_054324666   ⟹   XP_054180641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,668,939 - 44,683,111 (+)NCBI
RefSeq Acc Id: XM_054324667   ⟹   XP_054180642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02144,669,254 - 44,683,111 (+)NCBI
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_047296853 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296854 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296855 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296856 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296857 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296858 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296859 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180630 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180631 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180632 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180633 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180634 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180635 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180636 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180642 (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  
Ensembl Protein ENSP00000329614
  ENSP00000329614.3
  ENSP00000340675
  ENSP00000340675.6
  ENSP00000380805
  ENSP00000380805.1
  ENSP00000380806
  ENSP00000380806.1
  ENSP00000380808
  ENSP00000380808.1
  ENSP00000380813
  ENSP00000380813.4
GenBank Protein P58557 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_478061   ⟸   NM_058181
- Peptide Label: isoform 1
- UniProtKB: B7WPF7 (UniProtKB/Swiss-Prot),   B7WPA9 (UniProtKB/Swiss-Prot),   D3DSN2 (UniProtKB/Swiss-Prot),   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 X8
- 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 X5
- 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: B7WPF7 (UniProtKB/Swiss-Prot),   B7WPA9 (UniProtKB/Swiss-Prot),   D3DSN2 (UniProtKB/Swiss-Prot),   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: Q8TBC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883883   ⟸   XM_017028394
- Peptide Label: isoform X7
- Sequence:
Ensembl Acc Id: ENSP00000340675   ⟸   ENST00000339195
Ensembl Acc Id: ENSP00000329614   ⟸   ENST00000329319
Ensembl Acc Id: ENSP00000380813   ⟸   ENST00000397701
Ensembl Acc Id: ENSP00000380808   ⟸   ENST00000397694
Ensembl Acc Id: ENSP00000380806   ⟸   ENST00000397692
Ensembl Acc Id: ENSP00000380805   ⟸   ENST00000397691
RefSeq Acc Id: XP_047296854   ⟸   XM_047440898
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047296857   ⟸   XM_047440901
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047296853   ⟸   XM_047440897
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047296856   ⟸   XM_047440900
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047296855   ⟸   XM_047440899
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047296858   ⟸   XM_047440902
- Peptide Label: isoform X6
- UniProtKB: P58557 (UniProtKB/Swiss-Prot),   B7WPF7 (UniProtKB/Swiss-Prot),   B7WPA9 (UniProtKB/Swiss-Prot),   D3DSN2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047296859   ⟸   XM_047440903
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054180633   ⟸   XM_054324658
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054180637   ⟸   XM_054324662
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054180634   ⟸   XM_054324659
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054180638   ⟸   XM_054324663
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054180640   ⟸   XM_054324665
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054180632   ⟸   XM_054324657
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180635   ⟸   XM_054324660
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054180630   ⟸   XM_054324655
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054180641   ⟸   XM_054324666
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054180639   ⟸   XM_054324664
- Peptide Label: isoform X6
- UniProtKB: P58557 (UniProtKB/Swiss-Prot),   B7WPF7 (UniProtKB/Swiss-Prot),   B7WPA9 (UniProtKB/Swiss-Prot),   D3DSN2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054180636   ⟸   XM_054324661
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054180631   ⟸   XM_054324656
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054180642   ⟸   XM_054324667
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58557-F1-model_v2 AlphaFold P58557 1-167 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1299 AgrOrtholog
COSMIC YBEY COSMIC
Ensembl Genes ENSG00000182362 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329319 ENTREZGENE
  ENST00000329319.7 UniProtKB/Swiss-Prot
  ENST00000339195 ENTREZGENE
  ENST00000339195.10 UniProtKB/Swiss-Prot
  ENST00000397691 ENTREZGENE
  ENST00000397691.1 UniProtKB/Swiss-Prot
  ENST00000397692 ENTREZGENE
  ENST00000397692.5 UniProtKB/Swiss-Prot
  ENST00000397694 ENTREZGENE
  ENST00000397694.5 UniProtKB/Swiss-Prot
  ENST00000397701 ENTREZGENE
  ENST00000397701.9 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
PANTHER ENDORIBONUCLEASE YBEY, CHLOROPLASTIC UniProtKB/Swiss-Prot
  ENDORIBONUCLEASE YBEY, CHLOROPLASTIC UniProtKB/Swiss-Prot
Pfam UPF0054 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25852 PharmGKB
PROSITE UPF0054 UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7WPA9 ENTREZGENE
  B7WPF7 ENTREZGENE
  D3DSN2 ENTREZGENE
  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