PSMB1 (proteasome 20S subunit beta 1) - Rat Genome Database

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Gene: PSMB1 (proteasome 20S subunit beta 1) Homo sapiens
Analyze
Symbol: PSMB1
Name: proteasome 20S subunit beta 1
RGD ID: 733154
HGNC Page HGNC:9537
Description: Predicted to be involved in proteolysis involved in protein catabolic process. Located in nucleoplasm. Part of proteasome core complex. Is active in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ25321; HC5; KIAA1838; macropain subunit C5; multicatalytic endopeptidase complex subunit C5; NEDMHAL; PMSB1; proteasome (prosome, macropain) subunit, beta type 1; proteasome (prosome, macropain) subunit, beta type, 1; proteasome beta 1 subunit; proteasome component C5; proteasome gamma chain; proteasome subunit beta 1; proteasome subunit beta type-1; proteasome subunit beta6; proteasome subunit HC5; PSC5; testicular secretory protein Li 45
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC092580.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386170,535,120 - 170,553,307 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6170,535,120 - 170,553,307 (-)EnsemblGRCh38hg38GRCh38
GRCh376170,844,208 - 170,862,395 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366170,686,134 - 170,704,312 (-)NCBINCBI36Build 36hg18NCBI36
Build 346170,761,840 - 170,780,019NCBI
Celera6171,639,464 - 171,657,679 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6168,349,261 - 168,367,473 (-)NCBIHuRef
CHM1_16171,105,483 - 171,123,692 (-)NCBICHM1_1
T2T-CHM13v2.06171,908,679 - 171,926,858 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
2-nitrofluorene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzbromarone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
clofibrate  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
hyaluronic acid  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
leflunomide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
maneb  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methylparaben  (EXP)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
phlorizin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
stattic  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
theophylline  (ISO)
thioacetamide  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2025653   PMID:2306472   PMID:7558012   PMID:7811265   PMID:7966316   PMID:8125298   PMID:8811196   PMID:9079628   PMID:9311996   PMID:10527805   PMID:10893419   PMID:11205743  
PMID:11285280   PMID:12376572   PMID:12419264   PMID:12477932   PMID:12525704   PMID:12791267   PMID:14499622   PMID:14550573   PMID:14574404   PMID:14702039   PMID:14732874   PMID:14733938  
PMID:15029244   PMID:15231747   PMID:15342556   PMID:15489334   PMID:15848047   PMID:15887188   PMID:16196087   PMID:17110338   PMID:17189198   PMID:17314511   PMID:17323924   PMID:17353931  
PMID:17506986   PMID:17573772   PMID:17948026   PMID:18029348   PMID:18775730   PMID:18781797   PMID:18922472   PMID:19013454   PMID:19056867   PMID:19193609   PMID:19489727   PMID:19549367  
PMID:19596235   PMID:19738201   PMID:19815544   PMID:20458337   PMID:20558726   PMID:20723761   PMID:21135093   PMID:21139048   PMID:21565611   PMID:21630459   PMID:21726808   PMID:21853274  
PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:21976669   PMID:21980299   PMID:21987572   PMID:22053931   PMID:22119785   PMID:22505724   PMID:22623428   PMID:22645313  
PMID:22863883   PMID:22898364   PMID:22939629   PMID:23275444   PMID:23376485   PMID:23443559   PMID:23503661   PMID:23504381   PMID:23544109   PMID:23549871   PMID:23725357   PMID:23824909  
PMID:23924720   PMID:24163370   PMID:24816145   PMID:25147182   PMID:25281560   PMID:25416956   PMID:25599644   PMID:25737280   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26344197  
PMID:26485645   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26748699   PMID:26972000   PMID:27025967   PMID:27114451   PMID:27173435   PMID:27226596   PMID:27428775   PMID:27497298  
PMID:27503909   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27705803   PMID:28027390   PMID:28276505   PMID:28292943   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28581483  
PMID:28675297   PMID:28733196   PMID:28821611   PMID:29229926   PMID:29426014   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29581427   PMID:29636472   PMID:29666234   PMID:29845934  
PMID:29871923   PMID:30021884   PMID:30209976   PMID:30257870   PMID:30425250   PMID:30455355   PMID:30575818   PMID:30682859   PMID:30833792   PMID:30948266   PMID:31046837   PMID:31091453  
PMID:31324722   PMID:31343991   PMID:31452512   PMID:31478661   PMID:31515488   PMID:31586073   PMID:31594818   PMID:31740976   PMID:31792442   PMID:31901637   PMID:32129449   PMID:32203420  
PMID:32296183   PMID:32416067   PMID:32460013   PMID:32687490   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32814769   PMID:32877691   PMID:32989298   PMID:33239621   PMID:33277362  
PMID:33306668   PMID:33729478   PMID:33766124   PMID:33961781   PMID:34373451   PMID:34599178   PMID:34711951   PMID:34732716   PMID:34761751   PMID:35140242   PMID:35227662   PMID:35271311  
PMID:35384245   PMID:35446349   PMID:35530310   PMID:35701858   PMID:35777956   PMID:35831314   PMID:35831895   PMID:35944360   PMID:36114006   PMID:36168628   PMID:36180527   PMID:36215168  
PMID:36273042   PMID:36380368   PMID:36398858   PMID:36538041   PMID:36610398   PMID:36737599   PMID:36779763   PMID:37468792   PMID:37616343   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
PSMB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386170,535,120 - 170,553,307 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6170,535,120 - 170,553,307 (-)EnsemblGRCh38hg38GRCh38
GRCh376170,844,208 - 170,862,395 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366170,686,134 - 170,704,312 (-)NCBINCBI36Build 36hg18NCBI36
Build 346170,761,840 - 170,780,019NCBI
Celera6171,639,464 - 171,657,679 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6168,349,261 - 168,367,473 (-)NCBIHuRef
CHM1_16171,105,483 - 171,123,692 (-)NCBICHM1_1
T2T-CHM13v2.06171,908,679 - 171,926,858 (-)NCBIT2T-CHM13v2.0
Psmb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391715,695,983 - 15,718,538 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1715,695,283 - 15,720,013 (-)EnsemblGRCm39 Ensembl
GRCm381715,475,721 - 15,498,276 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1715,475,021 - 15,499,751 (-)EnsemblGRCm38mm10GRCm38
MGSCv371715,612,685 - 15,635,240 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361715,180,922 - 15,203,243 (-)NCBIMGSCv36mm8
Celera1716,263,619 - 16,283,553 (-)NCBICelera
Cytogenetic Map17A2NCBI
cM Map178.95NCBI
Psmb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8165,115,770 - 65,136,516 (-)NCBIGRCr8
mRatBN7.2156,442,432 - 56,463,544 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl156,420,618 - 56,463,560 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx161,293,207 - 61,311,018 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0169,956,748 - 69,974,559 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0163,203,175 - 63,220,987 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0157,470,878 - 57,491,359 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl157,470,632 - 57,489,727 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0158,399,237 - 58,419,917 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4154,369,775 - 54,388,816 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1154,372,719 - 54,391,761 (-)NCBI
Celera152,648,620 - 52,666,985 (-)NCBICelera
Cytogenetic Map1q12NCBI
Psmb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554113,286,835 - 3,304,931 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554113,285,610 - 3,304,210 (+)NCBIChiLan1.0ChiLan1.0
PSMB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25190,812,047 - 190,831,109 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16188,713,683 - 188,732,729 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06168,695,047 - 168,713,257 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16173,781,040 - 173,799,243 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6173,781,040 - 173,799,342 (-)Ensemblpanpan1.1panPan2
PSMB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11272,440,224 - 72,456,304 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1272,440,224 - 72,456,284 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1272,202,460 - 72,218,544 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01273,425,690 - 73,441,776 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1273,425,690 - 73,441,754 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11272,698,433 - 72,714,512 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01272,520,615 - 72,536,698 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01272,911,637 - 72,927,722 (-)NCBIUU_Cfam_GSD_1.0
Psmb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946151,224,293 - 151,246,522 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493709866,832 - 81,708 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493709867,298 - 80,019 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl123,676 - 40,032 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1123,827 - 40,033 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PSMB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11397,682,501 - 97,701,339 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1397,682,369 - 97,701,799 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604069,680,366 - 69,699,217 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psmb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248506,337,094 - 6,357,997 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248506,339,918 - 6,357,925 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMB1
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q27(chr6:168524169-170612001)x1 copy number loss See cases [RCV000050982] Chr6:168524169..170612001 [GRCh38]
Chr6:168924849..170921089 [GRCh37]
Chr6:168667698..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170471093-170583214)x3 copy number gain See cases [RCV000050680] Chr6:170471093..170583214 [GRCh38]
Chr6:170780181..170892302 [GRCh37]
Chr6:170622106..170734227 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:169441378-170612001)x1 copy number loss See cases [RCV000050605] Chr6:169441378..170612001 [GRCh38]
Chr6:169841473..170921089 [GRCh37]
Chr6:169583398..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169641704-170612001)x1 copy number loss See cases [RCV000051219] Chr6:169641704..170612001 [GRCh38]
Chr6:170041800..170921089 [GRCh37]
Chr6:169783725..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170538168-170612001)x3 copy number gain See cases [RCV000051114] Chr6:170538168..170612001 [GRCh38]
Chr6:170847256..170921089 [GRCh37]
Chr6:170689181..170763014 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167838308-170581020)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|See cases [RCV000052228] Chr6:167838308..170581020 [GRCh38]
Chr6:168238988..170890108 [GRCh37]
Chr6:167981837..170732033 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167924952-170602152)x1 copy number loss See cases [RCV000052229] Chr6:167924952..170602152 [GRCh38]
Chr6:168325632..170911240 [GRCh37]
Chr6:168068481..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:168180473-170583214)x1 copy number loss See cases [RCV000052230] Chr6:168180473..170583214 [GRCh38]
Chr6:168581153..170892302 [GRCh37]
Chr6:168324002..170734227 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169021176-170602152)x1 copy number loss See cases [RCV000052243] Chr6:169021176..170602152 [GRCh38]
Chr6:169421271..170911240 [GRCh37]
Chr6:169163196..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:170456961-170539641)x3 copy number gain See cases [RCV000134067] Chr6:170456961..170539641 [GRCh38]
Chr6:170766049..170848729 [GRCh37]
Chr6:170607974..170690654 [NCBI36]
Chr6:6q27		 benign
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169688809-170583214)x1 copy number loss See cases [RCV000136831] Chr6:169688809..170583214 [GRCh38]
Chr6:170088905..170892302 [GRCh37]
Chr6:169830830..170734227 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170257060-170714507)x1 copy number loss See cases [RCV000137422] Chr6:170257060..170714507 [GRCh38]
Chr6:170566148..171023595 [GRCh37]
Chr6:170408073..170865520 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:167145050-170714507)x1 copy number loss See cases [RCV000137523] Chr6:167145050..170714507 [GRCh38]
Chr6:167558538..171023595 [GRCh37]
Chr6:167478528..170865520 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:168802993-170714507)x1 copy number loss See cases [RCV000137643] Chr6:168802993..170714507 [GRCh38]
Chr6:169203088..171023595 [GRCh37]
Chr6:168945013..170865520 [NCBI36]
Chr6:6q27		 likely pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:170425647-170567808)x4 copy number gain See cases [RCV000137334] Chr6:170425647..170567808 [GRCh38]
Chr6:170734735..170876896 [GRCh37]
Chr6:170576660..170718821 [NCBI36]
Chr6:6q27		 likely benign|uncertain significance
GRCh38/hg38 6q27(chr6:170210927-170714507)x1 copy number loss See cases [RCV000137398] Chr6:170210927..170714507 [GRCh38]
Chr6:170526161..171023595 [GRCh37]
Chr6:170368086..170865520 [NCBI36]
Chr6:6q27		 likely pathogenic|uncertain significance
GRCh38/hg38 6q27(chr6:168881467-170602152)x1 copy number loss See cases [RCV000137746] Chr6:168881467..170602152 [GRCh38]
Chr6:169281562..170911240 [GRCh37]
Chr6:169023487..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170460124-170535701)x3 copy number gain See cases [RCV000138404] Chr6:170460124..170535701 [GRCh38]
Chr6:170769212..170844789 [GRCh37]
Chr6:170611137..170686714 [NCBI36]
Chr6:6q27		 likely benign
GRCh38/hg38 6q27(chr6:170014772-170714507)x1 copy number loss See cases [RCV000139129] Chr6:170014772..170714507 [GRCh38]
Chr6:170329996..171023595 [GRCh37]
Chr6:170171921..170865520 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:168581259-170610394)x1 copy number loss See cases [RCV000140451] Chr6:168581259..170610394 [GRCh38]
Chr6:168981939..170919482 [GRCh37]
Chr6:168724788..170761407 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:167963618-170597678)x1 copy number loss See cases [RCV000139526] Chr6:167963618..170597678 [GRCh38]
Chr6:168364298..170906766 [GRCh37]
Chr6:168107147..170748691 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167896913-170714507)x1 copy number loss See cases [RCV000140812] Chr6:167896913..170714507 [GRCh38]
Chr6:168297593..171023595 [GRCh37]
Chr6:168040442..170865520 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170187559-170610394)x3 copy number gain See cases [RCV000141988] Chr6:170187559..170610394 [GRCh38]
Chr6:170502783..170919482 [GRCh37]
Chr6:170344708..170761407 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:170523344-170602152)x3 copy number gain See cases [RCV000142779] Chr6:170523344..170602152 [GRCh38]
Chr6:170832432..170911240 [GRCh37]
Chr6:170674357..170753165 [NCBI36]
Chr6:6q27		 benign
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:167760366-170610394)x1 copy number loss See cases [RCV000143582] Chr6:167760366..170610394 [GRCh38]
Chr6:168161046..170919482 [GRCh37]
Chr6:167903895..170761407 [NCBI36]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q27(chr6:170713690-170890384)x3 copy number gain Premature ovarian failure [RCV000225169] Chr6:170713690..170890384 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:169131334-170919482)x3 copy number gain See cases [RCV000446893] Chr6:169131334..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:168923404-170919482)x1 copy number loss See cases [RCV000448842] Chr6:168923404..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168827897-170919482)x1 copy number loss See cases [RCV000447973] Chr6:168827897..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27		 likely pathogenic
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:167388817-170919482)x1 copy number loss not provided [RCV000682747] Chr6:167388817..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170331096-170894127)x3 copy number gain not provided [RCV000682752] Chr6:170331096..170894127 [GRCh37]
Chr6:6q27		 uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
Single allele duplication not provided [RCV000677950] Chr6:170591590..171025515 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NC_000006.12:g.170299941_170556913dup duplication Primary amenorrhea [RCV000754426] Chr6:170299941..170556913 [GRCh38]
Chr6:170609029..170866001 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:169854753-170919470)x1 copy number loss not provided [RCV000746261] Chr6:169854753..170919470 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:170714331-170847181)x3 copy number gain not provided [RCV000746276] Chr6:170714331..170847181 [GRCh37]
Chr6:6q27		 benign
GRCh37/hg19 6q27(chr6:167440417-170919482)x1 copy number loss not provided [RCV001005882] Chr6:167440417..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168311806-170881789) copy number loss not provided [RCV000767674] Chr6:168311806..170881789 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:167770398-170919482)x1 copy number loss See cases [RCV002285064] Chr6:167770398..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170331096-170919482)x1 copy number loss not provided [RCV001005886] Chr6:170331096..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:170799449-170864758)x3 copy number gain not provided [RCV000849846] Chr6:170799449..170864758 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:170136337-170919482)x1 copy number loss not provided [RCV001005885] Chr6:170136337..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170653923-170919482)x3 copy number gain not provided [RCV000845860] Chr6:170653923..170919482 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 copy number loss not provided [RCV002472604] Chr6:163181847..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:167580012-170919482)x1 copy number loss not provided [RCV001258925] Chr6:167580012..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:169830713-171022896)x1 copy number loss Intellectual developmental disorder with seizures and language delay [RCV001801212] Chr6:169830713..171022896 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:161047873-170919482) copy number loss not specified [RCV002053651] Chr6:161047873..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:170262214-170919482) copy number loss not specified [RCV002053662] Chr6:170262214..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162212864-170919482) copy number gain not specified [RCV002053652] Chr6:162212864..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:170230181-170919482) copy number loss not specified [RCV002053661] Chr6:170230181..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:167317903-170919482) copy number loss not specified [RCV002053659] Chr6:167317903..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168051206-170919482)x1 copy number loss not provided [RCV001827651] Chr6:168051206..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482) copy number loss not specified [RCV002053653] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163290087-170919482) copy number loss not specified [RCV002053655] Chr6:163290087..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:168939661-170919482)x1 copy number loss not provided [RCV001836576] Chr6:168939661..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_002793.4(PSMB1):c.307T>C (p.Tyr103His) single nucleotide variant Neurodevelopmental disorder with microcephaly, hypotonia, and absent language [RCV002284163] Chr6:170543727 [GRCh38]
Chr6:170852815 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168552894-170919482)x1 copy number loss See cases [RCV002292396] Chr6:168552894..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168643852-170919482) copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV002280750] Chr6:168643852..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170657577-170919482)x1 copy number loss See cases [RCV002292702] Chr6:170657577..170919482 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 copy number loss not provided [RCV002293168] Chr6:163836226..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_002793.4(PSMB1):c.194C>T (p.Thr65Met) single nucleotide variant Inborn genetic diseases [RCV002687435] Chr6:170549033 [GRCh38]
Chr6:170858121 [GRCh37]
Chr6:6q27		 uncertain significance
NM_002793.4(PSMB1):c.191A>G (p.His64Arg) single nucleotide variant Inborn genetic diseases [RCV002798275] Chr6:170549036 [GRCh38]
Chr6:170858124 [GRCh37]
Chr6:6q27		 uncertain significance
NM_002793.4(PSMB1):c.218A>G (p.Lys73Arg) single nucleotide variant Inborn genetic diseases [RCV002798778] Chr6:170549009 [GRCh38]
Chr6:170858097 [GRCh37]
Chr6:6q27		 uncertain significance
NM_002793.4(PSMB1):c.308A>G (p.Tyr103Cys) single nucleotide variant Inborn genetic diseases [RCV002737730] Chr6:170543726 [GRCh38]
Chr6:170852814 [GRCh37]
Chr6:6q27		 uncertain significance
NM_002793.4(PSMB1):c.127A>G (p.Ile43Val) single nucleotide variant Inborn genetic diseases [RCV002696829] Chr6:170549100 [GRCh38]
Chr6:170858188 [GRCh37]
Chr6:6q27		 uncertain significance
NM_002793.4(PSMB1):c.115A>G (p.Thr39Ala) single nucleotide variant Inborn genetic diseases [RCV002714571] Chr6:170549112 [GRCh38]
Chr6:170858200 [GRCh37]
Chr6:6q27		 uncertain significance
NM_002793.4(PSMB1):c.451A>G (p.Ser151Gly) single nucleotide variant Inborn genetic diseases [RCV002673763] Chr6:170537323 [GRCh38]
Chr6:170846411 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 copy number loss not provided [RCV003334287] Chr6:160952761..170892276 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_002793.4(PSMB1):c.341G>C (p.Gly114Ala) single nucleotide variant Inborn genetic diseases [RCV003353896] Chr6:170543693 [GRCh38]
Chr6:170852781 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:167091844-170919482)x1 copy number loss not provided [RCV003482936] Chr6:167091844..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170779743-170877175)x1 copy number loss not provided [RCV003482942] Chr6:170779743..170877175 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:170808082-170919482)x1 copy number loss not provided [RCV003482943] Chr6:170808082..170919482 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:170466312-170919482)x1 copy number loss not provided [RCV003482941] Chr6:170466312..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170158867-170919482)x1 copy number loss not specified [RCV003986633] Chr6:170158867..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 copy number loss not specified [RCV003986639] Chr6:162079329..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 copy number loss not provided [RCV003885515] Chr6:162124972..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:97
Count of miRNA genes:56
Interacting mature miRNAs:56
Transcripts:ENST00000262193, ENST00000462957
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH79599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,860,785 - 170,860,985UniSTSGRCh37
Build 366170,702,710 - 170,702,910RGDNCBI36
Celera6171,656,048 - 171,656,248RGD
Cytogenetic Map6q27UniSTS
HuRef6168,365,842 - 168,366,042UniSTS
GeneMap99-GB4 RH Map6660.03UniSTS
SHGC-82534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,852,385 - 170,852,679UniSTSGRCh37
Build 366170,694,310 - 170,694,604RGDNCBI36
Celera6171,647,643 - 171,647,937RGD
Cytogenetic Map6q27UniSTS
HuRef6168,357,440 - 168,357,734UniSTS
TNG Radiation Hybrid Map684783.0UniSTS
RH17360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,844,273 - 170,844,412UniSTSGRCh37
Build 366170,686,198 - 170,686,337RGDNCBI36
Celera6171,639,533 - 171,639,672RGD
Cytogenetic Map6q27UniSTS
HuRef6168,349,330 - 168,349,469UniSTS
GeneMap99-GB4 RH Map6649.46UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
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Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
RH93445  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q27UniSTS
GeneMap99-GB4 RH Map6649.46UniSTS


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 adipose tissue appendage entire extraembryonic component
High 1 9 1
Medium 2432 2946 1723 622 1928 464 4355 2175 3696 417 1439 1607 171 1204 2788 4
Low 38 20 18 11 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP369175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ685374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262193   ⟹   ENSP00000262193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,535,120 - 170,553,307 (-)Ensembl
RefSeq Acc Id: ENST00000462957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,535,222 - 170,550,441 (-)Ensembl
RefSeq Acc Id: NM_002793   ⟹   NP_002784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,535,120 - 170,553,307 (-)NCBI
GRCh376170,844,204 - 170,862,417 (-)ENTREZGENE
GRCh376170,844,204 - 170,862,417 (-)NCBI
Build 366170,686,134 - 170,704,312 (-)NCBI Archive
HuRef6168,349,261 - 168,367,473 (-)ENTREZGENE
CHM1_16171,105,483 - 171,123,692 (-)NCBI
T2T-CHM13v2.06171,908,679 - 171,926,858 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002784   ⟸   NM_002793
- UniProtKB: B5BU76 (UniProtKB/Swiss-Prot),   Q9BWA8 (UniProtKB/Swiss-Prot),   P20618 (UniProtKB/Swiss-Prot),   A0A140VK45 (UniProtKB/TrEMBL),   Q53FT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000262193   ⟸   ENST00000262193

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20618-F1-model_v2 AlphaFold P20618 1-241 view protein structure

Promoters
RGD ID:7209711
Promoter ID:EPDNEW_H10602
Type:initiation region
Name:PSMB1_1
Description:proteasome subunit beta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,553,299 - 170,553,359EPDNEW
RGD ID:6804580
Promoter ID:HG_KWN:55867
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC003QXR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366170,701,271 - 170,701,771 (-)MPROMDB
RGD ID:6803976
Promoter ID:HG_KWN:55868
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:ENST00000392093,   OTTHUMT00000043278,   UC003QXQ.1,   UC003QXS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366170,704,086 - 170,704,937 (-)MPROMDB
RGD ID:6851818
Promoter ID:EP73714
Type:initiation region
Name:HS_PSMB1
Description:Proteasome (prosome, macropain) subunit, beta type, 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 366170,704,320 - 170,704,380EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9537 AgrOrtholog
COSMIC PSMB1 COSMIC
Ensembl Genes ENSG00000008018 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262193 ENTREZGENE
  ENST00000262193.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.60.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000008018 GTEx
HGNC ID HGNC:9537 ENTREZGENE
Human Proteome Map PSMB1 Human Proteome Map
InterPro Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_bsu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_sua/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_suB-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5689 ENTREZGENE
OMIM 602017 OMIM
PANTHER METALLOPROTEASE TLDD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME SUBUNIT BETA TYPE-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Proteasome UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33882 PharmGKB
PROSITE PROTEASOME_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK45 ENTREZGENE, UniProtKB/TrEMBL
  B5BU76 ENTREZGENE
  P20618 ENTREZGENE, UniProtKB/Swiss-Prot
  Q53FT8 ENTREZGENE, UniProtKB/TrEMBL
  Q9BWA8 ENTREZGENE
UniProt Secondary B5BU76 UniProtKB/Swiss-Prot
  Q9BWA8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 PSMB1  proteasome 20S subunit beta 1  PSMB1  proteasome subunit beta 1  Symbol and/or name change 5135510 APPROVED
2015-08-18 PSMB1  proteasome subunit beta 1    proteasome (prosome, macropain) subunit, beta type, 1  Symbol and/or name change 5135510 APPROVED