PSMB8 (proteasome 20S subunit beta 8) - Rat Genome Database

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Gene: PSMB8 (proteasome 20S subunit beta 8) Homo sapiens
Analyze
Symbol: PSMB8
Name: proteasome 20S subunit beta 8
RGD ID: 731895
HGNC Page HGNC:9545
Description: Predicted to enable endopeptidase activity. Involved in fat cell differentiation. Located in extracellular exosome. Part of proteasome complex. Implicated in proteasome-associated autoinflammatory syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALDD; beta5i; D6S216; D6S216E; JMP; large multifunctional peptidase 7; LMP7; low molecular mass protein 7; low molecular weight protein 7; macropain subunit C13; MGC1491; multicatalytic endopeptidase complex subunit C13; NKJO; PRAAS1; protease component C13; proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7); proteasome catalytic subunit 3i; proteasome component C13; proteasome subunit beta 5i; proteasome subunit beta 8; proteasome subunit beta type-8; proteasome subunit beta-5i; proteasome subunit Y2; proteasome-related gene 7; proteosome (prosome, macropain) subunit, beta type 8; PSMB5i; really interesting new gene 10 protein; RING10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38632,840,717 - 32,844,679 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl632,840,717 - 32,844,679 (-)EnsemblGRCh38hg38GRCh38
GRCh37632,808,494 - 32,812,456 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,916,472 - 32,920,690 (-)NCBINCBI36Build 36hg18NCBI36
Build 34632,916,472 - 32,919,792NCBI
Celera634,357,387 - 34,361,605 (-)NCBICelera
Cytogenetic Map6p21.32NCBI
HuRef632,550,700 - 32,554,918 (-)NCBIHuRef
CHM1_1632,809,321 - 32,813,539 (-)NCBICHM1_1
T2T-CHM13v2.0632,662,092 - 32,666,054 (-)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-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-trichloroethanol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
2-nitrofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dihydrocoumarin  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
aluminium atom  (ISO)
aluminium(0)  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxynivalenol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
Genipin  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
ionomycin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
ketoconazole  (EXP)
lactacystin  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
mercury dibromide  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
picrotoxin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrrolidine dithiocarbamate  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
SB 431542  (EXP)
sibutramine  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulforaphane  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Acanthosis nigricans  (IAGP)
Adipose tissue loss  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Bone pain  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomegaly  (IAGP)
Childhood onset  (IAGP)
Chronic constipation  (IAGP)
Clubbing of fingers  (IAGP)
Congestive heart failure  (IAGP)
Conjunctivitis  (IAGP)
Death in adolescence  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Epididymitis  (IAGP)
Episcleritis  (IAGP)
Erythema  (IAGP)
Erythema nodosum  (IAGP)
Failure to thrive  (IAGP)
Finger swelling  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of finger  (IAGP)
Flexion contracture of toe  (IAGP)
Growth abnormality  (IAGP)
Growth delay  (IAGP)
Gynecomastia  (IAGP)
Hallux valgus  (IAGP)
Hepatomegaly  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertrichosis  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoplastic scapulae  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased circulating antibody level  (IAGP)
Increased circulating IgA level  (IAGP)
Increased circulating IgG level  (IAGP)
Increased circulating interferon-gamma concentration  (IAGP)
Increased circulating interleukin 6 concentration  (IAGP)
Increased circulating interleukin 8 concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Irregular menstruation  (IAGP)
Lipodystrophy  (IAGP)
Long fingers  (IAGP)
Loss of facial adipose tissue  (IAGP)
Lymphadenopathy  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Microcytic anemia  (IAGP)
Muscle weakness  (IAGP)
Panniculitis  (IAGP)
Parotitis  (IAGP)
Premature graying of hair  (IAGP)
Progeroid facial appearance  (IAGP)
Prominent nose  (IAGP)
Proptosis  (IAGP)
Protuberant abdomen  (IAGP)
Punctate opacification of the cornea  (IAGP)
Recurrent fever  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinusitis  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Reduced tendon reflexes  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin plaque  (IAGP)
Sparse axillary hair  (IAGP)
Splenomegaly  (IAGP)
Stiff skin  (IAGP)
Thick lower lip vermilion  (IAGP)
Thrombocytopenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:1429565   PMID:1453454   PMID:1529427   PMID:1922342   PMID:7498531   PMID:7811265   PMID:8206875   PMID:8344725   PMID:8458375   PMID:8550087   PMID:8568858   PMID:8666937  
PMID:8811196   PMID:9079628   PMID:9157092   PMID:9271825   PMID:9311996   PMID:10329130   PMID:10358150   PMID:10657252   PMID:10893419   PMID:10926487   PMID:10975991   PMID:11051286  
PMID:11285280   PMID:11494532   PMID:11669176   PMID:11737038   PMID:11745344   PMID:11772516   PMID:11793848   PMID:12209365   PMID:12225333   PMID:12419264   PMID:12477932   PMID:12519221  
PMID:12648225   PMID:12791267   PMID:14550573   PMID:14551602   PMID:14574404   PMID:14702039   PMID:15029244   PMID:15231747   PMID:15303969   PMID:15356131   PMID:15488952   PMID:15489334  
PMID:15603870   PMID:15887188   PMID:15907481   PMID:15944226   PMID:16224524   PMID:16338279   PMID:16341674   PMID:16396320   PMID:16423992   PMID:17142736   PMID:17491658   PMID:17506986  
PMID:17525827   PMID:17581627   PMID:17703412   PMID:17948026   PMID:18248301   PMID:19037255   PMID:19065646   PMID:19148137   PMID:19193609   PMID:19202550   PMID:19258923   PMID:19403671  
PMID:19404951   PMID:19443843   PMID:19526842   PMID:19619915   PMID:19851445   PMID:19913121   PMID:20153157   PMID:20331378   PMID:20458337   PMID:20470844   PMID:20503287   PMID:20525414  
PMID:20628086   PMID:20937868   PMID:21129723   PMID:21303409   PMID:21362330   PMID:21399633   PMID:21529441   PMID:21804012   PMID:21852578   PMID:21873635   PMID:21881205   PMID:21953331  
PMID:22037870   PMID:22863883   PMID:22925930   PMID:22939629   PMID:23018640   PMID:23283737   PMID:23376485   PMID:25098831   PMID:25889472   PMID:26344197   PMID:26524591   PMID:26567544  
PMID:26618866   PMID:26894977   PMID:26944796   PMID:27098790   PMID:27100179   PMID:27132469   PMID:27156327   PMID:27213585   PMID:27789522   PMID:28207947   PMID:28700671   PMID:28721901  
PMID:29039469   PMID:29073155   PMID:29426014   PMID:29428669   PMID:29451304   PMID:29510614   PMID:29568061   PMID:29775672   PMID:30279279   PMID:30397336   PMID:31114588   PMID:31343991  
PMID:31503210   PMID:31559672   PMID:31836918   PMID:32128987   PMID:32151711   PMID:32221071   PMID:32255680   PMID:32296183   PMID:32344865   PMID:32513696   PMID:32680979   PMID:32782149  
PMID:32943490   PMID:33109760   PMID:33610037   PMID:33798908   PMID:33961781   PMID:34151713   PMID:35831314   PMID:35933405   PMID:36215168   PMID:36746983   PMID:36854567   PMID:37272200  
PMID:37562243   PMID:37762439   PMID:37974228  


Genomics

Comparative Map Data
PSMB8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38632,840,717 - 32,844,679 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl632,840,717 - 32,844,679 (-)EnsemblGRCh38hg38GRCh38
GRCh37632,808,494 - 32,812,456 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,916,472 - 32,920,690 (-)NCBINCBI36Build 36hg18NCBI36
Build 34632,916,472 - 32,919,792NCBI
Celera634,357,387 - 34,361,605 (-)NCBICelera
Cytogenetic Map6p21.32NCBI
HuRef632,550,700 - 32,554,918 (-)NCBIHuRef
CHM1_1632,809,321 - 32,813,539 (-)NCBICHM1_1
T2T-CHM13v2.0632,662,092 - 32,666,054 (-)NCBIT2T-CHM13v2.0
Psmb8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391734,417,169 - 34,420,428 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1734,416,695 - 34,420,428 (+)EnsemblGRCm39 Ensembl
GRCm381734,198,195 - 34,201,454 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,197,721 - 34,201,454 (+)EnsemblGRCm38mm10GRCm38
MGSCv371734,335,140 - 34,338,399 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361733,808,611 - 33,811,478 (+)NCBIMGSCv36mm8
Celera1736,951,781 - 36,955,036 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.98NCBI
Psmb8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8204,654,068 - 4,657,049 (-)NCBIGRCr8
mRatBN7.2204,652,159 - 4,655,122 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl204,652,159 - 4,655,283 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx205,404,875 - 5,407,839 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0204,766,618 - 4,769,582 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0205,248,299 - 5,251,264 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0203,990,809 - 3,993,772 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl203,990,613 - 3,993,769 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0206,070,355 - 6,073,317 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0207,275,040 - 7,276,378 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4204,786,260 - 4,789,223 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1204,786,490 - 4,789,389 (-)NCBI
Celera206,253,214 - 6,256,177 (-)NCBICelera
Cytogenetic Map20p12NCBI
Psmb8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554371,500,477 - 1,504,072 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554371,500,477 - 1,504,072 (-)NCBIChiLan1.0ChiLan1.0
PSMB8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2547,315,792 - 47,319,753 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1643,187,339 - 43,191,304 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0632,410,172 - 32,414,136 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1633,525,681 - 33,529,897 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl633,525,681 - 33,529,897 (-)Ensemblpanpan1.1panPan2
PSMB8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1122,419,456 - 2,422,832 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl122,378,126 - 2,432,303 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha122,501,125 - 2,504,497 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0122,701,094 - 2,704,475 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl122,701,094 - 2,714,024 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1122,418,542 - 2,421,918 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0122,500,008 - 2,503,382 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0122,574,324 - 2,577,715 (-)NCBIUU_Cfam_GSD_1.0
Psmb8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494638,048,353 - 38,051,993 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647625,908,490 - 25,911,925 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647625,908,533 - 25,911,914 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMB8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl725,058,465 - 25,062,245 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1725,058,456 - 25,061,666 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2729,425,070 - 29,428,073 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PSMB8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11739,260,774 - 39,264,990 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1739,260,511 - 39,265,166 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604432,627,347 - 32,631,067 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psmb8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475423,823,115 - 23,826,367 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475423,822,965 - 23,826,367 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMB8
194 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PSMB8, THR75MET single nucleotide variant Nakajo syndrome [RCV000022738]|PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC [RCV000663373] Chr6:6p21.3 pathogenic
NM_148919.4:c.602G>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000022740] Chr6:6p21.3 pathogenic
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000022741]|Proteosome-associated autoinflammatory syndrome [RCV003595858] Chr6:32842674 [GRCh38]
Chr6:32810451 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596094] Chr6:32842693 [GRCh38]
Chr6:32810470 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000022739] Chr6:32841671 [GRCh38]
Chr6:32809448 [GRCh37]
Chr6:6p21.32
pathogenic
NM_004159.4(PSMB8):c.583delT (p.Ser195Profs) deletion Malignant melanoma [RCV000061402] Chr6:32841678 [GRCh38]
Chr6:32809455 [GRCh37]
Chr6:32917433 [NCBI36]
Chr6:6p21.32
not provided
NM_000593.5(TAP1):c.1942C>T (p.Pro648Ser) single nucleotide variant Malignant melanoma [RCV000061403] Chr6:32847654 [GRCh38]
Chr6:32815431 [GRCh37]
Chr6:32923409 [NCBI36]
Chr6:6p21.32
not provided
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000663374] Chr6:32842766 [GRCh38]
Chr6:32810543 [GRCh37]
Chr6:6p21.32
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) single nucleotide variant Autoinflammatory syndrome [RCV002261080]|Proteasome-associated autoinflammatory syndrome 1 [RCV000272614]|Proteosome-associated autoinflammatory syndrome [RCV003761941]|not provided [RCV001572723] Chr6:32843975 [GRCh38]
Chr6:32811752 [GRCh37]
Chr6:6p21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) single nucleotide variant Autoinflammatory syndrome [RCV002263653]|Proteasome-associated autoinflammatory syndrome 1 [RCV000301215]|Proteosome-associated autoinflammatory syndrome [RCV003761934] Chr6:32841572 [GRCh38]
Chr6:32809349 [GRCh37]
Chr6:6p21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_148919.4(PSMB8):c.129T>C (p.Ala43=) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000358183]|Proteosome-associated autoinflammatory syndrome [RCV003761940]|not provided [RCV001643079] Chr6:32843868 [GRCh38]
Chr6:32811645 [GRCh37]
Chr6:6p21.32
benign|likely benign
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) single nucleotide variant Autoinflammatory syndrome [RCV002263652]|Proteasome-associated autoinflammatory syndrome 1 [RCV000402787]|Proteosome-associated autoinflammatory syndrome [RCV003595936]|not provided [RCV001531632]|not specified [RCV000503867] Chr6:32840986 [GRCh38]
Chr6:32808763 [GRCh37]
Chr6:6p21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) single nucleotide variant Autoinflammatory syndrome [RCV002261079]|Proteasome-associated autoinflammatory syndrome 1 [RCV000303434]|Proteosome-associated autoinflammatory syndrome [RCV003761939]|not provided [RCV001613181]|not specified [RCV000455896] Chr6:32843852 [GRCh38]
Chr6:32811629 [GRCh37]
Chr6:6p21.32
benign|likely benign
NM_148919.4(PSMB8):c.*8G>A single nucleotide variant Autoinflammatory syndrome [RCV002263650]|Proteasome-associated autoinflammatory syndrome 1 [RCV000288786] Chr6:32840951 [GRCh38]
Chr6:32808728 [GRCh37]
Chr6:6p21.32
likely benign|uncertain significance
NM_148919.4(PSMB8):c.*24G>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000380872] Chr6:32840935 [GRCh38]
Chr6:32808712 [GRCh37]
Chr6:6p21.32
benign|uncertain significance
NM_148919.4(PSMB8):c.*6G>C single nucleotide variant Autoinflammatory syndrome [RCV002263651]|Proteasome-associated autoinflammatory syndrome 1 [RCV000346106]|not specified [RCV000501470] Chr6:32840953 [GRCh38]
Chr6:32808730 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) single nucleotide variant Autoinflammatory syndrome [RCV002263654]|Proteasome-associated autoinflammatory syndrome 1 [RCV000337402]|Proteosome-associated autoinflammatory syndrome [RCV003761935] Chr6:32841587 [GRCh38]
Chr6:32809364 [GRCh37]
Chr6:6p21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_148919.4(PSMB8):c.192C>T (p.Asn64=) single nucleotide variant Autoinflammatory syndrome [RCV002261078]|Proteasome-associated autoinflammatory syndrome 1 [RCV000361613]|Proteosome-associated autoinflammatory syndrome [RCV003761938] Chr6:32843045 [GRCh38]
Chr6:32810822 [GRCh37]
Chr6:6p21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_148919.4(PSMB8):c.407+6C>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000297635]|Proteosome-associated autoinflammatory syndrome [RCV003761937]|not provided [RCV001675864]|not specified [RCV000455281] Chr6:32842666 [GRCh38]
Chr6:32810443 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.483G>A (p.Gln161=) single nucleotide variant Autoinflammatory syndrome [RCV002263655]|Proteasome-associated autoinflammatory syndrome 1 [RCV000393405]|Proteosome-associated autoinflammatory syndrome [RCV003761936]|not provided [RCV001726141] Chr6:32842188 [GRCh38]
Chr6:32809965 [GRCh37]
Chr6:6p21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000266887] Chr6:32843070 [GRCh38]
Chr6:32810847 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000554127] Chr6:32840975 [GRCh38]
Chr6:32808752 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.*178G>A single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000351802] Chr6:32840781 [GRCh38]
Chr6:32808558 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.-35C>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000327766] Chr6:32844031 [GRCh38]
Chr6:32811808 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) single nucleotide variant Autoinflammatory syndrome [RCV002261107]|Proteasome-associated autoinflammatory syndrome 1 [RCV000528249]|Proteosome-associated autoinflammatory syndrome [RCV003762780]|not provided [RCV001573158]|not specified [RCV001528820] Chr6:32843017 [GRCh38]
Chr6:32810794 [GRCh37]
Chr6:6p21.32
benign|likely benign
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
NM_148919.4(PSMB8):c.724T>C (p.Ser242Pro) single nucleotide variant not provided [RCV000494135] Chr6:32841549 [GRCh38]
Chr6:32809326 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.222C>A (p.Thr74=) single nucleotide variant Autoinflammatory syndrome [RCV002261108]|Proteasome-associated autoinflammatory syndrome 1 [RCV000540113]|Proteosome-associated autoinflammatory syndrome [RCV003762781] Chr6:32843015 [GRCh38]
Chr6:32810792 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) single nucleotide variant Autoinflammatory syndrome [RCV002263774]|Proteasome-associated autoinflammatory syndrome 1 [RCV000543389]|Proteosome-associated autoinflammatory syndrome [RCV003762782]|not provided [RCV001702798]|not specified [RCV001821549] Chr6:32842170 [GRCh38]
Chr6:32809947 [GRCh37]
Chr6:6p21.32
benign|likely benign
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596093] Chr6:32841558 [GRCh38]
Chr6:32809335 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.732C>T (p.Gly244=) single nucleotide variant Autoinflammatory syndrome [RCV002263877]|Proteasome-associated autoinflammatory syndrome 1 [RCV000641296]|Proteosome-associated autoinflammatory syndrome [RCV003762849] Chr6:32841541 [GRCh38]
Chr6:32809318 [GRCh37]
Chr6:6p21.32
benign|likely benign
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596092] Chr6:32840990 [GRCh38]
Chr6:32808767 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.538-10C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596095] Chr6:32841745 [GRCh38]
Chr6:32809522 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000700099]|not provided [RCV003480787] Chr6:32841603 [GRCh38]
Chr6:32809380 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596510] Chr6:32840976 [GRCh38]
Chr6:32808753 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000689557] Chr6:32841542 [GRCh38]
Chr6:32809319 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000689718] Chr6:32841640 [GRCh38]
Chr6:32809417 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) indel Proteasome-associated autoinflammatory syndrome 1 [RCV000688424] Chr6:32843069..32843070 [GRCh38]
Chr6:32810846..32810847 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) single nucleotide variant Autoinflammatory syndrome [RCV002261198]|Proteasome-associated autoinflammatory syndrome 1 [RCV000707724] Chr6:32843008 [GRCh38]
Chr6:32810785 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596520] Chr6:32842942 [GRCh38]
Chr6:32810719 [GRCh37]
Chr6:6p21.32
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
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
NM_148919.4(PSMB8):c.384G>A (p.Glu128=) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001450284] Chr6:32842695 [GRCh38]
Chr6:32810472 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.15T>C (p.Asp5=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003595639] Chr6:32843982 [GRCh38]
Chr6:32811759 [GRCh37]
Chr6:6p21.32
likely benign
NC_000006.12:g.32845139T>C single nucleotide variant not provided [RCV001680562] Chr6:32845139 [GRCh38]
Chr6:32812916 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.433C>T (p.Arg145Cys) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596661] Chr6:32842238 [GRCh38]
Chr6:32810015 [GRCh37]
Chr6:6p21.32
likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001063974] Chr6:32843860 [GRCh38]
Chr6:32811637 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763751] Chr6:32842220 [GRCh38]
Chr6:32809997 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.148-10_148-6del deletion Proteosome-associated autoinflammatory syndrome [RCV003763802] Chr6:32843095..32843099 [GRCh38]
Chr6:32810872..32810876 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.386G>A (p.Arg129His) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001036886] Chr6:32842693 [GRCh38]
Chr6:32810470 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.441A>G (p.Ser147=) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001414920] Chr6:32842230 [GRCh38]
Chr6:32810007 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763778] Chr6:32841711 [GRCh38]
Chr6:32809488 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264167]|Proteasome-associated autoinflammatory syndrome 1 [RCV001054703] Chr6:32841698 [GRCh38]
Chr6:32809475 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000797256] Chr6:32842997 [GRCh38]
Chr6:32810774 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000804736] Chr6:32842708 [GRCh38]
Chr6:32810485 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596583] Chr6:32842156 [GRCh38]
Chr6:32809933 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met) indel Proteosome-associated autoinflammatory syndrome [RCV003596592] Chr6:32842772..32842773 [GRCh38]
Chr6:32810549..32810550 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000814420] Chr6:32842154 [GRCh38]
Chr6:32809931 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) single nucleotide variant PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC [RCV000663373]|PSMB8-related condition [RCV003411802]|Proteasome-associated autoinflammatory syndrome 1 [RCV000816894]|Proteosome-associated autoinflammatory syndrome [RCV003596608] Chr6:32843013 [GRCh38]
Chr6:32810790 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596614] Chr6:32841035 [GRCh38]
Chr6:32808812 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV000823100] Chr6:32841578 [GRCh38]
Chr6:32809355 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763784] Chr6:32841699 [GRCh38]
Chr6:32809476 [GRCh37]
Chr6:6p21.32
uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NM_148919.4(PSMB8):c.316G>A (p.Val106Met) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763917] Chr6:32842763 [GRCh38]
Chr6:32810540 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763908] Chr6:32843870 [GRCh38]
Chr6:32811647 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001224235] Chr6:32842250 [GRCh38]
Chr6:32810027 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001225483]|Proteosome-associated autoinflammatory syndrome [RCV003763888]|not provided [RCV002480743] Chr6:32841729 [GRCh38]
Chr6:32809506 [GRCh37]
Chr6:6p21.32
uncertain significance|no classifications from unflagged records
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) single nucleotide variant Autoinflammatory syndrome [RCV002261306]|Proteosome-associated autoinflammatory syndrome [RCV003763853] Chr6:32843056 [GRCh38]
Chr6:32810833 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763859] Chr6:32842775 [GRCh38]
Chr6:32810552 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.*140G>A single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001153029] Chr6:32840819 [GRCh38]
Chr6:32808596 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.147+97T>G single nucleotide variant not provided [RCV001721584] Chr6:32843753 [GRCh38]
Chr6:32811530 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) single nucleotide variant Autoinflammatory syndrome [RCV002264235]|Proteasome-associated autoinflammatory syndrome 1 [RCV001226644] Chr6:32841540 [GRCh38]
Chr6:32809317 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) single nucleotide variant Inborn genetic diseases [RCV002567896]|Proteasome-associated autoinflammatory syndrome 1 [RCV001234734] Chr6:32841611 [GRCh38]
Chr6:32809388 [GRCh37]
Chr6:6p21.32
likely benign|uncertain significance
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001225524] Chr6:32842748 [GRCh38]
Chr6:32810525 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.742+85G>T single nucleotide variant not provided [RCV001636200]|not specified [RCV003399441] Chr6:32841446 [GRCh38]
Chr6:32809223 [GRCh37]
Chr6:6p21.32
benign
NC_000006.12:g.32845024G>A single nucleotide variant not provided [RCV001657624] Chr6:32845024 [GRCh38]
Chr6:32812801 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) single nucleotide variant Autoinflammatory syndrome [RCV002261294]|Proteasome-associated autoinflammatory syndrome 1 [RCV001157333] Chr6:32843057 [GRCh38]
Chr6:32810834 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.*231C>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001153028] Chr6:32840728 [GRCh38]
Chr6:32808505 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.*116C>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001153030] Chr6:32840843 [GRCh38]
Chr6:32808620 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001063509]|not provided [RCV001573942] Chr6:32841648 [GRCh38]
Chr6:32809425 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001064078] Chr6:32842729 [GRCh38]
Chr6:32810506 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.147+244T>C single nucleotide variant not provided [RCV001662964] Chr6:32843606 [GRCh38]
Chr6:32811383 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.537+63C>T single nucleotide variant not provided [RCV001690385]|not specified [RCV003401616] Chr6:32842071 [GRCh38]
Chr6:32809848 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.538-70C>A single nucleotide variant not provided [RCV001538661] Chr6:32841805 [GRCh38]
Chr6:32809582 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs) duplication Proteosome-associated autoinflammatory syndrome [RCV003763832] Chr6:32841661..32841662 [GRCh38]
Chr6:32809438..32809439 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001237120] Chr6:32842184 [GRCh38]
Chr6:32809961 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) single nucleotide variant Autoinflammatory syndrome [RCV002261273]|Proteasome-associated autoinflammatory syndrome 1 [RCV001093596] Chr6:32842694 [GRCh38]
Chr6:32810471 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001093597] Chr6:32842712 [GRCh38]
Chr6:32810489 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.493A>G (p.Met165Val) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001203750] Chr6:32842178 [GRCh38]
Chr6:32809955 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.*57C>T single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001153031] Chr6:32840902 [GRCh38]
Chr6:32808679 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001232746] Chr6:32842965 [GRCh38]
Chr6:32810742 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.556G>A (p.Val186Met) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762977] Chr6:32841717 [GRCh38]
Chr6:32809494 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003770659] Chr6:32843971 [GRCh38]
Chr6:32811748 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003770543] Chr6:32843864 [GRCh38]
Chr6:32811641 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003771027] Chr6:32842728 [GRCh38]
Chr6:32810505 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.145C>T (p.Gln49Ter) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001334588] Chr6:32843852 [GRCh38]
Chr6:32811629 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) single nucleotide variant Autoinflammatory syndrome [RCV002264267]|Proteasome-associated autoinflammatory syndrome 1 [RCV001321468] Chr6:32841607 [GRCh38]
Chr6:32809384 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763935] Chr6:32843962 [GRCh38]
Chr6:32811739 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001361714] Chr6:32840992 [GRCh38]
Chr6:32808769 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001363614] Chr6:32843044 [GRCh38]
Chr6:32810821 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.600G>A (p.Thr200=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003771099] Chr6:32841673 [GRCh38]
Chr6:32809450 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761198] Chr6:32843067 [GRCh38]
Chr6:32810844 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.756G>A (p.Lys252=) single nucleotide variant Autoinflammatory syndrome [RCV002264303]|Proteosome-associated autoinflammatory syndrome [RCV003761252] Chr6:32841034 [GRCh38]
Chr6:32808811 [GRCh37]
Chr6:6p21.32
likely benign|uncertain significance
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001337702]|Proteosome-associated autoinflammatory syndrome [RCV003770878] Chr6:32841648 [GRCh38]
Chr6:32809425 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003770711] Chr6:32841542 [GRCh38]
Chr6:32809319 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003771140] Chr6:32843853 [GRCh38]
Chr6:32811630 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001371846] Chr6:32843897 [GRCh38]
Chr6:32811674 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001306743] Chr6:32842249 [GRCh38]
Chr6:32810026 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.555C>T (p.Tyr185=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761329] Chr6:32841718 [GRCh38]
Chr6:32809495 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.148-18C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761387] Chr6:32843107 [GRCh38]
Chr6:32810884 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.672C>T (p.Ala224=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761324] Chr6:32841601 [GRCh38]
Chr6:32809378 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.624C>T (p.Tyr208=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003771407] Chr6:32841649 [GRCh38]
Chr6:32809426 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.537+8C>T single nucleotide variant Autoinflammatory syndrome [RCV002264301]|Proteosome-associated autoinflammatory syndrome [RCV003761244] Chr6:32842126 [GRCh38]
Chr6:32809903 [GRCh37]
Chr6:6p21.32
likely benign|uncertain significance
NM_148919.4(PSMB8):c.195T>A (p.Val65=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761284] Chr6:32843042 [GRCh38]
Chr6:32810819 [GRCh37]
Chr6:6p21.32
likely benign
NC_000006.12:g.32845081A>G single nucleotide variant not provided [RCV001650729] Chr6:32845081 [GRCh38]
Chr6:32812858 [GRCh37]
Chr6:6p21.32
benign
NR_037173.1(PSMB8-AS1):n.296C>T single nucleotide variant not provided [RCV001679518] Chr6:32844751 [GRCh38]
Chr6:32812528 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.742+232C>T single nucleotide variant not provided [RCV001652240] Chr6:32841299 [GRCh38]
Chr6:32809076 [GRCh37]
Chr6:6p21.32
benign
NC_000006.12:g.32844877TG[1] microsatellite not provided [RCV001644492] Chr6:32844877..32844878 [GRCh38]
Chr6:32812654..32812655 [GRCh37]
Chr6:6p21.32
benign
NM_148919.4(PSMB8):c.21C>T (p.Cys7=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761279] Chr6:32843976 [GRCh38]
Chr6:32811753 [GRCh37]
Chr6:6p21.32
likely benign
NC_000006.11:g.(?_32810848)_32811339del deletion Proteasome-associated autoinflammatory syndrome 1 [RCV001379428]   likely pathogenic
NM_148919.4(PSMB8):c.315G>A (p.Lys105=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761351] Chr6:32842764 [GRCh38]
Chr6:32810541 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.269C>T (p.Ser90Phe) single nucleotide variant not provided [RCV001763364] Chr6:32842968 [GRCh38]
Chr6:32810745 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773309] Chr6:32843046 [GRCh38]
Chr6:32810823 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773239] Chr6:32842719 [GRCh38]
Chr6:32810496 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597252] Chr6:32842201 [GRCh38]
Chr6:32809978 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.492C>T (p.Gly164=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762074] Chr6:32842179 [GRCh38]
Chr6:32809956 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762032] Chr6:32843049 [GRCh38]
Chr6:32810826 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762064] Chr6:32841546 [GRCh38]
Chr6:32809323 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003772641] Chr6:32842241 [GRCh38]
Chr6:32810018 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter) single nucleotide variant Autoinflammatory syndrome [RCV002264415]|Proteosome-associated autoinflammatory syndrome [RCV003762021] Chr6:32842190 [GRCh38]
Chr6:32809967 [GRCh37]
Chr6:6p21.32
pathogenic|likely pathogenic
NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003772721] Chr6:32843086 [GRCh38]
Chr6:32810863 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val) indel Proteosome-associated autoinflammatory syndrome [RCV003772509] Chr6:32843987..32843988 [GRCh38]
Chr6:32811764..32811765 [GRCh37]
Chr6:6p21.32
uncertain significance
NC_000006.11:g.(?_32802911)_(32808844_?)dup duplication MHC class I deficiency [RCV001974830]|Proteasome-associated autoinflammatory syndrome 1 [RCV001974831] Chr6:32802911..32808844 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762047] Chr6:32842944 [GRCh38]
Chr6:32810721 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001906370] Chr6:32843083 [GRCh38]
Chr6:32810860 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.710A>G (p.His237Arg) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV001939225] Chr6:32841563 [GRCh38]
Chr6:32809340 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762081] Chr6:32841543 [GRCh38]
Chr6:32809320 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.148-17C>G single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597410] Chr6:32843106 [GRCh38]
Chr6:32810883 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.295+12C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597374] Chr6:32842930 [GRCh38]
Chr6:32810707 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.296-15T>C single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003774025] Chr6:32842798 [GRCh38]
Chr6:32810575 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.648G>C (p.Arg216=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762147] Chr6:32841625 [GRCh38]
Chr6:32809402 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.189G>A (p.Arg63=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773859] Chr6:32843048 [GRCh38]
Chr6:32810825 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.538-8T>C single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597289] Chr6:32841743 [GRCh38]
Chr6:32809520 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.309G>T (p.Val103=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773966] Chr6:32842770 [GRCh38]
Chr6:32810547 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.296-4C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773718] Chr6:32842787 [GRCh38]
Chr6:32810564 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.393G>A (p.Leu131=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773979] Chr6:32842686 [GRCh38]
Chr6:32810463 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.576G>A (p.Arg192=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773728] Chr6:32841697 [GRCh38]
Chr6:32809474 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.762T>C (p.Asp254=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597356] Chr6:32841028 [GRCh38]
Chr6:32808805 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.147+15G>A single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003774081] Chr6:32843835 [GRCh38]
Chr6:32811612 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.561T>C (p.Asp187=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003773864] Chr6:32841712 [GRCh38]
Chr6:32809489 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.537+17C>A single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003774040] Chr6:32842117 [GRCh38]
Chr6:32809894 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV003112397] Chr6:32841627 [GRCh38]
Chr6:32809404 [GRCh37]
Chr6:6p21.32
uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2
uncertain significance
NM_148919.4(PSMB8):c.31dup (p.Arg11fs) duplication Proteosome-associated autoinflammatory syndrome [RCV003774754]|See cases [RCV002252654] Chr6:32843965..32843966 [GRCh38]
Chr6:32811742..32811743 [GRCh37]
Chr6:6p21.32
pathogenic|uncertain significance
NM_148919.4(PSMB8):c.112C>A (p.Arg38=) single nucleotide variant Autoinflammatory syndrome [RCV002262005] Chr6:32843885 [GRCh38]
Chr6:32811662 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.512G>A (p.Ser171Asn) single nucleotide variant not provided [RCV002261779] Chr6:32842159 [GRCh38]
Chr6:32809936 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.548T>C (p.Leu183Pro) single nucleotide variant Autoinflammatory syndrome [RCV002264488] Chr6:32841725 [GRCh38]
Chr6:32809502 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.240C>T (p.Phe80=) single nucleotide variant Autoinflammatory syndrome [RCV002262006]|Proteosome-associated autoinflammatory syndrome [RCV003763063] Chr6:32842997 [GRCh38]
Chr6:32810774 [GRCh37]
Chr6:6p21.32
likely benign|uncertain significance
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp) single nucleotide variant Proteasome-associated autoinflammatory syndrome 1 [RCV003095900]|not provided [RCV002261780] Chr6:32842966 [GRCh38]
Chr6:32810743 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.392T>C (p.Leu131Pro) single nucleotide variant Autoinflammatory syndrome [RCV002262007] Chr6:32842687 [GRCh38]
Chr6:32810464 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.407+7G>A single nucleotide variant Autoinflammatory syndrome [RCV002262008]|Proteosome-associated autoinflammatory syndrome [RCV003597420] Chr6:32842665 [GRCh38]
Chr6:32810442 [GRCh37]
Chr6:6p21.32
likely benign|uncertain significance
NM_148919.4(PSMB8):c.408G>C (p.Arg136Ser) single nucleotide variant Autoinflammatory syndrome [RCV002264486] Chr6:32842263 [GRCh38]
Chr6:32810040 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.434G>A (p.Arg145His) single nucleotide variant Autoinflammatory syndrome [RCV002264487] Chr6:32842237 [GRCh38]
Chr6:32810014 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.807C>A (p.His269Gln) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763079] Chr6:32840983 [GRCh38]
Chr6:32808760 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.83C>G (p.Ser28Trp) single nucleotide variant Inborn genetic diseases [RCV002751764] Chr6:32843914 [GRCh38]
Chr6:32811691 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.212A>G (p.His71Arg) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596192] Chr6:32843025 [GRCh38]
Chr6:32810802 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.408G>A (p.Arg136=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764123] Chr6:32842263 [GRCh38]
Chr6:32810040 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.97T>C (p.Tyr33His) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763188] Chr6:32843900 [GRCh38]
Chr6:32811677 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763983] Chr6:32843863 [GRCh38]
Chr6:32811640 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.447G>A (p.Ser149=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596142] Chr6:32842224 [GRCh38]
Chr6:32810001 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.69_147+42del deletion Proteosome-associated autoinflammatory syndrome [RCV003764014] Chr6:32843808..32843928 [GRCh38]
Chr6:32811585..32811705 [GRCh37]
Chr6:6p21.32
likely pathogenic
NM_148919.4(PSMB8):c.148-13T>C single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764150] Chr6:32843102 [GRCh38]
Chr6:32810879 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.284G>T (p.Gly95Val) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761495] Chr6:32842953 [GRCh38]
Chr6:32810730 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764099] Chr6:32841626 [GRCh38]
Chr6:32809403 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764168] Chr6:32842963 [GRCh38]
Chr6:32810740 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.504T>C (p.Ser168=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764118] Chr6:32842167 [GRCh38]
Chr6:32809944 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.742+15C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764036] Chr6:32841516 [GRCh38]
Chr6:32809293 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.743-5C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761513] Chr6:32841052 [GRCh38]
Chr6:32808829 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.567T>C (p.His189=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776869] Chr6:32841706 [GRCh38]
Chr6:32809483 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764078] Chr6:32841579 [GRCh38]
Chr6:32809356 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.60G>T (p.Pro20=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776700] Chr6:32843937 [GRCh38]
Chr6:32811714 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.606T>C (p.Ser202=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761446] Chr6:32841667 [GRCh38]
Chr6:32809444 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763992] Chr6:32841031 [GRCh38]
Chr6:32808808 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs) microsatellite Proteosome-associated autoinflammatory syndrome [RCV003764204] Chr6:32841005..32841006 [GRCh38]
Chr6:32808782..32808783 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.312C>T (p.Asn104=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776967] Chr6:32842767 [GRCh38]
Chr6:32810544 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs) deletion Proteosome-associated autoinflammatory syndrome [RCV003763210] Chr6:32840958..32840964 [GRCh38]
Chr6:32808735..32808741 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.342T>C (p.Leu114=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776593] Chr6:32842737 [GRCh38]
Chr6:32810514 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776941] Chr6:32840978 [GRCh38]
Chr6:32808755 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.6G>C (p.Ala2=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761536] Chr6:32843991 [GRCh38]
Chr6:32811768 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.609G>A (p.Gly203=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776895] Chr6:32841664 [GRCh38]
Chr6:32809441 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.735T>C (p.Val245=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596112] Chr6:32841538 [GRCh38]
Chr6:32809315 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.296-15T>G single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764109] Chr6:32842798 [GRCh38]
Chr6:32810575 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.547C>T (p.Leu183Phe) single nucleotide variant Inborn genetic diseases [RCV002809188] Chr6:32841726 [GRCh38]
Chr6:32809503 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761488] Chr6:32842204 [GRCh38]
Chr6:32809981 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764135] Chr6:32843858 [GRCh38]
Chr6:32811635 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.40C>G (p.Arg14Gly) single nucleotide variant Inborn genetic diseases [RCV002965850] Chr6:32843957 [GRCh38]
Chr6:32811734 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.27C>A (p.Ala9=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003776865] Chr6:32843970 [GRCh38]
Chr6:32811747 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.228C>G (p.Leu76=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003761471] Chr6:32843009 [GRCh38]
Chr6:32810786 [GRCh37]
Chr6:6p21.32
likely benign
NC_000006.11:g.(?_32148920)_(36953949_?)dup duplication not provided [RCV003154914] Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2
uncertain significance
NM_148919.4(PSMB8):c.254T>C (p.Ile85Thr) single nucleotide variant Inborn genetic diseases [RCV003304409] Chr6:32842983 [GRCh38]
Chr6:32810760 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.272G>C (p.Arg91Pro) single nucleotide variant not provided [RCV003332602] Chr6:32842965 [GRCh38]
Chr6:32810742 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.690G>A (p.Arg230=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003873277] Chr6:32841583 [GRCh38]
Chr6:32809360 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.447G>T (p.Ser149=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003882569] Chr6:32842224 [GRCh38]
Chr6:32810001 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.537+18T>C single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596998] Chr6:32842116 [GRCh38]
Chr6:32809893 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.135C>T (p.Pro45=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762414] Chr6:32843862 [GRCh38]
Chr6:32811639 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.258A>G (p.Ala86=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762468] Chr6:32842979 [GRCh38]
Chr6:32810756 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.227_230dup (p.Phe78fs) duplication Proteosome-associated autoinflammatory syndrome [RCV003597148] Chr6:32843006..32843007 [GRCh38]
Chr6:32810783..32810784 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.18A>C (p.Val6=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597175] Chr6:32843979 [GRCh38]
Chr6:32811756 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596318] Chr6:32842950 [GRCh38]
Chr6:32810727 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?) deletion Proteosome-associated autoinflammatory syndrome [RCV003596403] Chr6:32840960..32840961 [GRCh38]
Chr6:32808737..32808738 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.108_118del (p.Met37fs) deletion Proteosome-associated autoinflammatory syndrome [RCV003762500] Chr6:32843879..32843889 [GRCh38]
Chr6:32811656..32811666 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.383del (p.Glu128fs) deletion Proteosome-associated autoinflammatory syndrome [RCV003762683] Chr6:32842696 [GRCh38]
Chr6:32810473 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.228C>T (p.Leu76=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003596718] Chr6:32843009 [GRCh38]
Chr6:32810786 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763343] Chr6:32841588 [GRCh38]
Chr6:32809365 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.162C>T (p.Phe54=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762252] Chr6:32843075 [GRCh38]
Chr6:32810852 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.57C>T (p.Leu19=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763256] Chr6:32843940 [GRCh38]
Chr6:32811717 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.51G>C (p.Ser17=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763708] Chr6:32843946 [GRCh38]
Chr6:32811723 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.103T>G (p.Phe35Val) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003762501] Chr6:32843894 [GRCh38]
Chr6:32811671 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.408-17A>G single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003764240] Chr6:32842280 [GRCh38]
Chr6:32810057 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003597044] Chr6:32843019 [GRCh38]
Chr6:32810796 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_148919.4(PSMB8):c.147+19C>T single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003833908] Chr6:32843831 [GRCh38]
Chr6:32811608 [GRCh37]
Chr6:6p21.32
likely benign
NM_148919.4(PSMB8):c.50C>A (p.Ser17Ter) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003763371] Chr6:32843947 [GRCh38]
Chr6:32811724 [GRCh37]
Chr6:6p21.32
pathogenic
NM_148919.4(PSMB8):c.304C>A (p.Arg102=) single nucleotide variant Proteosome-associated autoinflammatory syndrome [RCV003860981] Chr6:32842775 [GRCh38]
Chr6:32810552 [GRCh37]
Chr6:6p21.32
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1185
Count of miRNA genes:489
Interacting mature miRNAs:562
Transcripts:ENST00000374881, ENST00000374882, ENST00000395339, ENST00000484003, ENST00000490613
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH70842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,021 - 32,813,220UniSTSGRCh37
Build 36632,920,999 - 32,921,198RGDNCBI36
Celera634,361,914 - 34,362,113RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,227 - 32,555,426UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6509.1UniSTS
RH70734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,808,513 - 32,808,593UniSTSGRCh37
Build 36632,916,491 - 32,916,571RGDNCBI36
Celera634,357,406 - 34,357,486RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,550,719 - 32,550,799UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6509.1UniSTS
GDB:545427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,808,739 - 32,809,502UniSTSGRCh37
Build 36632,916,717 - 32,917,480RGDNCBI36
Celera634,357,632 - 34,358,395RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,550,945 - 32,551,708UniSTS
RH46725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,019 - 32,813,155UniSTSGRCh37
Build 36632,920,997 - 32,921,133RGDNCBI36
Celera634,361,912 - 34,362,048RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,225 - 32,555,361UniSTS
GeneMap99-GB4 RH Map6119.43UniSTS
NCBI RH Map6509.1UniSTS
D6S2042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,098 - 32,813,333UniSTSGRCh37
Build 36632,921,076 - 32,921,311RGDNCBI36
Celera634,361,991 - 34,362,226RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,304 - 32,555,539UniSTS
RH69680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,021 - 32,813,150UniSTSGRCh37
Build 36632,920,999 - 32,921,128RGDNCBI36
Celera634,361,914 - 34,362,043RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,227 - 32,555,356UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6509.1UniSTS
D6S2125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,808,600 - 32,808,748UniSTSGRCh37
Build 36632,916,578 - 32,916,726RGDNCBI36
Celera634,357,493 - 34,357,641RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,550,806 - 32,550,954UniSTS
RH46789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,808,600 - 32,808,779UniSTSGRCh37
Build 36632,916,578 - 32,916,757RGDNCBI36
Celera634,357,493 - 34,357,672RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,550,806 - 32,550,985UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6509.1UniSTS
LMP7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,808,812 - 32,808,953UniSTSGRCh37
Build 36632,916,790 - 32,916,931RGDNCBI36
Celera634,357,705 - 34,357,846RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,551,018 - 32,551,159UniSTS
GeneMap99-GB4 RH Map6119.82UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 5
Medium 2419 2906 1701 603 1942 444 3846 1615 3172 410 1241 1570 171 1204 2293 1
Low 14 85 22 19 7 19 510 575 538 8 207 30 4 1 495 4 2
Below cutoff 6 2 1 1 5 13 1 6 9 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA807046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL935043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW242683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG485076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG547344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG760674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM547457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM781620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX088556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX682530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX927138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR762476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT009502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z14982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000374881   ⟹   ENSP00000364015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,717 - 32,844,679 (-)Ensembl
RefSeq Acc Id: ENST00000374882   ⟹   ENSP00000364016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,717 - 32,844,047 (-)Ensembl
RefSeq Acc Id: ENST00000395339   ⟹   ENSP00000378748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,717 - 32,844,020 (-)Ensembl
RefSeq Acc Id: ENST00000484003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,841,021 - 32,844,651 (-)Ensembl
RefSeq Acc Id: ENST00000490613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,717 - 32,842,034 (-)Ensembl
RefSeq Acc Id: ENST00000650411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,738 - 32,844,557 (-)Ensembl
RefSeq Acc Id: ENST00000650793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,736 - 32,844,017 (-)Ensembl
RefSeq Acc Id: ENST00000697612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl632,840,751 - 32,843,935 (-)Ensembl
RefSeq Acc Id: NM_004159   ⟹   NP_004150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,840,717 - 32,844,679 (-)NCBI
GRCh37632,808,494 - 32,812,712 (-)ENTREZGENE
Build 36632,916,472 - 32,920,690 (-)NCBI Archive
HuRef632,550,700 - 32,554,918 (-)ENTREZGENE
CHM1_1632,809,321 - 32,813,539 (-)NCBI
T2T-CHM13v2.0632,662,092 - 32,666,054 (-)NCBI
Sequence:
RefSeq Acc Id: NM_148919   ⟹   NP_683720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,840,717 - 32,844,047 (-)NCBI
GRCh37632,808,494 - 32,812,712 (-)ENTREZGENE
Build 36632,916,472 - 32,919,794 (-)NCBI Archive
HuRef632,550,700 - 32,554,918 (-)ENTREZGENE
CHM1_1632,809,321 - 32,812,643 (-)NCBI
T2T-CHM13v2.0632,662,092 - 32,665,422 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004150 (Get FASTA)   NCBI Sequence Viewer  
  NP_683720 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA56777 (Get FASTA)   NCBI Sequence Viewer  
  AAA56778 (Get FASTA)   NCBI Sequence Viewer  
  AAA80234 (Get FASTA)   NCBI Sequence Viewer  
  AAA80235 (Get FASTA)   NCBI Sequence Viewer  
  AAH01114 (Get FASTA)   NCBI Sequence Viewer  
  AHW47925 (Get FASTA)   NCBI Sequence Viewer  
  AHW47942 (Get FASTA)   NCBI Sequence Viewer  
  AHW47959 (Get FASTA)   NCBI Sequence Viewer  
  AHW47976 (Get FASTA)   NCBI Sequence Viewer  
  BAH13383 (Get FASTA)   NCBI Sequence Viewer  
  CAA44482 (Get FASTA)   NCBI Sequence Viewer  
  CAA47026 (Get FASTA)   NCBI Sequence Viewer  
  CAA60786 (Get FASTA)   NCBI Sequence Viewer  
  CAA60787 (Get FASTA)   NCBI Sequence Viewer  
  CAA78705 (Get FASTA)   NCBI Sequence Viewer  
  CAA78706 (Get FASTA)   NCBI Sequence Viewer  
  CAG46462 (Get FASTA)   NCBI Sequence Viewer  
  EAX03644 (Get FASTA)   NCBI Sequence Viewer  
  EAX03645 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000364015
  ENSP00000364015.2
  ENSP00000364016
  ENSP00000364016.4
  ENSP00000372723.4
  ENSP00000372725.4
  ENSP00000378748.3
  ENSP00000382538.3
  ENSP00000392693.2
  ENSP00000394090.2
  ENSP00000394155.2
  ENSP00000396430.2
  ENSP00000397057.2
  ENSP00000401868.2
  ENSP00000402406.2
  ENSP00000404585.2
  ENSP00000404615.2
  ENSP00000406797.2
  ENSP00000406878.2
  ENSP00000406913.2
  ENSP00000407539.2
  ENSP00000408825.2
  ENSP00000410205.2
  ENSP00000412618.2
  ENSP00000414731.2
  ENSP00000414770.2
GenBank Protein P28062 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004150   ⟸   NM_004159
- Peptide Label: isoform E1
- UniProtKB: Q6FHU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_683720   ⟸   NM_148919
- Peptide Label: isoform E2 precursor
- UniProtKB: Q5QNR8 (UniProtKB/Swiss-Prot),   Q5JNW6 (UniProtKB/Swiss-Prot),   Q29824 (UniProtKB/Swiss-Prot),   B0UZC0 (UniProtKB/Swiss-Prot),   Q96J48 (UniProtKB/Swiss-Prot),   P28062 (UniProtKB/Swiss-Prot),   X5CMJ9 (UniProtKB/TrEMBL),   X5D2R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000364015   ⟸   ENST00000374881
RefSeq Acc Id: ENSP00000364016   ⟸   ENST00000374882
RefSeq Acc Id: ENSP00000378748   ⟸   ENST00000395339

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28062-F1-model_v2 AlphaFold P28062 1-276 view protein structure

Promoters
RGD ID:6872806
Promoter ID:EPDNEW_H9568
Type:initiation region
Name:PSMB8_1
Description:proteasome subunit beta 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9569  EPDNEW_H9570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,844,047 - 32,844,107EPDNEW
RGD ID:6872808
Promoter ID:EPDNEW_H9569
Type:initiation region
Name:PSMB8_2
Description:proteasome subunit beta 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9568  EPDNEW_H9570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,844,633 - 32,844,693EPDNEW
RGD ID:6872810
Promoter ID:EPDNEW_H9570
Type:initiation region
Name:PSMB8_3
Description:proteasome subunit beta 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9568  EPDNEW_H9569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,845,151 - 32,845,211EPDNEW
RGD ID:6804581
Promoter ID:HG_KWN:53128
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000276209
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,917,296 - 32,918,697 (-)MPROMDB
RGD ID:6804582
Promoter ID:HG_KWN:53129
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:ENST00000395339,   NM_004159,   OTTHUMT00000076617,   OTTHUMT00000276207
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,919,796 - 32,921,497 (-)MPROMDB
RGD ID:6852506
Promoter ID:EP74065
Type:single initiation site
Name:HS_PSMB8
Description:Proteasome (prosome, macropain) subunit, beta type, 8 (large 7)tifunctional protease 7).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,920,906 - 32,920,966EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9545 AgrOrtholog
COSMIC PSMB8 COSMIC
Ensembl Genes ENSG00000204264 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206298 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000226201 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000230034 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000230669 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000231631 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000235715 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000236443 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374881 ENTREZGENE
  ENST00000374881.3 UniProtKB/Swiss-Prot
  ENST00000374882 ENTREZGENE
  ENST00000374882.8 UniProtKB/Swiss-Prot
  ENST00000383236.8 UniProtKB/Swiss-Prot
  ENST00000383238.4 UniProtKB/Swiss-Prot
  ENST00000395339.7 UniProtKB/TrEMBL
  ENST00000399630.7 UniProtKB/TrEMBL
  ENST00000416134.2 UniProtKB/Swiss-Prot
  ENST00000416564.2 UniProtKB/Swiss-Prot
  ENST00000421445.6 UniProtKB/Swiss-Prot
  ENST00000425784.6 UniProtKB/TrEMBL
  ENST00000427919.6 UniProtKB/TrEMBL
  ENST00000429645.6 UniProtKB/Swiss-Prot
  ENST00000435978.6 UniProtKB/Swiss-Prot
  ENST00000436627.2 UniProtKB/Swiss-Prot
  ENST00000438442.6 UniProtKB/Swiss-Prot
  ENST00000441960.6 UniProtKB/Swiss-Prot
  ENST00000446762.6 UniProtKB/TrEMBL
  ENST00000446855.6 UniProtKB/TrEMBL
  ENST00000447073.6 UniProtKB/TrEMBL
  ENST00000449883.2 UniProtKB/TrEMBL
  ENST00000452573.2 UniProtKB/Swiss-Prot
  ENST00000455660.6 UniProtKB/Swiss-Prot
  ENST00000457261.6 UniProtKB/Swiss-Prot
  ENST00000458543.2 UniProtKB/TrEMBL
Gene3D-CATH 3.60.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204264 GTEx
  ENSG00000206298 GTEx
  ENSG00000226201 GTEx
  ENSG00000230034 GTEx
  ENSG00000230669 GTEx
  ENSG00000231631 GTEx
  ENSG00000235715 GTEx
  ENSG00000236443 GTEx
HGNC ID HGNC:9545 ENTREZGENE
Human Proteome Map PSMB8 Human Proteome Map
InterPro Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_T1A_subB 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:5696 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5696 ENTREZGENE
OMIM 177046 OMIM
PANTHER METALLOPROTEASE TLDD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Proteasome UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33890 PharmGKB
PRINTS PROTEASOME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 A0A140T998_HUMAN UniProtKB/TrEMBL
  B0UZC0 ENTREZGENE
  P28062 ENTREZGENE, UniProtKB/Swiss-Prot
  Q29824 ENTREZGENE
  Q5JNW6 ENTREZGENE
  Q5JNW7_HUMAN UniProtKB/TrEMBL
  Q5QNR8 ENTREZGENE
  Q6FHU0 ENTREZGENE, UniProtKB/TrEMBL
  Q96J48 ENTREZGENE
  X5CMJ9 ENTREZGENE, UniProtKB/TrEMBL
  X5D2R7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B0UZC0 UniProtKB/Swiss-Prot
  Q29824 UniProtKB/Swiss-Prot
  Q5JNW6 UniProtKB/Swiss-Prot
  Q5QNR8 UniProtKB/Swiss-Prot
  Q96J48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 PSMB8  proteasome 20S subunit beta 8  PSMB8  proteasome subunit beta 8  Symbol and/or name change 5135510 APPROVED
2015-08-18 PSMB8  proteasome subunit beta 8  PSMB8  proteasome (prosome, macropain) subunit, beta type, 8  Symbol and/or name change 5135510 APPROVED
2013-04-02 PSMB8  proteasome (prosome, macropain) subunit, beta type, 8  PSMB8  proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)  Symbol and/or name change 5135510 APPROVED