FBXO5 (F-box protein 5) - Rat Genome Database

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Gene: FBXO5 (F-box protein 5) Homo sapiens
Analyze
Symbol: FBXO5
Name: F-box protein 5
RGD ID: 1319734
HGNC Page HGNC:13584
Description: Enables anaphase-promoting complex binding activity; protein kinase binding activity; and ubiquitin ligase inhibitor activity. Involved in several processes, including negative regulation of cellular senescence; positive regulation of mesenchymal stem cell migration; and regulation of cell cycle process. Located in cytoplasm; nucleoplasm; and spindle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: early fission inhibitory protein 1; early mitotic inhibitor 1; EMI1; F-box only protein 5; F-box protein Fbx5; FBX5; Fbxo31
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
GRCh386152,970,535 - 152,983,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6152,970,519 - 152,983,579 (-)EnsemblGRCh38hg38GRCh38
GRCh376153,291,670 - 153,304,714 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366153,333,351 - 153,345,867 (-)NCBINCBI36Build 36hg18NCBI36
Build 346153,383,773 - 153,396,288NCBI
Celera6154,025,328 - 154,038,410 (-)NCBICelera
Cytogenetic Map6q25.2NCBI
HuRef6150,854,447 - 150,867,531 (-)NCBIHuRef
CHM1_16153,555,576 - 153,568,660 (-)NCBICHM1_1
T2T-CHM13v2.06154,171,829 - 154,184,878 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crotonaldehyde  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Echimidine  (EXP)
Enterolactone  (EXP)
folpet  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
hydroquinone  (EXP)
Lasiocarpine  (EXP)
leflunomide  (EXP)
lidocaine  (ISO)
lucanthone  (EXP)
methyl methanesulfonate  (EXP)
monocrotaline  (EXP)
N(4)-hydroxycytidine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nocodazole  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
palbociclib  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
riddelliine  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vincristine  (EXP)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
meiotic spindle  (IEA,ISS)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)
spindle  (IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10409428   PMID:10531035   PMID:10531037   PMID:10828603   PMID:11389834   PMID:11751633   PMID:11976684   PMID:11988738   PMID:12477932   PMID:12703993   PMID:12791267   PMID:14574404  
PMID:14702039   PMID:15148369   PMID:15469984   PMID:15489334   PMID:16344560   PMID:16439210   PMID:16861914   PMID:16921029   PMID:17190794   PMID:17234884   PMID:17380122   PMID:17463251  
PMID:17485488   PMID:17609108   PMID:17676996   PMID:17719540   PMID:17875940   PMID:18029348   PMID:18204430   PMID:18662541   PMID:19211842   PMID:19822658   PMID:20360068   PMID:20641033  
PMID:20717963   PMID:20800603   PMID:21454540   PMID:21873635   PMID:21988832   PMID:22017875   PMID:22623531   PMID:22658674   PMID:22995332   PMID:23086937   PMID:23202783   PMID:23535732  
PMID:23645673   PMID:23708001   PMID:23708605   PMID:24074588   PMID:24277465   PMID:25332235   PMID:25750436   PMID:25900982   PMID:26083744   PMID:26091241   PMID:26288249   PMID:26496610  
PMID:27065322   PMID:27705803   PMID:28514442   PMID:28700943   PMID:29103612   PMID:29850565   PMID:29875408   PMID:30194290   PMID:30258100   PMID:30341246   PMID:30554948   PMID:31036696  
PMID:31130363   PMID:31257023   PMID:31732153   PMID:31753913   PMID:32076268   PMID:32296183   PMID:32694731   PMID:33306668   PMID:33412559   PMID:33785736   PMID:33961781   PMID:34079125  
PMID:34373451   PMID:34672954   PMID:35271311   PMID:35563538   PMID:35634770   PMID:35720327   PMID:35813202   PMID:37121410   PMID:37168048   PMID:37499664   PMID:38041032  


Genomics

Comparative Map Data
FBXO5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386152,970,535 - 152,983,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6152,970,519 - 152,983,579 (-)EnsemblGRCh38hg38GRCh38
GRCh376153,291,670 - 153,304,714 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366153,333,351 - 153,345,867 (-)NCBINCBI36Build 36hg18NCBI36
Build 346153,383,773 - 153,396,288NCBI
Celera6154,025,328 - 154,038,410 (-)NCBICelera
Cytogenetic Map6q25.2NCBI
HuRef6150,854,447 - 150,867,531 (-)NCBIHuRef
CHM1_16153,555,576 - 153,568,660 (-)NCBICHM1_1
T2T-CHM13v2.06154,171,829 - 154,184,878 (-)NCBIT2T-CHM13v2.0
Fbxo5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39105,749,155 - 5,755,465 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl105,749,160 - 5,755,600 (-)EnsemblGRCm39 Ensembl
GRCm38105,799,158 - 5,805,465 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl105,799,160 - 5,805,600 (-)EnsemblGRCm38mm10GRCm38
MGSCv37104,541,076 - 4,547,383 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36104,541,076 - 4,546,998 (+)NCBIMGSCv36mm8
Celera105,733,112 - 5,739,409 (-)NCBICelera
Cytogenetic Map10A1NCBI
cM Map101.91NCBI
Fbxo5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8144,601,412 - 44,607,781 (-)NCBIGRCr8
mRatBN7.2142,196,068 - 42,202,437 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl142,196,068 - 42,202,437 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx142,738,271 - 42,744,646 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0148,725,464 - 48,731,839 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0142,813,736 - 42,820,111 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0142,461,277 - 42,467,646 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl142,461,291 - 42,467,586 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0143,791,187 - 43,797,556 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4136,492,134 - 36,498,503 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1136,495,551 - 36,501,323 (-)NCBI
Celera137,863,352 - 37,869,721 (-)NCBICelera
Cytogenetic Map1q11NCBI
Fbxo5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554398,830,975 - 8,843,828 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554398,830,658 - 8,843,653 (+)NCBIChiLan1.0ChiLan1.0
FBXO5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25172,999,614 - 173,012,769 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16170,892,462 - 170,905,617 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06150,793,020 - 150,806,008 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16155,481,767 - 155,494,689 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6155,481,753 - 155,494,231 (-)Ensemblpanpan1.1panPan2
FBXO5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1143,138,338 - 43,149,546 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl143,138,889 - 43,149,297 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha143,975,851 - 43,987,186 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0143,321,686 - 43,333,047 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl143,322,263 - 43,332,336 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1143,189,124 - 43,200,485 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0143,052,605 - 43,063,915 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0143,540,287 - 43,551,650 (-)NCBIUU_Cfam_GSD_1.0
Fbxo5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946138,337,977 - 138,349,305 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364895,589,538 - 5,600,539 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364895,589,621 - 5,602,221 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBXO5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl113,467,501 - 13,505,928 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1113,466,961 - 13,478,496 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2115,716,714 - 15,728,617 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBXO5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11380,453,345 - 80,467,590 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1380,453,355 - 80,466,778 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604052,778,853 - 52,792,908 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbxo5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247855,247,731 - 5,260,736 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247855,248,434 - 5,260,623 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBXO5
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
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 6q24.2-25.2(chr6:144932561-152985364)x1 copy number loss See cases [RCV000052206] Chr6:144932561..152985364 [GRCh38]
Chr6:145253697..153306499 [GRCh37]
Chr6:145295390..153348192 [NCBI36]
Chr6:6q24.2-25.2
pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3
pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3
pathogenic
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 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 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
GRCh37/hg19 6q25.2(chr6:152702696-153345479)x4 copy number gain See cases [RCV000240317] Chr6:152702696..153345479 [GRCh37]
Chr6:6q25.2
uncertain significance
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 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
NC_000006.12:g.(?_152122416)_(153426916_?)del deletion Autosomal recessive ataxia, Beauce type [RCV000647733] Chr6:152122416..153426916 [GRCh38]
Chr6:152443551..153748051 [GRCh37]
Chr6:6q25.2
pathogenic
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
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(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [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 6q25.2(chr6:153285650-153330704)x3 copy number gain not provided [RCV000746115] Chr6:153285650..153330704 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q25.2(chr6:153285650-153344133)x3 copy number gain not provided [RCV000746116] Chr6:153285650..153344133 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q25.2(chr6:153290888-153337131)x3 copy number gain not provided [RCV000746117] Chr6:153290888..153337131 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q25.2(chr6:153291865-153349379)x3 copy number gain not provided [RCV000746118] Chr6:153291865..153349379 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q25.2(chr6:153291923-153333328)x3 copy number gain not provided [RCV000746119] Chr6:153291923..153333328 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q25.2(chr6:153299340-153299658)x0 copy number loss not provided [RCV000746120] Chr6:153299340..153299658 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q25.2(chr6:153299340-153299704)x0 copy number loss not provided [RCV000746121] Chr6:153299340..153299704 [GRCh37]
Chr6:6q25.2
benign
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 copy number gain not provided [RCV000846496] Chr6:148195086..160127254 [GRCh37]
Chr6:6q24.3-25.3
pathogenic
NM_012177.5(FBXO5):c.1073G>A (p.Arg358Gln) single nucleotide variant Inborn genetic diseases [RCV003292570] Chr6:152972291 [GRCh38]
Chr6:153293426 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.632G>A (p.Arg211Gln) single nucleotide variant Inborn genetic diseases [RCV003275453] Chr6:152975093 [GRCh38]
Chr6:153296228 [GRCh37]
Chr6:6q25.2
uncertain significance
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1 copy number loss not provided [RCV001005856] Chr6:149431322..154120064 [GRCh37]
Chr6:6q25.1-25.2
pathogenic
GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3 copy number gain not provided [RCV001258753] Chr6:151472860..154839846 [GRCh37]
Chr6:6q25.1-25.2
likely pathogenic
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) copy number loss not specified [RCV002053640] Chr6:153207930..164322346 [GRCh37]
Chr6:6q25.2-26
pathogenic
GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315) copy number loss not specified [RCV002053639] Chr6:153180239..156377315 [GRCh37]
Chr6:6q25.2-25.3
uncertain significance
NM_012177.5(FBXO5):c.808G>T (p.Asp270Tyr) single nucleotide variant Inborn genetic diseases [RCV002753941] Chr6:152974917 [GRCh38]
Chr6:153296052 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.412A>G (p.Thr138Ala) single nucleotide variant Inborn genetic diseases [RCV002860538] Chr6:152975313 [GRCh38]
Chr6:153296448 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.605G>C (p.Cys202Ser) single nucleotide variant Inborn genetic diseases [RCV002910575] Chr6:152975120 [GRCh38]
Chr6:153296255 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.770A>G (p.His257Arg) single nucleotide variant Inborn genetic diseases [RCV002929994] Chr6:152974955 [GRCh38]
Chr6:153296090 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.64A>G (p.Ser22Gly) single nucleotide variant Inborn genetic diseases [RCV002745136] Chr6:152982896 [GRCh38]
Chr6:153304031 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.1247C>T (p.Thr416Ile) single nucleotide variant Inborn genetic diseases [RCV002959458] Chr6:152971260 [GRCh38]
Chr6:153292395 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.296C>T (p.Pro99Leu) single nucleotide variant Inborn genetic diseases [RCV002989067] Chr6:152975429 [GRCh38]
Chr6:153296564 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.1279G>A (p.Ala427Thr) single nucleotide variant Inborn genetic diseases [RCV002677826] Chr6:152971228 [GRCh38]
Chr6:153292363 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.59G>A (p.Ser20Asn) single nucleotide variant Inborn genetic diseases [RCV003194516] Chr6:152982901 [GRCh38]
Chr6:153304036 [GRCh37]
Chr6:6q25.2
uncertain significance
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1 copy number loss Coffin-Siris syndrome 1 [RCV003327723] Chr6:150905553..158511926 [GRCh38]
Chr6:6q25.1-25.3
pathogenic
NM_012177.5(FBXO5):c.1334G>A (p.Arg445Gln) single nucleotide variant Inborn genetic diseases [RCV003354377] Chr6:152971173 [GRCh38]
Chr6:153292308 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_012177.5(FBXO5):c.1127A>G (p.Lys376Arg) single nucleotide variant Inborn genetic diseases [RCV003347315] Chr6:152971380 [GRCh38]
Chr6:153292515 [GRCh37]
Chr6:6q25.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:407
Count of miRNA genes:205
Interacting mature miRNAs:219
Transcripts:ENST00000229758, ENST00000367241, ENST00000477822
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
G59868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376153,291,819 - 153,291,952UniSTSGRCh37
Build 366153,333,512 - 153,333,645RGDNCBI36
Celera6154,025,489 - 154,025,622RGD
Cytogenetic Map6q25.2UniSTS
HuRef6150,854,608 - 150,854,741UniSTS
TNG Radiation Hybrid Map674699.0UniSTS
TNG Radiation Hybrid Map674744.0UniSTS
RH68113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376153,292,338 - 153,292,481UniSTSGRCh37
Build 366153,334,031 - 153,334,174RGDNCBI36
Celera6154,026,008 - 154,026,151RGD
Cytogenetic Map6q25.2UniSTS
HuRef6150,855,128 - 150,855,271UniSTS
GeneMap99-GB4 RH Map6605.82UniSTS
RH46915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376153,291,819 - 153,291,960UniSTSGRCh37
Build 366153,333,512 - 153,333,653RGDNCBI36
Celera6154,025,489 - 154,025,630RGD
Cytogenetic Map6q25.2UniSTS
HuRef6150,854,608 - 150,854,749UniSTS
GeneMap99-GB4 RH Map6604.11UniSTS
NCBI RH Map61611.9UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 184 16 69 36 742 40 271 59 149 68 272 292 9 7 3 3
Low 2253 2719 1649 582 1034 419 3784 1759 3513 340 1187 1318 165 1 1197 2483 3 2
Below cutoff 2 256 8 6 175 6 302 378 70 11 1 3 1 302

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF129535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI769650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY079515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG944882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI838832 (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
  DA751659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA819893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB122061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000229758   ⟹   ENSP00000229758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6152,970,535 - 152,983,041 (-)Ensembl
RefSeq Acc Id: ENST00000367241   ⟹   ENSP00000356210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6152,970,529 - 152,983,579 (-)Ensembl
RefSeq Acc Id: ENST00000477822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6152,970,519 - 152,973,985 (-)Ensembl
RefSeq Acc Id: NM_001142522   ⟹   NP_001135994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386152,970,535 - 152,983,579 (-)NCBI
GRCh376153,291,658 - 153,304,740 (-)ENTREZGENE
HuRef6150,854,447 - 150,867,531 (-)ENTREZGENE
CHM1_16153,555,576 - 153,568,660 (-)NCBI
T2T-CHM13v2.06154,171,829 - 154,184,878 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012177   ⟹   NP_036309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386152,970,535 - 152,983,041 (-)NCBI
GRCh376153,291,658 - 153,304,740 (-)ENTREZGENE
Build 366153,333,351 - 153,345,867 (-)NCBI Archive
HuRef6150,854,447 - 150,867,531 (-)ENTREZGENE
CHM1_16153,555,576 - 153,568,123 (-)NCBI
T2T-CHM13v2.06154,171,829 - 154,184,340 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001135994   ⟸   NM_001142522
- Peptide Label: isoform b
- UniProtKB: B2RB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_036309   ⟸   NM_012177
- Peptide Label: isoform a
- UniProtKB: Q8WV29 (UniProtKB/Swiss-Prot),   Q5TF47 (UniProtKB/Swiss-Prot),   B3KNX5 (UniProtKB/Swiss-Prot),   Q9UGC8 (UniProtKB/Swiss-Prot),   Q9UKT4 (UniProtKB/Swiss-Prot),   B2RB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000229758   ⟸   ENST00000229758
RefSeq Acc Id: ENSP00000356210   ⟸   ENST00000367241
Protein Domains
F-box   ZBR-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UKT4-F1-model_v2 AlphaFold Q9UKT4 1-447 view protein structure

Promoters
RGD ID:7209489
Promoter ID:EPDNEW_H10491
Type:initiation region
Name:FBXO5_1
Description:F-box protein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10492  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386152,983,039 - 152,983,099EPDNEW
RGD ID:7209491
Promoter ID:EPDNEW_H10492
Type:initiation region
Name:FBXO5_2
Description:F-box protein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10491  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386152,983,579 - 152,983,639EPDNEW
RGD ID:6804227
Promoter ID:HG_KWN:55509
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000042759
Position:
Human AssemblyChrPosition (strand)Source
Build 366153,337,316 - 153,337,816 (-)MPROMDB
RGD ID:6804238
Promoter ID:HG_KWN:55510
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:OTTHUMT00000042761,   UC003QPG.1,   UC003QPH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366153,345,206 - 153,347,122 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13584 AgrOrtholog
COSMIC FBXO5 COSMIC
Ensembl Genes ENSG00000112029 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000229758 ENTREZGENE
  ENST00000229758.8 UniProtKB/Swiss-Prot
  ENST00000367241 ENTREZGENE
  ENST00000367241.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1280.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.25.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112029 GTEx
HGNC ID HGNC:13584 ENTREZGENE
Human Proteome Map FBXO5 Human Proteome Map
InterPro F-box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBX5_43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_ZBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26271 UniProtKB/Swiss-Prot
NCBI Gene 26271 ENTREZGENE
OMIM 606013 OMIM
PANTHER F-BOX ONLY PROTEIN 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F-BOX ONLY PROTEIN 5 AND 43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam F-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28045 PharmGKB
PROSITE ZF_ZBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RB17 ENTREZGENE, UniProtKB/TrEMBL
  B3KNX5 ENTREZGENE
  FBX5_HUMAN UniProtKB/Swiss-Prot
  Q5TF47 ENTREZGENE
  Q8WV29 ENTREZGENE
  Q9UGC8 ENTREZGENE
  Q9UKT4 ENTREZGENE
UniProt Secondary B3KNX5 UniProtKB/Swiss-Prot
  Q5TF47 UniProtKB/Swiss-Prot
  Q8WV29 UniProtKB/Swiss-Prot
  Q9UGC8 UniProtKB/Swiss-Prot