FBXO41 (F-box protein 41) - Rat Genome Database

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Gene: FBXO41 (F-box protein 41) Homo sapiens
Analyze
Symbol: FBXO41
Name: F-box protein 41
RGD ID: 1351223
HGNC Page HGNC:29409
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: F-box only protein 41; Fbx41; FLJ37709
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38273,254,690 - 73,284,478 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl273,254,682 - 73,284,478 (-)EnsemblGRCh38hg38GRCh38
GRCh37273,481,818 - 73,511,606 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,335,308 - 73,351,551 (-)NCBINCBI36Build 36hg18NCBI36
Build 34273,394,603 - 73,408,251NCBI
Celera273,332,638 - 73,347,586 (-)NCBICelera
Cytogenetic Map2p13.2NCBI
HuRef273,217,469 - 73,232,417 (-)NCBIHuRef
CHM1_1273,412,617 - 73,427,565 (-)NCBICHM1_1
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)
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:11853319   PMID:12477932   PMID:14702039   PMID:15070733   PMID:15520277   PMID:15815621   PMID:17043677   PMID:19028597   PMID:23777664   PMID:26063905   PMID:35278439   PMID:35559673  
PMID:35598880  


Genomics

Comparative Map Data
FBXO41
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38273,254,690 - 73,284,478 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl273,254,682 - 73,284,478 (-)EnsemblGRCh38hg38GRCh38
GRCh37273,481,818 - 73,511,606 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,335,308 - 73,351,551 (-)NCBINCBI36Build 36hg18NCBI36
Build 34273,394,603 - 73,408,251NCBI
Celera273,332,638 - 73,347,586 (-)NCBICelera
Cytogenetic Map2p13.2NCBI
HuRef273,217,469 - 73,232,417 (-)NCBIHuRef
CHM1_1273,412,617 - 73,427,565 (-)NCBICHM1_1
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBIT2T-CHM13v2.0
Fbxo41
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39685,446,556 - 85,479,976 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl685,446,556 - 85,479,976 (-)EnsemblGRCm39 Ensembl
GRCm38685,469,574 - 85,502,994 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl685,469,574 - 85,502,994 (-)EnsemblGRCm38mm10GRCm38
MGSCv37685,419,572 - 85,452,880 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36685,436,185 - 85,468,652 (-)NCBIMGSCv36mm8
Celera687,441,520 - 87,474,821 (-)NCBICelera
Cytogenetic Map6C3NCBI
cM Map637.48NCBI
Fbxo41
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84119,565,012 - 119,597,042 (-)NCBIGRCr8
mRatBN7.24118,007,517 - 118,039,547 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4118,010,978 - 118,039,406 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4123,488,884 - 123,520,959 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04119,263,989 - 119,296,066 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04117,877,462 - 117,909,525 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04117,255,143 - 117,285,228 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4117,256,770 - 117,268,178 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04181,832,758 - 181,861,649 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44119,725,853 - 119,740,162 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4106,991,380 - 107,020,972 (-)NCBICelera
Cytogenetic Map4q34NCBI
Fbxo41
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542412,349,326 - 12,378,116 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542412,339,588 - 12,378,116 (+)NCBIChiLan1.0ChiLan1.0
FBXO41
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21253,096,279 - 53,126,046 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A53,099,029 - 53,128,796 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A73,307,478 - 73,337,242 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A74,796,196 - 74,810,790 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A74,800,490 - 74,811,075 (-)Ensemblpanpan1.1panPan2
FBXO41
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11749,585,511 - 49,613,406 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1749,599,488 - 49,609,166 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1749,246,224 - 49,260,015 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01750,465,524 - 50,479,315 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1750,465,539 - 50,479,301 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11749,481,830 - 49,495,621 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01749,548,501 - 49,562,291 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01750,107,680 - 50,121,471 (+)NCBIUU_Cfam_GSD_1.0
Fbxo41
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629211,500,082 - 11,535,289 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649117,034,169 - 17,061,752 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649117,035,988 - 17,048,165 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBXO41
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl369,496,651 - 69,525,845 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1369,496,527 - 69,525,854 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2372,699,383 - 72,729,279 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBXO41
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11433,904,062 - 33,919,470 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1433,904,087 - 33,915,134 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604578,163,287 - 78,194,120 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbxo41
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624762372,856 - 384,481 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624762360,168 - 386,642 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBXO41
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2		 pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
NM_001371389.2(FBXO41):c.1390C>T (p.Arg464Cys) single nucleotide variant not specified [RCV001001918] Chr2:73265456 [GRCh38]
Chr2:73492584 [GRCh37]
Chr2:2p13.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)x1 copy number loss See cases [RCV000448067] Chr2:73477212..74065941 [GRCh37]
Chr2:2p13.2-13.1		 uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NM_001371389.2(FBXO41):c.1444G>A (p.Glu482Lys) single nucleotide variant not provided [RCV000660571] Chr2:73265402 [GRCh38]
Chr2:73492530 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1622G>A (p.Arg541His) single nucleotide variant not provided [RCV000660572] Chr2:73264462 [GRCh38]
Chr2:73491590 [GRCh37]
Chr2:2p13.2		 uncertain significance
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001371389.2(FBXO41):c.1564+9C>T single nucleotide variant not provided [RCV000948596] Chr2:73265273 [GRCh38]
Chr2:73492401 [GRCh37]
Chr2:2p13.2		 benign
NM_001371389.2(FBXO41):c.467A>G (p.Glu156Gly) single nucleotide variant Inborn genetic diseases [RCV003247512] Chr2:73269164 [GRCh38]
Chr2:73496292 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1681T>C (p.Phe561Leu) single nucleotide variant Inborn genetic diseases [RCV003250292] Chr2:73264403 [GRCh38]
Chr2:73491531 [GRCh37]
Chr2:2p13.2		 uncertain significance
NC_000002.11:g.(?_71004499)_(74779761_?)del deletion Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] Chr2:71004499..74779761 [GRCh37]
Chr2:2p13.3-13.1		 pathogenic|no classifications from unflagged records
NC_000002.11:g.(?_73114549)_(73836749_?)dup duplication Alstrom syndrome [RCV001365067] Chr2:73114549..73836749 [GRCh37]
Chr2:2p13.2-13.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941) copy number loss not specified [RCV002053150] Chr2:73477212..74065941 [GRCh37]
Chr2:2p13.2-13.1		 uncertain significance
NC_000002.11:g.(?_72359356)_(74779761_?)del deletion MOGS-congenital disorder of glycosylation [RCV003109485]|not provided [RCV003116543] Chr2:72359356..74779761 [GRCh37]
Chr2:2p13.2-13.1		 pathogenic|no classifications from unflagged records
NC_000002.11:g.(?_69240632)_(74779761_?)dup duplication not provided [RCV003122858] Chr2:69240632..74779761 [GRCh37]
Chr2:2p13.3-13.1		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001371389.2(FBXO41):c.1621C>T (p.Arg541Cys) single nucleotide variant Inborn genetic diseases [RCV002683523] Chr2:73264463 [GRCh38]
Chr2:73491591 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.959G>A (p.Ser320Asn) single nucleotide variant Inborn genetic diseases [RCV002728195] Chr2:73266629 [GRCh38]
Chr2:73493757 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1738C>T (p.Arg580Cys) single nucleotide variant Inborn genetic diseases [RCV002754331] Chr2:73264346 [GRCh38]
Chr2:73491474 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1774G>T (p.Val592Leu) single nucleotide variant Inborn genetic diseases [RCV002682661] Chr2:73264310 [GRCh38]
Chr2:73491438 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1388G>A (p.Arg463Gln) single nucleotide variant Inborn genetic diseases [RCV002974346] Chr2:73265458 [GRCh38]
Chr2:73492586 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1052G>A (p.Gly351Asp) single nucleotide variant Inborn genetic diseases [RCV002696356] Chr2:73266536 [GRCh38]
Chr2:73493664 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2372G>A (p.Arg791Gln) single nucleotide variant Inborn genetic diseases [RCV002758616] Chr2:73260466 [GRCh38]
Chr2:73487594 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2620G>A (p.Gly874Ser) single nucleotide variant Inborn genetic diseases [RCV002951310] Chr2:73258990 [GRCh38]
Chr2:73486118 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1739G>A (p.Arg580His) single nucleotide variant Inborn genetic diseases [RCV002998070] Chr2:73264345 [GRCh38]
Chr2:73491473 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1595G>A (p.Arg532Gln) single nucleotide variant Inborn genetic diseases [RCV002826275] Chr2:73264489 [GRCh38]
Chr2:73491617 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1655A>G (p.Lys552Arg) single nucleotide variant Inborn genetic diseases [RCV002916131] Chr2:73264429 [GRCh38]
Chr2:73491557 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.643G>A (p.Val215Met) single nucleotide variant Inborn genetic diseases [RCV002744104] Chr2:73268988 [GRCh38]
Chr2:73496116 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1423C>T (p.Arg475Cys) single nucleotide variant Inborn genetic diseases [RCV002965354] Chr2:73265423 [GRCh38]
Chr2:73492551 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2198G>A (p.Arg733His) single nucleotide variant Inborn genetic diseases [RCV002668480] Chr2:73260832 [GRCh38]
Chr2:73487960 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2417C>T (p.Pro806Leu) single nucleotide variant Inborn genetic diseases [RCV002747228] Chr2:73260421 [GRCh38]
Chr2:73487549 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2017G>A (p.Asp673Asn) single nucleotide variant Inborn genetic diseases [RCV002878378] Chr2:73263736 [GRCh38]
Chr2:73490864 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1466T>C (p.Val489Ala) single nucleotide variant Inborn genetic diseases [RCV002878434] Chr2:73265380 [GRCh38]
Chr2:73492508 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1114C>T (p.Arg372Trp) single nucleotide variant Inborn genetic diseases [RCV002648483] Chr2:73266474 [GRCh38]
Chr2:73493602 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1103G>A (p.Gly368Glu) single nucleotide variant Inborn genetic diseases [RCV002854798] Chr2:73266485 [GRCh38]
Chr2:73493613 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1516C>T (p.Arg506Cys) single nucleotide variant Inborn genetic diseases [RCV002808092] Chr2:73265330 [GRCh38]
Chr2:73492458 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.971G>A (p.Arg324Gln) single nucleotide variant Inborn genetic diseases [RCV002897463] Chr2:73266617 [GRCh38]
Chr2:73493745 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2372G>T (p.Arg791Leu) single nucleotide variant Inborn genetic diseases [RCV002808327] Chr2:73260466 [GRCh38]
Chr2:73487594 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.335A>G (p.His112Arg) single nucleotide variant Inborn genetic diseases [RCV002812970] Chr2:73269296 [GRCh38]
Chr2:73496424 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1414C>T (p.Arg472Cys) single nucleotide variant Inborn genetic diseases [RCV002724781] Chr2:73265432 [GRCh38]
Chr2:73492560 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.205G>A (p.Glu69Lys) single nucleotide variant Inborn genetic diseases [RCV003221050] Chr2:73269426 [GRCh38]
Chr2:73496554 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2419G>A (p.Val807Ile) single nucleotide variant Inborn genetic diseases [RCV003176092] Chr2:73260419 [GRCh38]
Chr2:73487547 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2197C>T (p.Arg733Cys) single nucleotide variant Inborn genetic diseases [RCV003197505] Chr2:73260833 [GRCh38]
Chr2:73487961 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.1228G>A (p.Ala410Thr) single nucleotide variant Inborn genetic diseases [RCV003183967] Chr2:73265618 [GRCh38]
Chr2:73492746 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.355C>T (p.Pro119Ser) single nucleotide variant Inborn genetic diseases [RCV003370602] Chr2:73269276 [GRCh38]
Chr2:73496404 [GRCh37]
Chr2:2p13.2		 uncertain significance
NM_001371389.2(FBXO41):c.2585G>C (p.Gly862Ala) single nucleotide variant Inborn genetic diseases [RCV003376178] Chr2:73259025 [GRCh38]
Chr2:73486153 [GRCh37]
Chr2:2p13.2		 uncertain significance
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 copy number loss not specified [RCV003986388] Chr2:71076472..76368354 [GRCh37]
Chr2:2p13.3-12		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6318
Count of miRNA genes:1118
Interacting mature miRNAs:1429
Transcripts:ENST00000295133, ENST00000519873, ENST00000520186, ENST00000520530, ENST00000521871
Prediction methods:Microtar, 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
G20653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,481,885 - 73,482,038UniSTSGRCh37
Build 36273,335,393 - 73,335,546RGDNCBI36
Celera273,332,713 - 73,332,866RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,217,544 - 73,217,697UniSTS
A006A27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,481,885 - 73,482,038UniSTSGRCh37
Build 36273,335,393 - 73,335,546RGDNCBI36
Celera273,332,713 - 73,332,866RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,217,544 - 73,217,697UniSTS
GeneMap99-GB4 RH Map2224.2UniSTS
RH91757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,481,866 - 73,482,032UniSTSGRCh37
Build 36273,335,374 - 73,335,540RGDNCBI36
Celera273,332,694 - 73,332,860RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,217,525 - 73,217,691UniSTS
GeneMap99-GB4 RH Map2229.04UniSTS
G59894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,483,172 - 73,483,336UniSTSGRCh37
Build 36273,336,680 - 73,336,844RGDNCBI36
Celera273,334,000 - 73,334,164RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,218,831 - 73,218,995UniSTS
TNG Radiation Hybrid Map245775.0UniSTS
D2S1707E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,483,173 - 73,483,383UniSTSGRCh37
Build 36273,336,681 - 73,336,891RGDNCBI36
Celera273,334,001 - 73,334,211RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,218,832 - 73,219,042UniSTS
WIAF-2130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,483,156 - 73,483,346UniSTSGRCh37
Build 36273,336,664 - 73,336,854RGDNCBI36
Celera273,333,984 - 73,334,174RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,218,815 - 73,219,005UniSTS
GeneMap99-GB4 RH Map2223.14UniSTS
WI-12451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,481,820 - 73,481,950UniSTSGRCh37
Build 36273,335,328 - 73,335,458RGDNCBI36
Celera273,332,648 - 73,332,778RGD
Cytogenetic Map2p13.2UniSTS
HuRef273,217,479 - 73,217,609UniSTS
GeneMap99-GB4 RH Map2231.98UniSTS
Whitehead-RH Map2322.1UniSTS


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
High
Medium 174 5 306 14 986 16 148 38 2472 26 142 177 4
Low 2251 2211 1128 327 915 168 3144 995 1245 290 1300 1413 166 1186 1739 2
Below cutoff 6 768 287 277 48 276 1062 1158 16 101 5 17 2 1 18 1048 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R45456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295133   ⟹   ENSP00000295133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,254,682 - 73,269,630 (-)Ensembl
RefSeq Acc Id: ENST00000519873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,265,483 - 73,266,804 (-)Ensembl
RefSeq Acc Id: ENST00000520186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,271,197 - 73,284,431 (-)Ensembl
RefSeq Acc Id: ENST00000520530   ⟹   ENSP00000430968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,254,690 - 73,284,478 (-)Ensembl
RefSeq Acc Id: ENST00000521871   ⟹   ENSP00000428646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,254,690 - 73,284,431 (-)Ensembl
RefSeq Acc Id: NM_001080410   ⟹   NP_001073879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,284,478 (-)NCBI
GRCh37273,481,810 - 73,496,758 (-)RGD
Build 36273,335,308 - 73,351,551 (-)NCBI Archive
Celera273,332,638 - 73,347,586 (-)RGD
HuRef273,217,469 - 73,232,417 (-)RGD
CHM1_1273,412,617 - 73,427,565 (-)NCBI
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371389   ⟹   NP_001358318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,284,478 (-)NCBI
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264158   ⟹   XP_005264215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,266,676 (-)NCBI
GRCh37273,481,810 - 73,496,758 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532563   ⟹   XP_011530865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,266,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443458   ⟹   XP_047299414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,284,478 (-)NCBI
RefSeq Acc Id: XM_047443459   ⟹   XP_047299415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,284,478 (-)NCBI
RefSeq Acc Id: XM_047443460   ⟹   XP_047299416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,254,690 - 73,284,478 (-)NCBI
RefSeq Acc Id: XM_054340685   ⟹   XP_054196660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBI
RefSeq Acc Id: XM_054340686   ⟹   XP_054196661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBI
RefSeq Acc Id: XM_054340687   ⟹   XP_054196662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBI
RefSeq Acc Id: XM_054340688   ⟹   XP_054196663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0273,267,681 - 73,297,476 (-)NCBI
RefSeq Acc Id: XM_054340689   ⟹   XP_054196664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0273,267,681 - 73,279,560 (-)NCBI
RefSeq Acc Id: XM_054340690   ⟹   XP_054196665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0273,267,681 - 73,279,673 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001073879   ⟸   NM_001080410
- UniProtKB: G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot),   Q8TF61 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264215   ⟸   XM_005264158
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011530865   ⟸   XM_011532563
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001358318   ⟸   NM_001371389
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000295133   ⟸   ENST00000295133
RefSeq Acc Id: ENSP00000430968   ⟸   ENST00000520530
RefSeq Acc Id: ENSP00000428646   ⟸   ENST00000521871
RefSeq Acc Id: XP_047299414   ⟸   XM_047443458
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047299415   ⟸   XM_047443459
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047299416   ⟸   XM_047443460
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196660   ⟸   XM_054340685
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196661   ⟸   XM_054340686
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196662   ⟸   XM_054340687
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196663   ⟸   XM_054340688
- Peptide Label: isoform X1
- UniProtKB: Q8TF61 (UniProtKB/Swiss-Prot),   G3V0Z7 (UniProtKB/Swiss-Prot),   Q2M1V8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196665   ⟸   XM_054340690
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196664   ⟸   XM_054340689
- Peptide Label: isoform X2
Protein Domains
F-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TF61-F1-model_v2 AlphaFold Q8TF61 1-875 view protein structure

Promoters
RGD ID:6860686
Promoter ID:EPDNEW_H3508
Type:initiation region
Name:FBXO41_1
Description:F-box protein 41
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,269,632 - 73,269,692EPDNEW
RGD ID:6815352
Promoter ID:HG_MRA:8806
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:AK055121,   CR936834
Position:
Human AssemblyChrPosition (strand)Source
Build 36273,335,591 - 73,339,612 (-)MPROMDB
RGD ID:6797483
Promoter ID:HG_KWN:33253
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001080410
Position:
Human AssemblyChrPosition (strand)Source
Build 36273,349,789 - 73,350,289 (-)MPROMDB
RGD ID:6797482
Promoter ID:HG_KWN:33254
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000295133
Position:
Human AssemblyChrPosition (strand)Source
Build 36273,351,226 - 73,351,726 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29409 AgrOrtholog
COSMIC FBXO41 COSMIC
Ensembl Genes ENSG00000163013 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295133.9 UniProtKB/Swiss-Prot
  ENST00000520530 ENTREZGENE
  ENST00000520530.3 UniProtKB/Swiss-Prot
  ENST00000521871.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1280.50 UniProtKB/Swiss-Prot
  3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000163013 GTEx
HGNC ID HGNC:29409 ENTREZGENE
Human Proteome Map FBXO41 Human Proteome Map
InterPro F-box-like_dom_sf UniProtKB/Swiss-Prot
  F-box_dom UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:150726 UniProtKB/Swiss-Prot
NCBI Gene 150726 ENTREZGENE
OMIM 609108 OMIM
PANTHER F-BOX ONLY PROTEIN 41 UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN UniProtKB/Swiss-Prot
Pfam F-box-like UniProtKB/Swiss-Prot
PharmGKB PA134946052 PharmGKB
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot
  SSF81383 UniProtKB/Swiss-Prot
UniProt FBX41_HUMAN UniProtKB/Swiss-Prot
  G3V0Z7 ENTREZGENE
  Q2M1V8 ENTREZGENE
  Q8TF61 ENTREZGENE
UniProt Secondary G3V0Z7 UniProtKB/Swiss-Prot
  Q2M1V8 UniProtKB/Swiss-Prot