FBXL6 (F-box and leucine rich repeat protein 6) - Rat Genome Database

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Gene: FBXL6 (F-box and leucine rich repeat protein 6) Homo sapiens
Analyze
Symbol: FBXL6
Name: F-box and leucine rich repeat protein 6
RGD ID: 1353759
HGNC Page HGNC:13603
Description: Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be located in cytoplasm. Predicted to be part of SCF ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: F-box and leucine-rich repeat protein 6; F-box protein Fbl6; F-box/LRR-repeat protein 6; FBL6; FBL6A; PP14630
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
GRCh388144,355,431 - 144,358,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,355,431 - 144,359,376 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,579,091 - 145,582,132 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,549,899 - 145,552,940 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,549,899 - 145,552,940NCBI
Celera8141,754,472 - 141,757,513 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,693,026 - 140,696,121 (-)NCBIHuRef
CHM1_18145,617,509 - 145,620,604 (-)NCBICHM1_1
T2T-CHM13v2.08145,524,060 - 145,527,101 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:8125298   PMID:10531035   PMID:10531037   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15520277   PMID:16341674   PMID:18426905   PMID:19159283   PMID:21873635   PMID:24104479  
PMID:26344197   PMID:26496610   PMID:27705803   PMID:28786561   PMID:28986522   PMID:29103612   PMID:29117863   PMID:30804502   PMID:31181401   PMID:31527615   PMID:31753913   PMID:32576198  
PMID:33568778   PMID:33961781   PMID:35606330   PMID:36244648   PMID:37267103  


Genomics

Comparative Map Data
FBXL6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,355,431 - 144,358,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,355,431 - 144,359,376 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,579,091 - 145,582,132 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,549,899 - 145,552,940 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,549,899 - 145,552,940NCBI
Celera8141,754,472 - 141,757,513 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,693,026 - 140,696,121 (-)NCBIHuRef
CHM1_18145,617,509 - 145,620,604 (-)NCBICHM1_1
T2T-CHM13v2.08145,524,060 - 145,527,101 (-)NCBIT2T-CHM13v2.0
Fbxl6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,419,923 - 76,422,946 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,419,921 - 76,422,946 (-)EnsemblGRCm39 Ensembl
GRCm381576,535,723 - 76,538,746 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,535,721 - 76,538,746 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,366,153 - 76,369,176 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,362,986 - 76,365,990 (-)NCBIMGSCv36mm8
Celera1578,036,168 - 78,039,192 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.04NCBI
Fbxl6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,140,243 - 110,143,176 (-)NCBIGRCr8
mRatBN7.27108,259,097 - 108,262,528 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,257,160 - 108,262,513 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,003,880 - 110,006,780 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,227,577 - 112,230,477 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,186,026 - 112,188,924 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,602,056 - 117,604,954 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,602,041 - 117,605,141 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,589,687 - 117,592,585 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,587,758 - 114,590,656 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,621,988 - 114,624,886 (-)NCBI
Celera7104,610,937 - 104,613,835 (-)NCBICelera
Cytogenetic Map7q34NCBI
Fbxl6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,976,894 - 2,979,785 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,976,812 - 2,979,835 (-)NCBIChiLan1.0ChiLan1.0
FBXL6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,842,618 - 161,845,890 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,372,511 - 137,375,654 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,119,114 - 141,122,315 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,108,369 - 144,111,073 (-)NCBIpanpan1.1PanPan1.1panPan2
FBXL6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,780,991 - 37,783,976 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,780,974 - 37,785,045 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,743,618 - 37,746,575 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,256,552 - 38,259,509 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,256,535 - 38,276,739 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,948,381 - 37,951,338 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,057,034 - 38,059,991 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,533,384 - 38,536,341 (-)NCBIUU_Cfam_GSD_1.0
Fbxl6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303462,564 - 465,697 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,888,048 - 7,893,460 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,888,676 - 7,891,796 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBXL6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4424,508 - 427,799 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14424,433 - 427,799 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24512,843 - 516,104 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBXL6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,565,041 - 138,570,403 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660391,290,311 - 1,293,506 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbxl6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,491,174 - 12,494,059 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,491,155 - 12,494,152 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBXL6
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3		 likely benign
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_012162.4(FBXL6):c.157G>A (p.Gly53Ser) single nucleotide variant not provided [RCV000596529] Chr8:144358291 [GRCh38]
Chr8:145581951 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3		 benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_012162.4(FBXL6):c.1345G>A (p.Gly449Ser) single nucleotide variant not specified [RCV004282305] Chr8:144356095 [GRCh38]
Chr8:145579755 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_144990345)_(145584675_?)dup duplication not provided [RCV001940184] Chr8:144990345..145584675 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_012162.4(FBXL6):c.1453G>A (p.Val485Ile) single nucleotide variant not specified [RCV004216426] Chr8:144355987 [GRCh38]
Chr8:145579647 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1222C>T (p.Arg408Trp) single nucleotide variant not specified [RCV004184952] Chr8:144356303 [GRCh38]
Chr8:145579963 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1553C>T (p.Ala518Val) single nucleotide variant not specified [RCV004144235] Chr8:144355598 [GRCh38]
Chr8:145579258 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1558C>T (p.Arg520Trp) single nucleotide variant not specified [RCV004221556] Chr8:144355593 [GRCh38]
Chr8:145579253 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.824G>T (p.Arg275Leu) single nucleotide variant not specified [RCV004129223] Chr8:144356863 [GRCh38]
Chr8:145580523 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1292G>A (p.Ser431Asn) single nucleotide variant not specified [RCV004220246] Chr8:144356148 [GRCh38]
Chr8:145579808 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1613C>G (p.Pro538Arg) single nucleotide variant not specified [RCV004122574] Chr8:144355538 [GRCh38]
Chr8:145579198 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1396A>G (p.Ser466Gly) single nucleotide variant not specified [RCV004227362] Chr8:144356044 [GRCh38]
Chr8:145579704 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012162.4(FBXL6):c.40C>T (p.Arg14Trp) single nucleotide variant not specified [RCV004181448] Chr8:144358408 [GRCh38]
Chr8:145582068 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.952C>G (p.Leu318Val) single nucleotide variant not specified [RCV004132174] Chr8:144356641 [GRCh38]
Chr8:145580301 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.193C>T (p.Arg65Cys) single nucleotide variant not specified [RCV004243709] Chr8:144358255 [GRCh38]
Chr8:145581915 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.308C>T (p.Pro103Leu) single nucleotide variant not specified [RCV004203314] Chr8:144358140 [GRCh38]
Chr8:145581800 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1034C>T (p.Pro345Leu) single nucleotide variant not specified [RCV004209288] Chr8:144356491 [GRCh38]
Chr8:145580151 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012162.4(FBXL6):c.1267C>T (p.Arg423Trp) single nucleotide variant not specified [RCV004200540] Chr8:144356173 [GRCh38]
Chr8:145579833 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1184C>T (p.Ala395Val) single nucleotide variant not specified [RCV004145964] Chr8:144356341 [GRCh38]
Chr8:145580001 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1259C>T (p.Thr420Met) single nucleotide variant not specified [RCV004190912] Chr8:144356181 [GRCh38]
Chr8:145579841 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012162.4(FBXL6):c.277C>T (p.Pro93Ser) single nucleotide variant not specified [RCV004237413] Chr8:144358171 [GRCh38]
Chr8:145581831 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.610T>C (p.Trp204Arg) single nucleotide variant not specified [RCV004176749] Chr8:144357468 [GRCh38]
Chr8:145581128 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1001G>A (p.Arg334Gln) single nucleotide variant not specified [RCV004243803] Chr8:144356524 [GRCh38]
Chr8:145580184 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1186C>T (p.Arg396Cys) single nucleotide variant not specified [RCV004086224] Chr8:144356339 [GRCh38]
Chr8:145579999 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.110A>G (p.Tyr37Cys) single nucleotide variant not specified [RCV004105885] Chr8:144358338 [GRCh38]
Chr8:145581998 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.818G>A (p.Arg273Gln) single nucleotide variant not specified [RCV004235171] Chr8:144356869 [GRCh38]
Chr8:145580529 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1343G>A (p.Ser448Asn) single nucleotide variant not specified [RCV004134690] Chr8:144356097 [GRCh38]
Chr8:145579757 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1450C>T (p.Arg484Trp) single nucleotide variant not specified [RCV004118496] Chr8:144355990 [GRCh38]
Chr8:145579650 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.250G>A (p.Gly84Arg) single nucleotide variant not specified [RCV004173440] Chr8:144358198 [GRCh38]
Chr8:145581858 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012162.4(FBXL6):c.1034C>A (p.Pro345Gln) single nucleotide variant not specified [RCV004206118] Chr8:144356491 [GRCh38]
Chr8:145580151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1235A>G (p.Gln412Arg) single nucleotide variant not specified [RCV004073923] Chr8:144356205 [GRCh38]
Chr8:145579865 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1556A>G (p.Tyr519Cys) single nucleotide variant not specified [RCV004089851] Chr8:144355595 [GRCh38]
Chr8:145579255 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.361G>A (p.Val121Met) single nucleotide variant not specified [RCV004327763] Chr8:144358087 [GRCh38]
Chr8:145581747 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.284C>A (p.Pro95His) single nucleotide variant not specified [RCV004321475] Chr8:144358164 [GRCh38]
Chr8:145581824 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.922G>A (p.Gly308Ser) single nucleotide variant not specified [RCV004313008] Chr8:144356671 [GRCh38]
Chr8:145580331 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1287G>C (p.Glu429Asp) single nucleotide variant not specified [RCV004323344] Chr8:144356153 [GRCh38]
Chr8:145579813 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.25G>A (p.Val9Ile) single nucleotide variant not specified [RCV004354508] Chr8:144358423 [GRCh38]
Chr8:145582083 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1451G>A (p.Arg484Gln) single nucleotide variant not specified [RCV004334502] Chr8:144355989 [GRCh38]
Chr8:145579649 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1175G>A (p.Arg392His) single nucleotide variant not specified [RCV004352266] Chr8:144356350 [GRCh38]
Chr8:145580010 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1516G>A (p.Glu506Lys) single nucleotide variant not specified [RCV004342747] Chr8:144355635 [GRCh38]
Chr8:145579295 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.753G>A (p.Leu251=) single nucleotide variant not provided [RCV003435652] Chr8:144357008 [GRCh38]
Chr8:145580668 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012162.4(FBXL6):c.662G>T (p.Arg221Leu) single nucleotide variant not provided [RCV003423996] Chr8:144357099 [GRCh38]
Chr8:145580759 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_012162.4(FBXL6):c.239A>C (p.Lys80Thr) single nucleotide variant not specified [RCV004378926] Chr8:144358209 [GRCh38]
Chr8:145581869 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.464C>T (p.Ala155Val) single nucleotide variant not specified [RCV004378929] Chr8:144357739 [GRCh38]
Chr8:145581399 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.628C>T (p.Pro210Ser) single nucleotide variant not specified [RCV004378932] Chr8:144357450 [GRCh38]
Chr8:145581110 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.203C>T (p.Pro68Leu) single nucleotide variant not specified [RCV004378925] Chr8:144358245 [GRCh38]
Chr8:145581905 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.298A>G (p.Thr100Ala) single nucleotide variant not specified [RCV004378927] Chr8:144358150 [GRCh38]
Chr8:145581810 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.694G>A (p.Gly232Ser) single nucleotide variant not specified [RCV004378933] Chr8:144357067 [GRCh38]
Chr8:145580727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.824G>A (p.Arg275His) single nucleotide variant not specified [RCV004378935] Chr8:144356863 [GRCh38]
Chr8:145580523 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1505A>G (p.Tyr502Cys) single nucleotide variant not specified [RCV004378923] Chr8:144355646 [GRCh38]
Chr8:145579306 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.718A>G (p.Met240Val) single nucleotide variant not specified [RCV004378934] Chr8:144357043 [GRCh38]
Chr8:145580703 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1499T>G (p.Leu500Arg) single nucleotide variant not specified [RCV004378922] Chr8:144355652 [GRCh38]
Chr8:145579312 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.166C>T (p.Arg56Trp) single nucleotide variant not specified [RCV004378924] Chr8:144358282 [GRCh38]
Chr8:145581942 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.389C>T (p.Ala130Val) single nucleotide variant not specified [RCV004378928] Chr8:144358059 [GRCh38]
Chr8:145581719 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.521G>C (p.Gly174Ala) single nucleotide variant not specified [RCV004378930] Chr8:144357682 [GRCh38]
Chr8:145581342 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012162.4(FBXL6):c.1000C>T (p.Arg334Trp) single nucleotide variant not specified [RCV004378920] Chr8:144356525 [GRCh38]
Chr8:145580185 [GRCh37]
Chr8:8q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2849
Count of miRNA genes:849
Interacting mature miRNAs:1030
Transcripts:ENST00000331890, ENST00000455319, ENST00000524492, ENST00000524909, ENST00000526524, ENST00000527000, ENST00000529279, ENST00000530142, ENST00000530687
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
RH15614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,579,132 - 145,579,317UniSTSGRCh37
Build 368145,549,940 - 145,550,125RGDNCBI36
Celera8141,754,513 - 141,754,698RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,693,070 - 140,693,255UniSTS
PMC164520P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,582,875 - 145,583,855UniSTSGRCh37
Build 368145,553,683 - 145,554,663RGDNCBI36
Celera8141,758,256 - 141,759,236RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,696,813 - 140,697,793UniSTS


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 2391 1669 1573 516 1395 360 3620 1105 2369 203 1404 1530 170 1146 2083 2 1
Low 48 1322 153 108 554 105 737 1092 1365 216 55 83 5 1 58 705 4 1
Below cutoff 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000331890   ⟹   ENSP00000330098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,355,431 - 144,358,472 (-)Ensembl
RefSeq Acc Id: ENST00000455319   ⟹   ENSP00000403873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,355,431 - 144,358,472 (-)Ensembl
RefSeq Acc Id: ENST00000524492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,355,431 - 144,357,973 (-)Ensembl
RefSeq Acc Id: ENST00000524909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,356,136 - 144,356,854 (-)Ensembl
RefSeq Acc Id: ENST00000526524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,355,515 - 144,357,068 (-)Ensembl
RefSeq Acc Id: ENST00000527000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,356,088 - 144,356,870 (-)Ensembl
RefSeq Acc Id: ENST00000529279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,356,950 - 144,357,926 (-)Ensembl
RefSeq Acc Id: ENST00000530142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,355,431 - 144,359,376 (-)Ensembl
RefSeq Acc Id: ENST00000530687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,357,430 - 144,358,180 (-)Ensembl
RefSeq Acc Id: NM_012162   ⟹   NP_036294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,355,431 - 144,358,472 (-)NCBI
GRCh378145,579,088 - 145,582,183 (-)NCBI
Build 368145,549,899 - 145,552,940 (-)NCBI Archive
Celera8141,754,472 - 141,757,513 (-)RGD
HuRef8140,693,026 - 140,696,121 (-)NCBI
CHM1_18145,617,509 - 145,620,604 (-)NCBI
T2T-CHM13v2.08145,524,060 - 145,527,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024555   ⟹   NP_078831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,355,431 - 144,358,472 (-)NCBI
GRCh378145,579,088 - 145,582,183 (-)NCBI
Build 368145,549,899 - 145,552,940 (-)NCBI Archive
Celera8141,754,472 - 141,757,513 (-)RGD
HuRef8140,693,026 - 140,696,121 (-)NCBI
CHM1_18145,617,509 - 145,620,604 (-)NCBI
T2T-CHM13v2.08145,524,060 - 145,527,101 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_036294   ⟸   NM_012162
- Peptide Label: isoform 1
- UniProtKB: Q9H5W9 (UniProtKB/Swiss-Prot),   Q53G43 (UniProtKB/Swiss-Prot),   Q9UKC7 (UniProtKB/Swiss-Prot),   Q8N531 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_078831   ⟸   NM_024555
- Peptide Label: isoform 2
- UniProtKB: Q8N531 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000330098   ⟸   ENST00000331890
RefSeq Acc Id: ENSP00000403873   ⟸   ENST00000455319
Protein Domains
F-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N531-F1-model_v2 AlphaFold Q8N531 1-539 view protein structure

Promoters
RGD ID:7214457
Promoter ID:EPDNEW_H12975
Type:initiation region
Name:FBXL6_1
Description:F-box and leucine rich repeat protein 6
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
GRCh388144,358,472 - 144,358,532EPDNEW
RGD ID:6806804
Promoter ID:HG_KWN:62334
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012162,   NM_024531,   NM_024555,   UC003ZBZ.1,   UC003ZCC.1,   UC003ZCE.1,   UC003ZCF.1,   UC010MFY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,551,801 - 145,553,237 (+)MPROMDB
RGD ID:6806757
Promoter ID:HG_KWN:62335
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010MFX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,553,866 - 145,554,366 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13603 AgrOrtholog
COSMIC FBXL6 COSMIC
Ensembl Genes ENSG00000182325 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285442 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000331890 ENTREZGENE
  ENST00000331890.6 UniProtKB/Swiss-Prot
  ENST00000455319 ENTREZGENE
  ENST00000455319.6 UniProtKB/Swiss-Prot
  ENST00000644788.2 UniProtKB/Swiss-Prot
  ENST00000646393.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1280.50 UniProtKB/Swiss-Prot
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182325 GTEx
  ENSG00000285442 GTEx
HGNC ID HGNC:13603 ENTREZGENE
Human Proteome Map FBXL6 Human Proteome Map
InterPro F-box-like_dom_sf UniProtKB/Swiss-Prot
  F-box_dom UniProtKB/Swiss-Prot
  FBXL6_F-box UniProtKB/Swiss-Prot
  Leu-rich_rpt_Cys-con_subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26233 UniProtKB/Swiss-Prot
NCBI Gene 26233 ENTREZGENE
OMIM 609076 OMIM
PANTHER MITOCHONDRIAL ATP SYNTHASE COUPLING FACTOR B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCF E3 UBIQUITIN LIGASE COMPLEX F-BOX PROTEIN GRR1 UniProtKB/Swiss-Prot
Pfam F-box-like UniProtKB/Swiss-Prot
PharmGKB PA28026 PharmGKB
SMART LRR_CC UniProtKB/Swiss-Prot
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81383 UniProtKB/Swiss-Prot
UniProt FBXL6_HUMAN UniProtKB/Swiss-Prot
  Q53G43 ENTREZGENE
  Q71RB6_HUMAN UniProtKB/TrEMBL
  Q8N531 ENTREZGENE
  Q9H5W9 ENTREZGENE
  Q9UKC7 ENTREZGENE
UniProt Secondary Q53G43 UniProtKB/Swiss-Prot
  Q9H5W9 UniProtKB/Swiss-Prot
  Q9UKC7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 FBXL6  F-box and leucine rich repeat protein 6  FBXL6  F-box and leucine-rich repeat protein 6  Symbol and/or name change 5135510 APPROVED