FBXW9 (F-box and WD repeat domain containing 9) - Rat Genome Database

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Gene: FBXW9 (F-box and WD repeat domain containing 9) Homo sapiens
Analyze
Symbol: FBXW9
Name: F-box and WD repeat domain containing 9
RGD ID: 1315938
HGNC Page HGNC:28136
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: F-box and WD-40 domain protein 9; F-box and WD-40 domain-containing protein 9; F-box and WD-40 repeat containing protein 9; F-box/WD repeat-containing protein 9; Fbw9; MEC-15; MGC10870; specificity factor for SCF ubiquitin ligase
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
GRCh381912,688,916 - 12,696,631 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,688,053 - 12,696,631 (-)EnsemblGRCh38hg38GRCh38
GRCh371912,799,730 - 12,807,445 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,660,730 - 12,668,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341912,660,730 - 12,668,432NCBI
Celera1912,689,444 - 12,697,169 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,372,724 - 12,380,434 (-)NCBIHuRef
CHM1_11912,800,253 - 12,807,962 (-)NCBICHM1_1
T2T-CHM13v2.01912,813,416 - 12,821,121 (-)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)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:15489334   PMID:15520277   PMID:16344560   PMID:19028597   PMID:19159283   PMID:19615732   PMID:21145461   PMID:21832049   PMID:21873635   PMID:23527112   PMID:26496610   PMID:27705803  
PMID:29103612   PMID:30596474   PMID:33504946   PMID:33961781   PMID:35256949   PMID:35671810   PMID:36982338  


Genomics

Comparative Map Data
FBXW9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,688,916 - 12,696,631 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,688,053 - 12,696,631 (-)EnsemblGRCh38hg38GRCh38
GRCh371912,799,730 - 12,807,445 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,660,730 - 12,668,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341912,660,730 - 12,668,432NCBI
Celera1912,689,444 - 12,697,169 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,372,724 - 12,380,434 (-)NCBIHuRef
CHM1_11912,800,253 - 12,807,962 (-)NCBICHM1_1
T2T-CHM13v2.01912,813,416 - 12,821,121 (-)NCBIT2T-CHM13v2.0
Fbxw9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,786,748 - 85,793,750 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl885,786,684 - 85,793,753 (+)EnsemblGRCm39 Ensembl
GRCm38885,060,119 - 85,067,121 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl885,060,055 - 85,067,124 (+)EnsemblGRCm38mm10GRCm38
MGSCv37887,584,018 - 87,591,020 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36887,950,634 - 87,957,222 (+)NCBIMGSCv36mm8
Celera889,354,869 - 89,361,739 (+)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.54NCBI
Fbxw9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81939,995,408 - 40,002,312 (-)NCBIGRCr8
mRatBN7.21923,090,534 - 23,097,439 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1923,090,534 - 23,097,439 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1929,913,141 - 29,920,057 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01930,567,505 - 30,574,421 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01932,790,190 - 32,797,106 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01926,173,771 - 26,180,675 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1926,173,771 - 26,180,675 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01937,149,394 - 37,156,298 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,746,820 - 24,753,726 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11924,751,649 - 24,758,479 (-)NCBI
Celera1922,648,501 - 22,655,405 (-)NCBICelera
Cytogenetic Map19q11NCBI
Fbxw9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,787,002 - 31,794,174 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,788,115 - 31,794,174 (-)NCBIChiLan1.0ChiLan1.0
FBXW9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22017,617,873 - 17,626,538 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11916,618,431 - 16,627,104 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01912,250,790 - 12,259,199 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11912,996,061 - 13,003,564 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1912,996,061 - 13,003,564 (-)Ensemblpanpan1.1panPan2
FBXW9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,425,423 - 49,430,673 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,425,534 - 49,430,667 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,299,037 - 49,304,250 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02049,943,914 - 49,949,125 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2049,943,957 - 49,949,132 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12049,154,949 - 49,160,159 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02049,581,463 - 49,586,674 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02049,823,984 - 49,829,194 (+)NCBIUU_Cfam_GSD_1.0
Fbxw9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,531,285 - 208,544,435 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366591,817,434 - 1,823,401 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366591,817,379 - 1,823,421 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBXW9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,291,172 - 66,297,213 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,290,847 - 66,297,215 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,670,074 - 66,676,406 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBXW9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,376,476 - 11,384,600 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl611,374,898 - 11,384,361 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660748,412,344 - 8,420,548 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbxw9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624901326,428 - 334,035 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624901326,657 - 333,203 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBXW9
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1 copy number loss See cases [RCV000141814] Chr19:12357905..12768046 [GRCh38]
Chr19:12468719..12878860 [GRCh37]
Chr19:12329719..12739860 [NCBI36]
Chr19:19p13.2-13.13
uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:12796326-12807236)x1 copy number loss not provided [RCV000752566] Chr19:12796326..12807236 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_032301.3(FBXW9):c.764C>T (p.Ala255Val) single nucleotide variant Inborn genetic diseases [RCV003271131] Chr19:12691369 [GRCh38]
Chr19:12802183 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_032301.3(FBXW9):c.247C>A (p.Pro83Thr) single nucleotide variant Inborn genetic diseases [RCV003272608] Chr19:12696335 [GRCh38]
Chr19:12807149 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1121G>A (p.Arg374His) single nucleotide variant Inborn genetic diseases [RCV003254230] Chr19:12689786 [GRCh38]
Chr19:12800600 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
Single allele deletion not provided [RCV000844961] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2
not provided
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic
NM_032301.3(FBXW9):c.1015G>T (p.Val339Phe) single nucleotide variant Inborn genetic diseases [RCV003246462] Chr19:12689979 [GRCh38]
Chr19:12800793 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1346T>G (p.Leu449Arg) single nucleotide variant Inborn genetic diseases [RCV003270434] Chr19:12689247 [GRCh38]
Chr19:12800061 [GRCh37]
Chr19:19p13.13
uncertain significance
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10642984-12810067) copy number loss not provided [RCV001249213] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2
not provided
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1 copy number loss not provided [RCV001834482] Chr19:12697728..14111313 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
NC_000019.9:g.(?_12757434)_(13617038_?)del deletion Episodic ataxia type 2 [RCV001953618]|Glutaric aciduria, type 1 [RCV001947065] Chr19:12757434..13617038 [GRCh37]
Chr19:19p13.2
pathogenic
NC_000019.9:g.(?_12757434)_(13373667_?)del deletion Aicardi-Goutieres syndrome 4 [RCV001923352]|Episodic ataxia type 2 [RCV001923351]|not provided [RCV001923353] Chr19:12757434..13373667 [GRCh37]
Chr19:19p13.2
pathogenic|uncertain significance
NM_032301.3(FBXW9):c.7C>T (p.Leu3Phe) single nucleotide variant Inborn genetic diseases [RCV002902118] Chr19:12696575 [GRCh38]
Chr19:12807389 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.56A>C (p.Asp19Ala) single nucleotide variant Inborn genetic diseases [RCV002972857] Chr19:12696526 [GRCh38]
Chr19:12807340 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.944C>T (p.Ala315Val) single nucleotide variant Inborn genetic diseases [RCV002844256] Chr19:12690050 [GRCh38]
Chr19:12800864 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.265G>C (p.Glu89Gln) single nucleotide variant Inborn genetic diseases [RCV002762026] Chr19:12696317 [GRCh38]
Chr19:12807131 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.653G>A (p.Gly218Asp) single nucleotide variant Inborn genetic diseases [RCV002798377] Chr19:12694619 [GRCh38]
Chr19:12805433 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.643A>C (p.Lys215Gln) single nucleotide variant Inborn genetic diseases [RCV002709129] Chr19:12694629 [GRCh38]
Chr19:12805443 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.631C>A (p.Gln211Lys) single nucleotide variant Inborn genetic diseases [RCV002930105] Chr19:12694641 [GRCh38]
Chr19:12805455 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1354G>C (p.Glu452Gln) single nucleotide variant Inborn genetic diseases [RCV002854152] Chr19:12689239 [GRCh38]
Chr19:12800053 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1036G>A (p.Asp346Asn) single nucleotide variant Inborn genetic diseases [RCV002742243] Chr19:12689871 [GRCh38]
Chr19:12800685 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.712C>T (p.Arg238Cys) single nucleotide variant Inborn genetic diseases [RCV002900787] Chr19:12691421 [GRCh38]
Chr19:12802235 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.464G>T (p.Arg155Leu) single nucleotide variant Inborn genetic diseases [RCV002813446] Chr19:12694884 [GRCh38]
Chr19:12805698 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1159G>T (p.Gly387Cys) single nucleotide variant Inborn genetic diseases [RCV002747229] Chr19:12689618 [GRCh38]
Chr19:12800432 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.569C>T (p.Ser190Leu) single nucleotide variant Inborn genetic diseases [RCV003010584] Chr19:12694703 [GRCh38]
Chr19:12805517 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.818C>A (p.Ser273Tyr) single nucleotide variant Inborn genetic diseases [RCV002944507] Chr19:12691231 [GRCh38]
Chr19:12802045 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.622G>C (p.Glu208Gln) single nucleotide variant Inborn genetic diseases [RCV002680450] Chr19:12694650 [GRCh38]
Chr19:12805464 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.210G>C (p.Arg70Ser) single nucleotide variant Inborn genetic diseases [RCV003201262] Chr19:12696372 [GRCh38]
Chr19:12807186 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1120C>T (p.Arg374Cys) single nucleotide variant Inborn genetic diseases [RCV003183564] Chr19:12689787 [GRCh38]
Chr19:12800601 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1004G>A (p.Arg335Gln) single nucleotide variant Inborn genetic diseases [RCV003202630] Chr19:12689990 [GRCh38]
Chr19:12800804 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.1235G>A (p.Arg412Gln) single nucleotide variant Inborn genetic diseases [RCV003357722] Chr19:12689542 [GRCh38]
Chr19:12800356 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.581A>G (p.Asp194Gly) single nucleotide variant Inborn genetic diseases [RCV003361703] Chr19:12694691 [GRCh38]
Chr19:12805505 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_032301.3(FBXW9):c.952C>G (p.Arg318Gly) single nucleotide variant Inborn genetic diseases [RCV003384919] Chr19:12690042 [GRCh38]
Chr19:12800856 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3 copy number gain not provided [RCV003485193] Chr19:12281048..13573342 [GRCh37]
Chr19:19p13.2
likely pathogenic
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2101
Count of miRNA genes:714
Interacting mature miRNAs:818
Transcripts:ENST00000380339, ENST00000393261, ENST00000544494, ENST00000587296, ENST00000587955
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
G54157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,647,085 - 35,647,217UniSTSGRCh37
GRCh371912,804,224 - 12,804,461UniSTSGRCh37
Build 361732,721,198 - 32,721,330RGDNCBI36
Celera1732,469,653 - 32,469,785RGD
Celera1912,693,938 - 12,694,175UniSTS
HuRef1731,583,047 - 31,583,179UniSTS
HuRef7101,656,836 - 101,657,127UniSTS
HuRef1912,377,219 - 12,377,440UniSTS
WI-14066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,799,742 - 12,799,866UniSTSGRCh37
Build 361912,660,742 - 12,660,866RGDNCBI36
Celera1912,689,456 - 12,689,580RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,372,736 - 12,372,860UniSTS
GeneMap99-GB4 RH Map1972.87UniSTS
Whitehead-RH Map1957.8UniSTS
NCBI RH Map1987.9UniSTS


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 263 18 1059 147 388 52 1674 67 880 214 1054 1037 107 60 885 1
Low 2176 2914 667 477 1521 413 2681 2109 2849 205 406 576 67 1 1144 1902 5 2
Below cutoff 59 42 1 21 5 1

Sequence


RefSeq Acc Id: ENST00000393261   ⟹   ENSP00000376945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,688,916 - 12,696,631 (-)Ensembl
RefSeq Acc Id: ENST00000587296   ⟹   ENSP00000465854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,688,053 - 12,696,619 (-)Ensembl
RefSeq Acc Id: ENST00000587955   ⟹   ENSP00000465387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,689,216 - 12,696,581 (-)Ensembl
RefSeq Acc Id: NM_032301   ⟹   NP_115677
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,688,916 - 12,696,631 (-)NCBI
GRCh371912,799,730 - 12,807,649 (-)NCBI
Build 361912,660,730 - 12,668,455 (-)NCBI Archive
Celera1912,689,444 - 12,697,169 (-)RGD
HuRef1912,372,724 - 12,380,434 (-)ENTREZGENE
CHM1_11912,800,253 - 12,807,962 (-)NCBI
T2T-CHM13v2.01912,813,416 - 12,821,121 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005260096   ⟹   XP_005260153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,688,916 - 12,696,631 (-)NCBI
GRCh371912,799,730 - 12,807,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054322334   ⟹   XP_054178309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01912,813,416 - 12,821,121 (-)NCBI
RefSeq Acc Id: NP_115677   ⟸   NM_032301
- UniProtKB: B3KVP7 (UniProtKB/Swiss-Prot),   Q9BT89 (UniProtKB/Swiss-Prot),   Q5XUX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005260153   ⟸   XM_005260096
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000465854   ⟸   ENST00000587296
RefSeq Acc Id: ENSP00000465387   ⟸   ENST00000587955
RefSeq Acc Id: ENSP00000376945   ⟸   ENST00000393261
RefSeq Acc Id: XP_054178309   ⟸   XM_054322334
- Peptide Label: isoform X1
Protein Domains
F-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5XUX1-F1-model_v2 AlphaFold Q5XUX1 1-458 view protein structure

Promoters
RGD ID:6795555
Promoter ID:HG_KWN:29018
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:ENST00000380339,   ENST00000393261,   UC002MUN.1,   UC010DYX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,668,226 - 12,668,726 (-)MPROMDB
RGD ID:7238703
Promoter ID:EPDNEW_H25098
Type:initiation region
Name:FBXW9_1
Description:F-box and WD repeat domain containing 9
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
GRCh381912,696,631 - 12,696,691EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28136 AgrOrtholog
COSMIC FBXW9 COSMIC
Ensembl Genes ENSG00000132004 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000393261 ENTREZGENE
  ENST00000393261.8 UniProtKB/Swiss-Prot
  ENST00000587296.1 UniProtKB/TrEMBL
  ENST00000587955.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1280.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000132004 GTEx
HGNC ID HGNC:28136 ENTREZGENE
Human Proteome Map FBXW9 Human Proteome Map
InterPro F-box-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F-box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_CS UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:84261 UniProtKB/Swiss-Prot
NCBI Gene 84261 ENTREZGENE
OMIM 609074 OMIM
PANTHER F-BOX_WD REPEAT-CONTAINING PROTEIN 9 UniProtKB/Swiss-Prot
  WD40 REPEAT PROTEIN 12, 37 UniProtKB/Swiss-Prot
Pfam F-box-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot
PharmGKB PA134910095 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot
PROSITE FBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART FBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot
  SSF81383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KVP7 ENTREZGENE
  FBXW9_HUMAN UniProtKB/Swiss-Prot
  K7EL01_HUMAN UniProtKB/TrEMBL
  Q5XUX1 ENTREZGENE
  Q9BT89 ENTREZGENE
UniProt Secondary B3KVP7 UniProtKB/Swiss-Prot
  Q9BT89 UniProtKB/Swiss-Prot