Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80204
Gene name	F-box protein 11
Gene symbol	FBXO11
Synonyms (NCBI Gene)	FBX11IDDFBAPRMT9UBR6UG063H01VIT1
Chromosome	2
Chromosome location	2p16.3
Summary	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), w

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553334863	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1553334874	->A	Pathogenic	Stop gained, coding sequence variant
rs1553335247	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553338592	T>C	Pathogenic	Coding sequence variant, missense variant
rs1553342101	->C	Pathogenic	Splice donor variant, coding sequence variant
rs1553342109	T>A	Pathogenic	Coding sequence variant, missense variant
rs1558414256	G>A	Pathogenic	Stop gained, coding sequence variant
rs1572753822	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572764698	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572764737	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1572776344	A>T	Likely-pathogenic	Splice donor variant
rs1572785471	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572806589	C>G	Likely-pathogenic	Splice acceptor variant
rs1572820988	G>C	Likely-pathogenic	Coding sequence variant, stop gained

275

Show/Hide all (275)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025191	hsa-miR-181a-5p	Sequencing	20371350
MIRT027332	hsa-miR-101-3p	Sequencing	20371350
MIRT030357	hsa-miR-26b-5p	Sequencing	20371350
MIRT031059	hsa-miR-21-5p	Microarray	18591254
MIRT039392	hsa-miR-421	CLASH	23622248
MIRT448858	hsa-miR-4453	PAR-CLIP	22100165
MIRT448857	hsa-miR-4538	PAR-CLIP	22100165
MIRT448856	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT025191	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727678	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727677	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727676	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727675	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT030357	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT031059	hsa-miR-21-5p	Luciferase reporter assay	25589783
MIRT031059	hsa-miR-21-5p	Luciferase reporter assay	25589783
MIRT733114	hsa-miR-324-5p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blotting	31778188
MIRT733114	hsa-miR-324-5p	Luciferase reporter assayWestern blottingqRT-PCR	33061453
MIRT448858	hsa-miR-4453	PAR-CLIP	22100165
MIRT448857	hsa-miR-4538	PAR-CLIP	22100165
MIRT448856	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT991216	hsa-miR-1207-5p	CLIP-seq
MIRT991217	hsa-miR-1252	CLIP-seq
MIRT991218	hsa-miR-1272	CLIP-seq
MIRT991219	hsa-miR-1286	CLIP-seq
MIRT991220	hsa-miR-1322	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991222	hsa-miR-299-5p	CLIP-seq
MIRT991223	hsa-miR-3065-5p	CLIP-seq
MIRT991224	hsa-miR-3137	CLIP-seq
MIRT991225	hsa-miR-3202	CLIP-seq
MIRT991226	hsa-miR-3613-3p	CLIP-seq
MIRT991227	hsa-miR-3714	CLIP-seq
MIRT991228	hsa-miR-376a	CLIP-seq
MIRT991229	hsa-miR-376b	CLIP-seq
MIRT991230	hsa-miR-4484	CLIP-seq
MIRT991231	hsa-miR-4533	CLIP-seq
MIRT991232	hsa-miR-4722-5p	CLIP-seq
MIRT991233	hsa-miR-4736	CLIP-seq
MIRT991234	hsa-miR-4747-5p	CLIP-seq
MIRT991235	hsa-miR-4763-3p	CLIP-seq
MIRT991236	hsa-miR-4775	CLIP-seq
MIRT991237	hsa-miR-4778-3p	CLIP-seq
MIRT991238	hsa-miR-505	CLIP-seq
MIRT991239	hsa-miR-548an	CLIP-seq
MIRT991240	hsa-miR-548t	CLIP-seq
MIRT991241	hsa-miR-633	CLIP-seq
MIRT991242	hsa-miR-101	CLIP-seq
MIRT991243	hsa-miR-1200	CLIP-seq
MIRT991216	hsa-miR-1207-5p	CLIP-seq
MIRT991217	hsa-miR-1252	CLIP-seq
MIRT991244	hsa-miR-1264	CLIP-seq
MIRT991218	hsa-miR-1272	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT991220	hsa-miR-1322	CLIP-seq
MIRT991246	hsa-miR-144	CLIP-seq
MIRT991247	hsa-miR-148a	CLIP-seq
MIRT991248	hsa-miR-148b	CLIP-seq
MIRT991249	hsa-miR-152	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991250	hsa-miR-181a	CLIP-seq
MIRT991251	hsa-miR-181b	CLIP-seq
MIRT991252	hsa-miR-181c	CLIP-seq
MIRT991253	hsa-miR-181d	CLIP-seq
MIRT991254	hsa-miR-188-5p	CLIP-seq
MIRT991255	hsa-miR-23a	CLIP-seq
MIRT991256	hsa-miR-23b	CLIP-seq
MIRT991257	hsa-miR-23c	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991260	hsa-miR-302a	CLIP-seq
MIRT991261	hsa-miR-302b	CLIP-seq
MIRT991262	hsa-miR-302c	CLIP-seq
MIRT991263	hsa-miR-302d	CLIP-seq
MIRT991264	hsa-miR-302e	CLIP-seq
MIRT991265	hsa-miR-3064-3p	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT991267	hsa-miR-3182	CLIP-seq
MIRT991225	hsa-miR-3202	CLIP-seq
MIRT991226	hsa-miR-3613-3p	CLIP-seq
MIRT991268	hsa-miR-3667-3p	CLIP-seq
MIRT991269	hsa-miR-3680	CLIP-seq
MIRT991270	hsa-miR-372	CLIP-seq
MIRT991271	hsa-miR-373	CLIP-seq
MIRT991228	hsa-miR-376a	CLIP-seq
MIRT991229	hsa-miR-376b	CLIP-seq
MIRT991272	hsa-miR-384	CLIP-seq
MIRT991273	hsa-miR-3941	CLIP-seq
MIRT991274	hsa-miR-4252	CLIP-seq
MIRT991275	hsa-miR-4262	CLIP-seq
MIRT991276	hsa-miR-4324	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT991278	hsa-miR-4476	CLIP-seq
MIRT991231	hsa-miR-4533	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT991280	hsa-miR-4672	CLIP-seq
MIRT991281	hsa-miR-4715-3p	CLIP-seq
MIRT991233	hsa-miR-4736	CLIP-seq
MIRT991234	hsa-miR-4747-5p	CLIP-seq
MIRT991235	hsa-miR-4763-3p	CLIP-seq
MIRT991237	hsa-miR-4778-3p	CLIP-seq
MIRT991282	hsa-miR-495	CLIP-seq
MIRT991238	hsa-miR-505	CLIP-seq
MIRT991283	hsa-miR-520a-3p	CLIP-seq
MIRT991284	hsa-miR-520b	CLIP-seq
MIRT991285	hsa-miR-520c-3p	CLIP-seq
MIRT991286	hsa-miR-520d-3p	CLIP-seq
MIRT991287	hsa-miR-520e	CLIP-seq
MIRT991288	hsa-miR-544b	CLIP-seq
MIRT991240	hsa-miR-548t	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT991290	hsa-miR-621	CLIP-seq
MIRT991241	hsa-miR-633	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq
MIRT991243	hsa-miR-1200	CLIP-seq
MIRT991244	hsa-miR-1264	CLIP-seq
MIRT1993971	hsa-miR-1275	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT1993972	hsa-miR-1302	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT1993973	hsa-miR-1911	CLIP-seq
MIRT1993974	hsa-miR-21	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT1993975	hsa-miR-3158-3p	CLIP-seq
MIRT991267	hsa-miR-3182	CLIP-seq
MIRT1993976	hsa-miR-323b-3p	CLIP-seq
MIRT991226	hsa-miR-3613-3p	CLIP-seq
MIRT991228	hsa-miR-376a	CLIP-seq
MIRT991229	hsa-miR-376b	CLIP-seq
MIRT991273	hsa-miR-3941	CLIP-seq
MIRT1993977	hsa-miR-412	CLIP-seq
MIRT1993978	hsa-miR-4298	CLIP-seq
MIRT991276	hsa-miR-4324	CLIP-seq
MIRT1993979	hsa-miR-4446-3p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT1993980	hsa-miR-4525	CLIP-seq
MIRT1993981	hsa-miR-4643	CLIP-seq
MIRT1993982	hsa-miR-4659a-3p	CLIP-seq
MIRT1993983	hsa-miR-4659b-3p	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT1993984	hsa-miR-4665-5p	CLIP-seq
MIRT991280	hsa-miR-4672	CLIP-seq
MIRT1993985	hsa-miR-4675	CLIP-seq
MIRT1993986	hsa-miR-4694-3p	CLIP-seq
MIRT1993987	hsa-miR-4723-5p	CLIP-seq
MIRT1993988	hsa-miR-4741	CLIP-seq
MIRT991237	hsa-miR-4778-3p	CLIP-seq
MIRT1993989	hsa-miR-4789-3p	CLIP-seq
MIRT1993990	hsa-miR-522	CLIP-seq
MIRT991288	hsa-miR-544b	CLIP-seq
MIRT991240	hsa-miR-548t	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT1993991	hsa-miR-590-5p	CLIP-seq
MIRT1993992	hsa-miR-625	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT991244	hsa-miR-1264	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT2227970	hsa-miR-338-5p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT2227971	hsa-miR-4477a	CLIP-seq
MIRT2227972	hsa-miR-4777-5p	CLIP-seq
MIRT2227973	hsa-miR-576-3p	CLIP-seq
MIRT2227974	hsa-miR-584	CLIP-seq
MIRT991241	hsa-miR-633	CLIP-seq
MIRT2227975	hsa-miR-656	CLIP-seq
MIRT991242	hsa-miR-101	CLIP-seq
MIRT1993971	hsa-miR-1275	CLIP-seq
MIRT2531499	hsa-miR-1279	CLIP-seq
MIRT991219	hsa-miR-1286	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT1993972	hsa-miR-1302	CLIP-seq
MIRT991246	hsa-miR-144	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991250	hsa-miR-181a	CLIP-seq
MIRT991251	hsa-miR-181b	CLIP-seq
MIRT991252	hsa-miR-181c	CLIP-seq
MIRT991253	hsa-miR-181d	CLIP-seq
MIRT1993973	hsa-miR-1911	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991222	hsa-miR-299-5p	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT1993975	hsa-miR-3158-3p	CLIP-seq
MIRT2531500	hsa-miR-3180-5p	CLIP-seq
MIRT1993976	hsa-miR-323b-3p	CLIP-seq
MIRT2531501	hsa-miR-338-3p	CLIP-seq
MIRT991275	hsa-miR-4262	CLIP-seq
MIRT1993978	hsa-miR-4298	CLIP-seq
MIRT2531502	hsa-miR-4328	CLIP-seq
MIRT2531503	hsa-miR-4427	CLIP-seq
MIRT1993979	hsa-miR-4446-3p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT1993980	hsa-miR-4525	CLIP-seq
MIRT2531504	hsa-miR-4530	CLIP-seq
MIRT1993981	hsa-miR-4643	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT1993984	hsa-miR-4665-5p	CLIP-seq
MIRT2531505	hsa-miR-4668-3p	CLIP-seq
MIRT1993985	hsa-miR-4675	CLIP-seq
MIRT2531506	hsa-miR-4680-3p	CLIP-seq
MIRT1993986	hsa-miR-4694-3p	CLIP-seq
MIRT991232	hsa-miR-4722-5p	CLIP-seq
MIRT1993987	hsa-miR-4723-5p	CLIP-seq
MIRT2531507	hsa-miR-4738-3p	CLIP-seq
MIRT1993988	hsa-miR-4741	CLIP-seq
MIRT991236	hsa-miR-4775	CLIP-seq
MIRT1993989	hsa-miR-4789-3p	CLIP-seq
MIRT991282	hsa-miR-495	CLIP-seq
MIRT2531508	hsa-miR-513c	CLIP-seq
MIRT2531509	hsa-miR-514b-5p	CLIP-seq
MIRT1993990	hsa-miR-522	CLIP-seq
MIRT2531510	hsa-miR-548ae	CLIP-seq
MIRT2531511	hsa-miR-548aj	CLIP-seq
MIRT2531512	hsa-miR-548am	CLIP-seq
MIRT2531513	hsa-miR-548g	CLIP-seq
MIRT2531514	hsa-miR-548x	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT1993992	hsa-miR-625	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq
MIRT1993971	hsa-miR-1275	CLIP-seq
MIRT2531499	hsa-miR-1279	CLIP-seq
MIRT991219	hsa-miR-1286	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT1993972	hsa-miR-1302	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991250	hsa-miR-181a	CLIP-seq
MIRT991251	hsa-miR-181b	CLIP-seq
MIRT991252	hsa-miR-181c	CLIP-seq
MIRT991253	hsa-miR-181d	CLIP-seq
MIRT1993973	hsa-miR-1911	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991222	hsa-miR-299-5p	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT1993975	hsa-miR-3158-3p	CLIP-seq
MIRT2531500	hsa-miR-3180-5p	CLIP-seq
MIRT1993976	hsa-miR-323b-3p	CLIP-seq
MIRT2531501	hsa-miR-338-3p	CLIP-seq
MIRT991275	hsa-miR-4262	CLIP-seq
MIRT1993978	hsa-miR-4298	CLIP-seq
MIRT2531502	hsa-miR-4328	CLIP-seq
MIRT2531503	hsa-miR-4427	CLIP-seq
MIRT1993979	hsa-miR-4446-3p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT1993980	hsa-miR-4525	CLIP-seq
MIRT2531504	hsa-miR-4530	CLIP-seq
MIRT1993981	hsa-miR-4643	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT1993984	hsa-miR-4665-5p	CLIP-seq
MIRT2531505	hsa-miR-4668-3p	CLIP-seq
MIRT1993985	hsa-miR-4675	CLIP-seq
MIRT2531506	hsa-miR-4680-3p	CLIP-seq
MIRT1993986	hsa-miR-4694-3p	CLIP-seq
MIRT991232	hsa-miR-4722-5p	CLIP-seq
MIRT1993987	hsa-miR-4723-5p	CLIP-seq
MIRT2531507	hsa-miR-4738-3p	CLIP-seq
MIRT1993988	hsa-miR-4741	CLIP-seq
MIRT991236	hsa-miR-4775	CLIP-seq
MIRT1993989	hsa-miR-4789-3p	CLIP-seq
MIRT991282	hsa-miR-495	CLIP-seq
MIRT2531508	hsa-miR-513c	CLIP-seq
MIRT2531509	hsa-miR-514b-5p	CLIP-seq
MIRT1993990	hsa-miR-522	CLIP-seq
MIRT2531513	hsa-miR-548g	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT1993992	hsa-miR-625	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	NAS	10531035, 10531037
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	16096638
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	10531035
GO:0005515	Function	Protein binding	IPI	17098746, 20596027, 22113614, 22632967, 25203322, 25416956, 27705803, 29892012, 31515488, 33961781
GO:0005634	Component	Nucleus	IDA	25827072
GO:0005634	Component	Nucleus	IDA	16487488
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	16487488
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	10531037
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IDA	25827072
GO:0016274	Function	Protein-arginine N-methyltransferase activity	IDA	16487488
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	NAS	10531035
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23453970
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	25827072
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	29059170
GO:0046872	Function	Metal ion binding	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	25827072

MIM	HGNC	e!Ensembl
607871	13590	ENSG00000138081

Q86XK2

Protein name

F-box only protein 11 (Protein arginine N-methyltransferase 9) (Vitiligo-associated protein 1) (VIT-1)

Protein function

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1 (P

PDB

5VMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12937	F-box-like	157 → 202	F-box-like	Domain
PF13229	Beta_helix	329 → 495	Right handed beta helix region	Family
PF13229	Beta_helix	387 → 535	Right handed beta helix region	Family
PF13229	Beta_helix	481 → 635	Right handed beta helix region	Family
PF13229	Beta_helix	583 → 714	Right handed beta helix region	Family
PF13229	Beta_helix	664 → 823	Right handed beta helix region	Family
PF02207	zf-UBR	834 → 901	Putative zinc finger in N-recognin (UBR box)	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 5 is expressed in keratinocytes, fibroblasts and melanocytes. {ECO:0000269|PubMed:11775060}.

Sequence

MNSVRAANRRPRRVSRPRPVQQQQQQPPQQPPPQPPQQQPPQQQPPPPPQQQQQQQPPPP
PPPPPPLPQERNNVGERDDDVPADMVAEESGPGAQNSPYQLRRKTLLPKRTACPTKNSME
GASTSTTENFGHRAKRARVSGKSQDLSAAPAEQYLQEKLPDEVVLKIFSYLLEQDLCRAA
CVCKRFSELANDPILWKRLYMEVFEYTRPMMHPEPGKFYQINPEEYEHPNPWKESFQQLY
KGAHVKPGFAEHFYSNPARYKGRENMLYYDTIEDALGGVQEAHFDGLIFVHSGIYTDEWI
YIESPITMIGAAPGKVADKVIIENTRDSTFVFMEGSEDAYVGYMTIRFNPDDKSAQHHNA
HHCLEITVNCSPIIDHCIIRSTCTVGSAVCVSGQGACPTIKHCNISDCENVGLYITDHAQ
GIYEDNEISNNALAGIWVKNHGNPIIRRNHIHHGRDVGVFTFDHGMGYFESCNIHRNRIA
GFEVKAYANPTVVRCEIHHGQTGGIYVHEKGRGQFIENKIYANNFAGVWITSNSDPTIRG
NSIFNGNQGGVYIFGDGRGLIEGNDIYGNALAGIQIRTNSCPIVRHNKIHDGQHGGIYVH
EKGQGVIEENEVYSNTLAGVWVTTGSTPVLRRNRIHSGKQVGVYFYDNGHGVLEDNDIYN
HMYSGVQIRTGSNPKIRRNKIWGGQNGGILVYNSGLGCIEDNEIFDNAMAGVWIKTDSNP
TLRRNKIHDGRDGGICIFNGGRGLLEENDIFRNAQAGVLISTNSHPILRKNRIFDGFAAG
IEITNHATATLEGNQIFNNRFGGLFLASGVNVTMKDNKIMNNQDAIEKAVSRGQCLYKIS
SYTSYPMHDFYRCHTCNTTDRNAICVNCIKKCHQGHDVEFIRHDRFFCDCGAGTLSNPCT
LAGEPTHDTDTLYDSAPPIESNTLQHN

Sequence length

927

Interactions

View interactions

	Reactome
			Neddylation Antigen processing: Ubiquitination & Proteasome degradation

228

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Delayed speech and language development	Likely pathogenic	rs1672530798	RCV001328479
Developmental disorder	Likely pathogenic	rs2531057032	RCV003128063
FBXO11-related disorder	Likely pathogenic	rs770336997, rs772573176, rs2531003311	RCV004752136 RCV003418928 RCV003399845
Gastric cancer	Likely pathogenic; Pathogenic	rs1553338592	RCV005901565
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Likely pathogenic; Pathogenic	rs1672530798, rs1670528197, rs2104716435, rs2104716005, rs2104657995, rs2104632978, rs2104833077, rs2104731734, rs2104860646, rs2104731942, rs2104856413, rs2104860667, rs2104808289, rs2104856077, rs2104658407 View all (54 more)	RCV001799758 RCV001332987 RCV001800169 RCV001800170 RCV001800171 RCV001800172 RCV001800173 RCV001800174 RCV001800175 RCV001800176 RCV001800177 RCV001800178 RCV001800179 RCV001800180 RCV001800181 RCV001800182 RCV001800183 RCV001800268 RCV001800269 RCV001800270 RCV001800271 RCV001800272 RCV001800273 RCV001800274 RCV001800275 RCV001800276 RCV001800277 RCV001800279 RCV001800280 RCV001800281 RCV001800282 RCV001800283 RCV001800284 RCV001800285 RCV001800286 RCV001800287 RCV003493897 RCV002071036 RCV002226899 RCV002287588 RCV002291136 RCV002444406 RCV002467406 RCV002571626 RCV003128064 RCV003128295 RCV003324425 RCV003484588 RCV004560505 RCV000677377 RCV000677378 RCV000677380 RCV000677381 RCV000677382 RCV000791347 RCV004768713 RCV000851180 RCV000991219 RCV000995546 RCV001028025 RCV001175152 RCV001175154 RCV001252492 RCV001253105 RCV001254156 RCV001254157 RCV001262525 RCV001799755 RCV001270372 RCV001528154
Intellectual disability	Likely pathogenic	rs1671446564	RCV001312192
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1572806589	RCV000850469
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2104808169, rs1553338592, rs1553342109, rs1553334874, rs1553334863, rs1572806589, rs1670355281, rs1672276134, rs1670356255, rs1670356870, rs1670358755, rs1670753929, rs1670754178, rs1671196392, rs1671197579, rs1672803381, rs1672806975 View all (2 more)	RCV001374992 RCV001291312 RCV001291313 RCV001291438 RCV001291439 RCV001291432 RCV001291319 RCV001291433 RCV001291318 RCV001291437 RCV001291317 RCV001291436 RCV001291435 RCV001291315 RCV001291434 RCV001291321 RCV001291314
Obesity	Likely pathogenic	rs1572820988	RCV000787970
See cases	Likely pathogenic	rs2104739052, rs2104807871	RCV001420270 RCV001420271

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs17036993, rs534101765, rs200604756	RCV005889531 RCV005926169 RCV005925978
Adrenocortical carcinoma, hereditary	Benign	rs17036993	RCV005889533
Cervical cancer	Benign; Likely benign	rs142562364, rs17036993, rs1671519226	RCV005924119 RCV005889534 RCV005928365
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs200604756	RCV005925982
Clear cell carcinoma of kidney	Benign	rs17036993	RCV005889535
Colon adenocarcinoma	Benign	rs17036993	RCV005889530
Familial pancreatic carcinoma	Benign	rs529563653	RCV005927939
Hepatocellular carcinoma	Uncertain significance; Benign	rs771961928, rs142562364	RCV005922433 RCV005924118
Lung cancer	Likely benign	rs200604756	RCV005925980
Malignant tumor of esophagus	Benign	rs17036993	RCV005889532
Ovarian serous cystadenocarcinoma	Benign	rs17036993	RCV005889538
Sarcoma	Benign	rs17036993	RCV005889536
Thymoma	Benign	rs17036993	RCV005889540
Thyroid cancer, nonmedullary, 1	Benign	rs17036993	RCV005889541
Uterine carcinosarcoma	Benign; Likely benign	rs17036993, rs200604756	RCV005889539 RCV005925979
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs17036993, rs200604756	RCV005889542 RCV005925981

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	29725252
Anxiety	Associate	30679813
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity	Associate	30057029
Attention Deficit Disorder with Hyperactivity	Associate	30679813
Autism Spectrum Disorder	Associate	30679813, 31838722
Body Dysmorphic Disorders	Associate	30679813
Burkitt Lymphoma	Associate	34472720
Carcinoma Hepatocellular	Inhibit	32657545
Carcinoma Renal Cell	Associate	31159774
Cleft Lip	Associate	30057029
Developmental Disabilities	Associate	30057029, 33811277, 34505148, 35726512
Glaucoma Open Angle	Associate	22876139
Hypersensitivity Delayed	Associate	33811277
Inflammation	Associate	32768929
Intellectual Disability	Associate	30057029, 30679813
Iridogoniodysgenesis and skeletal anomalies	Associate	30057029
Joint Diseases	Associate	30679813
Kidney Neoplasms	Stimulate	31159774
Leukemia	Associate	33024076
Leukemia Myeloid Acute	Inhibit	33024076
Lymphoma	Associate	31365872
Lymphoma B Cell Marginal Zone	Associate	24349473
Lymphoma Large B Cell Diffuse	Associate	33811277
Megalencephaly	Associate	30057029
Mental Disorders	Associate	30057029, 30679813
Microcephaly	Associate	30057029
Muscle Hypotonia	Associate	30679813
Myelodysplastic Syndromes	Associate	33024076
Neoplasms	Associate	22876139, 31159774, 36179686
Neoplasms	Inhibit	23892434, 32657545, 33024076
Obesity	Associate	30057029
Personality Disorders	Associate	30679813
Prostatic Neoplasms	Associate	28403887
Pulmonary Disease Chronic Obstructive	Associate	32768929
Seizures	Associate	30057029
Stomach Neoplasms	Associate	29725252, 32218690
Vitiligo	Associate	11775060

FBXO11 (F-box protein 11)