Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	DNA-binding transcription factor activity, RNA polymerase II-specific	DUX4L2 DUX4 DUX5 DUX3 DUX1 ZBTB7C DUX4L4 NOTCH4 DUX4L9	2.09e-04	1412	31	9	GO:0000981
GeneOntologyMolecularFunction	RNA polymerase II transcription regulatory region sequence-specific DNA binding	DUX4L2 DUX4 DUX5 DUX3 DUX1 ZBTB7C DUX4L4 MTF2 DUX4L9	2.67e-04	1459	31	9	GO:0000977
Domain	HTH_motif	DUX4 DUX5 DUX3 DUX1	2.81e-06	69	27	4	IPR000047
Domain	Homeobox	DUX4 DUX5 DUX3 DUX1	3.36e-04	234	27	4	PF00046
Domain	HOX	DUX4 DUX5 DUX3 DUX1	3.53e-04	237	27	4	SM00389
Domain	Homeobox_dom	DUX4 DUX5 DUX3 DUX1	3.64e-04	239	27	4	IPR001356
Domain	HOMEOBOX_2	DUX4 DUX5 DUX3 DUX1	3.64e-04	239	27	4	PS50071
Domain	Znf_FYVE_PHD	RIMS1 MTF2 PHRF1	1.22e-03	147	27	3	IPR011011
Domain	Homeodomain-like	DUX4 DUX5 DUX3 DUX1	1.25e-03	332	27	4	IPR009057
Domain	LDLR_class-A_CS	LRP3 MFRP	1.52e-03	40	27	2	IPR023415
Domain	Ldl_recept_a	LRP3 MFRP	1.92e-03	45	27	2	PF00057
Domain	-	LRP3 MFRP	2.00e-03	46	27	2	4.10.400.10
Domain	LDLRA_1	LRP3 MFRP	2.18e-03	48	27	2	PS01209
Domain	LDrepeatLR_classA_rpt	LRP3 MFRP	2.27e-03	49	27	2	IPR002172
Domain	LDLa	LRP3 MFRP	2.27e-03	49	27	2	SM00192
Domain	CUB	LRP3 MFRP	2.27e-03	49	27	2	PF00431
Domain	LDLRA_2	LRP3 MFRP	2.27e-03	49	27	2	PS50068
Domain	CUB	LRP3 MFRP	2.36e-03	50	27	2	SM00042
Domain	-	LRP3 MFRP	2.55e-03	52	27	2	2.60.120.290
Domain	CUB	LRP3 MFRP	2.65e-03	53	27	2	PS01180
Domain	CUB_dom	LRP3 MFRP	3.06e-03	57	27	2	IPR000859
Domain	-	RIMS1 USP51 MTF2 PHRF1	3.73e-03	449	27	4	3.30.40.10
Domain	Znf_RING/FYVE/PHD	RIMS1 USP51 MTF2 PHRF1	4.04e-03	459	27	4	IPR013083
Domain	HOMEOBOX_1	DUX5 DUX3 DUX1	4.66e-03	236	27	3	PS00027
Domain	PHD	MTF2 PHRF1	5.23e-03	75	27	2	PF00628
Domain	Znf_PHD-finger	MTF2 PHRF1	5.79e-03	79	27	2	IPR019787
Domain	PHD	MTF2 PHRF1	7.29e-03	89	27	2	SM00249
Domain	Znf_PHD	MTF2 PHRF1	7.61e-03	91	27	2	IPR001965
Domain	-	DUX4 DUX5 DUX1	7.69e-03	283	27	3	1.10.10.60
Domain	ZF_PHD_2	MTF2 PHRF1	8.27e-03	95	27	2	PS50016
Domain	ZF_PHD_1	MTF2 PHRF1	8.44e-03	96	27	2	PS01359
Domain	PDZ	RIMS1 TJP3	1.76e-02	141	27	2	PF00595
Domain	PDZ	RIMS1 TJP3	1.92e-02	148	27	2	SM00228
Domain	-	RIMS1 TJP3	1.97e-02	150	27	2	2.30.42.10
Domain	PDZ	RIMS1 TJP3	2.00e-02	151	27	2	PS50106
Pathway	REACTOME_ACETYLCHOLINE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.63e-04	17	16	2	M93
Pathway	REACTOME_ACETYLCHOLINE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.63e-04	17	16	2	MM14907
Pathway	REACTOME_SEROTONIN_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.83e-04	18	16	2	M27043
Pathway	REACTOME_NOREPINEPHRINE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.83e-04	18	16	2	M13015
Pathway	REACTOME_SEROTONIN_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.83e-04	18	16	2	MM14702
Pathway	REACTOME_NOREPINEPHRINE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.83e-04	18	16	2	MM14703
Pathway	REACTOME_DOPAMINE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	3.01e-04	23	16	2	MM14852
Pathway	REACTOME_DOPAMINE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	3.01e-04	23	16	2	M12627
Pathway	REACTOME_GLUTAMATE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	3.29e-04	24	16	2	MM14834
Pathway	REACTOME_GLUTAMATE_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	3.29e-04	24	16	2	M630
Pathway	WP_GENETIC_CAUSES_OF_PORTOSINUSOIDAL_VASCULAR_DISEASE	DOCK6 NOTCH4	7.86e-04	37	16	2	M45513
Pathway	REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.49e-03	51	16	2	MM14499
Pathway	REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE	RIMS1 PPFIA4	1.49e-03	51	16	2	M4281
Pubmed	Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.	DUX4L2 DUX4 DUX5 DUX3 DUX1 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	1.28e-26	17	38	10	11245978
Pubmed	Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 DUX4L9	4.55e-22	12	38	8	10433963
Pubmed	Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 DUX4L9	1.18e-21	13	38	8	17668377
Pubmed	The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	8.27e-21	8	38	7	17588759
Pubmed	DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	1.24e-19	10	38	7	17984056
Pubmed	Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	1.77e-18	13	38	7	7739628
Pubmed	Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements.	DUX5 DUX1 DUX4L6	4.81e-09	4	38	3	9736770
Pubmed	Expression profiling of immature thymocytes revealed a novel homeobox gene that regulates double-negative thymocyte development.	DUX4L2 DUX4L4 DUX4L9	4.81e-09	4	38	3	17911620
Pubmed	Intracellular trafficking and dynamics of double homeodomain proteins.	DUX4 DUX5 DUX1	4.81e-09	4	38	3	15709750
Pubmed	The homeobox transcription factor DUXBL controls exit from totipotency.	DUX4L2 DUX4L4 DUX4L9	4.81e-09	4	38	3	38509386
Pubmed	Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl.	DUX4L2 DUX4L4 DUX4L9	1.20e-08	5	38	3	20063414
Pubmed	The transcription factor Duxbl mediates elimination of pre-T cells that fail β-selection.	DUX4L2 DUX4L4 DUX4L9	4.20e-08	7	38	3	30765463
Pubmed	Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins.	DUX4L2 DUX4L4 DUX4L9	5.43e-07	15	38	3	30071041
Pubmed	Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.	DUX4L2 DUX4L4 DUX4L9	5.43e-07	15	38	3	35727972
Pubmed	Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.	DUX4 DUX4L9	1.16e-06	2	38	2	24145033
Pubmed	DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.	DUX4 DUX4L9	6.96e-06	4	38	2	19829708
Pubmed	RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.	DUX4L2 DUX4	1.16e-05	5	38	2	19359275
Pubmed	DUX is a non-essential synchronizer of zygotic genome activation.	DUX4L2 DUX4L4 DUX4L9	2.28e-05	50	38	3	31806660
Pubmed	Wnt-4 signaling is involved in the control of smooth muscle cell fate via Bmp-4 in the medullary stroma of the developing kidney.	PTCH1 NOTCH4	3.24e-05	8	38	2	16546160
Pubmed	Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.	DUX4 DUX1 SRSF3 DUX4L9	2.16e-04	271	38	4	26816005
Pubmed	Temporomandibular joint formation requires two distinct hedgehog-dependent steps.	PTCH1 GDF6	2.41e-04	21	38	2	19815519
Pubmed	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	NOTCH4 PHRF1	2.41e-04	21	38	2	21408207
Pubmed	Extra-embryonic vasculature development is regulated by the transcription factor HAND1.	PTCH1 NOTCH4	4.32e-04	28	38	2	15073150
Pubmed	The synaptic vesicle cycle.	RIMS1 PPFIA4	5.30e-04	31	38	2	15217342
Pubmed	Host PDZ-containing proteins targeted by SARS-CoV-2.	RIMS1 TJP3	6.76e-04	35	38	2	33864728
Pubmed	Nephric duct insertion requires EphA4/EphA7 signaling from the pericloacal mesenchyme.	EFNB3 PTCH1	9.28e-04	41	38	2	25139858
Cytoband	Ensembl 112 genes in cytogenetic band chr4q35	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 DUX4L9	3.10e-14	117	35	8	chr4q35
Cytoband	4q35.2	DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	3.65e-14	27	35	6	4q35.2
Cytoband	11p15.5	C11orf21 PHRF1	3.69e-03	118	35	2	11p15.5
GeneFamily	PRD class homeoboxes and pseudogenes	DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 DUX4L9	1.61e-11	92	23	7	521
GeneFamily	PHD finger proteins	MTF2 PHRF1	5.79e-03	90	23	2	88
GeneFamily	PDZ domain containing	RIMS1 TJP3	1.58e-02	152	23	2	1220
Coexpression	NAKAYA_PLASMACYTOID_DENDRITIC_CELL_FLUMIST_AGE_18_50YO_7DY_DN	DUX4 DUX4L5 DUX4L6 PTGER1 DOCK6 DUX4L4 DUX4L7 KIAA1614	1.30e-05	909	33	8	M41018
Disease	microphthalmia (implicated_via_orthology)	MFRP GDF6	5.70e-05	12	28	2	DOID:10629 (implicated_via_orthology)
Disease	susceptibility to shingles measurement	ZBTB7C LINC01556 NOTCH4	6.21e-05	81	28	3	EFO_0008401
Disease	Squamous cell carcinoma	PTCH1 PTGER1 NOTCH4	2.20e-04	124	28	3	C0007137
Disease	squamous cell lung carcinoma	RIMS1 LINC01556 NOTCH4	5.08e-04	165	28	3	EFO_0000708
Disease	lung carcinoma	RIMS1 ZBTB7C LINC01556 NOTCH4	1.05e-03	482	28	4	EFO_0001071
Disease	Skin Neoplasms	PTCH1 NOTCH4	1.44e-03	59	28	2	C0037286
Disease	Malignant neoplasm of skin	PTCH1 NOTCH4	1.44e-03	59	28	2	C0007114
Disease	Inguinal hernia	ZBTB7C LINC01556 NOTCH4	2.49e-03	287	28	3	HP_0000023
Disease	orofacial cleft, sex interaction measurement	C11orf21 NOTCH4	3.02e-03	86	28	2	EFO_0008343, MONDO_0000358
Disease	susceptibility to plantar warts measurement	LINC01556 NOTCH4	3.30e-03	90	28	2	EFO_0008406

Protein segments in the cluster

Peptide	Gene	Start	Entry
RQHRRESRPWPGRRG	DUX4L4	76	P0CJ87
VRHRPGWGRGLHRRG	C19orf84	111	I3L1E1
RQHRRESRPWPGRRG	DUX4L6	76	P0CJ89
KRWGRRGRGLRHHPR	CCER1	141	Q8TC90
GLRRRKRPLSWRAHG	GRAMD1A	551	Q96CP6
GRSWPAAIPHLRRRR	MTF2	486	Q9Y483
AAGWPRSDRRARLPR	KIRREL3-AS3	161	Q8N7Y1
WHGRRPRGLRPDCRF	MFRP	51	Q9BY79
RQHRRESRPWPGRRG	DUX4	76	Q9UBX2
RRAPSWRKRFRPREH	PPFIA4	1116	O75335
QLRQHRRQSRPWPGR	DUX5	101	Q96PT3
RLRLRGSRPRGHRWS	KIAA1614	646	Q5VZ46
RQHRRESRPWPGRRG	DUX4L3	76	P0CJ86
RARWRRRSRRPPPAS	PTGER1	231	P34995
RAREHRRPRSREKWP	PHRF1	1171	Q9P1Y6
RLWNRLFHRPRAPRG	LRP3	606	O75074
RERGRWSPSLDRRRP	RIMS1	1131	Q86UR5
RRPAWTDRRRRGPQD	DOCK6	421	Q96HP0
RQHRRESRPWPGRRG	DUX4L9	76	Q6RFH8
QLRQHRRQSRPWPGR	DUX3	101	Q96PT4
RQHRRESRPWPGRRG	DUX4L7	76	P0CJ90
RQHRRQSRPWPGRRD	DUX1	76	O43812
RQHRRESRPWPGRRG	DUX4L5	76	P0CJ88
WRRRRAKPSESRHPG	EFNB3	251	Q15768
GRRDRERQRTPWAPH	LINC01556	21	Q5JQF7
DARPWLPSPGRRRRR	GDF6	321	Q6KF10
RIPGRQWIGKHRRPR	MRPL57	11	Q9BQC6
WRRAPLRRGVGSSPR	SLC9A6	6	Q92581
RARWGPRGARSHNPR	PTCH1	1336	Q13635
IRRRRREHGALWLPP	NOTCH4	1471	Q99466
RRRPGRRSAVPRWPH	C11orf21	11	Q9P2W6
APRPRAWRGSRRRSR	USP51	141	Q70EK9
AWRGSRRRSRPGSRP	USP51	146	Q70EK9
WGRRPRDDYRRRSPP	SRSF3	96	P84103
HGLRWRRCRSPRSEP	SCAF1	61	Q9H7N4
SWDERSRRPRPGRRG	TJP3	141	O95049
RPRRGRKPAAWRAAS	ZBTB7C	476	A1YPR0
RRGWPPHRTLRGHRN	WDR7	451	Q9Y4E6
RQHRRESRPWPGRRG	DUX4L2	76	P0CJ85