Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	histone H3 methyltransferase activity	DOT1L KMT2E ASH2L	3.13e-04	44	60	3	GO:0140938
GeneOntologyMolecularFunction	RNA polymerase II transcription regulatory region sequence-specific DNA binding	HOXA4 HOXC13 NFATC4 HELT TBX21 DUX4L9 DUX4L2 RFX6 DUX4 ZBTB7B DUX4L4 TET3 ZNF710	3.24e-04	1459	60	13	GO:0000977
GeneOntologyBiologicalProcess	positive regulation of transcription by RNA polymerase II	HOXA4 HOXC13 NFATC4 HELT TBX21 SMARCA1 RFX6 DUX4 RAD54L2 DOT1L ZBTB7B TET3 ASH2L PLSCR1 SBNO2	7.40e-06	1390	60	15	GO:0045944
Domain	CUB	NETO2 CUBN MFRP	3.83e-04	49	54	3	PF00431
Domain	CUB	NETO2 CUBN MFRP	4.07e-04	50	54	3	SM00042
Domain	-	NETO2 CUBN MFRP	4.57e-04	52	54	3	2.60.120.290
Domain	CUB	NETO2 CUBN MFRP	4.83e-04	53	54	3	PS01180
Domain	CUB_dom	NETO2 CUBN MFRP	5.99e-04	57	54	3	IPR000859
Domain	SH3_1	SORBS2 ARHGEF9 DLG2 SNX33	1.29e-03	164	54	4	PF00018
Domain	SH3_2	SORBS2 ARHGEF9 DLG2	1.97e-03	86	54	3	IPR011511
Domain	SH3_2	SORBS2 ARHGEF9 DLG2	1.97e-03	86	54	3	PF07653
Domain	SH3	SORBS2 ARHGEF9 DLG2 SNX33	3.50e-03	216	54	4	SM00326
Domain	SH3	SORBS2 ARHGEF9 DLG2 SNX33	3.50e-03	216	54	4	PS50002
Domain	SH3_domain	SORBS2 ARHGEF9 DLG2 SNX33	3.74e-03	220	54	4	IPR001452
Domain	SNF2_N	SMARCA1 RAD54L2	3.85e-03	32	54	2	IPR000330
Domain	SNF2_N	SMARCA1 RAD54L2	3.85e-03	32	54	2	PF00176
Domain	LDLR_class-A_CS	NETO2 MFRP	5.97e-03	40	54	2	IPR023415
Domain	-	ZC3H10 RBM27	5.97e-03	40	54	2	4.10.1000.10
Domain	Ldl_recept_a	NETO2 MFRP	7.50e-03	45	54	2	PF00057
Domain	-	NETO2 MFRP	7.83e-03	46	54	2	4.10.400.10
Domain	LDLRA_1	NETO2 MFRP	8.50e-03	48	54	2	PS01209
Domain	zf-CCCH	ZC3H10 RBM27	8.85e-03	49	54	2	PF00642
Domain	LDLRA_2	NETO2 MFRP	8.85e-03	49	54	2	PS50068
Domain	LDrepeatLR_classA_rpt	NETO2 MFRP	8.85e-03	49	54	2	IPR002172
Domain	LDLa	NETO2 MFRP	8.85e-03	49	54	2	SM00192
Domain	-	HOXA4 HOXC13 SMARCA1 DUX4	9.01e-03	283	54	4	1.10.10.60
Domain	p53-like_TF_DNA-bd	NFATC4 TBX21	1.03e-02	53	54	2	IPR008967
Pubmed	Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.	DUX4L9 DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	5.33e-20	12	66	8	10433963
Pubmed	Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.	DUX4L9 DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	1.38e-19	13	66	8	17668377
Pubmed	The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	5.10e-19	8	66	7	17588759
Pubmed	DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	7.62e-18	10	66	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	1.09e-16	13	66	7	7739628
Pubmed	Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	1.22e-15	17	66	7	11245978
Pubmed	The homeobox transcription factor DUXBL controls exit from totipotency.	DUX4L9 DUX4L2 DUX4L4	2.61e-08	4	66	3	38509386
Pubmed	Expression profiling of immature thymocytes revealed a novel homeobox gene that regulates double-negative thymocyte development.	DUX4L9 DUX4L2 DUX4L4	2.61e-08	4	66	3	17911620
Pubmed	Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl.	DUX4L9 DUX4L2 DUX4L4	6.51e-08	5	66	3	20063414
Pubmed	The transcription factor Duxbl mediates elimination of pre-T cells that fail β-selection.	DUX4L9 DUX4L2 DUX4L4	2.27e-07	7	66	3	30765463
Pubmed	Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.	DUX4L9 DUX4L2 DUX4L4	2.92e-06	15	66	3	35727972
Pubmed	Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins.	DUX4L9 DUX4L2 DUX4L4	2.92e-06	15	66	3	30071041
Pubmed	Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.	DUX4L9 DUX4	3.55e-06	2	66	2	24145033
Pubmed	MicroRNA-628-5p inhibits invasion and migration of human pancreatic ductal adenocarcinoma via suppression of the AKT/NF-kappa B pathway.	IRS1 PLSCR1	1.06e-05	3	66	2	31957029
Pubmed	Dot1l interacts with Zc3h10 to activate Ucp1 and other thermogenic genes.	ZC3H10 DOT1L	1.06e-05	3	66	2	33107819
Pubmed	The Methyltransferase DOT1L Controls Activation and Lineage Integrity in CD4+ T Cells during Infection and Inflammation.	TBX21 DOT1L	1.06e-05	3	66	2	33326781
Pubmed	Comparative immunolocalization of the elastin fiber-associated proteins fibrillin-1, LTBP-2, and MAGP-1 with components of the collagenous and proteoglycan matrix of the fetal human intervertebral disc.	MFAP2 LTBP2	2.12e-05	4	66	2	21540769
Pubmed	DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.	DUX4L9 DUX4	2.12e-05	4	66	2	19829708
Pubmed	An inducible CRISPR/Cas9 screen identifies DTX2 as a transcriptional regulator of human telomerase.	CHERP RBM27 SEC16A NUP58 RAD54L2	2.43e-05	180	66	5	35198878
Pubmed	RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.	DUX4L2 DUX4	3.53e-05	5	66	2	19359275
Pubmed	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	MFAP2 NFATC4 LTBP2 DOT1L LRRC37B	3.83e-05	198	66	5	20881960
Pubmed	TET1 contributes to neurogenesis onset time during fetal brain development in mice.	RBFOX3 TET3	5.29e-05	6	66	2	26902115
Pubmed	Newly recruited intraepithelial Ly6A+CCR9+CD4+ T cells protect against enteric viral infection.	TBX21 ZBTB7B	5.29e-05	6	66	2	35617965
Pubmed	Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.	MFAP2 LTBP2	5.29e-05	6	66	2	19182256
Pubmed	Interaction network of human early embryonic transcription factors.	SEC16A SMARCA1 PROSER1 NUP58 RAD54L2 ASH2L	5.53e-05	351	66	6	38297188
Pubmed	Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets.	HOXC13 DUX4 KMT2E CCDC17 TET3	8.28e-05	233	66	5	37704626
Pubmed	Developmental DNA demethylation is a determinant of neural stem cell identity and gliogenic competence.	RBFOX3 TET3	9.86e-05	8	66	2	39196941
Pubmed	DUX is a non-essential synchronizer of zygotic genome activation.	DUX4L9 DUX4L2 DUX4L4	1.20e-04	50	66	3	31806660
Pubmed	Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.	ARHGEF9 NUP58 TET3	1.35e-04	52	66	3	9455477
Pubmed	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	ZC3H10 SORBS2 DNAH17 IL22RA1 UST	1.51e-04	265	66	5	19240061
Pubmed	Comparison of chemical carcinogen skin tumor induction efficacy in inbred, mutant, and hybrid strains of mice: morphologic variations of induced tumors and absence of a papillomavirus cocarcinogen.	HOXC13 LYST	1.58e-04	10	66	2	9328433
Pubmed	Nuclear factor of activated T cells (NFATc4) is required for BDNF-dependent survival of adult-born neurons and spatial memory formation in the hippocampus.	RBFOX3 NFATC4	2.31e-04	12	66	2	22586092
Pubmed	A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.	RBFOX3 IRS1	2.73e-04	13	66	2	19357198
Pubmed	Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.	PROSER1 ASH2L	2.73e-04	13	66	2	17761849
Pubmed	Tag1 deficiency results in olfactory dysfunction through impaired migration of mitral cells.	RBFOX3 TBX21	2.73e-04	13	66	2	26525675
Pubmed	Ten-eleven translocation 1 mediated-DNA hydroxymethylation is required for myelination and remyelination in the mouse brain.	RBFOX3 TET3	4.18e-04	16	66	2	34429415
Pubmed	Hairy/Enhancer-of-Split MEGANE and Proneural MASH1 Factors Cooperate Synergistically in Midbrain GABAergic Neurogenesis.	RBFOX3 HELT	4.18e-04	16	66	2	25993409
Pubmed	Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase.	SORBS2 PLSCR1	4.74e-04	17	66	2	12023963
Pubmed	Chromatin boundaries require functional collaboration between the hSET1 and NURF complexes.	SMARCA1 ASH2L	4.74e-04	17	66	2	21653943
Pubmed	Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones.	SHE DOT1L	4.74e-04	17	66	2	12693554
Pubmed	USF1 recruits histone modification complexes and is critical for maintenance of a chromatin barrier.	SMARCA1 ASH2L	5.32e-04	18	66	2	17846119
Pubmed	Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus.	RBFOX3 HELT	5.94e-04	19	66	2	16968817
Pubmed	Analysis of interaction partners for eukaryotic translation elongation factor 1A M-domain by functional proteomics.	SORBS2 DNAH17	6.59e-04	20	66	2	21689717
Pubmed	Snf2h Drives Chromatin Remodeling to Prime Upper Layer Cortical Neuron Development.	RBFOX3 SMARCA1	7.28e-04	21	66	2	31680852
Pubmed	Independent regulation of vertebral number and vertebral identity by microRNA-196 paralogs.	HOXA4 HOXC13	7.99e-04	22	66	2	26283362
Pubmed	Structural basis for activity regulation of MLL family methyltransferases.	KMT2E ASH2L	7.99e-04	22	66	2	26886794
Pubmed	Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst.	ZC3H10 DUX4L9 DUX4L2 DZIP1 ZBTB7B DUX4L4 ZNF710	8.44e-04	808	66	7	20412781
Pubmed	Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation.	RBFOX3 SMARCA1	9.53e-04	24	66	2	24946904
Pubmed	Rheb1 is required for mTORC1 and myelination in postnatal brain development.	RBFOX3 IRS1	1.03e-03	25	66	2	21238928
Pubmed	SALM4 suppresses excitatory synapse development by cis-inhibiting trans-synaptic SALM3-LAR adhesion.	RBFOX3 DLG2	1.03e-03	25	66	2	27480238
Pubmed	Identification of preferred protein interactions by phage-display of the human Src homology-3 proteome.	SORBS2 SNX33	1.03e-03	25	66	2	16374509
Pubmed	Fine mapping of human HOX gene clusters.	HOXA4 HOXC13	1.12e-03	26	66	2	8646877
Pubmed	Zeb1 controls neuron differentiation and germinal zone exit by a mesenchymal-epithelial-like transition.	RBFOX3 DLG2	1.21e-03	27	66	2	27178982
Pubmed	Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development.	RBFOX3 NETO2	1.30e-03	28	66	2	38324473
Pubmed	An atlas of combinatorial transcriptional regulation in mouse and man.	HOXA4 HOXC13 NFATC4 TBX21 SMARCA1 ZBTB7B ASH2L	1.35e-03	877	66	7	20211142
Pubmed	Proteome-scale mapping of binding sites in the unstructured regions of the human proteome.	PRRG2 NFATC4 TMEM151B RAD54L2 KMT2E	1.36e-03	430	66	5	35044719
Pubmed	PlexinA1 signaling directs the segregation of proprioceptive sensory axons in the developing spinal cord.	RBFOX3 NETO2 CUBN	1.45e-03	117	66	3	17145500
Pubmed	A dynamic expression survey identifies transcription factors relevant in mouse digestive tract development.	HOXA4 HOXC13 CUBN	1.49e-03	118	66	3	16971476
Pubmed	The autophagy-inducing kinases, ULK1 and ULK2, regulate axon guidance in the developing mouse forebrain via a noncanonical pathway.	RBFOX3 SEC16A	1.59e-03	31	66	2	29099309
Pubmed	DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169.	SEC16A IRS1 RAD54L2	1.64e-03	122	66	3	30773093
Interaction	DTX2 interactions	CHERP TMEM42 RBM27 SEC16A RFX6 NUP58 RAD54L2 ZBTB7B PLSCR1	5.39e-07	330	60	9	int:DTX2
Cytoband	Ensembl 112 genes in cytogenetic band chr4q35	SORBS2 HELT DUX4L9 DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	1.46e-15	117	66	10	chr4q35
Cytoband	4q35.2	DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	2.02e-12	27	66	6	4q35.2
Cytoband	4q35.1	SORBS2 HELT	1.24e-03	36	66	2	4q35.1
GeneFamily	PRD class homeoboxes and pseudogenes	DUX4L9 DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	3.19e-09	92	46	7	521
GeneFamily	Protein tyrosine phosphatases, receptor type	PTPRK PTPRQ	1.29e-03	21	46	2	813
GeneFamily	Zinc fingers C2H2-type\|Lysine methyltransferases\|PR/SET domain family	DOT1L KMT2E	3.37e-03	34	46	2	487
GeneFamily	Zinc fingers CCCH-type	ZC3H10 RBM27	3.57e-03	35	46	2	73
Disease	melanoma	PTPRK DLG2 RFX6 MAGEC1 CUBN	1.51e-04	248	60	5	C0025202
Disease	leukemia (implicated_via_orthology)	HOXA4 DOT1L	6.80e-04	19	60	2	DOID:1240 (implicated_via_orthology)
Disease	uterine fibroid measurement	SORBS2 PTPRK	1.59e-03	29	60	2	EFO_0009410
Disease	chronic obstructive pulmonary disease	MFAP2 RBFOX3 DLG2 RFX6 DOT1L LRRC37B	2.70e-03	688	60	6	EFO_0000341
Disease	FEV/FEC ratio	MFAP2 RBFOX3 RFX6 LTBP2 SNX33 LRRC37B CCDC17 FAM83H	3.29e-03	1228	60	8	EFO_0004713
Disease	autistic disorder (is_implicated_in)	KCNQ3 KMT2E	3.32e-03	42	60	2	DOID:12849 (is_implicated_in)

Protein segments in the cluster

Peptide	Gene	Start	Entry
ALPGHAESYNPPPEY	BOP1	306	Q14137
EINPASVHEYQYPPP	CCDC17	556	Q96LX7
YAAPAPPDGALSHPQ	DUX4L4	241	P0CJ87
YAAPAPPDGALSHPQ	DUX4L6	241	P0CJ89
DAYRSPHSPFYQLPP	DOT1L	451	Q8TEK3
HLPAPVQPYEHGYPV	RAD54L2	1276	Q9Y4B4
PDTYRGPYREDHPNP	PHYKPL	171	Q8IUZ5
PSYPPPQDPLNHGQY	ARHGEF9	466	O43307
YRYILAEPDPHAPDP	ASH2L	341	Q9UBL3
PDTYEPDGYNPEAPS	RBM27	481	Q9P2N5
YPEPIYPTLPQANHD	RFX6	681	Q8HWS3
EYAPPPPHPTQDYSG	RBFOX3	21	A6NFN3
DQPPPPSYIYGAQHL	MSL3P1	366	P0C860
SSPNYPDPYPPNTHC	MFRP	156	Q9BY79
LYLNGYNEPGPDEPP	MUC16	14036	Q8WXI7
DLPNHNPQAYYSPDP	ABCC10	576	Q5T3U5
PEPDFSYQLHPAGPE	HELT	141	A6NFD8
PHYFPQSPPQGEDSL	MAGEC1	561	O60732
YAAPAPPDGALSHPQ	DUX4	241	Q9UBX2
PGPPPYGHDHEMEYC	CYYR1	111	Q96J86
NYSETGPPEPPYSFH	KCNQ3	686	O43525
YAAPAPPDGALSHPQ	DUX4L3	241	P0CJ86
SHPETNLPVGYPPQY	PLSCR1	11	O15162
GDQPPPPSYIYGAQH	MSL3	441	Q8N5Y2
YADHNYGARPPPTPP	KMT2E	61	Q8IZD2
HAPAPPAAPGDFDYL	LRRC37B	61	Q96QE4
PKHQPLPESPGYTYQ	LRRC63	176	Q05C16
PSDCYYGPEDPQHKP	IRS1	746	P35568
PEGAPSDPPKDVYYA	PTPRQ	986	Q9UMZ3
LESYPAQPDGFPSYP	PROSER1	911	Q86XN7
APSGEIHSPNYPSPY	CUBN	1516	O60494
EGIFNSPGYPDIYPP	CUBN	1746	O60494
YHPDRYRPQPGDEGP	DNAJC25	76	Q9H1X3
PYPHRFDYPQGDFPA	CHERP	566	Q8IWX8
PPESPYLYGLHPNAE	DNAH17	4146	Q9UFH2
YAAPAPPDGALSHPQ	DUX4L9	241	Q6RFH8
YAAPAPPDGALSHPQ	DUX4L7	241	P0CJ90
EDDPMPPVQPYHYGS	LYST	3221	Q99698
PDDLHYSIYGPDGAP	LTBP2	1661	Q14767
AYHPGDKYPEPSGAL	HOXC13	146	P31276
YAPNAAPEVGPPSYA	IL22RA1	351	Q8N6P7
DPYGPPDITHSYSPP	DLG2	286	Q15700
YAAPAPPDGALSHPQ	DUX4L5	241	P0CJ88
GDNPLAPGYLPPHYK	FAM83H	11	Q6ZRV2
EPAYPAAALYPAHGA	HOXA4	81	Q00056
YDLDPLPPFPDHVQY	MFAP2	21	P55001
TPPGLQHEYAAPADY	NUP58	331	Q9BVL2
APYYFAAELPPGNLP	PTPRK	666	Q15262
FEKEGPHYTPPIPNY	MRPL40	171	Q9NQ50
NHPYLFDGAEPGPPY	SMARCA1	461	P28370
EEEAGPPPPYHDALY	TMEM151B	521	Q8IW70
PYPSYPHEDPACETP	NFATC4	721	Q14934
PPLNLSYPGAYPSQH	SNX33	141	Q8WV41
DYPQHEPPPAGSLLY	SBNO2	11	Q9Y2G9
HFASPNYPDSYPPNK	NETO2	56	Q8NC67
KHVYYPLASGPEGPD	DZIP1	16	Q86YF9
DYPDPPIPHSYSSDR	SORBS2	1006	O94875
YLGNSTYLDDHGPPP	UST	81	Q9Y2C2
ASPPEGPQSYEPYEG	ZBTB7B	261	O15156
ALAPGPPPQDLAAYY	SEC16A	1146	O15027
ALAASGVHDAPPPPY	PRRG2	181	O14669
ELNVAPYDPHFPAPA	ZNF710	181	Q8N1W2
HQQPAYPGPKEYLLP	TET3	1356	O43151
AYPDTPAEFPPHLQA	TMEM42	16	Q69YG0
PPDGPHFESYEYSLA	ZC3H10	216	Q96K80
PPQLYDTPYEPAEGG	SHE	286	Q5VZ18
APGADPQHRYFYPEP	TBX21	26	Q9UL17
YAAPAPPDGALSHPQ	DUX4L2	241	P0CJ85