Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyBiologicalProcess	T cell differentiation	DUX4L2 SH2B3 DUX4L4 MEN1 DUX4L9	8.31e-05	382	25	5	GO:0030217
GeneOntologyBiologicalProcess	regulation of T cell differentiation	DUX4L2 SH2B3 DUX4L4 DUX4L9	1.48e-04	226	25	4	GO:0045580
GeneOntologyBiologicalProcess	T cell activation	TNFRSF13C DUX4L2 SH2B3 DUX4L4 MEN1 DUX4L9	1.54e-04	701	25	6	GO:0042110
GeneOntologyBiologicalProcess	regulation of T cell activation	TNFRSF13C DUX4L2 SH2B3 DUX4L4 DUX4L9	1.94e-04	458	25	5	GO:0050863
Domain	PDZ	HTRA2 PDZRN4	1.29e-02	141	23	2	PF00595
Domain	PDZ	HTRA2 PDZRN4	1.41e-02	148	23	2	SM00228
Domain	-	HTRA2 PDZRN4	1.45e-02	150	23	2	2.30.42.10
Domain	PDZ	HTRA2 PDZRN4	1.47e-02	151	23	2	PS50106
Domain	PDZ	HTRA2 PDZRN4	1.49e-02	152	23	2	IPR001478
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	9.79e-23	12	32	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	2.54e-22	13	32	8	17668377
Pubmed	The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	2.20e-21	8	32	7	17588759
Pubmed	DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	3.30e-20	10	32	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	4.71e-19	13	32	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	5.33e-18	17	32	7	11245978
Pubmed	The homeobox transcription factor DUXBL controls exit from totipotency.	DUX4L2 DUX4L4 DUX4L9	2.83e-09	4	32	3	38509386
Pubmed	Expression profiling of immature thymocytes revealed a novel homeobox gene that regulates double-negative thymocyte development.	DUX4L2 DUX4L4 DUX4L9	2.83e-09	4	32	3	17911620
Pubmed	Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl.	DUX4L2 DUX4L4 DUX4L9	7.07e-09	5	32	3	20063414
Pubmed	The transcription factor Duxbl mediates elimination of pre-T cells that fail β-selection.	DUX4L2 DUX4L4 DUX4L9	2.47e-08	7	32	3	30765463
Pubmed	Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins.	DUX4L2 DUX4L4 DUX4L9	3.19e-07	15	32	3	30071041
Pubmed	Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.	DUX4L2 DUX4L4 DUX4L9	3.19e-07	15	32	3	35727972
Pubmed	Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.	DUX4 DUX4L9	8.20e-07	2	32	2	24145033
Pubmed	DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.	DUX4 DUX4L9	4.92e-06	4	32	2	19829708
Pubmed	RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.	DUX4L2 DUX4	8.19e-06	5	32	2	19359275
Pubmed	MLL2, Not MLL1, Plays a Major Role in Sustaining MLL-Rearranged Acute Myeloid Leukemia.	KMT2B MEN1	8.19e-06	5	32	2	28609655
Pubmed	MLL associates specifically with a subset of transcriptionally active target genes.	KMT2B MEN1	1.23e-05	6	32	2	16199523
Pubmed	DUX is a non-essential synchronizer of zygotic genome activation.	DUX4L2 DUX4L4 DUX4L9	1.35e-05	50	32	3	31806660
Pubmed	Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus.	KMT2B MEN1	5.38e-05	12	32	2	17707229
Pubmed	PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.	KMT2B MEN1	1.24e-04	18	32	2	17500065
Pubmed	Structural basis for activity regulation of MLL family methyltransferases.	KMT2B MEN1	1.87e-04	22	32	2	26886794
Pubmed	Developmental gene expression profiling along the tonotopic axis of the mouse cochlea.	KCNQ1 PDZRN4	3.05e-04	28	32	2	22808246
Pubmed	A dual-activity topoisomerase complex regulates mRNA translation and turnover.	TAOK2 LRP3 KMT2B SH2B3 BAHD1 TMEM158	4.53e-04	1105	32	6	35748872
Cytoband	Ensembl 112 genes in cytogenetic band chr4q35	DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 DUX4L9	1.39e-14	117	32	8	chr4q35
Cytoband	4q35.2	DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7	2.04e-14	27	32	6	4q35.2
Cytoband	11p15.5	C11orf21 KCNQ1	3.09e-03	118	32	2	11p15.5
GeneFamily	PRD class homeoboxes and pseudogenes	DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 DUX4L9	5.14e-12	92	20	7	521
GeneFamily	PDZ domain containing	HTRA2 PDZRN4	1.21e-02	152	20	2	1220
ToppCell	COVID\|World / Condition, Cell_class and T cell subcluster	LRP3 KCNQ1 SLC15A3 SRRM2	5.25e-06	200	26	4	04a932fe2431e7886120c219ce666f90d3030a1c
Disease	autosomal dominant intellectual developmental disorder (is_implicated_in)	KMT2B SRRM2	1.01e-04	17	26	2	DOID:0060307 (is_implicated_in)
Disease	rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement	C11orf21 KMT2B SH2B3	4.43e-04	170	26	3	EFO_0000685, EFO_0007791, EFO_0007837
Disease	type 1 diabetes mellitus	KCNQ1 SLC15A3 SH2B3	1.23e-03	242	26	3	MONDO_0005147
Disease	Precursor Cell Lymphoblastic Leukemia Lymphoma	DUX4 SH2B3	1.32e-03	61	26	2	C1961102
Disease	Dystonia	PANK2 KMT2B	2.61e-03	86	26	2	C0013421

Protein segments in the cluster

Peptide	Gene	Start	Entry
RTGWRGAIPLRWRNR	LINC00114	26	Q6XXX2
RGRGRRRRLVWTPSQ	DUX4L4	16	P0CJ87
RRPQVEWRRRRWGPG	BCL2L12	66	Q9HB09
RGRGRRRRLVWTPSQ	DUX4L6	16	P0CJ89
RGRGPGPRVLAWRRR	PDZRN4	156	Q6ZMN7
WGEEAREGRRRGPRR	MEN1	476	O00255
ERKRWGWGRLPGARR	KCNQ1	11	P51787
RGRGRRRRLVWTPSQ	DUX4	16	Q9UBX2
LWARPRRARQARRVG	GPR162	206	Q16538
RGRGRRRRLVWTPSQ	DUX4L3	16	P0CJ86
RIFRWGPRRRRQGSR	INHBE	141	P58166
RRGPSRRRLGRLWNR	LRP3	596	O75074
GLRRLRRLWAGPRVQ	KMT2B	76	Q9UMN6
RRLWAGPRVQRGRGR	KMT2B	81	Q9UMN6
RWRPERLLRRQRAGG	GID4	26	Q8IVV7
ARWRNGRGGRPRARL	PANK2	81	Q9BZ23
AWRALGGIRWGRRPR	HTRA2	16	O43464
LWGRGARPEVAGRRR	DNLZ	26	Q5SXM8
RGRGRRRRLVWTPSQ	DUX4L9	16	Q6RFH8
RRRRRRRTNGWVPVG	BAHD1	581	Q8TBE0
RGRGRRRRLVWTPSQ	DUX4L7	16	P0CJ90
RRAWPRRRRRLQQVG	MTARC2	41	Q969Z3
RGRGRRRRLVWTPSQ	DUX4L5	16	P0CJ88
PRGARGPRRWRRAAG	SLC15A3	21	Q8IY34
RWGRFAKGRGRRPVK	GARIN3	101	Q8TC56
RWGRSRSPQRRGRSR	SRRM2	521	Q9UQ35
MARRGWRRAPLRRGV	SLC9A6	1	Q92581
GGRWVRQQGPRVRRG	TAOK2	1066	Q9UL54
RQQGPRVRRGISRLW	TAOK2	1071	Q9UL54
CGMWRRRRPGRRSAV	C11orf21	6	Q9P2W6
GTKTRGRGRRRWEAR	nan	36	Q8NFD4
CGWVRGRRTGRLRPA	TMEM158	146	Q8WZ71
RWQRGRLALRRAPGP	SH2B3	216	Q9UQQ2
VGLVSWRRRQRRLRG	TNFRSF13C	96	Q96RJ3
RGRGRRRRLVWTPSQ	DUX4L2	16	P0CJ85