Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	POZ domain binding	ATXN1 ATXN1L	3.90e-05	5	40	2	GO:0031208
GeneOntologyCellularComponent	pituitary gonadotropin complex	CGB1 CGB3	1.10e-04	8	42	2	GO:0061696
Domain	AXH	ATXN1 ATXN1L	1.27e-05	3	39	2	SM00536
Domain	AXH	ATXN1 ATXN1L	1.27e-05	3	39	2	PF08517
Domain	AXH	ATXN1 ATXN1L	1.27e-05	3	39	2	PS51148
Domain	Ataxin_AXH_dom	ATXN1 ATXN1L	1.27e-05	3	39	2	IPR003652
Domain	Gonadotropin_bsu_CS	CGB1 CGB3	6.34e-05	6	39	2	IPR018245
Domain	Gonadotropin_bsu	CGB1 CGB3	8.86e-05	7	39	2	IPR001545
Domain	GLYCO_HORMONE_BETA_2	CGB1 CGB3	8.86e-05	7	39	2	PS00689
Domain	GHB	CGB1 CGB3	8.86e-05	7	39	2	SM00068
Domain	GLYCO_HORMONE_BETA_1	CGB1 CGB3	8.86e-05	7	39	2	PS00261
Domain	Glyco_hormone_CN	CGB1 CGB3	4.39e-04	15	39	2	IPR006208
Domain	Cys_knot	CGB1 CGB3	4.39e-04	15	39	2	PF00007
Domain	GDS_CDC24_CS	ARHGEF15 SOS2	3.00e-03	39	39	2	IPR001331
Domain	Ig_I-set	LRRN2 ADAMTSL1 ROR1	7.24e-03	190	39	3	IPR013098
Domain	I-set	LRRN2 ADAMTSL1 ROR1	7.24e-03	190	39	3	PF07679
Domain	DH_1	ARHGEF15 SOS2	7.66e-03	63	39	2	PS00741
Domain	-	CGB1 CGB3	8.62e-03	67	39	2	2.10.90.10
Domain	Cystine-knot_cytokine	CGB1 CGB3	8.62e-03	67	39	2	IPR029034
Domain	RhoGEF	ARHGEF15 SOS2	8.87e-03	68	39	2	SM00325
Domain	DH_2	ARHGEF15 SOS2	9.38e-03	70	39	2	PS50010
Domain	RhoGEF	ARHGEF15 SOS2	9.38e-03	70	39	2	PF00621
Domain	DH-domain	ARHGEF15 SOS2	9.64e-03	71	39	2	IPR000219
Domain	-	ARHGEF15 SOS2	9.64e-03	71	39	2	1.20.900.10
Pubmed	Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.	ATXN1 ATXN1L	1.49e-06	2	43	2	17322884
Pubmed	A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution.	NBPF10 NBPF19 NBPF20	2.31e-06	21	43	3	16079250
Pubmed	Molecular cloning, characterization and expression of thyroid-stimulating hormone receptor in channel catfish.	CGB1 CGB3	4.48e-06	3	43	2	19523396
Pubmed	Fine-scale quantification of HCG beta gene transcription in human trophoblastic and non-malignant non-trophoblastic tissues.	CGB1 CGB3	4.48e-06	3	43	2	18048458
Pubmed	Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.	ATXN1 ATXN1L	4.48e-06	3	43	2	20628574
Pubmed	Novel insights into the expression of CGB1 & 2 genes by epithelial cancer cell lines secreting ectopic free hCGβ.	CGB1 CGB3	4.48e-06	3	43	2	24778026
Pubmed	Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.	ATXN1 ATXN1L	8.94e-06	4	43	2	16121196
Pubmed	Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis.	ATXN1 ATXN1L	1.49e-05	5	43	2	32878998
Pubmed	Isolation and characterization of the human chorionic gonadotropin beta subunit (CG beta) gene cluster: regulation of transcriptionally active CG beta gene by cyclic AMP.	CGB1 CGB3	1.49e-05	5	43	2	2468994
Pubmed	Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway.	ATXN1 ATXN1L	1.49e-05	5	43	2	21475249
Pubmed	ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.	ATXN1 ATXN1L	1.49e-05	5	43	2	29526553
Pubmed	The beta subunit of human chorionic gonadotropin is encoded by multiple genes.	CGB1 CGB3	2.23e-05	6	43	2	6194155
Pubmed	Identification of the transcriptionally active genes of the chorionic gonadotropin beta gene cluster in vivo.	CGB1 CGB3	2.23e-05	6	43	2	1371113
Pubmed	The human genome contains seven genes for the beta-subunit of chorionic gonadotropin but only one gene for the beta-subunit of luteinizing hormone.	CGB1 CGB3	2.23e-05	6	43	2	6319099
Pubmed	The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19.	CGB1 CGB3	2.23e-05	6	43	2	6204923
Pubmed	A map of the hCG beta-LH beta gene cluster.	CGB1 CGB3	2.23e-05	6	43	2	2422163
Pubmed	Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone.	CGB1 CGB3	3.12e-05	7	43	2	6690982
Pubmed	Btbd11 supports cell-type-specific synaptic function.	ATXN1 ATXN1L	4.16e-05	8	43	2	37261953
Pubmed	Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.	LRP4 EFNB3 SCN8A	9.89e-05	72	43	3	25917818
Pubmed	Ephrin B1 maintains apical adhesion of neural progenitors.	FOXM1 EFNB3	1.35e-04	14	43	2	23578932
Pubmed	Mice lacking the orphan receptor ror1 have distinct skeletal abnormalities and are growth retarded.	CGB1 ROR1	2.26e-04	18	43	2	20593419
Pubmed	Loss of Foxm1 Results in Reduced Somatotrope Cell Number during Mouse Embryogenesis.	FOXM1 CGB1	2.26e-04	18	43	2	26075743
Pubmed	ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization.	ATXN1 ATXN1L	2.52e-04	19	43	2	22014525
Pubmed	E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.	BRME1 ATXN1L ROR1 RAI1 SCN8A SLPI	2.75e-04	736	43	6	29676528
Pubmed	Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.	ATXN1 ATXN1L	4.40e-04	25	43	2	28288114
Pubmed	Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring.	EFNB3 CDH12	4.76e-04	26	43	2	39152101
Pubmed	Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions.	FOXM1 ATXN1	5.53e-04	28	43	2	35942939
Pubmed	The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation.	ATXN1L DYNC2LI1 SOBP	8.88e-04	152	43	3	38360978
Pubmed	Interaction network of human early embryonic transcription factors.	ATXN1 ATXN1L SOBP RAI1	9.23e-04	351	43	4	38297188
Pubmed	Mutation of ARHGAP9 in patients with coronary spastic angina.	ARHGEF15 SOS2	1.02e-03	38	43	2	19911011
GeneFamily	Neuroblastoma breakpoint family	NBPF10 NBPF19 NBPF20	7.14e-06	23	30	3	662
GeneFamily	Blood group antigens\|CD molecules\|I-set domain containing\|Immunoglobulin like domain containing	LRRN2 ADAMTSL1 ROR1	2.36e-03	161	30	3	593
GeneFamily	Pleckstrin homology domain containing\|Rho guanine nucleotide exchange factors\|C2 domain containing	ARHGEF15 SOS2	5.34e-03	66	30	2	722
Disease	autosomal dominant cerebellar ataxia (implicated_via_orthology)	ATXN1 ATXN1L	1.11e-04	12	39	2	DOID:1441 (implicated_via_orthology)
Disease	Mental Retardation, Psychosocial	WDR62 RAI1 SCN8A	8.26e-04	139	39	3	C0025363
Disease	Profound Mental Retardation	WDR62 RAI1 SCN8A	8.26e-04	139	39	3	C0020796
Disease	Mental deficiency	WDR62 RAI1 SCN8A	8.26e-04	139	39	3	C0917816
Disease	neuroticism measurement, cognitive function measurement	ZCCHC14 PCDHA3 SCAP CDH12 RAI1	8.57e-04	566	39	5	EFO_0007660, EFO_0008354
Disease	Ataxia, Spinocerebellar	ATXN1 ATXN1L	9.30e-04	34	39	2	C0087012
Disease	Spinocerebellar Ataxia Type 2	ATXN1 ATXN1L	9.30e-04	34	39	2	C0752121
Disease	Spinocerebellar Ataxia Type 1	ATXN1 ATXN1L	9.30e-04	34	39	2	C0752120
Disease	Spinocerebellar Ataxia Type 5	ATXN1 ATXN1L	9.30e-04	34	39	2	C0752123
Disease	Spinocerebellar Ataxia Type 7	ATXN1 ATXN1L	9.30e-04	34	39	2	C0752125
Disease	Spinocerebellar Ataxia Type 6 (disorder)	ATXN1 ATXN1L	9.30e-04	34	39	2	C0752124
Disease	Spinocerebellar Ataxia Type 4	ATXN1 ATXN1L	9.85e-04	35	39	2	C0752122
Disease	testosterone measurement	FOXM1 EFNB3 ARHGEF15 RAI1 CGB3 IFNAR2 SOS2	1.26e-03	1275	39	7	EFO_0004908

Protein segments in the cluster

Peptide	Gene	Start	Entry
SKEPLRPRCRPINAT	CGB1	51	A6NKQ9
RRLQSLPKCERLPLP	ARHGEF15	536	O94989
ERSNECLPPKKREIP	ATXN1	6	P54253
DPRARPPKALLAERA	DENND1C	746	Q8IV53
EDSPCRAPVLPKDLL	RAI1	1011	Q7Z5J4
KPDRALPIDRPNTLD	ARHGAP36	81	Q6ZRI8
LPPCPISRDREEKQD	PCDHA3	776	Q9Y5H8
LCAEPPDLQRLPVRE	LRRN2	396	O75325
ERSQECLPPKKRDLP	ATXN1L	6	P0C7T5
CLDRDEPPKPTLALE	DYNC2LI1	51	Q8TCX1
SRRPPQLLKSCNLDP	ADAMTSL1	651	Q8N6G6
ERSSLLPRLDKPCPA	NOL6	716	Q9H6R4
QKPIEPRRELLTQPC	HSH2D	111	Q96JZ2
PRRELLTQPCRQKDP	HSH2D	116	Q96JZ2
LSGPCERRKSPLQDP	IFNAR2	391	P48551
GSPCRLLRQPEKEPA	BRME1	76	Q0VDD7
KTFGIRRPLDPLDPC	B3GNT4	326	Q9C0J1
SKEPLRPRCRPINAT	CGB3	21	P0DN86
RKQHLLPPCVDEPEL	FOXM1	546	Q08050
PRCLSQPSERPKFLD	KIAA1210	1051	Q9ULL0
RDIKPDSLCLPRQRP	CDH12	691	P55289
PENRCVLKDLDRLPT	ERMARD	491	Q5T6L9
PAPNLLLTCDRPDLD	EFNB3	96	Q15768
DLNKRLPPEACLPSA	SCAP	451	Q12770
KDLSDRPLPERRSPN	SPX	61	Q9BT56
CLQREDPSLKVRLDP	GFM2	511	Q969S9
SLEIEPRNCKQPPRF	SOS2	1011	Q07890
KCLDPVDTPNPTRRK	SLPI	71	P03973
QDPPCPRLSRELLEV	NBPF10	1006	Q6P3W6
NPPCPRLSRELLEEK	NBPF10	1101	Q6P3W6
PCPRLSRELLDEKGP	NBPF10	1591	Q6P3W6
NPPCPRLSRELLDEK	NBPF10	2321	Q6P3W6
PPCPRLSRELLDEKG	NBPF10	2566	Q6P3W6
PCPRLSRELLDEKGP	NBPF10	2811	Q6P3W6
DQDPPCPRLSRELLE	NBPF10	3201	Q6P3W6
NPPCPRLSRELLDEK	NBPF10	3541	Q6P3W6
NPPCPRLSRELLDEK	NBPF19	586	A0A087WUL8
PPCPRLSRELLDEKG	NBPF19	831	A0A087WUL8
PCPRLSRELLDEKGP	NBPF19	1076	A0A087WUL8
QDPPCPRLSRELLEV	NBPF19	1711	A0A087WUL8
NPPCPRLSRELLDEK	NBPF19	1806	A0A087WUL8
PPCPRLSRELLDEKG	NBPF19	2051	A0A087WUL8
PCPRLSRELLDEKGP	NBPF19	2296	A0A087WUL8
NPPCPRLSRELLDEK	NBPF19	3026	A0A087WUL8
PPCPRLSRELLDEKG	NBPF19	3271	A0A087WUL8
PCPRLSRELLDEKGP	NBPF19	3516	A0A087WUL8
NPPCPRLSRELLDEK	NBPF20	486	P0DPF2
PPCPRLSRELLDEKG	NBPF20	731	P0DPF2
PCPRLSRELLDEKGP	NBPF20	976	P0DPF2
QTPPCPRLSRELLDE	NBPF20	1461	P0DPF2
NPPCPRLSRELLDEK	NBPF20	1706	P0DPF2
PPCPRLSRELLDEKG	NBPF20	1951	P0DPF2
PCPRLSRELLDEKGP	NBPF20	2196	P0DPF2
NPPCPRLSRELLDEK	NBPF20	2926	P0DPF2
PPCPRLSRELLDEKG	NBPF20	3171	P0DPF2
PCPRLSRELLDEKGP	NBPF20	3416	P0DPF2
CLQSPRLPAKEDKEP	PPARGC1B	236	Q86YN6
FRAPVKDDQPRPLVC	WHAMM	676	Q8TF30
RKLCERPLASSPPRL	AKAP3	626	O75969
PKELRLALPPCLLNR	C11orf87	6	Q6NUJ2
RLKLPNCEDLPQPES	ROR1	276	Q01973
EDKVRIPRNSPLPNC	TJAP1	336	Q5JTD0
SAGPEDLEPPLKRRC	SOBP	851	A7XYQ1
LLPILNRPPDCSLDK	SCN8A	1711	Q9UQD0
DSQELPKDPRKCIRP	UBE2U	156	Q5VVX9
DPDPRCLLTNGKLPL	WDR62	821	O43379
EKSERRCLNPSAPPL	ZCCHC14	356	Q8WYQ9
QLRCDRDERPPPAKL	nan	266	Q8N9G6
NRNCKRPRELESPVP	TEX12	11	Q9BXU0
LRPDRRSCKALGPEP	LRP4	426	O75096