Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyCellularComponent	9+0 non-motile cilium	SPTBN5 RPGRIP1 SMO OCRL	2.26e-04	153	41	4	GO:0097731
GeneOntologyCellularComponent	ciliary transition zone	SPTBN5 RPGRIP1 TCTN2	5.37e-04	81	41	3	GO:0035869
GeneOntologyCellularComponent	non-motile cilium	SPTBN5 RPGRIP1 SMO OCRL	5.79e-04	196	41	4	GO:0097730
HumanPheno	Occipital encephalocele	POMT2 SMO GMPPB TCTN2	2.50e-06	38	14	4	HP:0002085
HumanPheno	Cephalocele	POMT2 RPGRIP1 SMO GMPPB TCTN2	1.13e-05	120	14	5	HP:0011815
HumanPheno	Encephalocele	POMT2 RPGRIP1 SMO GMPPB TCTN2	1.13e-05	120	14	5	HP:0002084
HumanPheno	Holoprosencephaly	POMT2 RPGRIP1 GMPPB TCTN2	5.01e-05	80	14	4	HP:0001360
HumanPheno	Small eyes	POMT2 RPGRIP1 SMO OCRL GMPPB TCTN2	5.97e-05	285	14	6	HP:0001143
HumanPheno	Microphthalmia	POMT2 RPGRIP1 SMO OCRL GMPPB TCTN2	5.97e-05	285	14	6	HP:0000568
HumanPheno	Abnormality of the tongue muscle	POMT2 GMPPB	6.98e-05	5	14	2	HP:0040173
HumanPheno	Open neural tube defect	POMT2 RPGRIP1 SMO GMPPB TCTN2	7.43e-05	177	14	5	HP:0034237
HumanPheno	Fusion of the cerebellar hemispheres	POMT2 GMPPB	1.05e-04	6	14	2	HP:0006899
HumanPheno	Abnormality of globe size	POMT2 RPGRIP1 SMO OCRL GMPPB TCTN2	1.13e-04	319	14	6	HP:0100887
HumanPheno	Aplasia/Hypoplasia of the tongue	RPGRIP1 SMO TCTN2	1.43e-04	39	14	3	HP:0010295
HumanPheno	Intracranial cystic lesion	POMT2 RPGRIP1 OCRL GMPPB TCTN2	2.04e-04	219	14	5	HP:0010576
HumanPheno	Central nervous system cyst	POMT2 RPGRIP1 OCRL GMPPB TCTN2	2.18e-04	222	14	5	HP:0030724
HumanPheno	Abnormal thalamus morphology	POMT2 SMO GMPPB	2.66e-04	48	14	3	HP:0010663
HumanPheno	Abnormal thalamic size	POMT2 GMPPB	3.12e-04	10	14	2	HP:0012693
HumanPheno	Decreased thalamic volume	POMT2 GMPPB	3.12e-04	10	14	2	HP:0012695
HumanPheno	Reduced muscle fiber alpha dystroglycan	POMT2 GMPPB	3.80e-04	11	14	2	HP:0030099
HumanPheno	Hypoglycosylation of alpha-dystroglycan	POMT2 GMPPB	3.80e-04	11	14	2	HP:0030046
HumanPheno	Abnormal muscle fiber alpha dystroglycan	POMT2 GMPPB	4.56e-04	12	14	2	HP:0030112
HumanPheno	Weakness of facial musculature	JAG2 POMT2 SMO GMPPB NOD2	5.34e-04	269	14	5	HP:0030319
HumanPheno	Olivopontocerebellar hypoplasia	POMT2 GMPPB	5.38e-04	13	14	2	HP:0006955
HumanPheno	Meningocele	POMT2 SMO GMPPB	5.96e-04	63	14	3	HP:0002435
HumanPheno	Corneal opacity	POMT2 RPGRIP1 OCRL TCTN2 NOD2	6.43e-04	280	14	5	HP:0007957
HumanPheno	Corneal opacity	POMT2 RPGRIP1 OCRL TCTN2 NOD2	6.43e-04	280	14	5	HP:0000515
HumanPheno	Decreased cervical spine mobility	POMT2 GMPPB	7.22e-04	15	14	2	HP:0004637
HumanPheno	Anophthalmia	POMT2 RPGRIP1 TCTN2	8.12e-04	70	14	3	HP:0000528
HumanPheno	Type II lissencephaly	POMT2 GMPPB	8.23e-04	16	14	2	HP:0007260
HumanPheno	Abnormal fourth ventricle morphology	POMT2 RPGRIP1 GMPPB TCTN2	8.24e-04	165	14	4	HP:0010950
HumanPheno	Dilated fourth ventricle	POMT2 RPGRIP1 GMPPB TCTN2	8.24e-04	165	14	4	HP:0002198
HumanPheno	Cerebellar cyst	POMT2 RPGRIP1 GMPPB TCTN2	8.43e-04	166	14	4	HP:0002350
HumanPheno	Postaxial foot polydactyly	RPGRIP1 SMO TCTN2	8.81e-04	72	14	3	HP:0001830
HumanPheno	Calf muscle pseudohypertrophy	POMT2 GMPPB	1.05e-03	18	14	2	HP:0003707
HumanPheno	Abnormality iris morphology	POMT2 RPGRIP1 SMO OCRL GMPPB TCTN2 NOD2	1.07e-03	680	14	7	HP:0000525
HumanPheno	Closed neural tube defect	POMT2 SMO GMPPB	1.16e-03	79	14	3	HP:0034238
HumanPheno	Olivopontocerebellar atrophy	POMT2 GMPPB	1.17e-03	19	14	2	HP:0002542
HumanPheno	Muscular dystrophy	JAG2 POMT2 GMPPB	1.20e-03	80	14	3	HP:0003560
HumanPheno	Abnormal neural tube morphology	POMT2 RPGRIP1 SMO GMPPB TCTN2	1.25e-03	324	14	5	HP:0410043
HumanPheno	Neural tube defect	POMT2 RPGRIP1 SMO GMPPB TCTN2	1.25e-03	324	14	5	HP:0045005
Domain	-	KDM2B CHAD LRRC70 RNH1 NLRP2 NOD2	5.77e-05	321	40	6	3.80.10.10
Domain	L_dom-like	KDM2B CHAD LRRC70 RNH1 NLRP2 NOD2	6.50e-05	328	40	6	IPR032675
Domain	MARCH-like	MARCHF11 MARCHF4	1.24e-04	8	40	2	IPR033275
Domain	MYTH4	MYO15A PLEKHH3	1.59e-04	9	40	2	PS51016
Domain	MyTH4_dom	MYO15A PLEKHH3	1.59e-04	9	40	2	IPR000857
Domain	MyTH4	MYO15A PLEKHH3	1.59e-04	9	40	2	SM00139
Domain	MyTH4	MYO15A PLEKHH3	1.59e-04	9	40	2	PF00784
Domain	LRR_6	RNH1 NLRP2 NOD2	2.21e-04	55	40	3	PF13516
Domain	SCAN	ZNF500 ZKSCAN2 ZSCAN20	2.33e-04	56	40	3	SM00431
Domain	RINGv	MARCHF11 MARCHF4	2.43e-04	11	40	2	PF12906
Domain	ZF_RING_CH	MARCHF11 MARCHF4	2.43e-04	11	40	2	PS51292
Domain	SCAN_BOX	ZNF500 ZKSCAN2 ZSCAN20	2.59e-04	58	40	3	PS50804
Domain	SCAN	ZNF500 ZKSCAN2 ZSCAN20	2.59e-04	58	40	3	PF02023
Domain	SCAN_dom	ZNF500 ZKSCAN2 ZSCAN20	2.59e-04	58	40	3	IPR003309
Domain	Leu-rich_rpt	CHAD LRRC70 RNH1 NLRP2 NOD2	2.69e-04	271	40	5	IPR001611
Domain	Retrov_capsid_C	ZNF500 ZKSCAN2 ZSCAN20	2.72e-04	59	40	3	IPR008916
Domain	IQ	MYO15A MYO1C RASGRF1	4.70e-04	71	40	3	PF00612
Domain	Znf_RING-CH	MARCHF11 MARCHF4	5.96e-04	17	40	2	IPR011016
Domain	RINGv	MARCHF11 MARCHF4	5.96e-04	17	40	2	SM00744
Domain	IQ	MYO15A MYO1C RASGRF1	6.92e-04	81	40	3	SM00015
Domain	Leu-rich_rpt_Cys-con_subtyp	KDM2B RNH1	7.47e-04	19	40	2	IPR006553
Domain	LRR_CC	KDM2B RNH1	7.47e-04	19	40	2	SM00367
Domain	IQ_motif_EF-hand-BS	MYO15A MYO1C RASGRF1	9.40e-04	90	40	3	IPR000048
Domain	IQ	MYO15A MYO1C RASGRF1	1.03e-03	93	40	3	PS50096
Domain	NACHT	NLRP2 NOD2	1.10e-03	23	40	2	PS50837
Domain	NACHT_NTPase	NLRP2 NOD2	1.10e-03	23	40	2	IPR007111
Domain	MYOSIN_MOTOR	MYO15A MYO1C	2.99e-03	38	40	2	PS51456
Domain	Myosin_head	MYO15A MYO1C	2.99e-03	38	40	2	PF00063
Domain	Myosin_head_motor_dom	MYO15A MYO1C	2.99e-03	38	40	2	IPR001609
Domain	MYSc	MYO15A MYO1C	2.99e-03	38	40	2	SM00242
Domain	FERM_M	MYO15A PLEKHH3	4.36e-03	46	40	2	PF00373
Domain	FERM_central	MYO15A PLEKHH3	4.94e-03	49	40	2	IPR019748
Domain	FERM_domain	MYO15A PLEKHH3	4.94e-03	49	40	2	IPR000299
Domain	FERM_1	MYO15A PLEKHH3	5.13e-03	50	40	2	PS00660
Domain	FERM_2	MYO15A PLEKHH3	5.13e-03	50	40	2	PS00661
Domain	Band_41_domain	MYO15A PLEKHH3	5.13e-03	50	40	2	IPR019749
Domain	SANT	ZKSCAN2 ZSCAN20	5.13e-03	50	40	2	SM00717
Domain	B41	MYO15A PLEKHH3	5.13e-03	50	40	2	SM00295
Domain	FERM_3	MYO15A PLEKHH3	5.13e-03	50	40	2	PS50057
Domain	SANT/Myb	ZKSCAN2 ZSCAN20	5.54e-03	52	40	2	IPR001005
Domain	Znf_C3HC4_RING-type	TRIM77 MARCHF11 MARCHF4	5.91e-03	172	40	3	IPR018957
Domain	LRR	CHAD LRRC70 NOD2	9.05e-03	201	40	3	PS51450
Domain	F-box	KDM2B FBXO9	9.06e-03	67	40	2	PF00646
Pubmed	Nod2 improves barrier function of intestinal epithelial cells via enhancement of TLR responses.	NLRP2 NOD2	8.12e-06	4	41	2	22750073
Pubmed	Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease.	MUC4 NOD2	1.35e-05	5	41	2	17058067
Pubmed	SGT1 is essential for Nod1 activation.	NLRP2 NOD2	2.03e-05	6	41	2	17420470
Pubmed	Myosins: a diverse superfamily.	MYO15A MYO1C	2.84e-05	7	41	2	10722873
Pubmed	Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells.	RPGRIP1 SMO	3.78e-05	8	41	2	18297065
Pubmed	Tonotopic gradient in the developmental acquisition of sensory transduction in outer hair cells of the mouse cochlea.	MYO15A MYO1C	4.86e-05	9	41	2	19339464
Pubmed	SCFFbxl3 controls the oscillation of the circadian clock by directing the degradation of cryptochrome proteins.	KDM2B FBXO9	1.22e-04	14	41	2	17463251
Pubmed	Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.	COX11 NOD2	1.61e-04	16	41	2	20601676
Pubmed	The role of Pax2 in mouse inner ear development.	JAG2 MYO15A	1.82e-04	17	41	2	15242798
Pubmed	Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.	SMO TCTN2	3.38e-04	23	41	2	16357211
Pubmed	Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse.	SMO TCTN2	4.00e-04	25	41	2	29487109
Pubmed	E-cadherin expression on multiple myeloma cells activates tumor-promoting properties in plasmacytoid DCs.	MYO1C RNH1	5.03e-04	28	41	2	30277474
Pubmed	An essential function for autocrine hedgehog signaling in epithelial proliferation and differentiation in the trachea.	CHAD SMO	5.03e-04	28	41	2	35112129
Pubmed	A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.	SMO TCTN2	9.28e-04	38	41	2	22179047
Pubmed	A family of mammalian F-box proteins.	KDM2B FBXO9	1.13e-03	42	41	2	10531037
GeneFamily	Ring finger proteins\|Membrane associated ring-CH-type fingers	MARCHF11 MARCHF4	1.65e-04	11	32	2	60
GeneFamily	NLR family	NLRP2 NOD2	8.88e-04	25	32	2	666
GeneFamily	Ankyrin repeat domain containing\|FERM domain containing	MYO15A PLEKHH3	3.53e-03	50	32	2	1293
GeneFamily	GATA zinc finger domain containing\|Myb/SANT domain containing	ZKSCAN2 ZSCAN20	3.95e-03	53	32	2	532
Disease	autosomal recessive limb-girdle muscular dystrophy (is_implicated_in)	JAG2 POMT2	1.70e-05	5	39	2	DOID:0110274 (is_implicated_in)
Disease	Qualitative or quantitative defects of alpha-dystroglycan	POMT2 GMPPB	2.54e-05	6	39	2	cv:C2936406
Disease	Congenital muscular dystrophy	POMT2 GMPPB	1.11e-04	12	39	2	cv:C0699743
Disease	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	POMT2 GMPPB	1.53e-04	14	39	2	C1836373
Disease	alpha-Dystroglycanopathies	POMT2 GMPPB	1.53e-04	14	39	2	C2936406
Disease	Muscle eye brain disease	POMT2 GMPPB	1.53e-04	14	39	2	C0457133
Disease	Fukuyama Type Congenital Muscular Dystrophy	POMT2 GMPPB	1.53e-04	14	39	2	C0410174
Disease	unipolar depression, anxiety	GPR55 ZKSCAN2	1.53e-04	14	39	2	EFO_0003761, EFO_0005230
Disease	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	POMT2 GMPPB	1.53e-04	14	39	2	C4284790
Disease	Walker-Warburg congenital muscular dystrophy	POMT2 GMPPB	1.77e-04	15	39	2	C0265221
Disease	Meckel-Gruber syndrome	RPGRIP1 TCTN2	1.77e-04	15	39	2	C0265215
Disease	Meckel syndrome type 1	RPGRIP1 TCTN2	2.57e-04	18	39	2	C3714506
Disease	pancreatitis (biomarker_via_orthology)	SMO NOD2	1.22e-03	39	39	2	DOID:4989 (biomarker_via_orthology)

Protein segments in the cluster

Peptide	Gene	Start	Entry
SLEVSTKCRGLWWEC	CLDN16	36	Q9Y5I7
PWKCTCQLRGLRRWL	CHAD	301	O15335
RDRTCCCRRAWWILV	NPFFR2	76	Q9Y5X5
WRRVPWVSLSCLCLC	MUC4	6	Q99102
LGRWLVVRLATKWCQ	KIAA0100	21	Q14667
RCRTWLGEWLQISCS	LETMD1	321	Q6P1Q0
KPRACSLRWSCLWLR	MYO15A	1146	Q9UKN7
LACVVLCVWWTRKRR	JAG2	1096	Q9Y219
SWLESCIVGWRCRVG	GMPPB	301	Q9Y5P6
KSRWNWGSITCIICF	FBXW7-AS1	11	B0L3A2
KPLCNLRCLWLWGCS	NLRP2	951	Q9NX02
GWRWIRIDTSCVCAL	NTF3	236	P20783
RKIFGICCTIWVLVW	GPR55	136	Q9Y2T6
WECNCKLLGLRDWLA	LRRC70	361	Q7Z2Q7
TWNRWCCDKRLWTRI	KDM2B	1091	Q8NHM5
EIWRLACLKVWGRSC	FBXO9	231	Q9UK97
AERGLRWLGTWKRCS	COX11	46	Q9Y6N1
YTWLRLIKCGEWCIA	GALNT5	846	Q7Z7M9
LCVGIFSWCIWKRKG	LY9	466	Q9HBG7
PCLIKWISERGCWSC	MARCHF4	191	Q9P2E8
LKWISERGSWTCELC	MARCHF11	201	A6NNE9
IRKLGVRCCPGSWWD	ATP4A	1016	P20648
TIIGTLFDKRCWLWV	TAS2R16	246	Q9NYV7
LWIEITKCCGLRSRW	RPGRIP1	801	Q96KN7
GLWWLLCCRRGFTLL	PLEKHH3	6	Q7Z736
LTGILWDTLLRLCAW	POMT2	676	Q9UKY4
SFLRGWLCRRKWKTI	RASGRF1	211	Q13972
CAWRRTLLESCVKWL	URB1	1376	O60287
KCRVPAWCDRILWRG	OCRL	491	Q01968
LRWQRCAESWGLQKL	SPTBN5	3411	Q9NRC6
CNWVIGLCREAWTKR	TRIM77	351	I1YAP6
WLCGKLLGVVARWLR	UGT3A1	501	Q6NUS8
QLWALCCRWLRPEIR	ZSCAN20	71	P17040
CSICLFWWAKRRDVL	TMEM190	96	Q8WZ59
RRLLDTVWNKGTWAC	NOD2	86	Q9HC29
SRLRTLWIWECGITA	RNH1	256	P13489
LCSLVWLPSWRVCCK	SUCO	16	Q9UBS9
TLLIWRRTWCRLTGQ	SMO	541	Q99835
LWELCCRWLKPEMRS	ZKSCAN2	66	Q63HK3
VLEVTVRWKRGLDWC	TCTN2	91	Q96GX1
EALSRLWELCCRWLR	ZNF500	66	O60304
RVKRSAICIQSWWRG	MYO1C	756	O00159