Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
MousePheno	enlarged pharyngeal arch	IFT122 GLI3	1.33e-05	3	30	2	MP:0030312
Domain	SET	SETD1B KMT2E	2.98e-03	41	37	2	PF00856
Domain	Znf_FYVE_PHD	PIKFYVE DPF2 KMT2E	3.05e-03	147	37	3	IPR011011
Domain	SET	SETD1B KMT2E	3.74e-03	46	37	2	SM00317
Domain	SET_dom	SETD1B KMT2E	4.41e-03	50	37	2	IPR001214
Domain	SET	SETD1B KMT2E	4.41e-03	50	37	2	PS50280
Domain	PHD	DPF2 KMT2E	9.68e-03	75	37	2	PF00628
Domain	Znf_PHD-finger	DPF2 KMT2E	1.07e-02	79	37	2	IPR019787
Domain	-	PIKFYVE DPF2 KMT2E RNF111	1.16e-02	449	37	4	3.30.40.10
Domain	Znf_RING/FYVE/PHD	PIKFYVE DPF2 KMT2E RNF111	1.25e-02	459	37	4	IPR013083
Domain	PHD	DPF2 KMT2E	1.34e-02	89	37	2	SM00249
Domain	Znf_PHD	DPF2 KMT2E	1.40e-02	91	37	2	IPR001965
Domain	ZF_PHD_2	DPF2 KMT2E	1.52e-02	95	37	2	PS50016
Domain	ZF_PHD_1	DPF2 KMT2E	1.55e-02	96	37	2	PS01359
Pubmed	An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.	PIKFYVE CATSPER1 SPRED2 RUNX1T1 YTHDC1 RNF111	1.59e-05	514	37	6	29892012
Pubmed	BMP7 and SHH regulate Pax2 in mouse retinal astrocytes by relieving TLX repression.	BMP7 GLI3	2.30e-05	7	37	2	19505455
Pubmed	Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.	SETD1B KMT2E	3.07e-05	8	37	2	23130995
Pubmed	Patterning events and specification signals in the developing hippocampus.	BMP7 GLI3	3.07e-05	8	37	2	10498273
Pubmed	Sonic hedgehog activates mesenchymal Gli1 expression during prostate ductal bud formation.	BMP7 GLI3	3.07e-05	8	37	2	12221011
Pubmed	Sonic hedgehog is not a limb morphogen but acts as a trigger to specify all digits in mice.	UNCX GLI3	4.93e-05	10	37	2	35977544
Pubmed	A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.	BMP7 ONECUT1	4.93e-05	10	37	2	23437001
Pubmed	Tbx Genes Specify Posterior Digit Identity through Shh and BMP Signaling.	BMP7 GLI3	6.02e-05	11	37	2	14723846
Pubmed	Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3.	BMP7 GLI3	6.02e-05	11	37	2	19389374
Pubmed	The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking.	IFT122 GLI3	6.02e-05	11	37	2	22689656
Pubmed	RNA profiling and chromatin immunoprecipitation-sequencing reveal that PTF1a stabilizes pancreas progenitor identity via the control of MNX1/HLXB9 and a network of other transcription factors.	BMP7 ONECUT1	7.22e-05	12	37	2	22232429
Pubmed	Bud specific N-sulfation of heparan sulfate regulates Shp2-dependent FGF signaling during lacrimal gland induction.	BMP7 NDST2	7.22e-05	12	37	2	18077586
Pubmed	Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development.	BMP7 GLI3	7.22e-05	12	37	2	9152009
Pubmed	Sost and its paralog Sostdc1 coordinate digit number in a Gli3-dependent manner.	BMP7 GLI3	7.22e-05	12	37	2	23994639
Pubmed	Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps.	BMP7 GLI3	8.53e-05	13	37	2	16916379
Pubmed	Complex interactions between genes controlling trafficking in primary cilia.	IFT122 GLI3	9.94e-05	14	37	2	21552265
Pubmed	Lrp4 modulates extracellular integration of cell signaling pathways in development.	BMP7 GLI3	9.94e-05	14	37	2	19116665
Pubmed	BMP7 expression in mammalian cortical radial glial cells increases the length of the neurogenic period.	BMP7 GLI3	9.94e-05	14	37	2	37300483
Pubmed	The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice.	BMP7 GLI3	9.94e-05	14	37	2	9584130
Pubmed	Dorsoventral patterning of the telencephalon is disrupted in the mouse mutant extra-toes(J).	BMP7 GLI3	1.48e-04	17	37	2	10625551
Pubmed	Proper ciliary assembly is critical for restricting Hedgehog signaling during early eye development in mice.	IFT122 GLI3	1.48e-04	17	37	2	28778798
Pubmed	Pitx1 and Pitx2 are required for development of hindlimb buds.	BMP7 GLI3	1.67e-04	18	37	2	12441290
Pubmed	Activin is an essential early mesenchymal signal in tooth development that is required for patterning of the murine dentition.	BMP7 GLI3	1.67e-04	18	37	2	9716414
Pubmed	BMP/SMAD1 signaling sets a threshold for the left/right pathway in lateral plate mesoderm and limits availability of SMAD4.	BMP7 UNCX	1.86e-04	19	37	2	18981480
Pubmed	Cooperative activity of noggin and gremlin 1 in axial skeleton development.	UNCX GLI3	1.86e-04	19	37	2	21303853
Pubmed	Syndactyly of Ft/+ mice correlates with an imbalance in bmp4 and fgf8 expression.	BMP7 GLI3	2.07e-04	20	37	2	10534616
Pubmed	Msx1 and Msx2 in limb mesenchyme modulate digit number and identity.	BMP7 GLI3	2.07e-04	20	37	2	21465616
Pubmed	Growth arrest specific gene 1 acts as a region-specific mediator of the Fgf10/Fgf8 regulatory loop in the limb.	BMP7 GLI3	2.28e-04	21	37	2	12399319
Pubmed	Temporomandibular joint formation requires two distinct hedgehog-dependent steps.	BMP7 GLI3	2.28e-04	21	37	2	19815519
Pubmed	Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.	UNCX GLI3	2.28e-04	21	37	2	14745966
Pubmed	NDST1-dependent heparan sulfate regulates BMP signaling and internalization in lung development.	BMP7 NDST2	2.51e-04	22	37	2	19299468
Pubmed	ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.	IFT122 GLI3	2.51e-04	22	37	2	25294941
Pubmed	Structural basis for activity regulation of MLL family methyltransferases.	SETD1B KMT2E	2.51e-04	22	37	2	26886794
Pubmed	Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb.	BMP7 GLI3	2.75e-04	23	37	2	19783740
Pubmed	Shh signaling within the dental epithelium is necessary for cell proliferation, growth and polarization.	BMP7 GLI3	2.99e-04	24	37	2	12403705
Pubmed	Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse.	BMP7 GLI3	2.99e-04	24	37	2	36916392
Pubmed	Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.	BMP7 GLI3	3.25e-04	25	37	2	17468181
Pubmed	Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.	DNAI1 GLI3	3.25e-04	25	37	2	27340223
Pubmed	Type 1 fibroblast growth factor receptor in cranial neural crest cell-derived mesenchyme is required for palatogenesis.	BMP7 GLI3	3.52e-04	26	37	2	23754280
Pubmed	GATA6 is a crucial regulator of Shh in the limb bud.	BMP7 GLI3	3.52e-04	26	37	2	24415953
Pubmed	An FGF3-BMP Signaling Axis Regulates Caudal Neural Tube Closure, Neural Crest Specification and Anterior-Posterior Axis Extension.	BMP7 UNCX	3.80e-04	27	37	2	27144312
Pubmed	Retrograde BMP signaling regulates trigeminal sensory neuron identities and the formation of precise face maps.	BMP7 ONECUT1	4.09e-04	28	37	2	17698011
Pubmed	Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.	IFT122 GLI3	4.39e-04	29	37	2	21209331
Pubmed	Anteroposterior Limb Skeletal Patterning Requires the Bifunctional Action of SWI/SNF Chromatin Remodeling Complex in Hedgehog Pathway.	BMP7 GLI3	4.39e-04	29	37	2	26959361
Pubmed	Gli3 controls corpus callosum formation by positioning midline guideposts during telencephalic patterning.	BMP7 GLI3	4.70e-04	30	37	2	23042737
Pubmed	R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors.	BMP7 UNCX	4.70e-04	30	37	2	32324134
Pubmed	Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling.	NLGN3 UNCX	4.70e-04	30	37	2	20630950
Pubmed	Senescence is a developmental mechanism that contributes to embryonic growth and patterning.	BMP7 GLI3	4.70e-04	30	37	2	24238961
Pubmed	The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.	BMP7 GLI3	5.69e-04	33	37	2	26071364
Pubmed	Twist function is required for the morphogenesis of the cephalic neural tube and the differentiation of the cranial neural crest cells in the mouse embryo.	UNCX GLI3	6.05e-04	34	37	2	12086465
Pubmed	Radial glia require PDGFD-PDGFRβ signalling in human but not mouse neocortex.	PAM BMP7	6.05e-04	34	37	2	25391964
Pubmed	The core SWI/SNF catalytic subunit Brg1 regulates nephron progenitor cell proliferation and differentiation.	BMP7 DPF2	6.41e-04	35	37	2	32504627
Pubmed	GLI3 constrains digit number by controlling both progenitor proliferation and BMP-dependent exit to chondrogenesis.	BMP7 GLI3	7.16e-04	37	37	2	22465667
Pubmed	Cell cycle-related kinase is a crucial regulator for ciliogenesis and Hedgehog signaling in embryonic mouse lung development.	IFT122 GLI3	8.37e-04	40	37	2	32317081
Pubmed	A novel view of the transcriptome revealed from gene trapping in mouse embryonic stem cells.	NLGN3 RNF111	8.37e-04	40	37	2	17540781
Pubmed	The microRNA-processing enzyme Dicer is dispensable for somite segmentation but essential for limb bud positioning.	UNCX GLI3	8.37e-04	40	37	2	21256124
Pubmed	A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract.	PIKFYVE DPF2 ONECUT1 GLI3 RNF111	8.82e-04	709	37	5	22988430
Pubmed	Identification of genes expressed preferentially in the developing peripheral margin of the optic cup.	BMP7 TCN2	9.23e-04	42	37	2	19449303
GeneFamily	Zinc fingers C2H2-type\|Lysine methyltransferases\|PR/SET domain family	SETD1B KMT2E	1.00e-03	34	25	2	487
GeneFamily	PHD finger proteins	DPF2 KMT2E	6.82e-03	90	25	2	88
Coexpression	GSE5589_LPS_VS_LPS_AND_IL10_STIM_IL6_KO_MACROPHAGE_180MIN_UP	PIKFYVE ZSWIM8 UPF3A SETD1B NDST2	8.79e-06	200	37	5	M6623
Drug	Doxorubicin hydrochloride [25316-40-9]; Down 200; 6.8uM; PC3; HT_HG-U133A	DPF2 SETD1B SPRED2 GLI3 CLK4 NDST2	4.85e-07	184	37	6	4610_DN
Drug	indomethacin, USP; Down 200; 100uM; SKMEL5; HG-U133A	POMT2 ZSWIM8 SPRED2 TCN2 GLI3	1.60e-05	197	37	5	503_DN
Disease	schizophrenia, type 2 diabetes mellitus	PAM SPRED2 RUNX1T1	2.16e-05	43	37	3	MONDO_0005090, MONDO_0005148
Disease	oppositional defiant disorder measurement	BMP7 RUNX1T1	9.38e-04	36	37	2	EFO_0007679
Disease	autistic disorder (is_implicated_in)	NLGN3 KMT2E	1.28e-03	42	37	2	DOID:12849 (is_implicated_in)
Disease	Primary Ciliary Dyskinesia	DNAI1 IFT122	1.60e-03	47	37	2	C4551720
Disease	health literacy measurement	GAN GLI3	2.03e-03	53	37	2	EFO_0010104

Protein segments in the cluster

Peptide	Gene	Start	Entry
HHRPGHSRALHHYEL	CATSPER1	31	Q8NEC5
SHYHRGSHHGRPQYL	CATSPER1	141	Q8NEC5
EYHQGDHHPSEYHHG	CATSPER1	266	Q8NEC5
GHLPIHRAAYEGHYL	ASB15	276	Q8WXK1
NYPMHVFAYRVHTHH	PAM	226	P19021
IHVDHPYLVAVGHYD	DNAI1	391	Q9UI46
EHDKEFFHPRYHHRE	BMP7	141	P18075
IPFYAGSRHHDFHHM	MSMO1	241	Q15800
PIDARHHEGRYHYDP	GLI3	136	P10071
LYHGYHAIHRHTEDP	IFT122	951	Q9HBG6
GHTPSGRHFYLCHHD	GPR179	526	Q6PRD1
AIAHHYRDSYRHPSH	RUNX1T1	306	Q06455
AFHHEEIHPSHYAFE	FAM217B	251	Q9NTX9
GDYHHHHRAPEHSLA	ONECUT1	66	Q9UBC0
EGRSHHHYPDFHQEL	ILDR1	366	Q86SU0
HHSHSYIGLPYADHN	KMT2E	51	Q8IZD2
HLHLHGYYLAHRLPV	GDPGP1	216	Q6ZNW5
QGHGYHHPHSYREAP	KICS2	326	Q96MD2
SHYHHGDHPSYAKPR	MYO15B	126	Q96JP2
HLVPHLYNLHDMFHY	NLGN3	626	Q9NZ94
AEPCGHSIHHDYHQY	PIKFYVE	1356	Q9Y2I7
LHHVHYLATEYLETH	GAN	146	Q9H2C0
LPCRYHYEAAAHGHD	HAPLN4	66	Q86UW8
PRHYHRDIESGYRIH	CLK4	86	Q9HAZ1
YLFIHFPDHHEGHLT	DROSHA	1161	Q9NRR4
AIGYLHSHRHLYPEG	POMT2	351	Q9UKY4
YHVDDGRRHRAHHEP	UPF3A	361	Q9H1J1
YNRRHEHHYVHNSPA	SETD1B	321	Q9UPS6
AIGHDHKGHPHTSYY	TCN2	141	P20062
HHIHYVIPYDGDQSV	TMEM240	56	Q5SV17
YTPGALHPHLAHYHA	RNF111	821	Q6ZNA4
HHSGVYPIHTQLYEA	NDST2	431	P52849
RPGLSYHYAHSHLAE	DPF2	221	Q92785
GHLHDSYPTDHYHLD	SPRED2	181	Q7Z698
YSGHHPVPHEARYRD	YTHDC1	636	Q96MU7
YIHHRLIHLTPADYD	ZSWIM8	1771	A7E2V4
YAHAVLGHHPHVVRY	WEE2	261	P0C1S8
YYNPHSDFHLHQRVH	ZNF619	196	Q8N2I2
YPLGHHHVYELAGHQ	UNCX	26	A6NJT0