Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	catalytic activity, acting on a nucleic acid	SUPV3L1 DDX60 CHTF18 RAD54B CARS1 TEP1 CDK7 TRMT12	2.79e-04	645	53	8	GO:0140640
GeneOntologyMolecularFunction	ATP-dependent activity, acting on DNA	SUPV3L1 CHTF18 RAD54B CDK7	3.59e-04	127	53	4	GO:0008094
GeneOntologyMolecularFunction	phosphatidylinositol transfer activity	OSBPL2 PLTP	3.74e-04	11	53	2	GO:0008526
GeneOntologyMolecularFunction	monoatomic cation:bicarbonate symporter activity	SLC39A6 SLC39A4	5.29e-04	13	53	2	GO:0140410
GeneOntologyMolecularFunction	DNA helicase activity	SUPV3L1 CHTF18 RAD54B	5.98e-04	62	53	3	GO:0003678
GeneOntologyMolecularFunction	catalytic activity, acting on DNA	SUPV3L1 CHTF18 RAD54B TEP1 CDK7	6.42e-04	262	53	5	GO:0140097
GeneOntologyMolecularFunction	helicase activity	SUPV3L1 DDX60 CHTF18 RAD54B	8.17e-04	158	53	4	GO:0004386
GeneOntologyMolecularFunction	phospholipid transporter activity	OSBPL2 ATP8B1 PLTP	1.00e-03	74	53	3	GO:0005548
GeneOntologyMolecularFunction	phosphatidylglycerol binding	ATP8B1 PLTP	1.03e-03	18	53	2	GO:1901611
GeneOntologyMolecularFunction	RNA helicase activity	SUPV3L1 DDX60 RAD54B	1.17e-03	78	53	3	GO:0003724
GeneOntologyMolecularFunction	ATP-dependent activity, acting on RNA	SUPV3L1 DDX60 RAD54B	1.26e-03	80	53	3	GO:0008186
GeneOntologyMolecularFunction	phosphatidylcholine transporter activity	ATP8B1 PLTP	1.27e-03	20	53	2	GO:0008525
GeneOntologyMolecularFunction	cholesterol transfer activity	OSBPL2 PLTP	1.84e-03	24	53	2	GO:0120020
GeneOntologyMolecularFunction	zinc ion transmembrane transporter activity	SLC39A6 SLC39A4	1.84e-03	24	53	2	GO:0005385
GeneOntologyMolecularFunction	sterol transfer activity	OSBPL2 PLTP	1.99e-03	25	53	2	GO:0120015
GeneOntologyMolecularFunction	phospholipid transfer activity	OSBPL2 PLTP	2.16e-03	26	53	2	GO:0120014
GeneOntologyMolecularFunction	bicarbonate transmembrane transporter activity	SLC39A6 SLC39A4	3.26e-03	32	53	2	GO:0015106
GeneOntologyMolecularFunction	pattern recognition receptor activity	NOD1 TLR5	3.89e-03	35	53	2	GO:0038187
GeneOntologyCellularComponent	male germ cell nucleus	CHTF18 AIRE STAG3 CDK7	6.70e-05	86	53	4	GO:0001673
GeneOntologyCellularComponent	germ cell nucleus	CHTF18 AIRE STAG3 CDK7	1.93e-04	113	53	4	GO:0043073
MousePheno	cryptophthalmos	FRAS1 FREM1	2.39e-05	3	40	2	MP:0005242
Domain	NACHT	NLRP9 NOD1 TEP1	3.47e-05	23	52	3	PS50837
Domain	NACHT_NTPase	NLRP9 NOD1 TEP1	3.47e-05	23	52	3	IPR007111
Domain	Calx_beta	FRAS1 FREM1	2.70e-04	9	52	2	IPR003644
Domain	Calx-beta	FRAS1 FREM1	2.70e-04	9	52	2	PF03160
Domain	Zip	SLC39A6 SLC39A4	6.77e-04	14	52	2	PF02535
Domain	ZIP	SLC39A6 SLC39A4	6.77e-04	14	52	2	IPR003689
Domain	Helicase_C	SUPV3L1 DDX60 RAD54B	3.30e-03	107	52	3	PF00271
Domain	HELICc	SUPV3L1 DDX60 RAD54B	3.30e-03	107	52	3	SM00490
Domain	Helicase_C	SUPV3L1 DDX60 RAD54B	3.38e-03	108	52	3	IPR001650
Domain	HELICASE_CTER	SUPV3L1 DDX60 RAD54B	3.47e-03	109	52	3	PS51194
Domain	HELICASE_ATP_BIND_1	SUPV3L1 DDX60 RAD54B	3.47e-03	109	52	3	PS51192
Domain	-	NLRP9 NOD1 SUPV3L1 DDX60 CHTF18 RAD54B TEP1	4.41e-03	746	52	7	3.40.50.300
Domain	ARM-like	AP5Z1 MEI1 BRAT1 STAG3	6.71e-03	270	52	4	IPR011989
Domain	P-loop_NTPase	NLRP9 NOD1 SUPV3L1 DDX60 CHTF18 RAD54B TEP1	8.75e-03	848	52	7	IPR027417
Pubmed	Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development.	FRAS1 FREM1	2.46e-06	2	55	2	17240369
Pubmed	Clinicopathological correlation of Krüppel-like factor 5 and matrix metalloproteinase-9 expression and cartilage degeneration in human osteoarthritis.	KLF5 MMP9	2.46e-06	2	55	2	22094285
Pubmed	Commensal bacteria regulate thymic Aire expression.	NOD1 AIRE	2.46e-06	2	55	2	25157574
Pubmed	Targeting cyclin-dependent kinase 7-association between CDK7 and pMED1 expression in prostate cancer tissue.	MED1 CDK7	2.46e-06	2	55	2	35512686
Pubmed	Isolation and characterization of the mouse Aire gene.	PWP2 AIRE	7.36e-06	3	55	2	10049735
Pubmed	Combined stimulation of Toll-like receptor 5 and NOD1 strongly potentiates activity of NF-κB, resulting in enhanced innate immune reactions and resistance to Salmonella enterica serovar Typhimurium infection.	NOD1 TLR5	7.36e-06	3	55	2	23897616
Pubmed	Collagen remodeling in the anterior cruciate ligament associated with developing spontaneous murine osteoarthritis.	NOD1 MMP9	7.36e-06	3	55	2	10329460
Pubmed	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.	FRAS1 FREM1	1.47e-05	4	55	2	29618029
Pubmed	CXCL10/CXCR3 axis promotes the invasion of gastric cancer via PI3K/AKT pathway-dependent MMPs production.	CXCR3 MMP9	1.47e-05	4	55	2	27470388
Pubmed	Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.	FRAS1 FREM1	1.47e-05	4	55	2	23221805
Pubmed	Integrin alphavbeta6 mediates HT29-D4 cell adhesion to MMP-processed fibrinogen in the presence of Mn2+.	FGA MMP9	1.47e-05	4	55	2	17275949
Pubmed	Cytoplasmic flagellin activates caspase-1 and secretion of interleukin 1beta via Ipaf.	NOD1 TLR5	1.47e-05	4	55	2	16648853
Pubmed	Frem1 activity is regulated by Sonic hedgehog signaling in the cranial neural crest mesenchyme during midfacial morphogenesis.	FRAS1 FREM1	1.47e-05	4	55	2	36495293
Pubmed	Fibrin(ogen)-independent role of plasminogen activators in acetaminophen-induced liver injury.	FGA MMP9	1.47e-05	4	55	2	22507835
Pubmed	Toll-like receptor-5 agonist, entolimod, suppresses metastasis and induces immunity by stimulating an NK-dendritic-CD8+ T-cell axis.	CXCR3 TLR5	1.47e-05	4	55	2	26831100
Pubmed	Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice.	FRAS1 FREM1	1.47e-05	4	55	2	18563433
Pubmed	Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development.	FRAS1 FREM1	2.45e-05	5	55	2	17251066
Pubmed	Chemokine expression by astrocytes plays a role in microglia/macrophage activation and subsequent neurodegeneration in secondary progressive multiple sclerosis.	CXCR3 MMP9	2.45e-05	5	55	2	16733654
Pubmed	Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.	FRAS1 FREM1	2.45e-05	5	55	2	23536828
Pubmed	Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa.	FRAS1 FREM1	2.45e-05	5	55	2	17596926
Pubmed	Craniofacial consequences of connective tissue disorders in mice.	FRAS1 FREM1	3.67e-05	6	55	2	6391574
Pubmed	Kruppel-Like Factor 4 Regulates Granule Cell Pax6 Expression and Cell Proliferation in Early Cerebellar Development.	KLF5 ZIC1	3.67e-05	6	55	2	26226504
Pubmed	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.	FRAS1 FREM1	3.67e-05	6	55	2	24700879
Pubmed	Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1.	FRAS1 FREM1	3.67e-05	6	55	2	17462874
Pubmed	Regulation of Legionella phagosome maturation and infection through flagellin and host Ipaf.	NOD1 TLR5	3.67e-05	6	55	2	16984919
Pubmed	AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells.	AIRE CDK7	3.67e-05	6	55	2	17938200
Pubmed	Transitions in oral and intestinal microflora composition and innate immune receptor-dependent stimulation during mouse development.	NOD1 TLR5	5.13e-05	7	55	2	19933833
Pubmed	Kruppel-like factor 5 causes cartilage degradation through transactivation of matrix metalloproteinase 9.	KLF5 MMP9	5.13e-05	7	55	2	18617520
Pubmed	The LZT proteins; the LIV-1 subfamily of zinc transporters.	SLC39A6 SLC39A4	6.83e-05	8	55	2	12659941
Pubmed	Ezh2-mediated repression of a transcriptional pathway upstream of Mmp9 maintains integrity of the developing vasculature.	KLF5 MMP9	8.78e-05	9	55	2	25359725
Pubmed	Downregulation of the Na/K-ATPase pump by leptospiral glycolipoprotein activates the NLRP3 inflammasome.	NOD1 TLR5	1.10e-04	10	55	2	22323544
Pubmed	The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.	FRAS1 FREM1	1.10e-04	10	55	2	15345741
Pubmed	The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices.	FRAS1 FGA MMP9 FREM1	1.44e-04	167	55	4	22159717
Pubmed	Polymorphisms of innate pattern recognition receptors, response to interferon-beta and development of neutralizing antibodies in multiple sclerosis patients.	NOD1 TLR5	2.21e-04	14	55	2	20595247
Pubmed	Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.	FRAS1 FREM1	2.54e-04	15	55	2	23064016
Pubmed	Mouse pachytene checkpoint 2 (trip13) is required for completing meiotic recombination but not synapsis.	MEI1 STAG3	2.90e-04	16	55	2	17696610
Pubmed	Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.	FRAS1 FREM1	2.90e-04	16	55	2	16880404
Pubmed	A dual-activity topoisomerase complex regulates mRNA translation and turnover.	FRAS1 PDE4A CASKIN1 TEP1 BRAT1 CNTROB TFE3 PLEKHH3	3.28e-04	1105	55	8	35748872
Pubmed	Requirement of zinc transporter ZIP10 for epidermal development: Implication of the ZIP10-p63 axis in epithelial homeostasis.	SLC39A6 SLC39A4	3.29e-04	17	55	2	29078349
Pubmed	A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.	FRAS1 FREM1	3.70e-04	18	55	2	14730302
Pubmed	Pericytes are required for blood-brain barrier integrity during embryogenesis.	MMP9 ZIC1	4.13e-04	19	55	2	20944625
Pubmed	Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.	NOD1 AIRE MMP9 TEP1	4.96e-04	231	55	4	21048031
Pubmed	Functional genetic analysis of mouse chromosome 11.	MED1 FREM1	6.08e-04	23	55	2	12955145
Pubmed	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	KLF5 MED1 MMP9 PLTP	6.67e-04	250	55	4	18660489
Pubmed	Replication of genetic association studies in asthma and related phenotypes.	NOD1 MMP9	7.79e-04	26	55	2	20395963
Pubmed	Regulation of hierarchical clustering and activation of innate immune cells by dendritic cells.	CXCR3 NOD1	7.79e-04	26	55	2	19006696
Pubmed	Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.	CXCR3 NOD1 MMP9	8.15e-04	115	55	3	20485444
Pubmed	A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex.	DNAAF2 STRN CARS1 MED1 CDK7	8.97e-04	472	55	5	38943005
Pubmed	Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions.	BHLHE22 ZIC1	9.04e-04	28	55	2	35942939
Pubmed	Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins.	FRAS1 FREM1	9.70e-04	29	55	2	22613833
Pubmed	Multiple roles of FOXJ3 in spermatogenesis: A lesson from Foxj3 conditional knockout mouse models.	CHTF18 STAG3	1.18e-03	32	55	2	27739607
Pubmed	Lhx2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth.	MMP9 FREM1	1.26e-03	33	55	2	26952977
Pubmed	Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.	PWP2 AIRE	1.33e-03	34	55	2	10613844
Pubmed	High-resolution photocatalytic mapping of SARS-CoV-2 spike interactions on the cell surface.	AMPD2 PAFAH1B3 PWP2 SLC39A6	1.42e-03	307	55	4	37499664
Pubmed	HSP90 Shapes the Consequences of Human Genetic Variation.	CHTF18 BRAT1	1.49e-03	36	55	2	28215707
Coexpression	TBK1.DF_UP	OSBPL2 SACS AP5Z1 SLC39A6 SLC39A4 MMP9 TFE3	2.27e-06	287	55	7	M2867
Coexpression	GSE16385_ROSIGLITAZONE_IL4_VS_IL4_ALONE_STIM_MACROPHAGE_12H_UP	CXCR3 OSBPL2 AP5Z1 CARS1 ATP8B1 MED1	3.89e-06	200	55	6	M8026
Coexpression	URS_ADIPOCYTE_DIFFERENTIATION_DN	MED1 MMP9 OSGIN1	3.77e-05	31	55	3	M18395
ToppCell	PND03-Immune-Immune_Myeloid-Granulocytic-Neutrophil-Neutrophil_prolif\|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif	FOXD2 CASKIN1 TLR5 CARS1 ALAS2 MMP9 BRAT1	9.24e-10	153	56	7	489228ab81c3ae339a53a9da6c2a1c1b6ac3f84b
Disease	Fraser syndrome (implicated_via_orthology)	FRAS1 FREM1	1.75e-05	4	51	2	DOID:0090001 (implicated_via_orthology)
Disease	pulmonary emphysema (biomarker_via_orthology)	FGA MMP9	4.37e-05	6	51	2	DOID:9675 (biomarker_via_orthology)
Disease	Neointima Formation	KLF5 MMP9	4.37e-05	6	51	2	C2936381
Disease	Neointima	KLF5 MMP9	4.37e-05	6	51	2	C2936380
Disease	Unilateral agenesis of kidney	FRAS1 FREM1	8.15e-05	8	51	2	C0266294
Disease	cystic fibrosis (is_marker_for)	CXCR3 TLR5 MMP9	1.71e-04	62	51	3	DOID:1485 (is_marker_for)
Disease	intracranial aneurysm (is_marker_for)	KLF5 MMP9	2.63e-04	14	51	2	DOID:10941 (is_marker_for)
Disease	thoracic aortic aneurysm (is_marker_for)	CXCR3 MMP9	2.63e-04	14	51	2	DOID:14004 (is_marker_for)
Disease	pulmonary emphysema (is_marker_for)	CXCR3 MMP9	2.63e-04	14	51	2	DOID:9675 (is_marker_for)
Disease	Trigonocephaly	FREM1 ZIC1	3.46e-04	16	51	2	C0265535
Disease	Scaphycephaly	FREM1 ZIC1	3.46e-04	16	51	2	C0265534
Disease	Synostotic Posterior Plagiocephaly	FREM1 ZIC1	3.46e-04	16	51	2	C1833340
Disease	Synostotic Anterior Plagiocephaly	FREM1 ZIC1	3.46e-04	16	51	2	C2931150
Disease	Metopic synostosis	FREM1 ZIC1	3.46e-04	16	51	2	C1860819
Disease	Craniosynostosis, Type 1	FREM1 ZIC1	3.46e-04	16	51	2	C4551902
Disease	Acrocephaly	FREM1 ZIC1	3.46e-04	16	51	2	C0030044
Disease	Brachycephaly	FREM1 ZIC1	3.92e-04	17	51	2	C0221356
Disease	Craniosynostosis	FREM1 ZIC1	5.46e-04	20	51	2	C0010278
Disease	aspartate aminotransferase to alanine aminotransferase ratio	SUPV3L1 SLC39A4 ATP8B1 OSGIN1	7.78e-04	239	51	4	EFO_0010934
Disease	fear of minor pain measurement	SLC39A4 TRMT12	1.32e-03	31	51	2	EFO_0008340
Disease	Chronic Obstructive Airway Disease	KLF5 MMP9	1.49e-03	33	51	2	C0024117
Disease	Chronic Airflow Obstruction	KLF5 MMP9	1.49e-03	33	51	2	C1527303
Disease	brain ischemia (implicated_via_orthology)	FGA MMP9	1.68e-03	35	51	2	DOID:2316 (implicated_via_orthology)

Protein segments in the cluster

Peptide	Gene	Start	Entry
LFALPDFIFLSAHHD	CXCR3	181	P49682
LAFDDLLAGAAHHSQ	CHTF18	676	Q8WVB6
AQHPSALRFLADHGA	BRAT1	131	Q6PJG6
HLGAAAAGEDDLFLH	BHLHE22	6	Q8NFJ8
LHALHAAIDAPDFFG	ANKRD66	96	B4E2M5
VLLPLAHFFLSHGEA	AP5Z1	366	O43299
HPELHLFLEHVDGFD	AMPD2	611	Q01433
HDMFPLHLAVLFGFS	ANKRD52	371	Q8NB46
DFHSAGIHVLFPSAF	ATP8B1	1116	O43520
AVDSAFPLLHALADH	AIRE	21	O43918
AHSELHELFPDFAAL	C17orf113	586	A0A1B0GUU1
HFSGDHLNLTDPFLE	RAD54B	876	Q9Y620
AALAGHPRAHFLDAD	PAFAH1B3	161	Q15102
FLVAAHEFGHALGLD	MMP9	396	P14780
DPDGFSALHHAALNG	CASKIN1	46	Q8WXD9
ALALAEFAVLPHHSE	FRAS1	11	Q86XX4
GHRKFLAAAHNPADE	GOLGA8T	541	H3BQL2
FHPDALALARRHEGF	DNAAF2	146	Q9NVR5
GDIHFDHFHPCAALT	DDX60	996	Q8IY21
ALFLALLAGAHAEFP	PLTP	6	P55058
LFPDVLHPFFIHDGA	OR51J1	101	Q9H342
ALFAAAIHDVDHPGV	PDE4A	466	P27815
PFFSFSHRHLDAGKL	FREM1	686	Q5H8C1
PHVALFTFDGLDELH	NOD1	276	Q9Y239
GAAKFVFRHNDPDHL	ALAS2	296	P22557
HASAFIHADIPEFLF	MEI1	316	Q5TIA1
FLHAAFHEGSAEDGP	ASPHD2	326	Q6ICH7
PLHHIFSAAGDDLLD	CDK7	256	P50613
LDGFRHRHPDEAAFF	FGA	506	P02671
AHEAIFDLDLPHLAF	ITIH6	66	Q6UXX5
ETGLPFHVNGHFALD	SACS	2876	Q9NZJ4
GAFSALGAFHPDHRA	CNTROB	666	Q8N137
NHFFHDGVDFNPDLL	MED1	856	Q15648
ALPFIHHELSALEAA	OSGIN1	261	Q9UJX0
HPHAFAFAAAAAAAP	FOXD2	291	O60548
SHFDGIRALAFHPIE	STRN	461	O43815
SPDGHELPFLFEQAH	PLEKHH3	506	Q7Z736
GFDLRFPHHDNELAQ	CARS1	366	P49589
HELPHELGDFAALLH	SLC39A4	536	Q6P5W5
GAAHADDLFPFFLRH	SUPV3L1	151	Q8IYB8
PISAFHSEGLNHDFL	OSBPL2	181	Q9H1P3
FPGSEELHHILFAIF	OR9A4	16	Q8NGU2
AVFCHELPHELGDFA	SLC39A6	631	Q13433
FGHDSELFKAVLHNP	NLRP9	671	Q7RTR0
ALAELHAHGPAAFVD	ZSWIM9	361	Q86XI8
RLAAFPAHHGFVAAA	TEP1	1876	Q99973
PAHHGFVAAALFLHA	TEP1	1881	Q99973
LDLHFPSDHLGDLGD	TFE3	501	P19532
HAEPAVLEAGAHALY	STAG3	636	Q9UJ98
GFASGIFHLHELPEF	PWP2	306	Q15269
AFPALHFLALDASQH	TXNDC15	236	Q96J42
DAAGHLLFPGLHEQA	ZIC1	136	Q15915
LLFPGLHEQAAGHAS	ZIC1	141	Q15915
PFLVHAGAAFVHACE	TRMT12	251	Q53H54
HPDAFQGLFHLFELR	TLR5	111	O60602
ADFFGFSHPAIHNLI	TBRG1	291	Q3YBR2
AGSFHFTAEILPDHD	ZNF736	76	B4DX44
RDAALFPGEELKHAH	KLF5	41	Q13887