Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
HumanPheno	Multiple joint contractures	IFIH1 COL6A1 ADAR MED12	2.95e-05	70	14	4	HP:0002828
HumanPheno	Abnormality of skin physiology	IFIH1 CYP4F22 COL6A1 SCN11A ADAR MED12 MVK FAM111B	5.10e-05	593	14	8	HP:0011122
Domain	Ion_trans_dom	SCN11A TRPM7	1.17e-02	114	27	2	IPR005821
Domain	Ion_trans	SCN11A TRPM7	1.17e-02	114	27	2	PF00520
Pubmed	An Aicardi-Goutières Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice.	IFIH1 ADAR	6.71e-07	2	29	2	34772697
Pubmed	Mutations in the adenosine deaminase ADAR1 that prevent endogenous Z-RNA binding induce Aicardi-Goutières-syndrome-like encephalopathy.	IFIH1 ADAR	6.71e-07	2	29	2	34525338
Pubmed	5-HT2CR antagonist/5-HT2CR inverse agonist recovered the increased isolation-induced aggressive behavior of BALB/c mice mediated by ADAR1 (p110) expression and Htr2c RNA editing.	HTR2C ADAR	6.71e-07	2	29	2	29541541
Pubmed	Cardiac valve involvement in ADAR-related type I interferonopathy.	IFIH1 ADAR	6.71e-07	2	29	2	31772029
Pubmed	ADAR1-mediated RNA editing is required for thymic self-tolerance and inhibition of autoimmunity.	IFIH1 ADAR	6.71e-07	2	29	2	30361393
Pubmed	RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself.	IFIH1 ADAR	6.71e-07	2	29	2	26275108
Pubmed	ADAR1 RNA editing regulates endothelial cell functions via the MDA-5 RNA sensing signaling pathway.	IFIH1 ADAR	6.71e-07	2	29	2	34969816
Pubmed	NPY-Y1 coexpressed with NPY-Y5 receptors modulate anxiety but not mild social stress response in mice.	BMPR1B NPY1R	6.71e-07	2	29	2	26178014
Pubmed	Hepatocyte-macrophage crosstalk via the PGRN-EGFR axis modulates ADAR1-mediated immunity in the liver.	IFIH1 ADAR	6.71e-07	2	29	2	38935501
Pubmed	ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing.	IFIH1 ADAR	6.71e-07	2	29	2	37421629
Pubmed	Disrupted RNA editing in beta cells mimics early-stage type 1 diabetes.	IFIH1 ADAR	2.01e-06	3	29	2	38128529
Pubmed	ADAR1 Regulates Early T Cell Development via MDA5-Dependent and -Independent Pathways.	IFIH1 ADAR	2.01e-06	3	29	2	32169840
Pubmed	ADAR1-Dependent RNA Editing Promotes MET and iPSC Reprogramming by Alleviating ER Stress.	IFIH1 ADAR	2.01e-06	3	29	2	32396862
Pubmed	The roles of phospholipase C activation and alternative ADAR1 and ADAR2 pre-mRNA splicing in modulating serotonin 2C-receptor editing in vivo.	HTR2C ADAR	2.01e-06	3	29	2	20651031
Pubmed	What do editors do? Understanding the physiological functions of A-to-I RNA editing by adenosine deaminase acting on RNAs.	IFIH1 ADAR	2.01e-06	3	29	2	32603639
Pubmed	ADAR1p150 prevents MDA5 and PKR activation via distinct mechanisms to avert fatal autoinflammation.	IFIH1 ADAR	2.01e-06	3	29	2	37797622
Pubmed	Single nucleotide polymorphisms in PNPLA3, ADAR-1 and IFIH1 are associated with advanced liver fibrosis in patients co-infected with HIV-1//hepatitis C virus.	IFIH1 ADAR	2.01e-06	3	29	2	34482352
Pubmed	The phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant.	IFIH1 ADAR	2.01e-06	3	29	2	36975179
Pubmed	The majority of A-to-I RNA editing is not required for mammalian homeostasis.	IFIH1 ADAR	4.02e-06	4	29	2	31815657
Pubmed	A comparative analysis of ADAR mutant mice reveals site-specific regulation of RNA editing.	IFIH1 ADAR	4.02e-06	4	29	2	31941663
Pubmed	Large-scale mRNA sequencing determines global regulation of RNA editing during brain development.	HTR2C ADAR	4.02e-06	4	29	2	19420382
Pubmed	Adenosine deaminase acting on RNA-1 is essential for early B lymphopoiesis.	IFIH1 ADAR	6.70e-06	5	29	2	36417848
Pubmed	Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity.	IFIH1 ADAR	1.41e-05	7	29	2	38427731
Pubmed	Protein kinase R and the integrated stress response drive immunopathology caused by mutations in the RNA deaminase ADAR1.	IFIH1 ADAR	1.41e-05	7	29	2	34343497
Pubmed	Aicardi-Goutières Syndrome	IFIH1 ADAR	1.41e-05	7	29	2	20301648
Pubmed	RNA editing at a limited number of sites is sufficient to prevent MDA5 activation in the mouse brain.	IFIH1 ADAR	1.41e-05	7	29	2	33983932
Pubmed	Isoforms of RNA-Editing Enzyme ADAR1 Independently Control Nucleic Acid Sensor MDA5-Driven Autoimmunity and Multi-organ Development.	IFIH1 ADAR	1.41e-05	7	29	2	26588779
Pubmed	ADAR1 mutation causes ZBP1-dependent immunopathology.	IFIH1 ADAR	1.41e-05	7	29	2	35859177
Pubmed	An internal deletion of ADAR rescued by MAVS deficiency leads to a minute phenotype.	IFIH1 ADAR	1.41e-05	7	29	2	31956894
Pubmed	Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.	IFIH1 ADAR	1.41e-05	7	29	2	27643693
Pubmed	Protein recoding by ADAR1-mediated RNA editing is not essential for normal development and homeostasis.	IFIH1 ADAR	4.41e-05	12	29	2	28874170
Pubmed	ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.	IFIH1 ADAR	6.07e-05	14	29	2	34380029
Pubmed	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	B3GNT2 ARAP1	1.02e-04	18	29	2	22446963
Pubmed	High-resolution comparative physical mapping of mouse chromosome 10 in the region of homology with human chromosome 21.	COL6A1 AGPAT3	1.99e-04	25	29	2	10051316
Pubmed	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	BEST1 AGPAT3	2.69e-04	29	29	2	21829377
Pubmed	Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.	NPY1R HTR2C	2.88e-04	30	29	2	19077438
Pubmed	Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.	COL6A1 AGPAT3	3.70e-04	34	29	2	10613844
Pubmed	Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.	NPY1R FAM111B	6.21e-04	44	29	2	22645275
Pubmed	Brn3a regulates the transition from neurogenesis to terminal differentiation and represses non-neural gene expression in the trigeminal ganglion.	NPY1R B3GNT2	6.50e-04	45	29	2	19877281
Cytoband	21q22.3	COL6A1 AGPAT3	2.98e-03	128	29	2	21q22.3
Coexpression	GSE9960_HEALTHY_VS_GRAM_NEG_AND_POS_SEPSIS_PBMC_UP	HTR2C TM6SF2 ARAP1 AGPAT3	5.18e-05	187	29	4	M7123
Coexpression	GSE5503_PLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_DN	IFIH1 ZSCAN20 B3GNT2 AGPAT3	6.73e-05	200	29	4	M297
Coexpression	GSE22935_UNSTIM_VS_24H_MBOVIS_BCG_STIM_MACROPHAGE_DN	IFIH1 TMEM39A ADAR AGPAT3	6.73e-05	200	29	4	M7750
ToppCell	frontal_cortex-Neuronal-glutamatergic_neuron-L6_IT-L6_IT_ALM_Tgfb1\|frontal_cortex / Per Region, Lineage, Cell class, Cell type, Cell subtype	IFIH1 COL6A1 BMPR1B MEI1	2.31e-06	145	29	4	84d50a13b48d50c16e768422908e371a55972d0e
ToppCell	frontal_cortex-Neuronal-glutamatergic_neuron-L6_IT\|frontal_cortex / Per Region, Lineage, Cell class, Cell type, Cell subtype	IFIH1 COL6A1 BMPR1B MEI1	3.25e-06	158	29	4	9e0589f770920f8ac41cfe5cd0a29e9e7a04a308
Disease	Autoinflammatory disorder	IFIH1 ADAR MVK	4.91e-06	35	28	3	C3860213
Disease	Aicardi-Goutieres Syndrome 2	IFIH1 ADAR	1.30e-05	6	28	2	C3489724
Disease	AICARDI-GOUTIERES SYNDROME 1	IFIH1 ADAR	1.30e-05	6	28	2	C0796126
Disease	Pseudo-TORCH syndrome	IFIH1 ADAR	1.82e-05	7	28	2	C3489725
Disease	AICARDI-GOUTIERES SYNDROME	IFIH1 ADAR	2.42e-05	8	28	2	C0393591
Disease	Graves Disease	IFIH1 B3GNT2	3.11e-05	9	28	2	C0018213
Disease	Aicardi-Goutieres syndrome (is_implicated_in)	IFIH1 ADAR	3.11e-05	9	28	2	DOID:0050629 (is_implicated_in)
Disease	level of Phosphatidylcholine (16:0_22:5) in blood serum	BEST1 AGPAT3	1.32e-04	18	28	2	OBA_2045079
Disease	level of Phosphatidylcholine (18:1_20:4) in blood serum	BEST1 TM6SF2	1.80e-04	21	28	2	OBA_2045104
Disease	level of Phosphatidylcholine (16:0_20:4) in blood serum	BEST1 TM6SF2	1.80e-04	21	28	2	OBA_2045076
Disease	anxiety disorder (implicated_via_orthology)	NPY1R HTR2C	1.98e-04	22	28	2	DOID:2030 (implicated_via_orthology)
Disease	Ovarian Serous Adenocarcinoma	MYO3A TRPM7	2.17e-04	23	28	2	C1335177
Disease	level of Phosphatidylcholine (17:0_20:4) in blood serum	BEST1 TM6SF2	2.78e-04	26	28	2	OBA_2045087
Disease	docosapentaenoic acid measurement	BEST1 AGPAT3	3.00e-04	27	28	2	EFO_0006809
Disease	level of Sterol ester (27:1/20:4) in blood serum	BEST1 TM6SF2	3.97e-04	31	28	2	OBA_2045198
Disease	degree of unsaturation measurement	BEST1 TM6SF2	6.30e-04	39	28	2	EFO_0022261
Disease	lysophosphatidylcholine 20:3 measurement	BEST1 TM6SF2	6.62e-04	40	28	2	EFO_0010362
Disease	Gastric Adenocarcinoma	BMPR1B TRPM7	8.38e-04	45	28	2	C0278701
Disease	omega-6 polyunsaturated fatty acid measurement	TMEM39A TM6SF2 MVK	8.49e-04	197	28	3	EFO_0005680

Protein segments in the cluster

Peptide	Gene	Start	Entry
FNKIYRRAFSNYLRC	HTR2C	371	P28335
LCYYIIRFIYRLALT	BEST1	41	O76090
RLQYLCHKYIFYRRL	FAM186B	706	Q8IYM0
LIILFCYFRYKRQET	BMPR1B	141	O00238
AYLSRRLAYFCTRRL	MED12	291	Q93074
LRRYLQYYRACVLST	TUBGCP6	436	Q96RT7
AARQRQYCILLLFYL	MEI1	686	Q5TIA1
FIFICYFKIYIRLKR	NPY1R	226	P25929
CRIYLLRILHTYYKF	EIF3CL	501	B5ME19
IFLLFKKLCSFRYRR	ADAR	1161	P55265
TKRFIDNLRDRYYRC	COL6A1	66	P12109
FRYLISCFRARVKMY	IFIH1	11	Q9BYX4
RNYYFCSLPRKYRQI	FAM111B	346	Q6SJ93
AFIFLIIKSYRKYRR	C1orf162	56	Q8NEQ5
CLRYYNILFRRTFKL	PIWIL3	221	Q7Z3Z3
FRLLLRFLRLCRSFY	CYP4F22	36	Q6NT55
FKDFLLYLRCRNYSL	B3GNT2	116	Q9NY97
DRYFILNSSCLRLYK	ARAP1	1301	Q96P48
KYGRDFLLRFRFCSI	ANGEL1	506	Q9UNK9
VYRRKLCQDRLFYFT	TRMO	386	Q9BU70
CRYRFKNLLRSYRKA	ZSCAN20	536	P17040
VSKQLYRRLNCRLAY	AGPAT3	41	Q9NRZ7
AFLYLYLSICRKQRA	MVK	111	Q03426
FCNYYVLFKLLRDRI	TMEM39A	456	Q9NV64
GRTRCRLFIYYFVIL	XKR4	451	Q5GH76
LECLIKIFALRQYYF	SCN11A	1411	Q9UI33
ICRRKRYRNFGLYWL	TM6SF2	131	Q9BZW4
CTYTRKRFRLIYNSL	TRPM7	526	Q96QT4
RILFANFIKRYYLLC	MYO3A	991	Q8NEV4