PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000341294	[[46416474, 46418036]]	[[46417534, 46417951]]
NM_001029861	[[46416471, 46418036]]	[[46417534, 46417951]]

Promoter

Chrom	Start	End	Description
chr19	46418033	46418036	CAGE_peak_1_at_NANOS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I027543	27543844	27547544	1.2	[{'connected_gene': 'KSR1', 'score': 36.11}, {'connected_gene': 'TMEM199', 'score': 11.62}, {'connected_gene': 'NOS2', 'score': 5.25}, {'connected_gene': 'LGALS9', 'score': 4.99}, {'connected_gene': 'PIR50901', 'score': 0.44}, {'connected_gene': 'PIR39350', 'score': 0.21}]
chr19	GH19I045927	45927303	45928417	1.23	[{'connected_gene': 'CCDC61', 'score': 40.95}, {'connected_gene': 'SYMPK', 'score': 34.19}, {'connected_gene': 'CLASRP', 'score': 32.18}, {'connected_gene': 'ENSG00000269148', 'score': 22.3}, {'connected_gene': 'ENSG00000268810', 'score': 19.02}, {'connected_gene': 'PNMA8A', 'score': 17.23}, {'connected_gene': 'PPP5D1', 'score': 14.77}, {'connected_gene': 'FBXO46', 'score': 14.11}, {'connected_gene': 'MYPOP', 'score': 12.68}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'IRF2BP1', 'score': 11.28}, {'connected_gene': 'FOXA3', 'score': 10.96}, {'connected_gene': 'PNMA8B', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.23}, {'connected_gene': 'NOVA2', 'score': 10.04}, {'connected_gene': 'DM1-AS', 'score': 10.02}, {'connected_gene': 'ENSG00000269124', 'score': 9.77}, {'connected_gene': 'FKRP', 'score': 4.67}, {'connected_gene': 'NANOS2', 'score': 0.39}, {'connected_gene': 'GC19M045925', 'score': 0.31}]
chr17	GH17I027950	27950810	27953014	0.54	[{'connected_gene': 'SEBOX', 'score': 13.96}, {'connected_gene': 'NOS2', 'score': 4.2}, {'connected_gene': 'LINC01992', 'score': 0.28}, {'connected_gene': 'LYRM9', 'score': 0.22}, {'connected_gene': 'GC17M027891', 'score': 0.22}]
chr19	GH19I045492	45492131	45494252	2.19	[{'connected_gene': 'RTN2', 'score': 557.37}, {'connected_gene': 'PPM1N', 'score': 29.58}, {'connected_gene': 'CLASRP', 'score': 13.16}, {'connected_gene': 'CCDC61', 'score': 12.57}, {'connected_gene': 'ZNF180', 'score': 12.44}, {'connected_gene': 'NKPD1', 'score': 2.27}, {'connected_gene': 'NANOS2', 'score': 2.03}, {'connected_gene': 'EXOC3L2', 'score': 1.7}]
chr17	GH17I027647	27647328	27648655	0.62	[{'connected_gene': 'LGALS9', 'score': 28.99}, {'connected_gene': 'NOS2', 'score': 10.61}, {'connected_gene': 'NOS2P1', 'score': 0.37}]
chr17	GH17I027797	27797202	27798318	0.56	[{'connected_gene': 'LGALS9', 'score': 4.83}, {'connected_gene': 'NOS2', 'score': 0.44}, {'connected_gene': 'PIR36820', 'score': 0.26}]
chr17	GH17I027800	27800159	27801264	1.15	[{'connected_gene': 'NOS2', 'score': 550.77}, {'connected_gene': 'SLC13A2', 'score': 4.7}, {'connected_gene': 'LGALS9', 'score': 3.9}, {'connected_gene': 'PIR36820', 'score': 0.25}, {'connected_gene': 'ENSG00000266202', 'score': 0.16}]
chr19	GH19I045914	45914768	45914827	0.5	[{'connected_gene': 'NANOS2', 'score': 550.77}, {'connected_gene': 'SYMPK', 'score': 10.85}, {'connected_gene': 'FOXA3', 'score': 10.85}, {'connected_gene': 'DMWD', 'score': 10.14}, {'connected_gene': 'MYPOP', 'score': 0.39}]
chr17	GH17I027651	27651535	27651704	0.66	[{'connected_gene': 'NOS2', 'score': 10.61}, {'connected_gene': 'NOS2P1', 'score': 0.39}, {'connected_gene': 'LGALS9', 'score': 0.34}]
chr17	GH17I027967	27967947	27968861	1.13	[{'connected_gene': 'NOS2', 'score': 10.15}, {'connected_gene': 'PYY2', 'score': 6.99}, {'connected_gene': 'LINC01992', 'score': 0.34}, {'connected_gene': 'LYRM9', 'score': 0.19}, {'connected_gene': 'GC17M027891', 'score': 0.19}]
chr17	GH17I027940	27940655	27940804	0.58	[{'connected_gene': 'NOS2', 'score': 12.02}, {'connected_gene': 'LYRM9', 'score': 11.06}, {'connected_gene': 'GC17M027891', 'score': 0.25}, {'connected_gene': 'LINC01992', 'score': 0.23}]
chr17	GH17I027817	27817188	27819812	0.66	[{'connected_gene': 'NOS2', 'score': 10.94}, {'connected_gene': 'LYRM9', 'score': 10.81}, {'connected_gene': 'ENSG00000266527', 'score': 0.22}, {'connected_gene': 'ENSG00000266202', 'score': 0.19}]
chr17	GH17I027844	27844855	27847000	0.88	[{'connected_gene': 'NOS2', 'score': 24.4}, {'connected_gene': 'LYRM9', 'score': 10.81}, {'connected_gene': 'ENSG00000266527', 'score': 0.31}, {'connected_gene': 'ENSG00000266202', 'score': 0.25}]
chr17	GH17I027805	27805055	27806741	1.06	[{'connected_gene': 'NOS2', 'score': 550.77}, {'connected_gene': 'LYRM9', 'score': 10.94}, {'connected_gene': 'ENSG00000266527', 'score': 0.2}, {'connected_gene': 'ENSG00000266202', 'score': 0.17}]
chr17	GH17I027849	27849075	27849224	0.38	[{'connected_gene': 'NOS2', 'score': 11.14}, {'connected_gene': 'LYRM9', 'score': 10.5}, {'connected_gene': 'ENSG00000266527', 'score': 0.31}, {'connected_gene': 'ENSG00000266202', 'score': 0.26}]
chr17	GH17I027878	27878742	27879965	0.54	[{'connected_gene': 'NOS2', 'score': 67.29}, {'connected_gene': 'LYRM9', 'score': 7.77}, {'connected_gene': 'ENSG00000266527', 'score': 0.77}, {'connected_gene': 'GC17P027886', 'score': 0.44}, {'connected_gene': 'ENSG00000266202', 'score': 0.39}]
chr17	GH17I027848	27848289	27848856	0.31	[{'connected_gene': 'NOS2', 'score': 11.33}, {'connected_gene': 'LYRM9', 'score': 10.81}, {'connected_gene': 'ENSG00000266527', 'score': 0.31}, {'connected_gene': 'ENSG00000266202', 'score': 0.26}]
chr17	GH17I027880	27880115	27880264	0.71	[{'connected_gene': 'NOS2', 'score': 11.88}, {'connected_gene': 'ENSG00000266527', 'score': 0.44}, {'connected_gene': 'GC17P027886', 'score': 0.44}, {'connected_gene': 'ENSG00000266202', 'score': 0.39}, {'connected_gene': 'LYRM9', 'score': 0.39}]
chr17	GH17I027888	27888092	27890142	1	[{'connected_gene': 'NOS2', 'score': 60.05}, {'connected_gene': 'ENSG00000266202', 'score': 0.77}, {'connected_gene': 'GC17P027886', 'score': 0.77}, {'connected_gene': 'LYRM9', 'score': 0.44}]
chr17	GH17I027830	27830000	27830201	0.31	[{'connected_gene': 'NOS2', 'score': 11.32}, {'connected_gene': 'PROCA1', 'score': 5.63}, {'connected_gene': 'ENSG00000266527', 'score': 0.26}, {'connected_gene': 'ENSG00000266202', 'score': 0.21}]
chr17	GH17I027944	27944643	27945544	0.67	[{'connected_gene': 'NOS2', 'score': 27.75}, {'connected_gene': 'LINC01992', 'score': 0.25}, {'connected_gene': 'LYRM9', 'score': 0.23}, {'connected_gene': 'GC17M027891', 'score': 0.23}]
chr17	GH17I027945	27945884	27947409	0.56	[{'connected_gene': 'NOS2', 'score': 13.98}, {'connected_gene': 'LINC01992', 'score': 0.25}, {'connected_gene': 'LYRM9', 'score': 0.23}, {'connected_gene': 'GC17M027891', 'score': 0.23}]
chr17	GH17I027861	27861066	27862964	0.75	[{'connected_gene': 'NOS2', 'score': 23.89}, {'connected_gene': 'ENSG00000266527', 'score': 0.39}, {'connected_gene': 'ENSG00000266202', 'score': 0.29}]
chr17	GH17I027803	27803535	27803684	0.43	[{'connected_gene': 'NOS2', 'score': 550.77}, {'connected_gene': 'PIR36820', 'score': 0.23}, {'connected_gene': 'ENSG00000266202', 'score': 0.17}]
chr19	GH19I045629	45629628	45633344	1.37	[{'connected_gene': 'EML2', 'score': 9.64}, {'connected_gene': 'IGFL4', 'score': 4.85}, {'connected_gene': 'NKPD1', 'score': 2.06}, {'connected_gene': 'NANOS2', 'score': 1.93}, {'connected_gene': 'EXOC3L2', 'score': 1.48}, {'connected_gene': 'GC19M045633', 'score': 0.77}, {'connected_gene': 'PIR54112', 'score': 0.34}]
chr17	GH17I027809	27809825	27812749	0.97	[{'connected_gene': 'LYRM9', 'score': 16.61}, {'connected_gene': 'NOS2', 'score': 12.78}, {'connected_gene': 'LGALS9', 'score': 3.76}, {'connected_gene': 'ENSG00000266527', 'score': 0.21}, {'connected_gene': 'ENSG00000266202', 'score': 0.18}]
chr17	GH17I027807	27807488	27809376	1.09	[{'connected_gene': 'LYRM9', 'score': 14.75}, {'connected_gene': 'NOS2', 'score': 5.11}, {'connected_gene': 'ENSG00000266527', 'score': 0.2}, {'connected_gene': 'ENSG00000266202', 'score': 0.18}]
chr17	GH17I027760	27760135	27760264	0.76	[{'connected_gene': 'LYRM9', 'score': 11.22}, {'connected_gene': 'NOS2', 'score': 11.11}, {'connected_gene': 'PIR36820', 'score': 0.44}]
chr17	GH17I028403	28403896	28408945	2.01	[{'connected_gene': 'SLC46A1', 'score': 550.77}, {'connected_gene': 'ENSG00000265254', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 14.68}, {'connected_gene': 'NUFIP2', 'score': 14.11}, {'connected_gene': 'NEK8', 'score': 12.24}, {'connected_gene': 'ENSG00000264577', 'score': 11.53}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'POLDIP2', 'score': 10.68}, {'connected_gene': 'ITM2BP1', 'score': 10.47}, {'connected_gene': 'TMEM97', 'score': 5.09}, {'connected_gene': 'NOS2', 'score': 3.92}, {'connected_gene': 'GC17P028402', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.26}]
chr19	GH19I045952	45952359	45957018	1.14	[{'connected_gene': 'GC19M045925', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 19.19}, {'connected_gene': 'MYPOP', 'score': 11.48}, {'connected_gene': 'MIR769', 'score': 11.28}, {'connected_gene': 'PGLYRP1', 'score': 11.27}, {'connected_gene': 'SYMPK', 'score': 11.01}, {'connected_gene': 'FOXA3', 'score': 11.01}, {'connected_gene': 'IGFL4', 'score': 10.12}, {'connected_gene': 'HIF3A', 'score': 9.88}, {'connected_gene': 'DMWD', 'score': 4.69}, {'connected_gene': 'ERCC1', 'score': 4.5}, {'connected_gene': 'NOVA2', 'score': 0.37}, {'connected_gene': 'NANOS2', 'score': 0.28}]
chr17	GH17I028277	28277811	28279000	0.95	[{'connected_gene': 'PIR58208', 'score': 550.77}, {'connected_gene': 'GC17M029101', 'score': 550.77}, {'connected_gene': 'TNFAIP1', 'score': 10.9}, {'connected_gene': 'IFT20', 'score': 10.9}, {'connected_gene': 'NOS2', 'score': 3.97}, {'connected_gene': 'PIRC93', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.28}]
chr17	GH17I027793	27793351	27794200	0.74	[{'connected_gene': 'ENSG00000202389', 'score': 10.29}, {'connected_gene': 'ENSG00000251818', 'score': 10.29}, {'connected_gene': 'LGALS9', 'score': 9.12}, {'connected_gene': 'NOS2', 'score': 0.39}, {'connected_gene': 'PIR36820', 'score': 0.26}]
chr17	GH17I027971	27971835	27973154	0.2	[{'connected_gene': 'ENSG00000251818', 'score': 10.59}, {'connected_gene': 'ENSG00000202389', 'score': 10.59}, {'connected_gene': 'NOS2', 'score': 9.48}, {'connected_gene': 'LYRM9', 'score': 4.82}, {'connected_gene': 'LINC01992', 'score': 0.37}, {'connected_gene': 'GC17M027891', 'score': 0.18}]
chr17	GH17I027871	27871639	27871664	0.38	[{'connected_gene': 'ENSG00000266527', 'score': 0.77}, {'connected_gene': 'ENSG00000266202', 'score': 0.34}, {'connected_gene': 'NOS2', 'score': 0.2}]
chr17	GH17I027873	27873875	27874124	0.71	[{'connected_gene': 'ENSG00000266527', 'score': 550.77}, {'connected_gene': 'NOS2', 'score': 16.67}, {'connected_gene': 'ENSG00000266202', 'score': 0.37}]
chr17	GH17I027884	27884349	27884408	0.5	[{'connected_gene': 'GC17P027886', 'score': 550.77}, {'connected_gene': 'LYRM9', 'score': 550.39}, {'connected_gene': 'NOS2', 'score': 10.76}, {'connected_gene': 'ENSG00000266202', 'score': 0.44}, {'connected_gene': 'ENSG00000266527', 'score': 0.44}]
chr17	GH17I027892	27892409	27894367	1.93	[{'connected_gene': 'ENSG00000266202', 'score': 550.77}, {'connected_gene': 'LYRM9', 'score': 550.77}, {'connected_gene': 'GC17M027891', 'score': 550.77}, {'connected_gene': 'NOS2', 'score': 26.48}]