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
ENST00000340650	[[18120717, 18122851]]	[[18121649, 18122837]]
NM_198586	[[18120717, 18122851]]	[[18121649, 18122837]]

Promoter

Chrom	Start	End	Description
chr6	18122843	18122916	CAGE_peak_1_at_NHLRC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I018241	18241151	18243885	1.05	[{'connected_gene': 'NUP153', 'score': 13.44}, {'connected_gene': 'DEK', 'score': 12.96}, {'connected_gene': 'IMPDH1P9', 'score': 11.66}, {'connected_gene': 'LOC105374952', 'score': 10.01}, {'connected_gene': 'NHLRC1', 'score': 9.78}, {'connected_gene': 'KDM1B', 'score': 0.17}]
chr6	GH06I017903	17903601	17909999	1.44	[{'connected_gene': 'NUP153', 'score': 21.9}, {'connected_gene': 'KIF13A', 'score': 19.49}, {'connected_gene': 'LOC105374952', 'score': 15.92}, {'connected_gene': 'DEK', 'score': 13.66}, {'connected_gene': 'NHLRC1', 'score': 10.66}, {'connected_gene': 'GC06P017893', 'score': 0.39}, {'connected_gene': 'RPS12P12', 'score': 0.25}]
chr6	GH06I017819	17819970	17820440	0.92	[{'connected_gene': 'NUP153', 'score': 11.91}, {'connected_gene': 'NHLRC1', 'score': 11.09}, {'connected_gene': 'GC06P017812', 'score': 0.44}, {'connected_gene': 'LOC105374953', 'score': 0.29}, {'connected_gene': 'KIF13A', 'score': 0.1}]
chr6	GH06I018160	18160530	18162179	0.63	[{'connected_gene': 'TPMT', 'score': 9.91}, {'connected_gene': 'NHLRC1', 'score': 9.13}, {'connected_gene': 'KDM1B', 'score': 0.44}, {'connected_gene': 'DEK', 'score': 0.15}]
chr6	GH06I018152	18152450	18156690	2.58	[{'connected_gene': 'TPMT', 'score': 570.69}, {'connected_gene': 'KDM1B', 'score': 552.37}, {'connected_gene': 'NHLRC1', 'score': 20.15}, {'connected_gene': 'RNF144B', 'score': 5.63}]
chr6	GH06I145508	145508285	145508434	0.46	[{'connected_gene': 'LOC645749', 'score': 0.37}, {'connected_gene': 'GC06M145570', 'score': 0.21}, {'connected_gene': 'PIR36569', 'score': 0.21}, {'connected_gene': 'EPM2A', 'score': 0.07}]
chr6	GH06I018020	18020480	18020840	0.52	[{'connected_gene': 'KIF13A', 'score': 12.26}, {'connected_gene': 'NHLRC1', 'score': 11.1}, {'connected_gene': 'FAM8A1', 'score': 4.92}, {'connected_gene': 'GC06P018054', 'score': 0.29}, {'connected_gene': 'GC06P017969', 'score': 0.23}]
chr6	GH06I018022	18022314	18023893	0.97	[{'connected_gene': 'KIF13A', 'score': 11.98}, {'connected_gene': 'NHLRC1', 'score': 10.81}, {'connected_gene': 'FAM8A1', 'score': 5.34}, {'connected_gene': 'GC06P018054', 'score': 0.29}, {'connected_gene': 'GC06P017969', 'score': 0.23}]
chr6	GH06I017825	17825736	17826893	0.2	[{'connected_gene': 'KIF13A', 'score': 16.72}, {'connected_gene': 'NHLRC1', 'score': 11.2}, {'connected_gene': 'KDM1B', 'score': 11.01}, {'connected_gene': 'TPMT', 'score': 11.01}, {'connected_gene': 'GC06P017812', 'score': 0.39}, {'connected_gene': 'LOC105374953', 'score': 0.34}]
chr6	GH06I017927	17927633	17934799	1.83	[{'connected_gene': 'KIF13A', 'score': 19.25}, {'connected_gene': 'NHLRC1', 'score': 10.23}, {'connected_gene': 'LOC105374952', 'score': 5.33}, {'connected_gene': 'RNF144B', 'score': 2.73}, {'connected_gene': 'KDM1B', 'score': 2.59}, {'connected_gene': 'RPS12P12', 'score': 0.34}, {'connected_gene': 'GC06P017893', 'score': 0.28}]
chr6	GH06I017837	17837579	17840286	0.38	[{'connected_gene': 'KIF13A', 'score': 17.77}, {'connected_gene': 'NHLRC1', 'score': 10.1}, {'connected_gene': 'LOC105374952', 'score': 7.3}, {'connected_gene': 'LOC105374953', 'score': 0.39}, {'connected_gene': 'GC06P017812', 'score': 0.31}]
chr6	GH06I017846	17846051	17849256	0.6	[{'connected_gene': 'KIF13A', 'score': 18.4}, {'connected_gene': 'NHLRC1', 'score': 11.13}, {'connected_gene': 'LOC105374952', 'score': 5.42}, {'connected_gene': 'LOC105374953', 'score': 0.77}, {'connected_gene': 'GC06P017812', 'score': 0.28}]
chr6	GH06I017949	17949937	17950897	0.31	[{'connected_gene': 'KIF13A', 'score': 16.62}, {'connected_gene': 'NHLRC1', 'score': 10.52}, {'connected_gene': 'RPS12P12', 'score': 0.77}, {'connected_gene': 'GC06P017893', 'score': 0.22}]
chr6	GH06I017935	17935001	17936400	0.77	[{'connected_gene': 'KIF13A', 'score': 18.94}, {'connected_gene': 'NHLRC1', 'score': 10.02}, {'connected_gene': 'RPS12P12', 'score': 0.37}, {'connected_gene': 'GC06P017893', 'score': 0.26}]
chr6	GH06I017923	17923577	17925787	0.78	[{'connected_gene': 'KIF13A', 'score': 18.75}, {'connected_gene': 'NHLRC1', 'score': 10.51}, {'connected_gene': 'RPS12P12', 'score': 0.31}, {'connected_gene': 'GC06P017893', 'score': 0.29}]
chr6	GH06I017938	17938890	17939738	0.72	[{'connected_gene': 'KIF13A', 'score': 11.31}, {'connected_gene': 'NHLRC1', 'score': 10.02}, {'connected_gene': 'RPS12P12', 'score': 0.39}, {'connected_gene': 'GC06P017893', 'score': 0.25}]
chr6	GH06I017957	17957201	17958308	0.94	[{'connected_gene': 'KIF13A', 'score': 12.36}, {'connected_gene': 'NHLRC1', 'score': 10.25}, {'connected_gene': 'RPS12P12', 'score': 0.77}, {'connected_gene': 'GC06P017969', 'score': 0.39}]
chr6	GH06I017940	17940275	17940638	0.31	[{'connected_gene': 'KIF13A', 'score': 11.31}, {'connected_gene': 'NHLRC1', 'score': 10.02}, {'connected_gene': 'RPS12P12', 'score': 0.39}, {'connected_gene': 'GC06P017893', 'score': 0.25}]
chr6	GH06I017943	17943431	17946486	0.38	[{'connected_gene': 'KIF13A', 'score': 11.32}, {'connected_gene': 'NHLRC1', 'score': 10.66}, {'connected_gene': 'RPS12P12', 'score': 0.44}, {'connected_gene': 'GC06P017893', 'score': 0.23}]
chr6	GH06I017875	17875697	17878322	1.29	[{'connected_gene': 'KIF13A', 'score': 18.64}, {'connected_gene': 'NHLRC1', 'score': 10.28}, {'connected_gene': 'GC06P017868', 'score': 0.44}, {'connected_gene': 'GC06P017862', 'score': 0.39}, {'connected_gene': 'GC06P017893', 'score': 0.37}]
chr6	GH06I018015	18015254	18018671	0.73	[{'connected_gene': 'KIF13A', 'score': 12.55}, {'connected_gene': 'NHLRC1', 'score': 11.27}, {'connected_gene': 'GC06P018054', 'score': 0.28}, {'connected_gene': 'GC06P017969', 'score': 0.25}]
chr6	GH06I018027	18027855	18029822	0.38	[{'connected_gene': 'KIF13A', 'score': 11.95}, {'connected_gene': 'NHLRC1', 'score': 10.06}, {'connected_gene': 'GC06P018054', 'score': 0.34}, {'connected_gene': 'GC06P017969', 'score': 0.22}]
chr6	GH06I018042	18042425	18043999	1.19	[{'connected_gene': 'KIF13A', 'score': 11.12}, {'connected_gene': 'NHLRC1', 'score': 10.87}, {'connected_gene': 'GC06P018054', 'score': 0.39}]
chr6	GH06I018047	18047192	18048223	0.4	[{'connected_gene': 'KIF13A', 'score': 11.48}, {'connected_gene': 'NHLRC1', 'score': 10.31}, {'connected_gene': 'GC06P018054', 'score': 0.44}]
chr6	GH06I018044	18044650	18044799	0.52	[{'connected_gene': 'KIF13A', 'score': 11.12}, {'connected_gene': 'NHLRC1', 'score': 10.87}, {'connected_gene': 'GC06P018054', 'score': 0.44}]
chr6	GH06I145818	145818905	145819114	0.2	[{'connected_gene': 'EPM2A', 'score': 6.21}, {'connected_gene': 'FBXO30', 'score': 0.77}, {'connected_gene': 'GC06P145825', 'score': 0.44}, {'connected_gene': 'LOC100507557', 'score': 0.18}]
chr6	GH06I018146	18146696	18149239	1.46	[{'connected_gene': 'NHLRC1', 'score': 19.85}, {'connected_gene': 'TPMT', 'score': 19.7}, {'connected_gene': 'KIF13A', 'score': 10.73}, {'connected_gene': 'RNF144B', 'score': 6.87}, {'connected_gene': 'KDM1B', 'score': 1.69}]
chr6	GH06I018164	18164325	18168829	0.6	[{'connected_gene': 'NHLRC1', 'score': 17.5}, {'connected_gene': 'TPMT', 'score': 17.03}, {'connected_gene': 'KDM1B', 'score': 0.39}, {'connected_gene': 'DEK', 'score': 0.15}]
chr6	GH06I018191	18191016	18191949	0.2	[{'connected_gene': 'NHLRC1', 'score': 10.86}, {'connected_gene': 'TPMT', 'score': 6.24}, {'connected_gene': 'KDM1B', 'score': 0.28}, {'connected_gene': 'DEK', 'score': 0.19}]
chr6	GH06I018162	18162299	18163615	0.2	[{'connected_gene': 'NHLRC1', 'score': 10.8}, {'connected_gene': 'TPMT', 'score': 9.85}, {'connected_gene': 'KDM1B', 'score': 0.44}, {'connected_gene': 'DEK', 'score': 0.15}]
chr6	GH06I018184	18184607	18187201	0.92	[{'connected_gene': 'NHLRC1', 'score': 10.87}, {'connected_gene': 'TPMT', 'score': 10.08}, {'connected_gene': 'KDM1B', 'score': 0.29}, {'connected_gene': 'DEK', 'score': 0.18}]
chr6	GH06I018121	18121774	18123319	1.96	[{'connected_gene': 'NHLRC1', 'score': 561.54}, {'connected_gene': 'TPMT', 'score': 9.85}, {'connected_gene': 'GC06P018054', 'score': 0.2}]
chr6	GH06I017815	17815450	17815599	0.7	[{'connected_gene': 'NHLRC1', 'score': 10.87}, {'connected_gene': 'KIF13A', 'score': 10.58}, {'connected_gene': 'RNU6-190P', 'score': 10.51}, {'connected_gene': 'GC06P017812', 'score': 0.77}, {'connected_gene': 'LOC105374953', 'score': 0.29}]
chr6	GH06I017817	17817390	17817539	0.46	[{'connected_gene': 'NHLRC1', 'score': 10.87}, {'connected_gene': 'KIF13A', 'score': 10.58}, {'connected_gene': 'RNU6-190P', 'score': 10.51}, {'connected_gene': 'LOC105374952', 'score': 6.82}, {'connected_gene': 'GC06P017812', 'score': 0.44}, {'connected_gene': 'LOC105374953', 'score': 0.29}]
chr6	GH06I017804	17804290	17804439	0.77	[{'connected_gene': 'NHLRC1', 'score': 10.22}, {'connected_gene': 'GC06P017809', 'score': 0.77}, {'connected_gene': 'GC06M017738', 'score': 0.2}, {'connected_gene': 'KIF13A', 'score': 0.09}]
chr6	GH06I017970	17970850	17973199	1.32	[{'connected_gene': 'NHLRC1', 'score': 10.39}, {'connected_gene': 'GC06P017969', 'score': 0.77}, {'connected_gene': 'GC06P017985', 'score': 0.39}, {'connected_gene': 'KIF13A', 'score': 0.37}]
chr6	GH06I018150	18150640	18151003	0.22	[{'connected_gene': 'NHLRC1', 'score': 11.46}, {'connected_gene': 'KDM1B', 'score': 3.37}, {'connected_gene': 'NUP153', 'score': 1.76}, {'connected_gene': 'TPMT', 'score': 0.77}]
chr6	GH06I145705	145705600	145706001	0.63	[{'connected_gene': 'EPM2A', 'score': 12.67}, {'connected_gene': 'LOC100507557', 'score': 0.31}, {'connected_gene': 'GC06P145589', 'score': 0.13}]
chr6	GH06I018119	18119350	18119499	0.31	[{'connected_gene': 'NHLRC1', 'score': 8.71}, {'connected_gene': 'GC06P018054', 'score': 0.2}]
chr6	GH06I017715	17714310	17714459	1.04	[{'connected_gene': 'RNU6-190P', 'score': 9.87}, {'connected_gene': 'NHLRC1', 'score': 9.19}, {'connected_gene': 'NUP153', 'score': 0.44}, {'connected_gene': 'RNA5SP204', 'score': 0.44}, {'connected_gene': 'GC06M017721', 'score': 0.44}]
chr6	GH06I017714	17714467	17716647	1.86	[{'connected_gene': 'RNU6-190P', 'score': 9.86}, {'connected_gene': 'NHLRC1', 'score': 9.19}, {'connected_gene': 'NUP153', 'score': 7.81}, {'connected_gene': 'RNA5SP204', 'score': 0.44}, {'connected_gene': 'GC06M017721', 'score': 0.44}]
chr6	GH06I017850	17850826	17852712	0.76	[{'connected_gene': 'LOC105374953', 'score': 550.77}, {'connected_gene': 'KIF13A', 'score': 19.31}, {'connected_gene': 'NHLRC1', 'score': 10.52}, {'connected_gene': 'GC06P017862', 'score': 0.39}]
chr6	GH06I145532	145532445	145532594	0.31	[{'connected_gene': 'LOC100507557', 'score': 11.76}, {'connected_gene': 'GC06M145570', 'score': 0.28}, {'connected_gene': 'PIR36569', 'score': 0.28}, {'connected_gene': 'LOC645749', 'score': 0.26}, {'connected_gene': 'EPM2A', 'score': 0.08}]
chr6	GH06I145482	145482494	145484459	0.59	[{'connected_gene': 'LOC100507557', 'score': 10.01}, {'connected_gene': 'EPM2A', 'score': 8.18}, {'connected_gene': 'SHPRH', 'score': 4.18}, {'connected_gene': 'LOC645749', 'score': 0.44}, {'connected_gene': 'RNU1-33P', 'score': 0.34}, {'connected_gene': 'GC06M145464', 'score': 0.34}]
chr6	GH06I145733	145733617	145737579	2.1	[{'connected_gene': 'LOC100507557', 'score': 567.96}, {'connected_gene': 'EPM2A', 'score': 557.45}, {'connected_gene': 'ENSG00000270638', 'score': 550.77}, {'connected_gene': 'ENSG00000270828', 'score': 550.77}, {'connected_gene': 'SHPRH', 'score': 22.78}]
chr6	GH06I145863	145863601	145868206	0.89	[{'connected_gene': 'LOC100507557', 'score': 19.43}, {'connected_gene': 'EPM2A', 'score': 6.76}, {'connected_gene': 'GC06P145874', 'score': 0.44}, {'connected_gene': 'GC06P145856', 'score': 0.44}, {'connected_gene': 'SHPRH', 'score': 0.15}]
chr6	GH06I145634	145634125	145634274	0.63	[{'connected_gene': 'LOC100507557', 'score': 12.35}, {'connected_gene': 'GC06P145589', 'score': 0.26}, {'connected_gene': 'EPM2A', 'score': 0.15}]
chr6	GH06I145688	145688685	145688834	0.56	[{'connected_gene': 'LOC100507557', 'score': 0.25}, {'connected_gene': 'EPM2A', 'score': 0.25}, {'connected_gene': 'GC06P145589', 'score': 0.15}]
chr6	GH06I145543	145543695	145545204	0.38	[{'connected_gene': 'LOC100507557', 'score': 15.64}, {'connected_gene': 'SHPRH', 'score': 5.52}, {'connected_gene': 'GC06M145570', 'score': 0.34}, {'connected_gene': 'PIR36569', 'score': 0.34}, {'connected_gene': 'LOC645749', 'score': 0.23}, {'connected_gene': 'EPM2A', 'score': 0.08}]
chr6	GH06I145668	145668771	145670671	0.63	[{'connected_gene': 'LOC100507557', 'score': 17.0}, {'connected_gene': 'SHPRH', 'score': 4.38}, {'connected_gene': 'EPM2A', 'score': 0.2}, {'connected_gene': 'GC06P145589', 'score': 0.18}]
chr6	GH06I145698	145698279	145700460	0.49	[{'connected_gene': 'LOC100507557', 'score': 17.75}, {'connected_gene': 'SHPRH', 'score': 4.38}, {'connected_gene': 'EPM2A', 'score': 0.28}, {'connected_gene': 'GC06P145589', 'score': 0.14}]
chr6	GH06I145392	145392157	145392454	0.22	[{'connected_gene': 'LOC100507557', 'score': 5.46}, {'connected_gene': 'RNU1-33P', 'score': 0.19}, {'connected_gene': 'GC06M145464', 'score': 0.19}, {'connected_gene': 'TRQ-TTG4-1', 'score': 0.08}, {'connected_gene': 'EPM2A', 'score': 0.05}]
chr6	GH06I145537	145537589	145537603	0.23	[{'connected_gene': 'GC06M145570', 'score': 0.29}, {'connected_gene': 'PIR36569', 'score': 0.29}, {'connected_gene': 'LOC645749', 'score': 0.25}, {'connected_gene': 'EPM2A', 'score': 0.08}]
chr6	GH06I017967	17967986	17969342	0.89	[{'connected_gene': 'GC06P017969', 'score': 550.77}, {'connected_gene': 'NHLRC1', 'score': 10.39}, {'connected_gene': 'KIF13A', 'score': 4.5}, {'connected_gene': 'RPS12P12', 'score': 0.37}]
chr6	GH06I018055	18055504	18057590	1.15	[{'connected_gene': 'GC06P018054', 'score': 0.77}, {'connected_gene': 'NHLRC1', 'score': 0.2}]
chr6	GH06I145656	145656081	145656214	0.22	[{'connected_gene': 'GC06P145589', 'score': 0.2}, {'connected_gene': 'LOC100507557', 'score': 0.18}, {'connected_gene': 'EPM2A', 'score': 0.18}]