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
ENST00000493293	[[183155372, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183210396]]	[[183155487, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183209534]]
ENST00000264144	[[183155422, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183209526], [183212281, 183214035]]	[[183155487, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183209526], [183212281, 183212535]]
ENST00000461729	[[183208635, 183209333], [183209436, 183209514]]	None
ENST00000476255	[[183212568, 183212603], [183212691, 183212844], [183212942, 183213041]]	None
NM_018891	[[183155173, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183210406]]	[[183155487, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183209534]]
NM_005562	[[183155173, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183209526], [183212281, 183214262]]	[[183155487, 183155566], [183177015, 183177204], [183184587, 183184723], [183187524, 183187623], [183189959, 183190096], [183191223, 183191346], [183192269, 183192459], [183194742, 183194855], [183195832, 183196051], [183196649, 183196832], [183197508, 183197754], [183200095, 183200238], [183201321, 183201478], [183201786, 183201992], [183203501, 183203581], [183204709, 183204865], [183205594, 183205739], [183206486, 183206639], [183207441, 183207556], [183208498, 183208698], [183209174, 183209333], [183209426, 183209526], [183212281, 183212535]]

Promoter

Chrom	Start	End	Description
chr1	183155389	183155406	CAGE_peak_1_at_LAMC2_5end
chr1	183208494	183208511	CAGE_peak_9_at_LAMC2_5end
chr1	183208516	183208541	CAGE_peak_6_at_LAMC2_5end
chr1	183208543	183208558	CAGE_peak_8_at_LAMC2_5end
chr1	183208607	183208635	CAGE_peak_4_at_LAMC2_5end
chr1	183208643	183208654	CAGE_peak_10_at_LAMC2_5end
chr1	183208657	183208675	CAGE_peak_3_at_LAMC2_5end
chr1	183212294	183212340	CAGE_peak_2_at_LAMC2_5end
chr1	183212409	183212419	CAGE_peak_12_at_LAMC2_5end
chr1	183212478	183212492	CAGE_peak_7_at_LAMC2_5end
chr1	183212542	183212560	CAGE_peak_13_at_LAMC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I183469	183469707	183473909	2.37	[{'connected_gene': 'SMG7', 'score': 580.95}, {'connected_gene': 'SMG7-AS1', 'score': 567.89}, {'connected_gene': 'DHX9', 'score': 178.51}, {'connected_gene': 'LAMC1-AS1', 'score': 75.11}, {'connected_gene': 'HMGN1P4', 'score': 47.24}, {'connected_gene': 'ENSG00000271387', 'score': 20.32}, {'connected_gene': 'LAMC1', 'score': 18.5}, {'connected_gene': 'RNASEL', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.22}, {'connected_gene': 'NCF2', 'score': 5.31}, {'connected_gene': 'LOC105371646', 'score': 0.28}]
chr1	GH01I183230	183230026	183231121	0.31	[{'connected_gene': 'SHCBP1L', 'score': 10.88}, {'connected_gene': 'LOC100271717', 'score': 10.88}, {'connected_gene': 'LAMC2', 'score': 10.82}, {'connected_gene': 'RNU6-41P', 'score': 10.68}, {'connected_gene': 'RPS3AP8', 'score': 0.28}]
chr1	GH01I182600	182600966	182604995	2.43	[{'connected_gene': 'RGS16', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 33.72}, {'connected_gene': 'RNASEL', 'score': 23.09}, {'connected_gene': 'LAMC1-AS1', 'score': 21.83}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'LAMC1', 'score': 11.35}, {'connected_gene': 'LAMC2', 'score': 10.19}, {'connected_gene': 'GC01M182527', 'score': 0.44}]
chr1	GH01I183240	183239435	183239495	0.38	[{'connected_gene': 'LAMC2', 'score': 10.87}, {'connected_gene': 'SHCBP1L', 'score': 10.67}, {'connected_gene': 'LOC100271717', 'score': 10.67}, {'connected_gene': 'RNU6-41P', 'score': 9.92}, {'connected_gene': 'RPS3AP8', 'score': 0.31}]
chr1	GH01I183291	183291600	183292574	0.71	[{'connected_gene': 'LAMC2', 'score': 18.24}, {'connected_gene': 'APOBEC4', 'score': 9.88}, {'connected_gene': 'RPS3AP8', 'score': 0.31}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183194	183194238	183200235	1.2	[{'connected_gene': 'LAMC2', 'score': 25.49}, {'connected_gene': 'LAMC1', 'score': 8.82}, {'connected_gene': 'RPS3AP8', 'score': 0.2}]
chr1	GH01I183190	183190860	183193467	1	[{'connected_gene': 'LAMC2', 'score': 28.75}, {'connected_gene': 'LAMC1', 'score': 8.73}, {'connected_gene': 'RPS3AP8', 'score': 0.19}]
chr1	GH01I182962	182962106	182963346	1.14	[{'connected_gene': 'LAMC2', 'score': 5.14}, {'connected_gene': 'KRT18P28', 'score': 0.77}, {'connected_gene': 'GC01M182983', 'score': 0.37}, {'connected_gene': 'RNU6-41P', 'score': 0.37}]
chr1	GH01I183287	183287055	183288109	0.84	[{'connected_gene': 'LAMC2', 'score': 6.74}, {'connected_gene': 'NMNAT2', 'score': 2.08}, {'connected_gene': 'RPS3AP8', 'score': 0.34}]
chr1	GH01I183364	183364995	183366005	0.31	[{'connected_gene': 'LAMC2', 'score': 5.57}, {'connected_gene': 'NMNAT2', 'score': 0.23}, {'connected_gene': 'RPS3AP8', 'score': 0.15}]
chr1	GH01I183184	183184416	183189818	2	[{'connected_gene': 'LAMC2', 'score': 601.28}, {'connected_gene': 'DHX9', 'score': 23.3}, {'connected_gene': 'HMGN1P4', 'score': 10.67}, {'connected_gene': 'LAMC1-AS1', 'score': 10.45}, {'connected_gene': 'LAMC1', 'score': 7.44}, {'connected_gene': 'RPS3AP8', 'score': 0.18}]
chr1	GH01I183158	183158891	183166780	1.56	[{'connected_gene': 'LAMC2', 'score': 32.46}, {'connected_gene': 'LAMC1-AS1', 'score': 7.11}, {'connected_gene': 'LAMC1', 'score': 6.17}]
chr1	GH01I183178	183178420	183181717	1.37	[{'connected_gene': 'LAMC2', 'score': 18.3}, {'connected_gene': 'LAMC1-AS1', 'score': 0.28}]
chr1	GH01I183212	183212267	183213266	0.38	[{'connected_gene': 'LAMC2', 'score': 19.7}, {'connected_gene': 'RNU6-41P', 'score': 10.08}, {'connected_gene': 'RPS3AP8', 'score': 0.23}]
chr1	GH01I183148	183148149	183150000	0.99	[{'connected_gene': 'LAMC2', 'score': 18.26}, {'connected_gene': 'ARPC5', 'score': 4.09}, {'connected_gene': 'LAMC1-AS1', 'score': 0.44}]
chr1	GH01I183239	183239796	183245255	0.82	[{'connected_gene': 'LAMC2', 'score': 17.35}, {'connected_gene': 'LOC100271717', 'score': 10.67}, {'connected_gene': 'SHCBP1L', 'score': 10.67}, {'connected_gene': 'RNU6-41P', 'score': 9.91}, {'connected_gene': 'SMG7', 'score': 4.89}, {'connected_gene': 'RPS3AP8', 'score': 0.34}]
chr1	GH01I183238	183237097	183237179	0.2	[{'connected_gene': 'LAMC2', 'score': 10.87}, {'connected_gene': 'LOC100271717', 'score': 10.67}, {'connected_gene': 'SHCBP1L', 'score': 10.67}, {'connected_gene': 'RNU6-41P', 'score': 9.92}, {'connected_gene': 'RPS3AP8', 'score': 0.31}]
chr1	GH01I183228	183228001	183228400	0.86	[{'connected_gene': 'LAMC2', 'score': 17.41}, {'connected_gene': 'LOC100271717', 'score': 10.88}, {'connected_gene': 'SHCBP1L', 'score': 10.88}, {'connected_gene': 'RNU6-41P', 'score': 10.68}, {'connected_gene': 'RPS3AP8', 'score': 0.28}]
chr1	GH01I183237	183237595	183238946	0.2	[{'connected_gene': 'LAMC2', 'score': 17.68}, {'connected_gene': 'LOC100271717', 'score': 10.67}, {'connected_gene': 'SHCBP1L', 'score': 10.67}, {'connected_gene': 'RNU6-41P', 'score': 9.92}, {'connected_gene': 'RPS3AP8', 'score': 0.31}]
chr1	GH01I183299	183299940	183300199	0.2	[{'connected_gene': 'LAMC2', 'score': 10.86}, {'connected_gene': 'RPS3AP8', 'score': 0.29}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183263	183263742	183265137	0.31	[{'connected_gene': 'LAMC2', 'score': 7.14}, {'connected_gene': 'RPS3AP8', 'score': 0.77}, {'connected_gene': 'NMNAT2', 'score': 0.1}]
chr1	GH01I183301	183301113	183302000	0.46	[{'connected_gene': 'LAMC2', 'score': 10.85}, {'connected_gene': 'RPS3AP8', 'score': 0.28}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183307	183307608	183308578	0.31	[{'connected_gene': 'LAMC2', 'score': 7.79}, {'connected_gene': 'RPS3AP8', 'score': 0.26}, {'connected_gene': 'NMNAT2', 'score': 0.14}]
chr1	GH01I183209	183209078	183210437	0.97	[{'connected_gene': 'LAMC2', 'score': 6.74}, {'connected_gene': 'RPS3AP8', 'score': 0.22}]
chr1	GH01I183202	183202218	183202680	0.35	[{'connected_gene': 'LAMC2', 'score': 21.53}, {'connected_gene': 'RPS3AP8', 'score': 0.21}]
chr1	GH01I183204	183204805	183206094	0.84	[{'connected_gene': 'LAMC2', 'score': 13.43}, {'connected_gene': 'RPS3AP8', 'score': 0.21}]
chr1	GH01I183200	183200286	183201010	0.38	[{'connected_gene': 'LAMC2', 'score': 24.1}, {'connected_gene': 'RPS3AP8', 'score': 0.2}]
chr1	GH01I183233	183233935	183237059	1.17	[{'connected_gene': 'LAMC2', 'score': 18.14}, {'connected_gene': 'HMGN1P4', 'score': 13.32}, {'connected_gene': 'DHX9', 'score': 11.53}, {'connected_gene': 'SHCBP1L', 'score': 10.67}, {'connected_gene': 'LOC100271717', 'score': 10.67}, {'connected_gene': 'SMG7', 'score': 10.03}, {'connected_gene': 'RNU6-41P', 'score': 9.92}, {'connected_gene': 'RPS3AP8', 'score': 0.29}]
chr1	GH01I183329	183329703	183332311	0.74	[{'connected_gene': 'SMG7-AS1', 'score': 7.64}, {'connected_gene': 'LAMC2', 'score': 7.38}, {'connected_gene': 'NMNAT2', 'score': 4.79}, {'connected_gene': 'RPS3AP8', 'score': 0.21}]
chr1	GH01I182388	182388321	182393358	2.28	[{'connected_gene': 'GLUL', 'score': 556.48}, {'connected_gene': 'DHX9', 'score': 57.9}, {'connected_gene': 'HMGN1P4', 'score': 36.02}, {'connected_gene': 'LAMC1-AS1', 'score': 22.64}, {'connected_gene': 'RNASEL', 'score': 19.55}, {'connected_gene': 'LAMC2', 'score': 10.18}, {'connected_gene': 'TEDDM1', 'score': 5.54}, {'connected_gene': 'EIF1P3', 'score': 0.23}]
chr1	GH01I183222	183222584	183222881	0.41	[{'connected_gene': 'NMNAT2', 'score': 1.34}, {'connected_gene': 'LAMC2', 'score': 0.28}, {'connected_gene': 'RPS3AP8', 'score': 0.26}]
chr1	GH01I183217	183217532	183220521	1.15	[{'connected_gene': 'DHX9', 'score': 36.46}, {'connected_gene': 'LAMC2', 'score': 19.98}, {'connected_gene': 'LAMC1-AS1', 'score': 12.63}, {'connected_gene': 'HMGN1P4', 'score': 11.12}, {'connected_gene': 'RNU6-41P', 'score': 10.47}, {'connected_gene': 'RPS3AP8', 'score': 0.25}]
chr1	GH01I183270	183270168	183274324	1.44	[{'connected_gene': 'DHX9', 'score': 13.24}, {'connected_gene': 'RNU6-41P', 'score': 10.14}, {'connected_gene': 'LAMC2', 'score': 6.52}, {'connected_gene': 'LAMC1', 'score': 2.11}, {'connected_gene': 'RPS3AP8', 'score': 0.44}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1	GH01I184050	184050440	184053087	2.1	[{'connected_gene': 'TSEN15', 'score': 558.53}, {'connected_gene': 'COLGALT2', 'score': 550.77}, {'connected_gene': 'LAMC1-AS1', 'score': 20.2}, {'connected_gene': 'RNF2', 'score': 17.87}, {'connected_gene': 'ENSG00000271387', 'score': 11.92}, {'connected_gene': 'SMG7', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.18}, {'connected_gene': 'GC01M184052', 'score': 0.31}]
chr1	GH01I183288	183288682	183290043	0.38	[{'connected_gene': 'LAMC1-AS1', 'score': 10.31}, {'connected_gene': 'DHX9', 'score': 9.83}, {'connected_gene': 'LAMC2', 'score': 7.18}, {'connected_gene': 'RPS3AP8', 'score': 0.34}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183277	183277449	183284234	1.52	[{'connected_gene': 'LOC100271717', 'score': 10.6}, {'connected_gene': 'SHCBP1L', 'score': 10.6}, {'connected_gene': 'LAMC2', 'score': 6.78}, {'connected_gene': 'NCF2', 'score': 2.68}, {'connected_gene': 'ARPC5', 'score': 2.02}, {'connected_gene': 'LAMC1', 'score': 1.74}, {'connected_gene': 'RPS3AP8', 'score': 0.39}, {'connected_gene': 'NMNAT2', 'score': 0.12}]
chr1	GH01I183227	183227806	183227955	0.59	[{'connected_gene': 'LOC100271717', 'score': 10.88}, {'connected_gene': 'SHCBP1L', 'score': 10.88}, {'connected_gene': 'LAMC2', 'score': 10.82}, {'connected_gene': 'RNU6-41P', 'score': 10.68}, {'connected_gene': 'RPS3AP8', 'score': 0.28}]
chr1	GH01I183274	183274732	183275770	0.2	[{'connected_gene': 'LOC100271717', 'score': 10.16}, {'connected_gene': 'SHCBP1L', 'score': 10.16}, {'connected_gene': 'RNU6-41P', 'score': 10.14}, {'connected_gene': 'LAMC2', 'score': 5.85}, {'connected_gene': 'RPS3AP8', 'score': 0.44}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1	GH01I183267	183267392	183269350	0.89	[{'connected_gene': 'RPS3AP8', 'score': 550.77}, {'connected_gene': 'LAMC2', 'score': 6.53}, {'connected_gene': 'NMNAT2', 'score': 0.1}]
chr1	GH01I183262	183262960	183263531	0.38	[{'connected_gene': 'RPS3AP8', 'score': 0.77}, {'connected_gene': 'LAMC2', 'score': 0.18}, {'connected_gene': 'NMNAT2', 'score': 0.1}]
chr1	GH01I182888	182888631	182890539	0.66	[{'connected_gene': 'GC01P182890', 'score': 550.77}, {'connected_gene': 'LAMC2', 'score': 4.68}, {'connected_gene': 'GC01M182794', 'score': 0.39}]