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
ENST00000409509	[[67241041, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244225], [67257728, 67257830], [67260877, 67260913]]	[[67241507, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244091]]
ENST00000409037	[[67241042, 67241407], [67241501, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244988]]	[[67241507, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244091]]
ENST00000393992	[[67241042, 67241407], [67241501, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244225], [67257728, 67257830], [67260532, 67260721]]	[[67241507, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244091]]
ENST00000341546	[[67241042, 67241407], [67241501, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244225], [67257728, 67257830], [67260877, 67260901]]	[[67241507, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244091]]
ENST00000433915	[[67241550, 67241676], [67241775, 67241993], [67243950, 67244251], [67257728, 67257830], [67260877, 67260916]]	[[67241550, 67241676], [67241775, 67241993], [67243950, 67244091]]
ENST00000424285	[[67241782, 67241993], [67242214, 67242358], [67243950, 67244225], [67257728, 67257830], [67260727, 67260780]]	[[67241782, 67241993], [67242214, 67242358], [67243950, 67244091]]
ENST00000447579	[[67242292, 67242697], [67243950, 67244225], [67257728, 67257830], [67260532, 67260691]]	[[67242292, 67242697], [67243950, 67244091]]
ENST00000462169	[[67244250, 67244873], [67257728, 67257830], [67260877, 67260930]]	None
ENST00000485549	[[67244642, 67245003], [67257728, 67257830], [67260877, 67260951]]	None
NM_012163	[[67241041, 67241407], [67241501, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244225], [67257728, 67257830], [67260532, 67260721]]	[[67241507, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244091]]
NM_001004055	[[67241041, 67241407], [67241501, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244225], [67257728, 67257830], [67260877, 67260901]]	[[67241507, 67241676], [67241775, 67241993], [67242214, 67242358], [67243950, 67244091]]

Promoter

Chrom	Start	End	Description
chr16	67260701	67260716	CAGE_peak_3_at_LRRC29_5end
chr16	67260905	67260952	CAGE_peak_1_at_LRRC29_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I067114	67114403	67117604	1.41	[{'connected_gene': 'ATP6V0D1', 'score': 12.65}, {'connected_gene': 'C16orf70', 'score': 5.69}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'CBFB', 'score': 5.0}, {'connected_gene': 'KIAA0895L', 'score': 4.08}, {'connected_gene': 'RIPOR1', 'score': 2.25}, {'connected_gene': 'LRRC29', 'score': 1.9}, {'connected_gene': 'FHOD1', 'score': 1.33}, {'connected_gene': 'PIR51258', 'score': 0.29}]
chr16	GH16I067216	67216638	67217848	0.95	[{'connected_gene': 'ATP6V0D1', 'score': 15.32}, {'connected_gene': 'EXOC3L1', 'score': 12.42}, {'connected_gene': 'E2F4', 'score': 12.42}, {'connected_gene': 'KIAA0895L', 'score': 12.41}, {'connected_gene': 'ACD', 'score': 11.09}, {'connected_gene': 'CES2', 'score': 9.98}, {'connected_gene': 'CDH16', 'score': 9.97}, {'connected_gene': 'RRAD', 'score': 9.97}, {'connected_gene': 'ZDHHC1', 'score': 9.83}, {'connected_gene': 'GC16M067211', 'score': 0.44}, {'connected_gene': 'LOC105369155', 'score': 0.44}, {'connected_gene': 'LRRC29', 'score': 0.44}]
chr16	GH16I067345	67345073	67345940	0.2	[{'connected_gene': 'ATP6V0D1', 'score': 16.33}, {'connected_gene': 'RNU1-123P', 'score': 11.66}, {'connected_gene': 'TPPP3', 'score': 11.66}, {'connected_gene': 'PLEKHG4', 'score': 11.57}, {'connected_gene': 'ZDHHC1', 'score': 11.35}, {'connected_gene': 'HSD11B2', 'score': 11.13}, {'connected_gene': 'LRRC36', 'score': 11.05}, {'connected_gene': 'TMEM208', 'score': 10.26}, {'connected_gene': 'LRRC29', 'score': 10.26}, {'connected_gene': 'ELMO3', 'score': 10.11}, {'connected_gene': 'MIR328', 'score': 10.11}]
chr16	GH16I067479	67479572	67484532	2.56	[{'connected_gene': 'ATP6V0D1', 'score': 577.25}, {'connected_gene': 'LOC101927837', 'score': 550.77}, {'connected_gene': 'AGRP', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 38.46}, {'connected_gene': 'ENKD1', 'score': 31.93}, {'connected_gene': 'NAE1', 'score': 28.3}, {'connected_gene': 'EDC4', 'score': 24.27}, {'connected_gene': 'CENPT', 'score': 23.87}, {'connected_gene': 'CTCF', 'score': 21.56}, {'connected_gene': 'SLC7A6OS', 'score': 18.46}, {'connected_gene': 'E2F4', 'score': 17.02}, {'connected_gene': 'ENSG00000260465', 'score': 15.27}, {'connected_gene': 'RIPOR1', 'score': 13.75}, {'connected_gene': 'ENSG00000263276', 'score': 11.83}, {'connected_gene': 'ACD', 'score': 11.51}, {'connected_gene': 'CARMIL2', 'score': 10.97}, {'connected_gene': 'PLEKHG4', 'score': 10.97}, {'connected_gene': 'C16orf86', 'score': 10.79}, {'connected_gene': 'HSD11B2', 'score': 10.47}, {'connected_gene': 'PARD6A', 'score': 10.38}, {'connected_gene': 'ENSG00000260891', 'score': 10.2}, {'connected_gene': 'FBXL8', 'score': 9.91}, {'connected_gene': 'LCAT', 'score': 9.81}, {'connected_gene': 'LRRC36', 'score': 9.58}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PSMB10', 'score': 4.4}, {'connected_gene': 'C16orf70', 'score': 3.57}, {'connected_gene': 'LRRC29', 'score': 1.57}]
chr16	GH16I066977	66977600	66978001	1.36	[{'connected_gene': 'CES2', 'score': 19.71}, {'connected_gene': 'ELMO3', 'score': 14.55}, {'connected_gene': 'CBFB', 'score': 11.33}, {'connected_gene': 'B3GNT9', 'score': 11.21}, {'connected_gene': 'FBXL8', 'score': 11.14}, {'connected_gene': 'TRADD', 'score': 11.14}, {'connected_gene': 'HSF4', 'score': 11.13}, {'connected_gene': 'C16orf70', 'score': 10.91}, {'connected_gene': 'RRAD', 'score': 10.75}, {'connected_gene': 'CDH16', 'score': 10.74}, {'connected_gene': 'MIR328', 'score': 10.64}, {'connected_gene': 'KIAA0895L', 'score': 10.38}, {'connected_gene': 'E2F4', 'score': 10.38}, {'connected_gene': 'EXOC3L1', 'score': 10.38}, {'connected_gene': 'TMEM208', 'score': 9.63}, {'connected_gene': 'LRRC29', 'score': 9.63}, {'connected_gene': 'CES4A', 'score': 0.39}, {'connected_gene': 'CES3', 'score': 0.37}]
chr16	GH16I067527	67527850	67532282	2.48	[{'connected_gene': 'RIPOR1', 'score': 554.95}, {'connected_gene': 'LOC100505942', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 21.48}, {'connected_gene': 'NAE1', 'score': 20.42}, {'connected_gene': 'ENKD1', 'score': 20.01}, {'connected_gene': 'C16orf70', 'score': 15.81}, {'connected_gene': 'KIAA0895L', 'score': 14.38}, {'connected_gene': 'ACD', 'score': 13.91}, {'connected_gene': 'ATP6V0D1', 'score': 13.76}, {'connected_gene': 'EDC4', 'score': 12.03}, {'connected_gene': 'PRMT7', 'score': 11.02}, {'connected_gene': 'CENPT', 'score': 10.77}, {'connected_gene': 'SLC7A6OS', 'score': 10.07}, {'connected_gene': 'PSMB10', 'score': 5.71}, {'connected_gene': 'LRRC29', 'score': 4.05}, {'connected_gene': 'DPEP2', 'score': 3.97}, {'connected_gene': 'FHOD1', 'score': 3.25}, {'connected_gene': 'TPPP3', 'score': 2.38}, {'connected_gene': 'DDX28', 'score': 1.68}, {'connected_gene': 'HSF4', 'score': 1.35}, {'connected_gene': 'SLC9A5', 'score': 1.18}, {'connected_gene': 'ENSG00000261396', 'score': 0.39}]
chr16	GH16I067239	67239592	67249876	2.61	[{'connected_gene': 'SLC9A5', 'score': 550.44}, {'connected_gene': 'ATP6V0D1', 'score': 22.38}, {'connected_gene': 'FHOD1', 'score': 13.44}, {'connected_gene': 'ELMO3', 'score': 12.3}, {'connected_gene': 'NAE1', 'score': 11.28}, {'connected_gene': 'CENPT', 'score': 10.84}, {'connected_gene': 'EDC4', 'score': 10.77}, {'connected_gene': 'LRRC36', 'score': 9.47}, {'connected_gene': 'DPEP2', 'score': 7.83}, {'connected_gene': 'C16orf70', 'score': 7.75}, {'connected_gene': 'RIPOR1', 'score': 6.37}, {'connected_gene': 'LRRC29', 'score': 6.35}, {'connected_gene': 'ACD', 'score': 5.54}, {'connected_gene': 'KIAA0895L', 'score': 4.84}, {'connected_gene': 'RRAD', 'score': 2.33}, {'connected_gene': 'PLEKHG4', 'score': 1.6}]
chr16	GH16I066924	66924769	66929174	2.38	[{'connected_gene': 'RRAD', 'score': 558.09}, {'connected_gene': 'LRRC29', 'score': 5.52}, {'connected_gene': 'ACD', 'score': 4.29}, {'connected_gene': 'PLEKHG4', 'score': 3.55}, {'connected_gene': 'CBFB', 'score': 2.06}, {'connected_gene': 'FHOD1', 'score': 2.01}, {'connected_gene': 'FAM96B', 'score': 0.44}]
chr16	GH16I067403	67403051	67408161	1.23	[{'connected_gene': 'LRRC36', 'score': 17.03}, {'connected_gene': 'FBXL8', 'score': 15.44}, {'connected_gene': 'E2F4', 'score': 15.01}, {'connected_gene': 'CTCF', 'score': 14.44}, {'connected_gene': 'ENSG00000260465', 'score': 13.6}, {'connected_gene': 'ENSG00000270165', 'score': 13.06}, {'connected_gene': 'HSD11B2', 'score': 11.49}, {'connected_gene': 'RANBP10', 'score': 11.26}, {'connected_gene': 'PLEKHG4', 'score': 10.89}, {'connected_gene': 'EDC4', 'score': 10.46}, {'connected_gene': 'ENSG00000263276', 'score': 10.38}, {'connected_gene': 'ENSG00000262514', 'score': 10.07}, {'connected_gene': 'TMEM208', 'score': 9.83}, {'connected_gene': 'LRRC29', 'score': 9.83}, {'connected_gene': 'ATP6V0D1', 'score': 7.78}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'SLC7A6', 'score': 7.09}, {'connected_gene': 'PRMT7', 'score': 5.27}, {'connected_gene': 'TPPP3', 'score': 0.39}, {'connected_gene': 'ZDHHC1', 'score': 0.39}]
chr16	GH16I067413	67413092	67417067	2.31	[{'connected_gene': 'ZDHHC1', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 19.39}, {'connected_gene': 'ATP6V0D1', 'score': 17.89}, {'connected_gene': 'LRRC36', 'score': 17.05}, {'connected_gene': 'FHOD1', 'score': 11.25}, {'connected_gene': 'PLEKHG4', 'score': 10.82}, {'connected_gene': 'TMEM208', 'score': 9.72}, {'connected_gene': 'LRRC29', 'score': 9.72}, {'connected_gene': 'HSD11B2', 'score': 8.71}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'TPPP3', 'score': 0.34}]
chr16	GH16I067294	67294998	67295147	0.31	[{'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.34}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR58758', 'score': 0.77}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16	GH16I067295	67295198	67295347	0.31	[{'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.34}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR58758', 'score': 0.77}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16	GH16I067255	67255048	67260185	0.57	[{'connected_gene': 'TMEM208', 'score': 11.36}, {'connected_gene': 'LRRC29', 'score': 11.36}, {'connected_gene': 'EXOC3L1', 'score': 11.09}, {'connected_gene': 'E2F4', 'score': 11.09}, {'connected_gene': 'KIAA0895L', 'score': 11.08}, {'connected_gene': 'HSD11B2', 'score': 10.62}, {'connected_gene': 'ZDHHC1', 'score': 10.3}, {'connected_gene': 'LRRC36', 'score': 10.22}, {'connected_gene': 'ELMO3', 'score': 8.63}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'ATP6V0D1', 'score': 4.98}, {'connected_gene': 'FHOD1', 'score': 4.71}, {'connected_gene': 'ENSG00000262691', 'score': 0.77}, {'connected_gene': 'SLC9A5', 'score': 0.37}]
chr16	GH16I067225	67225678	67225827	0.43	[{'connected_gene': 'TMEM208', 'score': 550.77}, {'connected_gene': 'LOC105369155', 'score': 550.77}, {'connected_gene': 'LRRC29', 'score': 550.77}, {'connected_gene': 'ELMO3', 'score': 12.35}, {'connected_gene': 'GC16M067211', 'score': 0.39}]
chr16	GH16I067228	67228638	67228787	0.38	[{'connected_gene': 'TMEM208', 'score': 550.77}, {'connected_gene': 'LOC105369155', 'score': 550.77}, {'connected_gene': 'LRRC29', 'score': 550.77}, {'connected_gene': 'SLC9A5', 'score': 0.44}]
chr16	GH16I067226	67226139	67228359	2.09	[{'connected_gene': 'TMEM208', 'score': 550.77}, {'connected_gene': 'LOC105369155', 'score': 550.77}, {'connected_gene': 'LRRC29', 'score': 550.77}, {'connected_gene': 'EDC4', 'score': 16.4}, {'connected_gene': 'CENPT', 'score': 11.84}, {'connected_gene': 'NFATC3', 'score': 10.57}, {'connected_gene': 'KIAA0895L', 'score': 10.41}, {'connected_gene': 'DPEP2', 'score': 7.83}, {'connected_gene': 'LRRC36', 'score': 5.47}, {'connected_gene': 'SLC9A5', 'score': 0.39}]
chr16	GH16I066952	66952471	66954847	1.51	[{'connected_gene': 'CES3', 'score': 11.96}, {'connected_gene': 'LRRC29', 'score': 5.38}, {'connected_gene': 'LRRC36', 'score': 4.89}, {'connected_gene': 'GC16M066947', 'score': 0.77}, {'connected_gene': 'ENSG00000280416', 'score': 0.44}, {'connected_gene': 'ENSG00000265408', 'score': 0.39}]
chr16	GH16I067224	67224098	67224247	0.49	[{'connected_gene': 'LOC105369155', 'score': 0.77}, {'connected_gene': 'LRRC29', 'score': 0.77}, {'connected_gene': 'GC16M067211', 'score': 0.39}]
chr16	GH16I067442	67442850	67444607	0.77	[{'connected_gene': 'GC16M067444', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 19.81}, {'connected_gene': 'ZDHHC1', 'score': 11.46}, {'connected_gene': 'TMEM208', 'score': 9.46}, {'connected_gene': 'LRRC29', 'score': 9.46}, {'connected_gene': 'LRRC36', 'score': 9.14}, {'connected_gene': 'PRMT7', 'score': 5.64}, {'connected_gene': 'ENSG00000261320', 'score': 0.39}]
chr16	GH16I067444	67444650	67453164	1.07	[{'connected_gene': 'GC16M067447', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 32.08}, {'connected_gene': 'ZDHHC1', 'score': 11.67}, {'connected_gene': 'AGRP', 'score': 11.24}, {'connected_gene': 'RIPOR1', 'score': 10.41}, {'connected_gene': 'E2F4', 'score': 10.34}, {'connected_gene': 'EXOC3L1', 'score': 10.34}, {'connected_gene': 'KIAA0895L', 'score': 10.34}, {'connected_gene': 'TMEM208', 'score': 9.9}, {'connected_gene': 'LRRC29', 'score': 9.9}, {'connected_gene': 'PARD6A', 'score': 9.83}, {'connected_gene': 'ACD', 'score': 9.83}, {'connected_gene': 'LRRC36', 'score': 9.65}, {'connected_gene': 'ENSG00000237718', 'score': 9.58}, {'connected_gene': 'CARMIL2', 'score': 9.56}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PLA2G15', 'score': 5.67}, {'connected_gene': 'PRMT7', 'score': 5.42}, {'connected_gene': 'GC16M067470', 'score': 0.34}]
chr16	GH16I067212	67212338	67213774	0.46	[{'connected_gene': 'GC16M067211', 'score': 550.77}, {'connected_gene': 'ELMO3', 'score': 11.57}, {'connected_gene': 'LRRC36', 'score': 4.16}, {'connected_gene': 'LOC105369155', 'score': 0.39}, {'connected_gene': 'LRRC29', 'score': 0.39}]
chr16	GH16I067206	67206132	67208855	0.9	[{'connected_gene': 'ENSG00000280163', 'score': 550.77}, {'connected_gene': 'ELMO3', 'score': 12.27}, {'connected_gene': 'GC16M067211', 'score': 0.77}, {'connected_gene': 'LRRC29', 'score': 0.37}]
chr16	GH16I067520	67520658	67522207	1.46	[{'connected_gene': 'GC16M067517', 'score': 550.77}, {'connected_gene': 'LRRC36', 'score': 10.17}, {'connected_gene': 'LRRC29', 'score': 4.45}, {'connected_gene': 'RIPOR1', 'score': 0.77}, {'connected_gene': 'LOC100505942', 'score': 0.44}]
chr16	GH16I067296	67296055	67296783	0.46	[{'connected_gene': 'PIR58758', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.49}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.35}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16	GH16I067260	67260468	67261233	0.95	[{'connected_gene': 'ENSG00000262691', 'score': 550.77}, {'connected_gene': 'TMEM208', 'score': 11.01}, {'connected_gene': 'LRRC29', 'score': 11.01}, {'connected_gene': 'HSD11B2', 'score': 10.62}, {'connected_gene': 'ZDHHC1', 'score': 10.26}, {'connected_gene': 'FHOD1', 'score': 0.39}, {'connected_gene': 'SLC9A5', 'score': 0.34}]
chr16	GH16I067214	67214318	67214414	0.31	[{'connected_gene': 'GC16M067211', 'score': 0.77}, {'connected_gene': 'LOC105369155', 'score': 0.39}, {'connected_gene': 'LRRC29', 'score': 0.39}]