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
ENST00000332499	[[43224683, 43229468]]	[[43226557, 43227637]]
NM_006460	[[43224683, 43229468]]	[[43226557, 43227637]]

Promoter

Chrom	Start	End	Description
chr17	43224414	43224420	CAGE_peak_19_at_HEXIM1_5end
chr17	43225839	43225845	CAGE_peak_1_at_HEXIM1_5end
chr17	43225944	43225977	CAGE_peak_2_at_HEXIM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I044898	44898200	44902346	2.12	[{'connected_gene': 'EFTUD2', 'score': 599.63}, {'connected_gene': 'FAM187A', 'score': 567.0}, {'connected_gene': 'CCDC103', 'score': 550.77}, {'connected_gene': 'GJC1', 'score': 35.31}, {'connected_gene': 'TMUB2', 'score': 12.76}, {'connected_gene': 'HEXIM1', 'score': 12.44}, {'connected_gene': 'ASB16-AS1', 'score': 11.41}, {'connected_gene': 'ENSG00000267344', 'score': 10.94}, {'connected_gene': 'PIR50226', 'score': 0.77}]
chr17	GH17I045305	45305155	45322307	2.8	[{'connected_gene': 'MAP3K14', 'score': 562.38}, {'connected_gene': 'FMNL1', 'score': 23.21}, {'connected_gene': 'SPATA32', 'score': 17.27}, {'connected_gene': 'PLEKHM1', 'score': 16.57}, {'connected_gene': 'ENSG00000262372', 'score': 14.94}, {'connected_gene': 'KANSL1', 'score': 14.74}, {'connected_gene': 'LINC02210', 'score': 12.98}, {'connected_gene': 'ARHGAP27', 'score': 12.07}, {'connected_gene': 'EFTUD2', 'score': 11.21}, {'connected_gene': 'ENSG00000224505', 'score': 10.8}, {'connected_gene': 'GPATCH8', 'score': 10.72}, {'connected_gene': 'LRRC37A4P', 'score': 9.76}, {'connected_gene': 'DND1P1', 'score': 8.3}, {'connected_gene': 'MAPK8IP1P1', 'score': 8.19}, {'connected_gene': 'KANSL1-AS1', 'score': 7.47}, {'connected_gene': 'ENSG00000233483', 'score': 5.58}, {'connected_gene': 'ENSG00000262539', 'score': 4.76}, {'connected_gene': 'ENSG00000233175', 'score': 4.49}, {'connected_gene': 'HEXIM1', 'score': 1.4}, {'connected_gene': 'PIR52003', 'score': 0.77}, {'connected_gene': 'GC17P045292', 'score': 0.34}]
chr17	GH17I044707	44707521	44709813	2.1	[{'connected_gene': 'DBF4B', 'score': 598.99}, {'connected_gene': 'TMUB2', 'score': 56.63}, {'connected_gene': 'ASB16-AS1', 'score': 55.7}, {'connected_gene': 'ENSG00000224505', 'score': 33.35}, {'connected_gene': 'EFTUD2', 'score': 32.28}, {'connected_gene': 'UBTF', 'score': 28.47}, {'connected_gene': 'C17orf53', 'score': 22.53}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.33}, {'connected_gene': 'HEXIM1', 'score': 11.45}, {'connected_gene': 'MAP3K14', 'score': 11.42}, {'connected_gene': 'ENSG00000260793', 'score': 10.93}, {'connected_gene': 'GJC1', 'score': 10.41}, {'connected_gene': 'PLEKHM1', 'score': 9.86}, {'connected_gene': 'LRRC37A4P', 'score': 9.73}, {'connected_gene': 'FAM187A', 'score': 6.45}, {'connected_gene': 'GC17M044689', 'score': 0.77}]
chr17	GH17I045089	45089928	45094483	1.54	[{'connected_gene': 'DCAKD', 'score': 34.93}, {'connected_gene': 'PLCD3', 'score': 23.25}, {'connected_gene': 'GFAP', 'score': 16.99}, {'connected_gene': 'NMT1', 'score': 16.62}, {'connected_gene': 'ACBD4', 'score': 13.52}, {'connected_gene': 'HEXIM1', 'score': 13.48}, {'connected_gene': 'HIGD1B', 'score': 2.63}, {'connected_gene': 'ADAM11', 'score': 1.31}, {'connected_gene': 'MIR6784', 'score': 0.34}, {'connected_gene': 'ENSG00000200888', 'score': 0.34}]
chr17	GH17I045177	45177361	45178505	0.38	[{'connected_gene': 'DCAKD', 'score': 8.9}, {'connected_gene': 'HEXIM1', 'score': 5.18}, {'connected_gene': 'LOC105371795', 'score': 0.44}, {'connected_gene': 'GC17P045190', 'score': 0.39}]
chr17	GH17I045134	45134934	45136828	2.09	[{'connected_gene': 'ACBD4', 'score': 571.58}, {'connected_gene': 'ASB16-AS1', 'score': 24.33}, {'connected_gene': 'ENSG00000262372', 'score': 17.51}, {'connected_gene': 'UBTF', 'score': 14.83}, {'connected_gene': 'TMUB2', 'score': 12.19}, {'connected_gene': 'GPATCH8', 'score': 10.04}, {'connected_gene': 'PLCD3', 'score': 0.77}, {'connected_gene': 'HEXIM1', 'score': 0.39}]
chr17	GH17I044245	44245673	44248143	1.18	[{'connected_gene': 'TMUB2', 'score': 24.84}, {'connected_gene': 'ASB16-AS1', 'score': 20.92}, {'connected_gene': 'DHX8', 'score': 16.46}, {'connected_gene': 'C17orf53', 'score': 12.5}, {'connected_gene': 'ENSG00000260793', 'score': 11.75}, {'connected_gene': 'ENSG00000224505', 'score': 11.74}, {'connected_gene': 'GJC1', 'score': 11.73}, {'connected_gene': 'GPATCH8', 'score': 11.63}, {'connected_gene': 'HEXIM1', 'score': 11.43}, {'connected_gene': 'LINC00910', 'score': 11.33}, {'connected_gene': 'UBTF', 'score': 10.63}, {'connected_gene': 'EFTUD2', 'score': 9.93}, {'connected_gene': 'ASB16', 'score': 6.86}, {'connected_gene': 'LINC00854', 'score': 4.37}, {'connected_gene': 'GC17M044250', 'score': 0.77}, {'connected_gene': 'SHC1P2', 'score': 0.37}]
chr17	GH17I044288	44288371	44288811	1.27	[{'connected_gene': 'SLC4A1', 'score': 35.42}, {'connected_gene': 'DHX8', 'score': 16.46}, {'connected_gene': 'TMUB2', 'score': 16.27}, {'connected_gene': 'ASB16-AS1', 'score': 13.15}, {'connected_gene': 'C17orf53', 'score': 12.47}, {'connected_gene': 'ENSG00000224505', 'score': 11.74}, {'connected_gene': 'UBTF', 'score': 11.69}, {'connected_gene': 'HEXIM1', 'score': 11.43}, {'connected_gene': 'LINC00910', 'score': 11.33}, {'connected_gene': 'MAP3K14-AS1', 'score': 11.01}, {'connected_gene': 'EFTUD2', 'score': 9.93}, {'connected_gene': 'SLC25A39', 'score': 1.64}, {'connected_gene': 'RN7SL507P', 'score': 0.77}, {'connected_gene': 'GC17M044291', 'score': 0.77}, {'connected_gene': 'LOC105371790', 'score': 0.39}]
chr17	GH17I046100	46100120	46102799	1.47	[{'connected_gene': 'LINC02210', 'score': 94.16}, {'connected_gene': 'KANSL1', 'score': 57.74}, {'connected_gene': 'ARL17A', 'score': 49.95}, {'connected_gene': 'ARL17B', 'score': 48.77}, {'connected_gene': 'ENSG00000262372', 'score': 48.74}, {'connected_gene': 'RPS7P11', 'score': 37.07}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.33}, {'connected_gene': 'ENSG00000224505', 'score': 11.74}, {'connected_gene': 'HEXIM1', 'score': 11.43}, {'connected_gene': 'LRRC37A17P', 'score': 9.93}, {'connected_gene': 'LRRC37A4P', 'score': 9.73}, {'connected_gene': 'PIR51062', 'score': 0.21}, {'connected_gene': 'KANSL1-AS1', 'score': 0.16}, {'connected_gene': 'PIRC95', 'score': 0.03}]
chr17	GH17I045989	45989741	45991943	0.43	[{'connected_gene': 'LINC02210', 'score': 93.97}, {'connected_gene': 'ARL17A', 'score': 25.68}, {'connected_gene': 'LRRC37A2', 'score': 18.57}, {'connected_gene': 'NSFP1', 'score': 13.92}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.03}, {'connected_gene': 'LRRC37A', 'score': 11.55}, {'connected_gene': 'ENSG00000224505', 'score': 10.65}, {'connected_gene': 'LRRC37A4P', 'score': 10.14}, {'connected_gene': 'HEXIM1', 'score': 10.04}, {'connected_gene': 'KANSL1', 'score': 9.96}, {'connected_gene': 'ENSG00000262539', 'score': 9.83}, {'connected_gene': 'STH', 'score': 0.44}, {'connected_gene': 'GC17P045976', 'score': 0.37}, {'connected_gene': 'MAPT', 'score': 0.15}, {'connected_gene': 'PIRC95', 'score': 0.04}]
chr17	GH17I044307	44307404	44309450	1.95	[{'connected_gene': 'RUNDC3A', 'score': 550.77}, {'connected_gene': 'RNU6-453P', 'score': 550.77}, {'connected_gene': 'TMUB2', 'score': 13.96}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.03}, {'connected_gene': 'LINC00910', 'score': 11.79}, {'connected_gene': 'ENSG00000224505', 'score': 10.65}, {'connected_gene': 'HEXIM1', 'score': 10.04}, {'connected_gene': 'DHX8', 'score': 10.03}, {'connected_gene': 'C17orf53', 'score': 9.88}, {'connected_gene': 'GRN', 'score': 7.97}, {'connected_gene': 'SLC25A39', 'score': 4.46}, {'connected_gene': 'GC17P044298', 'score': 0.44}, {'connected_gene': 'RUNDC3A-AS1', 'score': 0.44}, {'connected_gene': 'GC17P044299', 'score': 0.44}]
chr17	GH17I045200	45200536	45202652	1.12	[{'connected_gene': 'HEXIM1', 'score': 12.74}, {'connected_gene': 'ACBD4', 'score': 12.71}, {'connected_gene': 'PLCD3', 'score': 12.71}, {'connected_gene': 'DCAKD', 'score': 7.67}, {'connected_gene': 'LRRC37A4P', 'score': 6.59}, {'connected_gene': 'ENSG00000233483', 'score': 5.35}, {'connected_gene': 'DND1P1', 'score': 4.83}, {'connected_gene': 'ENSG00000233175', 'score': 4.78}, {'connected_gene': 'LINC02210', 'score': 4.73}, {'connected_gene': 'ENSG00000267405', 'score': 4.5}, {'connected_gene': 'SLC25A39', 'score': 4.07}, {'connected_gene': 'GC17P045196', 'score': 0.44}, {'connected_gene': 'FMNL1', 'score': 0.37}, {'connected_gene': 'LOC339192', 'score': 0.34}]
chr17	GH17I045143	45143150	45152743	2.65	[{'connected_gene': 'HEXIM1', 'score': 581.29}, {'connected_gene': 'GC17M045149', 'score': 550.77}, {'connected_gene': 'ENSG00000276728', 'score': 550.77}, {'connected_gene': 'ENSG00000262372', 'score': 138.63}, {'connected_gene': 'ASB16-AS1', 'score': 125.41}, {'connected_gene': 'UBTF', 'score': 110.84}, {'connected_gene': 'TMUB2', 'score': 94.15}, {'connected_gene': 'ENSG00000224505', 'score': 44.16}, {'connected_gene': 'LINC02210', 'score': 40.81}, {'connected_gene': 'MAP3K14-AS1', 'score': 29.68}, {'connected_gene': 'EFTUD2', 'score': 27.46}, {'connected_gene': 'ENSG00000260793', 'score': 24.07}, {'connected_gene': 'DCAKD', 'score': 21.93}, {'connected_gene': 'LRRC37A4P', 'score': 18.18}, {'connected_gene': 'ENSG00000266918', 'score': 16.98}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.43}, {'connected_gene': 'ENSG00000233175', 'score': 11.36}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'DBF4B', 'score': 11.02}, {'connected_gene': 'ENSG00000267344', 'score': 10.96}, {'connected_gene': 'NMT1', 'score': 10.59}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'PLCD3', 'score': 5.62}, {'connected_gene': 'SLC25A39', 'score': 5.42}, {'connected_gene': 'MAPK8IP1P2', 'score': 4.59}, {'connected_gene': 'ENSG00000267505', 'score': 4.54}, {'connected_gene': 'ACBD4', 'score': 1.95}]
chr17	GH17I045168	45168842	45174627	1.64	[{'connected_gene': 'LOC105371795', 'score': 557.31}, {'connected_gene': 'LINC02210', 'score': 18.24}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'UBTF', 'score': 9.85}, {'connected_gene': 'GPATCH8', 'score': 9.65}, {'connected_gene': 'HEXIM1', 'score': 8.84}, {'connected_gene': 'SLC25A39', 'score': 6.45}, {'connected_gene': 'PLCD3', 'score': 6.1}, {'connected_gene': 'DBF4B', 'score': 5.45}, {'connected_gene': 'ADAM11', 'score': 2.55}, {'connected_gene': 'HIGD1B', 'score': 1.48}, {'connected_gene': 'GFAP', 'score': 1.32}, {'connected_gene': 'HEXIM2', 'score': 0.39}, {'connected_gene': 'ENSG00000224505', 'score': 0.39}]
chr17	GH17I045196	45196785	45198703	1.25	[{'connected_gene': 'ENSG00000262372', 'score': 22.28}, {'connected_gene': 'UBTF', 'score': 14.35}, {'connected_gene': 'HEXIM1', 'score': 12.74}, {'connected_gene': 'PLCD3', 'score': 12.72}, {'connected_gene': 'ACBD4', 'score': 12.71}, {'connected_gene': 'ENSG00000224505', 'score': 12.65}, {'connected_gene': 'DCAKD', 'score': 7.37}, {'connected_gene': 'ENSG00000233483', 'score': 4.86}, {'connected_gene': 'ENSG00000267405', 'score': 4.77}, {'connected_gene': 'GC17P045196', 'score': 0.77}, {'connected_gene': 'FMNL1', 'score': 0.34}, {'connected_gene': 'LOC339192', 'score': 0.34}]
chr17	GH17I045157	45157765	45163130	2.34	[{'connected_gene': 'ENSG00000224505', 'score': 572.0}, {'connected_gene': 'HEXIM2', 'score': 560.42}, {'connected_gene': 'ENSG00000262372', 'score': 38.9}, {'connected_gene': 'UBTF', 'score': 30.26}, {'connected_gene': 'TMUB2', 'score': 24.48}, {'connected_gene': 'ASB16-AS1', 'score': 23.08}, {'connected_gene': 'MAP3K14-AS1', 'score': 21.41}, {'connected_gene': 'EFTUD2', 'score': 18.7}, {'connected_gene': 'PLCD3', 'score': 12.35}, {'connected_gene': 'ACBD4', 'score': 12.35}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'HEXIM1', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.5}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'NMT1', 'score': 10.58}, {'connected_gene': 'LINC02210', 'score': 10.24}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'DCAKD', 'score': 9.82}, {'connected_gene': 'ENSG00000266918', 'score': 5.91}, {'connected_gene': 'ENSG00000267505', 'score': 4.44}]