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
ENST00000401061	[[45965724, 45966085], [45973027, 45973222], [45973883, 45974036], [45974467, 45976739]]	[[45966004, 45966085], [45973027, 45973222], [45973883, 45974036], [45974467, 45974887]]
ENST00000477188	[[45975104, 45975180], [45975646, 45976177]]	None
NM_015506	[[45965855, 45966085], [45973027, 45973222], [45973883, 45974036], [45974467, 45976739]]	[[45966004, 45966085], [45973027, 45973222], [45973883, 45974036], [45974467, 45974887]]
NM_001330540	[[45965855, 45966085], [45972976, 45973222], [45973883, 45974036], [45974467, 45976739]]	[[45973117, 45973222], [45973883, 45974036], [45974467, 45974887]]

Promoter

Chrom	Start	End	Description
chr1	45965857	45965880	CAGE_peak_2_at_MMACHC_5end
chr1	45965959	45966027	CAGE_peak_1_at_MMACHC_5end
chr1	45966050	45966062	CAGE_peak_3_at_MMACHC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I045325	45325993	45330647	2.1	[{'connected_gene': 'HPDL', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 24.87}, {'connected_gene': 'LRRC41', 'score': 22.29}, {'connected_gene': 'GPBP1L1', 'score': 16.77}, {'connected_gene': 'CCDC163', 'score': 13.12}, {'connected_gene': 'RPL7AP16', 'score': 12.99}, {'connected_gene': 'NASP', 'score': 12.71}, {'connected_gene': 'MUTYH', 'score': 11.42}, {'connected_gene': 'HECTD3', 'score': 10.35}, {'connected_gene': 'MMACHC', 'score': 5.68}]
chr1	GH01I044774	44774349	44778087	2.34	[{'connected_gene': 'RPS8', 'score': 609.02}, {'connected_gene': 'GC01P044833', 'score': 550.77}, {'connected_gene': 'GC01P044811', 'score': 550.77}, {'connected_gene': 'SNORD46', 'score': 550.77}, {'connected_gene': 'GC01P044830', 'score': 550.77}, {'connected_gene': 'GC01P044822', 'score': 550.77}, {'connected_gene': 'ENSG00000225721', 'score': 550.77}, {'connected_gene': 'SNORD38A', 'score': 550.77}, {'connected_gene': 'GC01P044831', 'score': 550.77}, {'connected_gene': 'GC01P044828', 'score': 550.77}, {'connected_gene': 'SNORD55', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 99.57}, {'connected_gene': 'GPBP1L1', 'score': 96.81}, {'connected_gene': 'RPL7AP16', 'score': 55.74}, {'connected_gene': 'MUTYH', 'score': 54.72}, {'connected_gene': 'DMAP1', 'score': 45.54}, {'connected_gene': 'NASP', 'score': 30.2}, {'connected_gene': 'HECTD3', 'score': 28.68}, {'connected_gene': 'KIF2C', 'score': 21.7}, {'connected_gene': 'RPS15AP10', 'score': 21.02}, {'connected_gene': 'ZSWIM5', 'score': 20.11}, {'connected_gene': 'TMEM69', 'score': 18.48}, {'connected_gene': 'ARTN', 'score': 12.86}, {'connected_gene': 'LOC101929609', 'score': 10.87}, {'connected_gene': 'TESK2', 'score': 10.76}, {'connected_gene': 'PTCH2', 'score': 10.37}, {'connected_gene': 'UROD', 'score': 7.06}, {'connected_gene': 'BEST4', 'score': 6.59}, {'connected_gene': 'MMACHC', 'score': 3.87}]
chr1	GH01I045392	45392718	45395280	1.16	[{'connected_gene': 'PRDX1', 'score': 15.69}, {'connected_gene': 'MMACHC', 'score': 4.7}, {'connected_gene': 'TOE1', 'score': 2.76}, {'connected_gene': 'IPP', 'score': 2.7}, {'connected_gene': 'TESK2', 'score': 1.8}, {'connected_gene': 'PPIAP36', 'score': 0.34}, {'connected_gene': 'PIR46302', 'score': 0.23}]
chr1	GH01I045348	45348134	45350026	0.76	[{'connected_gene': 'PRDX1', 'score': 15.86}, {'connected_gene': 'MMACHC', 'score': 15.25}, {'connected_gene': 'TESK2', 'score': 11.27}, {'connected_gene': 'PIR46302', 'score': 0.44}, {'connected_gene': 'PPIAP36', 'score': 0.2}]
chr1	GH01I045520	45520000	45523699	2.15	[{'connected_gene': 'PRDX1', 'score': 576.06}, {'connected_gene': 'CCDC163', 'score': 98.48}, {'connected_gene': 'TOE1', 'score': 76.85}, {'connected_gene': 'LRRC41', 'score': 65.93}, {'connected_gene': 'MUTYH', 'score': 54.01}, {'connected_gene': 'GPBP1L1', 'score': 49.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'RPL7AP16', 'score': 26.87}, {'connected_gene': 'NASP', 'score': 21.87}, {'connected_gene': 'ZSWIM5', 'score': 20.79}, {'connected_gene': 'HECTD3', 'score': 19.99}, {'connected_gene': 'PTCH2', 'score': 14.15}, {'connected_gene': 'AKR1A1', 'score': 13.34}, {'connected_gene': 'RPS15AP10', 'score': 12.09}, {'connected_gene': 'NSUN4', 'score': 10.24}, {'connected_gene': 'CCDC17', 'score': 10.19}, {'connected_gene': 'MMACHC', 'score': 4.66}, {'connected_gene': 'PIR60929', 'score': 0.44}]
chr1	GH01I045409	45409370	45413212	1.27	[{'connected_gene': 'PRDX1', 'score': 25.81}, {'connected_gene': 'TESK2', 'score': 13.05}, {'connected_gene': 'HMGB1P48', 'score': 9.24}, {'connected_gene': 'MMACHC', 'score': 5.61}, {'connected_gene': 'CCDC163', 'score': 5.41}, {'connected_gene': 'IPP', 'score': 4.43}, {'connected_gene': 'PPIAP36', 'score': 0.77}, {'connected_gene': 'PIR46302', 'score': 0.2}]
chr1	GH01I045319	45319465	45322923	0.82	[{'connected_gene': 'PRDX1', 'score': 10.12}, {'connected_gene': 'HMGB1P48', 'score': 10.12}, {'connected_gene': 'CCDC163', 'score': 8.58}, {'connected_gene': 'C1orf228', 'score': 7.54}, {'connected_gene': 'MMACHC', 'score': 4.35}, {'connected_gene': 'HPDL', 'score': 0.44}, {'connected_gene': 'ZSWIM5', 'score': 0.39}]
chr1	GH01I044805	44805080	44815821	2.32	[{'connected_gene': 'BTBD19', 'score': 559.74}, {'connected_gene': 'TOE1', 'score': 47.18}, {'connected_gene': 'GPBP1L1', 'score': 40.2}, {'connected_gene': 'RPS8', 'score': 35.1}, {'connected_gene': 'HECTD3', 'score': 28.96}, {'connected_gene': 'MUTYH', 'score': 24.73}, {'connected_gene': 'RPL7AP16', 'score': 23.95}, {'connected_gene': 'RPS15AP10', 'score': 21.41}, {'connected_gene': 'ENSG00000225721', 'score': 15.78}, {'connected_gene': 'UROD', 'score': 12.58}, {'connected_gene': 'BEST4', 'score': 11.84}, {'connected_gene': 'SNORD46', 'score': 11.26}, {'connected_gene': 'SNORD38A', 'score': 11.26}, {'connected_gene': 'ARTN', 'score': 10.78}, {'connected_gene': 'NASP', 'score': 9.96}, {'connected_gene': 'DPH2', 'score': 6.25}, {'connected_gene': 'CCDC163', 'score': 4.95}, {'connected_gene': 'MMACHC', 'score': 3.87}, {'connected_gene': 'TCTEX1D4', 'score': 0.77}, {'connected_gene': 'RNU5E-6P', 'score': 0.44}, {'connected_gene': 'PLK3', 'score': 0.39}]
chr1	GH01I045541	45541401	45546300	1.49	[{'connected_gene': 'CCDC163', 'score': 24.28}, {'connected_gene': 'PRDX1', 'score': 22.94}, {'connected_gene': 'IPP', 'score': 8.38}, {'connected_gene': 'AKR1A1', 'score': 7.42}, {'connected_gene': 'MMACHC', 'score': 4.69}, {'connected_gene': 'TESK2', 'score': 4.0}, {'connected_gene': 'GPBP1L1', 'score': 2.06}, {'connected_gene': 'TOE1', 'score': 1.52}, {'connected_gene': 'GC01P045551', 'score': 0.44}, {'connected_gene': 'HMGB1P48', 'score': 0.39}]
chr1	GH01I045498	45498336	45501625	1.59	[{'connected_gene': 'CCDC163', 'score': 648.91}, {'connected_gene': 'MMACHC', 'score': 555.75}, {'connected_gene': 'PIR33787', 'score': 550.77}, {'connected_gene': 'PRDX1', 'score': 36.85}, {'connected_gene': 'MUTYH', 'score': 33.34}, {'connected_gene': 'LRRC41', 'score': 28.18}, {'connected_gene': 'TOE1', 'score': 20.93}, {'connected_gene': 'NASP', 'score': 13.04}, {'connected_gene': 'GPBP1L1', 'score': 12.03}, {'connected_gene': 'AKR1A1', 'score': 11.88}, {'connected_gene': 'HMGB1P48', 'score': 11.4}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'HECTD3', 'score': 9.68}]
chr1	GH01I045477	45477782	45478807	0.54	[{'connected_gene': 'CCDC163', 'score': 12.94}, {'connected_gene': 'MMACHC', 'score': 4.68}, {'connected_gene': 'TESK2', 'score': 0.39}, {'connected_gene': 'PPIAP36', 'score': 0.21}]
chr1	GH01I044798	44798676	44804932	2.32	[{'connected_gene': 'PLK3', 'score': 550.77}, {'connected_gene': 'RPS8', 'score': 21.65}, {'connected_gene': 'TOE1', 'score': 12.51}, {'connected_gene': 'GPBP1L1', 'score': 11.96}, {'connected_gene': 'BEST4', 'score': 11.25}, {'connected_gene': 'ZSWIM5', 'score': 10.86}, {'connected_gene': 'HECTD3', 'score': 9.72}, {'connected_gene': 'ARTN', 'score': 9.71}, {'connected_gene': 'BTBD19', 'score': 9.21}, {'connected_gene': 'UROD', 'score': 8.61}, {'connected_gene': 'MMACHC', 'score': 3.85}, {'connected_gene': 'TCTEX1D4', 'score': 0.44}]
chr1	GH01I045334	45334309	45342237	2.3	[{'connected_gene': 'TOE1', 'score': 585.62}, {'connected_gene': 'MUTYH', 'score': 560.72}, {'connected_gene': 'GPBP1L1', 'score': 34.03}, {'connected_gene': 'LRRC41', 'score': 26.44}, {'connected_gene': 'RPL7AP16', 'score': 22.34}, {'connected_gene': 'HECTD3', 'score': 19.06}, {'connected_gene': 'PRDX1', 'score': 16.66}, {'connected_gene': 'MMACHC', 'score': 15.57}, {'connected_gene': 'CCDC163', 'score': 13.19}, {'connected_gene': 'TESK2', 'score': 11.26}, {'connected_gene': 'UROD', 'score': 4.71}, {'connected_gene': 'HPDL', 'score': 0.39}]
chr1	GH01I045489	45489789	45492029	2.06	[{'connected_gene': 'TESK2', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.58}, {'connected_gene': 'NSUN4', 'score': 28.55}, {'connected_gene': 'PRDX1', 'score': 25.58}, {'connected_gene': 'LRRC41', 'score': 22.72}, {'connected_gene': 'TOE1', 'score': 14.16}, {'connected_gene': 'IPP', 'score': 12.89}, {'connected_gene': 'GPBP1L1', 'score': 11.61}, {'connected_gene': 'KIF2C', 'score': 10.27}, {'connected_gene': 'ZSWIM5', 'score': 6.46}, {'connected_gene': 'MMACHC', 'score': 4.86}, {'connected_gene': 'PPIAP36', 'score': 0.18}]
chr1	GH01I045512	45512669	45512878	0.87	[{'connected_gene': 'AKR1A1', 'score': 12.53}, {'connected_gene': 'PIR60929', 'score': 0.77}, {'connected_gene': 'MMACHC', 'score': 0.39}, {'connected_gene': 'PRDX1', 'score': 0.39}, {'connected_gene': 'CCDC163', 'score': 0.39}]
chr1	GH01I045513	45513169	45514253	0.54	[{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 65.7}, {'connected_gene': 'AKR1A1', 'score': 12.53}, {'connected_gene': 'MMACHC', 'score': 4.82}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1	GH01I045514	45514589	45516738	0.56	[{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.76}, {'connected_gene': 'GPBP1L1', 'score': 10.71}, {'connected_gene': 'MMACHC', 'score': 4.79}, {'connected_gene': 'PRDX1', 'score': 0.44}]