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
ENST00000595775	[[42817476, 42817648], [42818423, 42818498], [42818602, 42818680], [42818764, 42818851], [42818943, 42819089]]	None
ENST00000301204	[[42817487, 42817648], [42818423, 42818498], [42818602, 42818680], [42818764, 42818851], [42818943, 42819003], [42819144, 42819229], [42819339, 42819411], [42819523, 42819592], [42820632, 42820713], [42820813, 42820892], [42821021, 42821115], [42821860, 42822033], [42824468, 42824589], [42827734, 42827941], [42828888, 42829214]]	[[42817528, 42817648], [42818423, 42818498], [42818602, 42818680], [42818764, 42818851], [42818943, 42819003], [42819144, 42819229], [42819339, 42819411], [42819523, 42819592], [42820632, 42820713], [42820813, 42820892], [42821021, 42821115], [42821860, 42822033], [42824468, 42824589], [42827734, 42827941], [42828888, 42828969]]
ENST00000598766	[[42817528, 42817648], [42818423, 42818498], [42818572, 42818680], [42818764, 42818851], [42818943, 42819045], [42819144, 42819229], [42819339, 42819411], [42819523, 42819592], [42820632, 42820713], [42820813, 42820892], [42821021, 42821115], [42821860, 42822033], [42824468, 42824589], [42825196, 42825941]]	[[42817528, 42817648], [42818423, 42818498], [42818572, 42818680], [42818764, 42818851], [42818943, 42819045], [42819144, 42819229], [42819339, 42819411], [42819523, 42819592], [42820632, 42820713], [42820813, 42820892], [42821021, 42821115], [42821860, 42822033], [42824468, 42824589], [42825196, 42825397]]
ENST00000601020	[[42818423, 42818498], [42818602, 42818680], [42818764, 42818851], [42818943, 42819045], [42819144, 42819154]]	None
ENST00000601644	[[42824510, 42824589], [42825471, 42825529], [42825726, 42825927]]	[[42824510, 42824589], [42825471, 42825529], [42825726, 42825826]]
NM_173633	[[42817476, 42817648], [42818423, 42818498], [42818602, 42818680], [42818764, 42818851], [42818943, 42819003], [42819144, 42819229], [42819339, 42819411], [42819523, 42819592], [42820632, 42820713], [42820813, 42820892], [42821021, 42821115], [42821860, 42822033], [42824468, 42824589], [42827734, 42827941], [42828888, 42829214]]	[[42817528, 42817648], [42818423, 42818498], [42818602, 42818680], [42818764, 42818851], [42818943, 42819003], [42819144, 42819229], [42819339, 42819411], [42819523, 42819592], [42820632, 42820713], [42820813, 42820892], [42821021, 42821115], [42821860, 42822033], [42824468, 42824589], [42827734, 42827941], [42828888, 42828969]]

Promoter

Chrom	Start	End	Description
chr19	42817450	42817493	CAGE_peak_1_at_TMEM145_5end
chr19	42817494	42817510	CAGE_peak_5_at_TMEM145_5end
chr19	42817511	42817522	CAGE_peak_6_at_TMEM145_5end
chr19	42817527	42817546	CAGE_peak_2_at_TMEM145_5end
chr19	42817550	42817569	CAGE_peak_3_at_TMEM145_5end
chr19	42817585	42817599	CAGE_peak_4_at_TMEM145_5end
chr19	42817614	42817625	CAGE_peak_7_at_TMEM145_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I041882	41882073	41891244	2.34	[{'connected_gene': 'ARHGEF1', 'score': 555.26}, {'connected_gene': 'ZNF526', 'score': 93.74}, {'connected_gene': 'HNRNPUL1', 'score': 84.25}, {'connected_gene': 'CCDC97', 'score': 78.97}, {'connected_gene': 'ZNF574', 'score': 59.53}, {'connected_gene': 'RPS19', 'score': 23.3}, {'connected_gene': 'RABAC1', 'score': 16.1}, {'connected_gene': 'CYP2G1P', 'score': 15.86}, {'connected_gene': 'MEGF8', 'score': 14.39}, {'connected_gene': 'AXL', 'score': 13.0}, {'connected_gene': 'CIC', 'score': 10.94}, {'connected_gene': 'TMEM145', 'score': 9.9}, {'connected_gene': 'LOC390937', 'score': 6.13}, {'connected_gene': 'PCAT19', 'score': 5.1}, {'connected_gene': 'PLEKHA3P1', 'score': 5.02}]
chr19	GH19I042074	42074609	42078421	2.1	[{'connected_gene': 'ZNF574', 'score': 619.92}, {'connected_gene': 'ZNF526', 'score': 72.58}, {'connected_gene': 'HNRNPUL1', 'score': 67.63}, {'connected_gene': 'CCDC97', 'score': 51.77}, {'connected_gene': 'MEGF8', 'score': 14.41}, {'connected_gene': 'RPS19', 'score': 11.71}, {'connected_gene': 'ARHGEF1', 'score': 11.7}, {'connected_gene': 'TMEM145', 'score': 9.92}, {'connected_gene': 'LOC732229', 'score': 9.69}, {'connected_gene': 'PIR55136', 'score': 0.77}, {'connected_gene': 'GRIK5', 'score': 0.77}]
chr19	GH19I042032	42032029	42033051	0.94	[{'connected_gene': 'ZNF574', 'score': 26.15}, {'connected_gene': 'HNRNPUL1', 'score': 20.61}, {'connected_gene': 'ZNF526', 'score': 17.31}, {'connected_gene': 'MEGF8', 'score': 14.4}, {'connected_gene': 'CCDC97', 'score': 14.27}, {'connected_gene': 'AXL', 'score': 13.0}, {'connected_gene': 'GRIK5', 'score': 12.39}, {'connected_gene': 'ATP1A3', 'score': 11.82}, {'connected_gene': 'CIC', 'score': 10.96}, {'connected_gene': 'POU2F2', 'score': 10.36}, {'connected_gene': 'TMEM145', 'score': 9.92}, {'connected_gene': 'GC19P042029', 'score': 0.77}, {'connected_gene': 'GC19P042025', 'score': 0.44}, {'connected_gene': 'PIR58577', 'score': 0.29}, {'connected_gene': 'GC19M042066', 'score': 0.29}]
chr19	GH19I041348	41348150	41355076	2.29	[{'connected_gene': 'TMEM91', 'score': 563.64}, {'connected_gene': 'TGFB1', 'score': 550.77}, {'connected_gene': 'ENSG00000255730', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 87.33}, {'connected_gene': 'SNRPA', 'score': 83.79}, {'connected_gene': 'ZNF574', 'score': 77.05}, {'connected_gene': 'HNRNPUL1', 'score': 71.85}, {'connected_gene': 'ENSG00000269843', 'score': 60.59}, {'connected_gene': 'CCDC97', 'score': 51.54}, {'connected_gene': 'COQ8B', 'score': 39.68}, {'connected_gene': 'CYP2G1P', 'score': 33.81}, {'connected_gene': 'NUMBL', 'score': 26.5}, {'connected_gene': 'ITPKC', 'score': 19.83}, {'connected_gene': 'MEGF8', 'score': 14.37}, {'connected_gene': 'SERTAD3', 'score': 13.39}, {'connected_gene': 'AXL', 'score': 13.09}, {'connected_gene': 'SPTBN4', 'score': 12.83}, {'connected_gene': 'GRIK5', 'score': 12.2}, {'connected_gene': 'B9D2', 'score': 10.66}, {'connected_gene': 'CIC', 'score': 10.6}, {'connected_gene': 'CYP2T1P', 'score': 10.52}, {'connected_gene': 'RPS19', 'score': 10.48}, {'connected_gene': 'ARHGEF1', 'score': 10.02}, {'connected_gene': 'TMEM145', 'score': 9.88}, {'connected_gene': 'LTBP4', 'score': 9.66}, {'connected_gene': 'EXOSC5', 'score': 7.64}, {'connected_gene': 'CEACAM21', 'score': 5.56}]
chr19	GH19I042306	42306689	42306838	0.38	[{'connected_gene': 'PAFAH1B3', 'score': 0.77}, {'connected_gene': 'PRR19', 'score': 0.77}, {'connected_gene': 'TMEM145', 'score': 0.44}]
chr19	GH19I041996	41996009	41996293	0.83	[{'connected_gene': 'ATP1A3', 'score': 552.08}, {'connected_gene': 'GRIK5', 'score': 18.75}, {'connected_gene': 'DMRTC2', 'score': 4.2}, {'connected_gene': 'LYPD4', 'score': 4.08}, {'connected_gene': 'LIPE', 'score': 3.25}, {'connected_gene': 'TMEM145', 'score': 2.22}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19	GH19I041989	41989762	41990078	0.59	[{'connected_gene': 'ATP1A3', 'score': 12.3}, {'connected_gene': 'TMEM145', 'score': 10.6}, {'connected_gene': 'GRIK5', 'score': 3.08}, {'connected_gene': 'MEGF8', 'score': 1.64}, {'connected_gene': 'RABAC1', 'score': 0.29}]
chr19	GH19I041997	41996749	41997504	1.06	[{'connected_gene': 'ATP1A3', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 14.17}, {'connected_gene': 'HNRNPUL1', 'score': 11.82}, {'connected_gene': 'MEGF8', 'score': 10.32}, {'connected_gene': 'CCDC97', 'score': 10.25}, {'connected_gene': 'TMEM145', 'score': 1.86}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19	GH19I042313	42313068	42313838	1.93	[{'connected_gene': 'TMEM145', 'score': 550.77}, {'connected_gene': 'MEGF8', 'score': 0.39}, {'connected_gene': 'GC19M042311', 'score': 0.37}]
chr19	GH19I042316	42316601	42317200	0.83	[{'connected_gene': 'TMEM145', 'score': 0.77}, {'connected_gene': 'MEGF8', 'score': 0.44}, {'connected_gene': 'GC19M042311', 'score': 0.39}]
chr19	GH19I042276	42276359	42287467	2.66	[{'connected_gene': 'CIC', 'score': 551.48}, {'connected_gene': 'ZNF526', 'score': 80.03}, {'connected_gene': 'ZNF574', 'score': 64.49}, {'connected_gene': 'CCDC97', 'score': 38.66}, {'connected_gene': 'MEGF8', 'score': 24.43}, {'connected_gene': 'GRIK5', 'score': 11.55}, {'connected_gene': 'DEDD2', 'score': 9.34}, {'connected_gene': 'CEACAM8', 'score': 5.59}, {'connected_gene': 'PAFAH1B3', 'score': 5.07}, {'connected_gene': 'TMEM145', 'score': 4.31}, {'connected_gene': 'CEACAM3', 'score': 2.88}, {'connected_gene': 'PRR19', 'score': 2.58}, {'connected_gene': 'GSK3A', 'score': 2.44}, {'connected_gene': 'ARHGEF1', 'score': 1.72}, {'connected_gene': 'ATP1A3', 'score': 1.14}, {'connected_gene': 'PIR39982', 'score': 0.77}, {'connected_gene': 'GC19P042280', 'score': 0.77}, {'connected_gene': 'PIR40414', 'score': 0.77}, {'connected_gene': 'PIR46989', 'score': 0.44}]
chr19	GH19I042267	42267435	42274340	2.68	[{'connected_gene': 'CIC', 'score': 553.37}, {'connected_gene': 'PIR59110', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 79.36}, {'connected_gene': 'ZNF574', 'score': 64.73}, {'connected_gene': 'CCDC97', 'score': 44.16}, {'connected_gene': 'DEDD2', 'score': 19.36}, {'connected_gene': 'MEGF8', 'score': 18.02}, {'connected_gene': 'CEACAM3', 'score': 15.92}, {'connected_gene': 'PRR19', 'score': 13.07}, {'connected_gene': 'PAFAH1B3', 'score': 13.07}, {'connected_gene': 'GSK3A', 'score': 12.84}, {'connected_gene': 'TMEM145', 'score': 10.12}, {'connected_gene': 'DMRTC2', 'score': 9.9}, {'connected_gene': 'LOC732229', 'score': 9.72}, {'connected_gene': 'LYPD4', 'score': 8.77}, {'connected_gene': 'LIPE', 'score': 6.93}, {'connected_gene': 'ARHGEF1', 'score': 5.82}, {'connected_gene': 'CEACAM8', 'score': 3.92}, {'connected_gene': 'ERF', 'score': 3.75}, {'connected_gene': 'POU2F2', 'score': 1.91}]
chr19	GH19I042323	42323589	42323738	0.54	[{'connected_gene': 'MEGF8', 'score': 550.77}, {'connected_gene': 'GC19M042311', 'score': 0.44}, {'connected_gene': 'TMEM145', 'score': 0.39}]
chr19	GH19I042324	42324849	42326801	2.03	[{'connected_gene': 'MEGF8', 'score': 569.02}, {'connected_gene': 'ZNF526', 'score': 19.35}, {'connected_gene': 'ZNF574', 'score': 19.05}, {'connected_gene': 'TMEM145', 'score': 10.25}, {'connected_gene': 'GC19M042311', 'score': 0.44}]
chr19	GH19I041957	41957194	41960075	2.27	[{'connected_gene': 'RABAC1', 'score': 581.59}, {'connected_gene': 'ZNF526', 'score': 76.06}, {'connected_gene': 'HNRNPUL1', 'score': 54.68}, {'connected_gene': 'CCDC97', 'score': 35.89}, {'connected_gene': 'ZNF574', 'score': 32.05}, {'connected_gene': 'RPS19', 'score': 21.65}, {'connected_gene': 'MEGF8', 'score': 14.39}, {'connected_gene': 'CD79A', 'score': 12.22}, {'connected_gene': 'ATP1A3', 'score': 11.29}, {'connected_gene': 'ERF', 'score': 10.34}, {'connected_gene': 'TMEM145', 'score': 9.91}, {'connected_gene': 'LOC100505585', 'score': 0.31}]
chr19	GH19I042398	42398767	42399061	0.26	[{'connected_gene': 'LOC101930071', 'score': 550.77}, {'connected_gene': 'LIPE-AS1', 'score': 550.77}, {'connected_gene': 'TMEM145', 'score': 1.62}, {'connected_gene': 'ENSG00000268605', 'score': 0.31}]
chr19	GH19I041499	41499602	41502125	1.2	[{'connected_gene': 'PCAT19', 'score': 574.43}, {'connected_gene': 'CYP2G1P', 'score': 50.23}, {'connected_gene': 'NUMBL', 'score': 46.7}, {'connected_gene': 'SNRPA', 'score': 27.78}, {'connected_gene': 'HNRNPUL1', 'score': 27.21}, {'connected_gene': 'ZNF526', 'score': 24.3}, {'connected_gene': 'CCDC97', 'score': 23.1}, {'connected_gene': 'MEGF8', 'score': 22.87}, {'connected_gene': 'ENSG00000269843', 'score': 21.4}, {'connected_gene': 'ZNF574', 'score': 21.07}, {'connected_gene': 'COQ8B', 'score': 17.93}, {'connected_gene': 'CIC', 'score': 10.6}, {'connected_gene': 'ERF', 'score': 10.31}, {'connected_gene': 'TMEM145', 'score': 9.88}, {'connected_gene': 'ITPKC', 'score': 9.88}, {'connected_gene': 'RPS19', 'score': 9.73}, {'connected_gene': 'LINC01480', 'score': 7.84}, {'connected_gene': 'TPM3P5', 'score': 0.44}]
chr19	GH19I042150	42150505	42150772	0.54	[{'connected_gene': 'ENSG00000259436', 'score': 550.77}, {'connected_gene': 'POU2F2', 'score': 12.14}, {'connected_gene': 'GRIK5', 'score': 12.1}, {'connected_gene': 'ZNF526', 'score': 11.1}, {'connected_gene': 'DEDD2', 'score': 11.1}, {'connected_gene': 'ATP1A3', 'score': 10.35}, {'connected_gene': 'MEGF8', 'score': 10.16}, {'connected_gene': 'TMEM145', 'score': 1.74}, {'connected_gene': 'MIR4323', 'score': 0.37}]
chr19	GH19I042249	42249333	42257232	2.5	[{'connected_gene': 'ENSG00000268643', 'score': 550.77}, {'connected_gene': 'ERF', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 13.05}, {'connected_gene': 'HNRNPUL1', 'score': 12.79}, {'connected_gene': 'POU2F2', 'score': 10.91}, {'connected_gene': 'MEGF8', 'score': 5.26}, {'connected_gene': 'GRIK5', 'score': 4.51}, {'connected_gene': 'TMEM145', 'score': 2.5}, {'connected_gene': 'PAFAH1B3', 'score': 2.4}, {'connected_gene': 'PRR19', 'score': 2.36}, {'connected_gene': 'GSK3A', 'score': 2.35}, {'connected_gene': 'ATP1A3', 'score': 1.63}, {'connected_gene': 'ENSG00000279539', 'score': 0.39}]