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
ENST00000535479	[[7085347, 7086053], [7086295, 7086424], [7086528, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125781]]	[[7087498, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125728]]
ENST00000261407	[[7085347, 7086053], [7086295, 7086424], [7086528, 7086687], [7086759, 7086907], [7087502, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125814]]	[[7086307, 7086424], [7086528, 7086687], [7086759, 7086907], [7087502, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125728]]
ENST00000535021	[[7085967, 7086053], [7086295, 7086424], [7086528, 7086687], [7087582, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090310]]	None
ENST00000540090	[[7086808, 7086907], [7087502, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7125577, 7125778]]	[[7090780, 7090793], [7090971, 7091065], [7125577, 7125728]]
ENST00000543794	[[7086860, 7086907], [7087502, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125778]]	[[7090327, 7090344], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125728]]
ENST00000536797	[[7087001, 7087669], [7087764, 7087851], [7088632, 7088741], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125778]]	[[7088642, 7088741], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125728]]
ENST00000537179	[[7087202, 7087669], [7087764, 7088432]]	None
ENST00000538987	[[7088756, 7089129], [7090165, 7090319]]	None
ENST00000540060	[[7089868, 7090344], [7090755, 7090793], [7090971, 7091019]]	None
ENST00000539868	[[7090455, 7090793], [7090971, 7091065], [7091836, 7091944]]	None
ENST00000536971	[[7090702, 7091065], [7125577, 7125778]]	None
ENST00000545459	[[7090720, 7091065], [7091836, 7091943], [7092592, 7092626]]	None
ENST00000538910	[[7090969, 7091065], [7091836, 7091943], [7092592, 7092700], [7108732, 7108791], [7125577, 7125778]]	[[7108747, 7108791], [7125577, 7125728]]
NM_005768	[[7085346, 7086053], [7086295, 7086424], [7086528, 7086687], [7086759, 7086907], [7087502, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125842]]	[[7086307, 7086424], [7086528, 7086687], [7086759, 7086907], [7087502, 7087669], [7087764, 7087851], [7088632, 7088741], [7090165, 7090344], [7090755, 7090793], [7090971, 7091065], [7091836, 7091943], [7092592, 7092700], [7125577, 7125728]]

Promoter

Chrom	Start	End	Description
chr12	7088689	7088708	CAGE_peak_2_at_LPCAT3_5end
chr12	7125770	7125835	CAGE_peak_1_at_LPCAT3_5end
chr12	7125836	7125847	CAGE_peak_4_at_LPCAT3_5end
chr12	7126128	7126149	CAGE_peak_5_at_LPCAT3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I006987	6987180	6988965	0.43	[{'connected_gene': 'C1S', 'score': 550.77}, {'connected_gene': 'GC12P007502', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.29}]
chr12	GH12I006989	6989069	6989218	0.38	[{'connected_gene': 'C1S', 'score': 550.77}, {'connected_gene': 'PIR35791', 'score': 0.44}, {'connected_gene': 'GC12M007000', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.31}]
chr12	GH12I006940	6940697	6966619	2.68	[{'connected_gene': 'PTPN6', 'score': 557.98}, {'connected_gene': 'C12orf57', 'score': 550.39}, {'connected_gene': 'ZNF384', 'score': 124.61}, {'connected_gene': 'ENSG00000219410', 'score': 92.91}, {'connected_gene': 'CHD4', 'score': 77.35}, {'connected_gene': 'ENSG00000247853', 'score': 70.62}, {'connected_gene': 'SPSB2', 'score': 60.08}, {'connected_gene': 'SCARNA12', 'score': 44.83}, {'connected_gene': 'ENSG00000256967', 'score': 42.67}, {'connected_gene': 'NCAPD2', 'score': 35.97}, {'connected_gene': 'C1RL-AS1', 'score': 34.23}, {'connected_gene': 'NOP2', 'score': 34.1}, {'connected_gene': 'EMG1', 'score': 25.74}, {'connected_gene': 'ATN1', 'score': 23.48}, {'connected_gene': 'PHB2', 'score': 23.08}, {'connected_gene': 'LAG3', 'score': 22.48}, {'connected_gene': 'ING4', 'score': 20.97}, {'connected_gene': 'LRRC23', 'score': 18.43}, {'connected_gene': 'LPCAT3', 'score': 15.14}, {'connected_gene': 'P3H3', 'score': 11.05}, {'connected_gene': 'TNFRSF1A', 'score': 11.01}, {'connected_gene': 'GNB3', 'score': 10.5}, {'connected_gene': 'LTBR', 'score': 10.0}, {'connected_gene': 'GDF3', 'score': 10.0}, {'connected_gene': 'RPL13P5', 'score': 9.83}, {'connected_gene': 'PEX5', 'score': 4.46}, {'connected_gene': 'MLF2', 'score': 4.44}, {'connected_gene': 'CD4', 'score': 3.77}, {'connected_gene': 'VAMP1', 'score': 1.82}, {'connected_gene': 'ACSM4', 'score': 1.39}, {'connected_gene': 'PIR39346', 'score': 0.44}, {'connected_gene': 'LOC105369634', 'score': 0.44}, {'connected_gene': 'RNU7-1', 'score': 0.44}, {'connected_gene': 'ENSG00000272173', 'score': 0.44}, {'connected_gene': 'MIR200CHG', 'score': 0.44}, {'connected_gene': 'GC12P007499', 'score': 0.44}, {'connected_gene': 'ENSG00000271969', 'score': 0.39}, {'connected_gene': 'MIR200C', 'score': 0.39}, {'connected_gene': 'MIR141', 'score': 0.39}, {'connected_gene': 'GC12P007501', 'score': 0.39}, {'connected_gene': 'GC12P007500', 'score': 0.39}, {'connected_gene': 'GC12P007498', 'score': 0.39}]
chr12	GH12I006979	6979315	6982657	0.87	[{'connected_gene': 'EMG1', 'score': 9.89}, {'connected_gene': 'GC12P007502', 'score': 0.77}, {'connected_gene': 'C1S', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.28}]
chr12	GH12I006967	6967216	6972618	2.09	[{'connected_gene': 'EMG1', 'score': 577.09}, {'connected_gene': 'PHB2', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 34.76}, {'connected_gene': 'CHD4', 'score': 26.07}, {'connected_gene': 'ENSG00000247853', 'score': 21.16}, {'connected_gene': 'NOP2', 'score': 19.94}, {'connected_gene': 'ENSG00000219410', 'score': 13.53}, {'connected_gene': 'SCARNA12', 'score': 10.64}, {'connected_gene': 'GDF3', 'score': 10.0}, {'connected_gene': 'LPCAT3', 'score': 6.27}, {'connected_gene': 'ATN1', 'score': 5.94}, {'connected_gene': 'GC12M006968', 'score': 0.77}]
chr12	GH12I007016	7016864	7019561	2.25	[{'connected_gene': 'LPCAT3', 'score': 550.77}, {'connected_gene': 'GC12M007017', 'score': 550.77}, {'connected_gene': 'PIR59434', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 24.16}, {'connected_gene': 'NOP2', 'score': 16.14}, {'connected_gene': 'ENSG00000219410', 'score': 16.14}, {'connected_gene': 'ENSG00000247853', 'score': 15.1}, {'connected_gene': 'SCARNA12', 'score': 14.06}, {'connected_gene': 'ENSG00000256967', 'score': 13.28}, {'connected_gene': 'C1RL-AS1', 'score': 12.18}, {'connected_gene': 'LAG3', 'score': 12.14}, {'connected_gene': 'CHD4', 'score': 12.01}, {'connected_gene': 'NCAPD2', 'score': 11.97}, {'connected_gene': 'SPSB2', 'score': 11.89}, {'connected_gene': 'CLSTN3', 'score': 5.06}, {'connected_gene': 'C1S', 'score': 0.31}]
chr12	GH12I007059	7059534	7062000	1.58	[{'connected_gene': 'PIR53702', 'score': 550.77}, {'connected_gene': 'GC12P007522', 'score': 550.77}, {'connected_gene': 'GC12P007517', 'score': 550.77}, {'connected_gene': 'GC12P007532', 'score': 550.77}, {'connected_gene': 'PIR40185', 'score': 550.77}, {'connected_gene': 'PIR50287', 'score': 550.77}, {'connected_gene': 'GC12P007527', 'score': 550.77}, {'connected_gene': 'PIR45028', 'score': 550.77}, {'connected_gene': 'GC12P007530', 'score': 550.77}, {'connected_gene': 'PIR61112', 'score': 550.77}, {'connected_gene': 'C1S', 'score': 550.19}, {'connected_gene': 'C1R', 'score': 11.98}, {'connected_gene': 'C1RL', 'score': 11.93}, {'connected_gene': 'C1RL-AS1', 'score': 11.9}, {'connected_gene': 'LPCAT3', 'score': 11.45}, {'connected_gene': 'EMG1', 'score': 10.95}, {'connected_gene': 'PHB2', 'score': 10.95}, {'connected_gene': 'SCARNA12', 'score': 10.94}, {'connected_gene': 'RNU6-485P', 'score': 10.73}]
chr12	GH12I006995	6995429	6997277	0.75	[{'connected_gene': 'PIR35791', 'score': 0.77}, {'connected_gene': 'GC12M007000', 'score': 0.77}, {'connected_gene': 'C1S', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.34}]
chr12	GH12I006997	6997881	6999607	0.62	[{'connected_gene': 'PIR35791', 'score': 550.77}, {'connected_gene': 'GC12M007000', 'score': 550.77}, {'connected_gene': 'C1S', 'score': 0.39}, {'connected_gene': 'LPCAT3', 'score': 0.37}]
chr12	GH12I006344	6344802	6348416	1.68	[{'connected_gene': 'GC12P006346', 'score': 550.77}, {'connected_gene': 'CHD4', 'score': 28.14}, {'connected_gene': 'ENSG00000219410', 'score': 24.65}, {'connected_gene': 'ZNF384', 'score': 24.17}, {'connected_gene': 'ENSG00000247853', 'score': 23.59}, {'connected_gene': 'PHB2', 'score': 13.33}, {'connected_gene': 'LTBR', 'score': 12.44}, {'connected_gene': 'SCNN1A', 'score': 12.42}, {'connected_gene': 'VAMP1', 'score': 12.36}, {'connected_gene': 'C1RL-AS1', 'score': 12.16}, {'connected_gene': 'ENSG00000256967', 'score': 11.92}, {'connected_gene': 'SCARNA12', 'score': 11.39}, {'connected_gene': 'SCARNA11', 'score': 10.62}, {'connected_gene': 'SPSB2', 'score': 10.03}, {'connected_gene': 'LPCAT3', 'score': 9.82}, {'connected_gene': 'ACRBP', 'score': 9.6}, {'connected_gene': 'IFFO1', 'score': 9.22}, {'connected_gene': 'NOP2', 'score': 9.22}, {'connected_gene': 'ING4', 'score': 8.92}, {'connected_gene': 'TNFRSF1A', 'score': 5.98}, {'connected_gene': 'TAPBPL', 'score': 5.69}, {'connected_gene': 'CD4', 'score': 2.85}, {'connected_gene': 'RN7SL391P', 'score': 0.77}, {'connected_gene': 'LOC105369626', 'score': 0.37}]
chr12	GH12I006978	6978360	6979205	0.62	[{'connected_gene': 'GC12P007502', 'score': 550.77}, {'connected_gene': 'EMG1', 'score': 8.72}, {'connected_gene': 'C1S', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.28}]