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
ENST00000262418	[[42325752, 42327906], [42328526, 42328700], [42328786, 42328956], [42330485, 42330739], [42331863, 42332030], [42332574, 42332664], [42333040, 42333214], [42334717, 42334912], [42335026, 42335175], [42335353, 42335548], [42335780, 42335991], [42336530, 42336712], [42336864, 42336949], [42337176, 42337300], [42337771, 42337907], [42338002, 42338183], [42338942, 42339004], [42340003, 42340094], [42340219, 42340302], [42345421, 42345509]]	[[42327825, 42327906], [42328526, 42328700], [42328786, 42328956], [42330485, 42330739], [42331863, 42332030], [42332574, 42332664], [42333040, 42333214], [42334717, 42334912], [42335026, 42335175], [42335353, 42335548], [42335780, 42335991], [42336530, 42336712], [42336864, 42336949], [42337176, 42337300], [42337771, 42337907], [42338002, 42338183], [42338942, 42339004], [42340003, 42340094], [42340219, 42340234]]
ENST00000497360	[[42334560, 42334912], [42335026, 42335175], [42335353, 42335548], [42335780, 42335991], [42336530, 42336712], [42336864, 42336949], [42337176, 42337300], [42337771, 42337907], [42338002, 42338183], [42338942, 42339004], [42340003, 42340094], [42340219, 42340302], [42345421, 42345492]]	None
ENST00000471005	[[42337771, 42337907], [42338002, 42338183], [42338942, 42339004], [42339394, 42339434]]	None
ENST00000498270	[[42338172, 42338183], [42338942, 42339004], [42340003, 42340302], [42345421, 42345509]]	None
NM_000342	[[42325757, 42327906], [42328526, 42328700], [42328786, 42328956], [42330485, 42330739], [42331863, 42332030], [42332574, 42332664], [42333040, 42333214], [42334717, 42334912], [42335026, 42335175], [42335353, 42335548], [42335780, 42335991], [42336530, 42336712], [42336864, 42336949], [42337176, 42337300], [42337771, 42337907], [42338002, 42338183], [42338942, 42339004], [42340003, 42340094], [42340219, 42340302], [42345421, 42345502]]	[[42327825, 42327906], [42328526, 42328700], [42328786, 42328956], [42330485, 42330739], [42331863, 42332030], [42332574, 42332664], [42333040, 42333214], [42334717, 42334912], [42335026, 42335175], [42335353, 42335548], [42335780, 42335991], [42336530, 42336712], [42336864, 42336949], [42337176, 42337300], [42337771, 42337907], [42338002, 42338183], [42338942, 42339004], [42340003, 42340094], [42340219, 42340234]]

Promoter

Chrom	Start	End	Description
chr17	42335778	42335781	CAGE_peak_4_at_SLC4A1_5end
chr17	42335924	42335934	CAGE_peak_6_at_SLC4A1_5end
chr17	42335947	42335956	CAGE_peak_7_at_SLC4A1_5end
chr17	42339431	42339436	CAGE_peak_3_at_SLC4A1_5end
chr17	42340271	42340298	CAGE_peak_5_at_SLC4A1_5end
chr17	42345472	42345483	CAGE_peak_2_at_SLC4A1_5end
chr17	42345487	42345514	CAGE_peak_1_at_SLC4A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I044286	44283475	44283656	0.57	[{'connected_gene': 'SLC4A1', 'score': 38.88}, {'connected_gene': 'UBTF', 'score': 2.63}, {'connected_gene': 'SLC25A39', 'score': 1.73}, {'connected_gene': 'RN7SL507P', 'score': 0.44}, {'connected_gene': 'LOC105371790', 'score': 0.44}, {'connected_gene': 'GC17M044291', 'score': 0.44}]
chr17	GH17I044281	44281635	44281933	0.94	[{'connected_gene': 'SLC4A1', 'score': 50.46}, {'connected_gene': 'SLC25A39', 'score': 10.13}, {'connected_gene': 'UBTF', 'score': 2.4}, {'connected_gene': 'RUNDC3A', 'score': 1.64}, {'connected_gene': 'RN7SL507P', 'score': 0.44}, {'connected_gene': 'LOC105371790', 'score': 0.44}, {'connected_gene': 'GC17M044291', 'score': 0.44}]
chr17	GH17I044268	44268490	44271317	0.81	[{'connected_gene': 'SLC4A1', 'score': 590.13}, {'connected_gene': 'GRN', 'score': 5.75}, {'connected_gene': 'SLC25A39', 'score': 3.92}, {'connected_gene': 'UBTF', 'score': 2.39}, {'connected_gene': 'RUNDC3A', 'score': 1.68}, {'connected_gene': 'LOC105371790', 'score': 0.44}]
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	GH17I044266	44266083	44267774	1.2	[{'connected_gene': 'SLC4A1', 'score': 589.92}, {'connected_gene': 'FAM187A', 'score': 4.22}, {'connected_gene': 'UBTF', 'score': 2.83}, {'connected_gene': 'SLC25A39', 'score': 1.76}, {'connected_gene': 'GC17M044250', 'score': 0.37}]
chr17	GH17I044269	44268125	44268184	0.68	[{'connected_gene': 'SLC4A1', 'score': 550.77}, {'connected_gene': 'GC17M044250', 'score': 0.37}]
chr17	GH17I044323	44323572	44327416	2.52	[{'connected_gene': 'SLC25A39', 'score': 572.43}, {'connected_gene': 'SLC4A1', 'score': 30.08}, {'connected_gene': 'UBTF', 'score': 2.45}, {'connected_gene': 'ASB16-AS1', 'score': 1.68}, {'connected_gene': 'ITGA2B', 'score': 1.56}, {'connected_gene': 'TMUB2', 'score': 1.36}, {'connected_gene': 'ENSG00000267211', 'score': 0.77}, {'connected_gene': 'GC17P044298', 'score': 0.31}, {'connected_gene': 'GC17P044299', 'score': 0.31}]
chr17	GH17I044344	44344432	44349883	2.56	[{'connected_gene': 'GRN', 'score': 559.57}, {'connected_gene': 'UBTF', 'score': 25.03}, {'connected_gene': 'SLC25A39', 'score': 15.37}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'C17orf53', 'score': 12.91}, {'connected_gene': 'RUNDC3A-AS1', 'score': 12.72}, {'connected_gene': 'TMUB2', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.02}, {'connected_gene': 'LSM12', 'score': 11.82}, {'connected_gene': 'RUNDC3A', 'score': 11.39}, {'connected_gene': 'ENSG00000221496', 'score': 11.38}, {'connected_gene': 'RNU6-453P', 'score': 11.38}, {'connected_gene': 'ASB16-AS1', 'score': 11.37}, {'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'ENSG00000224505', 'score': 11.27}, {'connected_gene': 'SLC4A1', 'score': 11.03}, {'connected_gene': 'CD300LG', 'score': 10.56}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'DHX8', 'score': 10.15}, {'connected_gene': 'HEXIM2', 'score': 9.68}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]