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
ENST00000594325	[[18683029, 18683817], [18694379, 18694422], [18705056, 18705245]]	None
ENST00000596360	[[18704046, 18704389], [18704874, 18704944]]	None
ENST00000392386	[[18704046, 18704389], [18704874, 18704917], [18705056, 18705244], [18707431, 18707600], [18707701, 18707859], [18709241, 18709411], [18709581, 18709711], [18710374, 18710656], [18717351, 18717660]]	[[18704375, 18704389], [18704874, 18704917], [18705056, 18705244], [18707431, 18707600], [18707701, 18707859], [18709241, 18709411], [18709581, 18709711], [18710374, 18710656], [18717351, 18717466]]
ENST00000597131	[[18705171, 18705244], [18707473, 18707600], [18707701, 18707859], [18709241, 18709403]]	[[18705171, 18705244], [18707473, 18707600], [18707701, 18707859], [18709241, 18709403]]
ENST00000593286	[[18710509, 18710656], [18718184, 18718551]]	None
NM_004750	[[18704034, 18704389], [18704874, 18704917], [18705056, 18705244], [18707431, 18707600], [18707701, 18707859], [18709241, 18709411], [18709581, 18709711], [18710374, 18710656], [18717351, 18717660]]	[[18704375, 18704389], [18704874, 18704917], [18705056, 18705244], [18707431, 18707600], [18707701, 18707859], [18709241, 18709411], [18709581, 18709711], [18710374, 18710656], [18717351, 18717466]]

Promoter

Chrom	Start	End	Description
chr19	18717589	18717616	CAGE_peak_1_at_CRLF1_5end
chr19	18717627	18717638	CAGE_peak_2_at_CRLF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018603	18603169	18614259	1.92	[{'connected_gene': 'CRLF1', 'score': 560.17}, {'connected_gene': 'TMEM59L', 'score': 556.88}, {'connected_gene': 'GC19P020238', 'score': 550.77}, {'connected_gene': 'UBA52', 'score': 18.66}, {'connected_gene': 'REX1BD', 'score': 8.59}, {'connected_gene': 'KLHL26', 'score': 5.39}, {'connected_gene': 'SSBP4', 'score': 4.67}, {'connected_gene': 'KXD1', 'score': 4.49}, {'connected_gene': 'CRTC1', 'score': 1.92}, {'connected_gene': 'GDF1', 'score': 1.92}, {'connected_gene': 'RAB3A', 'score': 1.68}, {'connected_gene': 'PDE4C', 'score': 1.18}, {'connected_gene': 'RN7SL155P', 'score': 0.34}]
chr19	GH19I018725	18725671	18726443	0.51	[{'connected_gene': 'CRLF1', 'score': 5.85}, {'connected_gene': 'TMEM59L', 'score': 4.58}, {'connected_gene': 'PIR61287', 'score': 0.77}, {'connected_gene': 'GC19M018715', 'score': 0.77}, {'connected_gene': 'CRTC1', 'score': 0.26}]
chr19	GH19I018556	18556552	18559909	2.05	[{'connected_gene': 'KXD1', 'score': 560.85}, {'connected_gene': 'ENSG00000268030', 'score': 18.98}, {'connected_gene': 'UPF1', 'score': 17.74}, {'connected_gene': 'UBA52', 'score': 16.0}, {'connected_gene': 'ENSG00000268938', 'score': 14.97}, {'connected_gene': 'ELL', 'score': 13.94}, {'connected_gene': 'MAU2', 'score': 12.95}, {'connected_gene': 'ENSG00000269191', 'score': 12.46}, {'connected_gene': 'SUGP2', 'score': 11.51}, {'connected_gene': 'NR2C2AP', 'score': 10.08}, {'connected_gene': 'IQCN', 'score': 9.97}, {'connected_gene': 'CRLF1', 'score': 5.97}]
chr19	GH19I018597	18597756	18599105	0.2	[{'connected_gene': 'UBA52', 'score': 12.39}, {'connected_gene': 'KXD1', 'score': 5.21}, {'connected_gene': 'TMEM59L', 'score': 0.44}, {'connected_gene': 'CRLF1', 'score': 0.44}, {'connected_gene': 'REX1BD', 'score': 0.44}]
chr19	GH19I018570	18570722	18573896	2.08	[{'connected_gene': 'UBA52', 'score': 565.61}, {'connected_gene': 'ENSG00000268030', 'score': 18.6}, {'connected_gene': 'UPF1', 'score': 17.74}, {'connected_gene': 'ENSG00000268938', 'score': 14.92}, {'connected_gene': 'ELL', 'score': 13.89}, {'connected_gene': 'MAU2', 'score': 12.95}, {'connected_gene': 'ENSG00000269191', 'score': 12.42}, {'connected_gene': 'KXD1', 'score': 10.38}, {'connected_gene': 'NR2C2AP', 'score': 10.08}, {'connected_gene': 'IQCN', 'score': 9.97}, {'connected_gene': 'ENSG00000268983', 'score': 0.77}, {'connected_gene': 'REX1BD', 'score': 0.37}, {'connected_gene': 'CRLF1', 'score': 0.28}]
chr19	GH19I018596	18596311	18597326	1.02	[{'connected_gene': 'UBA52', 'score': 8.75}, {'connected_gene': 'REX1BD', 'score': 6.13}, {'connected_gene': 'MPV17L2', 'score': 4.79}, {'connected_gene': 'TMEM59L', 'score': 0.39}, {'connected_gene': 'CRLF1', 'score': 0.39}]
chr19	GH19I018593	18593309	18595454	1.63	[{'connected_gene': 'UPF1', 'score': 18.67}, {'connected_gene': 'IQCN', 'score': 15.33}, {'connected_gene': 'ENSG00000268030', 'score': 15.22}, {'connected_gene': 'ENSG00000268938', 'score': 14.78}, {'connected_gene': 'NR2C2AP', 'score': 12.26}, {'connected_gene': 'MAU2', 'score': 11.78}, {'connected_gene': 'ENSG00000269191', 'score': 11.64}, {'connected_gene': 'ELL', 'score': 10.75}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'REX1BD', 'score': 7.14}, {'connected_gene': 'KXD1', 'score': 5.0}, {'connected_gene': 'TMEM59L', 'score': 0.39}, {'connected_gene': 'CRLF1', 'score': 0.39}]
chr19	GH19I018591	18591806	18592400	0.46	[{'connected_gene': 'REX1BD', 'score': 7.94}, {'connected_gene': 'CRLF1', 'score': 6.78}, {'connected_gene': 'TMEM59L', 'score': 0.37}]
chr19	GH19I018587	18587628	18591251	2.32	[{'connected_gene': 'REX1BD', 'score': 563.01}, {'connected_gene': 'ENSG00000268030', 'score': 85.21}, {'connected_gene': 'UPF1', 'score': 78.17}, {'connected_gene': 'ENSG00000268938', 'score': 65.19}, {'connected_gene': 'NR2C2AP', 'score': 64.28}, {'connected_gene': 'ENSG00000269191', 'score': 56.38}, {'connected_gene': 'MAU2', 'score': 53.44}, {'connected_gene': 'IQCN', 'score': 52.41}, {'connected_gene': 'MEF2B', 'score': 37.12}, {'connected_gene': 'ELL', 'score': 28.89}, {'connected_gene': 'KXD1', 'score': 24.04}, {'connected_gene': 'UBA52', 'score': 21.91}, {'connected_gene': 'RPL18A', 'score': 19.97}, {'connected_gene': 'SUGP2', 'score': 18.87}, {'connected_gene': 'TMEM161A', 'score': 11.94}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'RFXANK', 'score': 10.0}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'CRLF1', 'score': 8.19}, {'connected_gene': 'TMEM59L', 'score': 0.37}]
chr19	GH19I018657	18657160	18661749	1.54	[{'connected_gene': 'MAU2', 'score': 22.63}, {'connected_gene': 'IQCN', 'score': 22.61}, {'connected_gene': 'ENSG00000268030', 'score': 22.19}, {'connected_gene': 'UPF1', 'score': 21.58}, {'connected_gene': 'SUGP2', 'score': 18.88}, {'connected_gene': 'CRTC1', 'score': 15.71}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'ENSG00000268938', 'score': 10.63}, {'connected_gene': 'UNC13A', 'score': 10.54}, {'connected_gene': 'TMEM59L', 'score': 10.46}, {'connected_gene': 'NR2C2AP', 'score': 10.46}, {'connected_gene': 'ENSG00000269191', 'score': 10.03}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'IFI30', 'score': 5.55}, {'connected_gene': 'CRLF1', 'score': 4.81}, {'connected_gene': 'KLHL26', 'score': 0.34}]
chr19	GH19I018698	18698902	18701683	1.66	[{'connected_gene': 'CRTC1', 'score': 6.36}, {'connected_gene': 'CRLF1', 'score': 6.21}, {'connected_gene': 'UBA52', 'score': 4.05}, {'connected_gene': 'FKBP8', 'score': 3.6}, {'connected_gene': 'SLC25A42', 'score': 3.33}, {'connected_gene': 'UPF1', 'score': 1.27}, {'connected_gene': 'JUND', 'score': 1.19}, {'connected_gene': 'GC19P020283', 'score': 0.44}, {'connected_gene': 'GC19M018715', 'score': 0.34}]
chr19	GH19I018707	18707859	18710367	0.46	[{'connected_gene': 'CRTC1', 'score': 19.67}, {'connected_gene': 'CRLF1', 'score': 6.03}, {'connected_gene': 'GC19M018715', 'score': 0.39}, {'connected_gene': 'GC19P020283', 'score': 0.37}]
chr19	GH19I018710	18710785	18713793	0.83	[{'connected_gene': 'CRTC1', 'score': 19.43}, {'connected_gene': 'CRLF1', 'score': 6.03}, {'connected_gene': 'GC19M018715', 'score': 0.39}, {'connected_gene': 'GC19P020283', 'score': 0.37}]
chr19	GH19I018586	18586400	18586601	0.38	[{'connected_gene': 'CRTC1', 'score': 11.84}, {'connected_gene': 'REX1BD', 'score': 0.77}, {'connected_gene': 'ENSG00000268983', 'score': 0.37}, {'connected_gene': 'CRLF1', 'score': 0.34}]
chr19	GH19I018414	18414110	18423279	2.85	[{'connected_gene': 'SSBP4', 'score': 571.64}, {'connected_gene': 'NR2C2AP', 'score': 49.04}, {'connected_gene': 'ENSG00000268030', 'score': 42.71}, {'connected_gene': 'UPF1', 'score': 38.14}, {'connected_gene': 'COLGALT1', 'score': 31.13}, {'connected_gene': 'MAU2', 'score': 30.39}, {'connected_gene': 'ENSG00000268938', 'score': 26.71}, {'connected_gene': 'IQCN', 'score': 23.81}, {'connected_gene': 'ENSG00000269191', 'score': 22.31}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'LRRC25', 'score': 10.72}, {'connected_gene': 'ELL', 'score': 10.71}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'MEF2B', 'score': 10.28}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'IFI30', 'score': 8.54}, {'connected_gene': 'IL12RB1', 'score': 6.17}, {'connected_gene': 'PGPEP1', 'score': 4.69}, {'connected_gene': 'JUND', 'score': 3.58}, {'connected_gene': 'ARRDC2', 'score': 2.77}, {'connected_gene': 'ISYNA1', 'score': 2.33}, {'connected_gene': 'KLHL26', 'score': 2.26}, {'connected_gene': 'REX1BD', 'score': 2.08}, {'connected_gene': 'CRLF1', 'score': 1.82}, {'connected_gene': 'KXD1', 'score': 1.79}, {'connected_gene': 'KCNN1', 'score': 1.78}, {'connected_gene': 'LSM4', 'score': 1.58}, {'connected_gene': 'UBA52', 'score': 1.37}, {'connected_gene': 'CCDC124', 'score': 1.21}, {'connected_gene': 'PIR41821', 'score': 0.77}, {'connected_gene': 'PIR44614', 'score': 0.37}, {'connected_gene': 'GC19M018436', 'score': 0.37}]
chr19	GH19I018736	18736529	18744213	1.41	[{'connected_gene': 'COMP', 'score': 7.07}, {'connected_gene': 'CRLF1', 'score': 5.91}, {'connected_gene': 'KXD1', 'score': 4.27}, {'connected_gene': 'GDF1', 'score': 1.56}, {'connected_gene': 'GDF15', 'score': 1.23}, {'connected_gene': 'PIR61287', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.22}]
chr19	GH19I018761	18761509	18765591	1.5	[{'connected_gene': 'COMP', 'score': 9.93}, {'connected_gene': 'CRLF1', 'score': 7.56}, {'connected_gene': 'TMEM59L', 'score': 6.06}, {'connected_gene': 'HAPLN4', 'score': 4.95}, {'connected_gene': 'KXD1', 'score': 4.33}, {'connected_gene': 'GC19P020256', 'score': 0.77}, {'connected_gene': 'GC19M018784', 'score': 0.34}, {'connected_gene': 'CRTC1', 'score': 0.18}]
chr19	GH19I018648	18648375	18651941	1.29	[{'connected_gene': 'ENSG00000268030', 'score': 21.31}, {'connected_gene': 'UPF1', 'score': 20.05}, {'connected_gene': 'ENSG00000268938', 'score': 17.76}, {'connected_gene': 'NR2C2AP', 'score': 15.96}, {'connected_gene': 'ENSG00000269191', 'score': 15.18}, {'connected_gene': 'MAU2', 'score': 13.83}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'MEF2B', 'score': 10.51}, {'connected_gene': 'ELL', 'score': 10.36}, {'connected_gene': 'CRTC1', 'score': 5.47}, {'connected_gene': 'KLHL26', 'score': 5.24}, {'connected_gene': 'SNORA68', 'score': 5.06}, {'connected_gene': 'KXD1', 'score': 4.93}, {'connected_gene': 'CRLF1', 'score': 4.21}, {'connected_gene': 'COMP', 'score': 2.44}, {'connected_gene': 'COPE', 'score': 2.22}, {'connected_gene': 'TMEM161A', 'score': 1.43}]