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
ENST00000600490	[[18718239, 18718316], [18723660, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729082], [18729184, 18729302], [18731217, 18731849]]	[[18723768, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729082], [18729184, 18729302], [18731217, 18731346]]
ENST00000262817	[[18723681, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729082], [18729184, 18729302], [18731217, 18731841]]	[[18723768, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729082], [18729184, 18729302], [18731217, 18731346]]
ENST00000594859	[[18723682, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18728719]]	None
ENST00000598660	[[18723686, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729302], [18731217, 18731816]]	None
ENST00000594709	[[18726785, 18726937], [18727809, 18727912], [18728964, 18729032], [18729184, 18729264]]	[[18726785, 18726937], [18727809, 18727912], [18728964, 18729032], [18729184, 18729264]]
NM_012109	[[18723681, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729082], [18729184, 18729302], [18731217, 18731849]]	[[18723768, 18723939], [18724681, 18724826], [18724913, 18725005], [18726784, 18726937], [18727809, 18727912], [18728964, 18729082], [18729184, 18729302], [18731217, 18731346]]

Promoter

Chrom	Start	End	Description
chr19	18723312	18723335	CAGE_peak_3_at_TMEM59L_5end
chr19	18723386	18723423	CAGE_peak_5_at_TMEM59L_5end
chr19	18723660	18723743	CAGE_peak_1_at_TMEM59L_5end
chr19	18723748	18723770	CAGE_peak_2_at_TMEM59L_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	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	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	GH19I018669	18669200	18670772	0.38	[{'connected_gene': 'KLHL26', 'score': 5.78}, {'connected_gene': 'TMEM59L', 'score': 5.75}, {'connected_gene': 'SNORA68', 'score': 5.46}, {'connected_gene': 'CRTC1', '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	GH19I018671	18671855	18673320	0.86	[{'connected_gene': 'REX1BD', 'score': 11.62}, {'connected_gene': 'CRTC1', 'score': 6.16}, {'connected_gene': 'SNORA68', 'score': 5.27}, {'connected_gene': 'TMEM59L', 'score': 4.42}, {'connected_gene': 'KLHL26', 'score': 0.28}]
chr19	GH19I018893	18893193	18896401	2.16	[{'connected_gene': 'GDF1', 'score': 590.1}, {'connected_gene': 'CERS1', 'score': 550.77}, {'connected_gene': 'TMEM59L', 'score': 8.37}, {'connected_gene': 'CRTC1', 'score': 7.81}, {'connected_gene': 'HAPLN4', 'score': 5.64}, {'connected_gene': 'HOMER3', 'score': 5.27}, {'connected_gene': 'NCAN', 'score': 4.07}, {'connected_gene': 'SUGP2', 'score': 2.99}, {'connected_gene': 'KLHL26', 'score': 2.23}, {'connected_gene': 'SLC25A42', 'score': 1.39}, {'connected_gene': 'ENSG00000269694', 'score': 0.39}, {'connected_gene': 'GC19M018886', 'score': 0.39}]
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	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}]