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
ENST00000312989	[[67165653, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168703], [67169198, 67169264]]	[[67166005, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168703], [67169198, 67169253]]
ENST00000532446	[[67165671, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168670], [67168855, 67169048]]	None
ENST00000526510	[[67165671, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67169075]]	None
ENST00000376745	[[67165671, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168670], [67169198, 67169402]]	[[67166005, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168670], [67169198, 67169253]]
ENST00000358239	[[67165901, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67169198, 67169342]]	[[67166005, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67169198, 67169253]]
ENST00000532279	[[67166052, 67166116], [67166192, 67166634], [67167031, 67167077]]	None
ENST00000527663	[[67166210, 67166327], [67166410, 67166634], [67168159, 67168390], [67168538, 67168670], [67169198, 67169259]]	[[67166210, 67166327], [67166410, 67166634], [67168159, 67168390], [67168538, 67168670], [67169198, 67169253]]
ENST00000537694	[[67166406, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168670], [67174549, 67174735]]	None
ENST00000529724	[[67168186, 67168670], [67169198, 67169286]]	None
ENST00000546202	[[67168325, 67168390], [67168538, 67168670], [67186914, 67187068], [67188449, 67188652]]	[[67168325, 67168390], [67168538, 67168670], [67186914, 67187068], [67188449, 67188605]]
ENST00000542876	[[67168329, 67168390], [67168538, 67168670], [67186878, 67187068], [67188449, 67188654]]	[[67168329, 67168390], [67168538, 67168670], [67186878, 67187068], [67188449, 67188605]]
NM_001008709	[[67165651, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168703], [67169198, 67169376]]	[[67166005, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168703], [67169198, 67169253]]
NM_002708	[[67165651, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168670], [67169198, 67169376]]	[[67166005, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67168538, 67168670], [67169198, 67169253]]
NM_206873	[[67165651, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67169198, 67169376]]	[[67166005, 67166116], [67166192, 67166327], [67166410, 67166634], [67167031, 67167136], [67168159, 67168390], [67169198, 67169253]]

Promoter

Chrom	Start	End	Description
chr11	67169036	67169086	CAGE_peak_3_at_PPP1CA_5end
chr11	67169253	67169264	CAGE_peak_4_at_PPP1CA_5end
chr11	67169265	67169355	CAGE_peak_1_at_PPP1CA_5end
chr11	67174819	67174825	CAGE_peak_14_at_PPP1CA_5end
chr11	67188611	67188631	CAGE_peak_5_at_PPP1CA_5end
chr11	67188642	67188666	CAGE_peak_2_at_PPP1CA_5end
chr11	67188673	67188690	CAGE_peak_6_at_PPP1CA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I067344	67344270	67347301	1.28	[{'connected_gene': 'RAD9A', 'score': 23.88}, {'connected_gene': 'ENSG00000258297', 'score': 19.02}, {'connected_gene': 'KMT5B', 'score': 18.03}, {'connected_gene': 'RBM14', 'score': 16.55}, {'connected_gene': 'RBM4', 'score': 15.97}, {'connected_gene': 'KDM2A', 'score': 14.86}, {'connected_gene': 'CLCF1', 'score': 12.51}, {'connected_gene': 'ENSG00000256514', 'score': 12.51}, {'connected_gene': 'RCE1', 'score': 11.78}, {'connected_gene': 'SSH3', 'score': 11.69}, {'connected_gene': 'ANKRD13D', 'score': 11.65}, {'connected_gene': 'RPS6KB2', 'score': 11.36}, {'connected_gene': 'PPP1CA', 'score': 11.35}, {'connected_gene': 'RNU6-1238P', 'score': 11.3}, {'connected_gene': 'TBC1D10C', 'score': 11.27}, {'connected_gene': 'CARNS1', 'score': 11.25}, {'connected_gene': 'RHOD', 'score': 4.45}, {'connected_gene': 'GC11P067352', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.31}]
chr11	GH11I067347	67347906	67350214	1.35	[{'connected_gene': 'RAD9A', 'score': 24.3}, {'connected_gene': 'ENSG00000256514', 'score': 12.54}, {'connected_gene': 'CLCF1', 'score': 12.51}, {'connected_gene': 'RCE1', 'score': 12.41}, {'connected_gene': 'RNU6-1238P', 'score': 11.7}, {'connected_gene': 'TBC1D10C', 'score': 11.69}, {'connected_gene': 'SSH3', 'score': 11.67}, {'connected_gene': 'CARNS1', 'score': 11.66}, {'connected_gene': 'PPP1CA', 'score': 11.65}, {'connected_gene': 'ANKRD13D', 'score': 11.63}, {'connected_gene': 'GC11P067352', 'score': 0.77}, {'connected_gene': 'LOC100130987', 'score': 0.29}]
chr11	GH11I067382	67382236	67382272	0.51	[{'connected_gene': 'POLD4', 'score': 13.15}, {'connected_gene': 'CARNS1', 'score': 12.02}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.21}, {'connected_gene': 'RAD9A', 'score': 0.21}]
chr11	GH11I067414	67414870	67421807	2.16	[{'connected_gene': 'CARNS1', 'score': 557.84}, {'connected_gene': 'RAD9A', 'score': 18.61}, {'connected_gene': 'PTPRCAP', 'score': 11.88}, {'connected_gene': 'SSH3', 'score': 9.45}, {'connected_gene': 'ANKRD13D', 'score': 5.71}, {'connected_gene': 'C11orf80', 'score': 5.15}, {'connected_gene': 'PPP1CA', 'score': 0.77}]
chr11	GH11I067380	67380719	67382118	1.03	[{'connected_gene': 'CARNS1', 'score': 22.82}, {'connected_gene': 'SSH3', 'score': 16.03}, {'connected_gene': 'POLD4', 'score': 13.18}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.21}, {'connected_gene': 'RAD9A', 'score': 0.21}]
chr11	GH11I067422	67422744	67423659	0.64	[{'connected_gene': 'PPP1CA', 'score': 0.77}, {'connected_gene': 'CARNS1', 'score': 0.44}, {'connected_gene': 'RPS6KB2', 'score': 0.44}]
chr11	GH11I067412	67412500	67412989	0.69	[{'connected_gene': 'SSH3', 'score': 12.07}, {'connected_gene': 'CARNS1', 'score': 0.77}, {'connected_gene': 'PPP1CA', 'score': 0.44}, {'connected_gene': 'TBC1D10C', 'score': 0.44}]
chr11	GH11I067251	67251936	67255454	0.82	[{'connected_gene': 'SSH3', 'score': 28.91}, {'connected_gene': 'ANKRD13D', 'score': 25.26}, {'connected_gene': 'POLD4', 'score': 11.78}, {'connected_gene': 'RN7SKP239', 'score': 11.78}, {'connected_gene': 'ENSG00000256514', 'score': 11.76}, {'connected_gene': 'CLCF1', 'score': 11.76}, {'connected_gene': 'PPP1CA', 'score': 10.82}, {'connected_gene': 'RPS6KB2', 'score': 10.66}, {'connected_gene': 'PTPRCAP', 'score': 10.66}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.66}, {'connected_gene': 'RHOD', 'score': 7.73}, {'connected_gene': 'PIR44214', 'score': 0.44}, {'connected_gene': 'PIR33652', 'score': 0.39}, {'connected_gene': 'KDM2A', 'score': 0.12}]
chr11	GH11I067401	67400230	67412231	2.21	[{'connected_gene': 'TBC1D10C', 'score': 554.72}, {'connected_gene': 'PPP1CA', 'score': 550.39}, {'connected_gene': 'SSH3', 'score': 12.14}, {'connected_gene': 'PTPRCAP', 'score': 11.81}, {'connected_gene': 'CARNS1', 'score': 10.6}, {'connected_gene': 'RAD9A', 'score': 8.37}, {'connected_gene': 'AIP', 'score': 4.58}]
chr11	GH11I067364	67364699	67377015	2.71	[{'connected_gene': 'CLCF1', 'score': 553.51}, {'connected_gene': 'SSH3', 'score': 16.09}, {'connected_gene': 'ANKRD13D', 'score': 12.56}, {'connected_gene': 'PTPRCAP', 'score': 11.71}, {'connected_gene': 'RHOD', 'score': 6.49}, {'connected_gene': 'RAD9A', 'score': 5.89}, {'connected_gene': 'NDUFS8', 'score': 4.4}, {'connected_gene': 'CDK2AP2', 'score': 3.69}, {'connected_gene': 'PPP1CA', 'score': 1.79}, {'connected_gene': 'ENSG00000275484', 'score': 0.77}, {'connected_gene': 'ENSG00000256514', 'score': 0.77}, {'connected_gene': 'RN7SKP239', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.23}]
chr11	GH11I067338	67338523	67338825	0.24	[{'connected_gene': 'RN7SKP239', 'score': 12.92}, {'connected_gene': 'ENSG00000256514', 'score': 12.88}, {'connected_gene': 'CLCF1', 'score': 12.86}, {'connected_gene': 'SSH3', 'score': 12.27}, {'connected_gene': 'ANKRD13D', 'score': 12.22}, {'connected_gene': 'PPP1CA', 'score': 11.37}, {'connected_gene': 'PTPRCAP', 'score': 11.11}, {'connected_gene': 'RPS6KB2', 'score': 10.76}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.75}, {'connected_gene': 'RHOD', 'score': 9.75}, {'connected_gene': 'KDM2A', 'score': 9.69}, {'connected_gene': 'GC11P067352', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.34}, {'connected_gene': 'RAD9A', 'score': 0.34}]
chr11	GH11I067400	67399310	67399459	0.31	[{'connected_gene': 'RNU6-1238P', 'score': 0.77}, {'connected_gene': 'TBC1D10C', 'score': 0.77}, {'connected_gene': 'PPP1CA', 'score': 0.34}]
chr11	GH11I067399	67399070	67399219	0.31	[{'connected_gene': 'RNU6-1238P', 'score': 0.77}, {'connected_gene': 'TBC1D10C', 'score': 0.77}, {'connected_gene': 'PPP1CA', 'score': 0.34}]
chr11	GH11I067316	67316428	67318713	1.56	[{'connected_gene': 'LOC100130987', 'score': 550.77}, {'connected_gene': 'RAD9A', 'score': 550.77}, {'connected_gene': 'SSH3', 'score': 21.83}, {'connected_gene': 'ENSG00000258297', 'score': 17.15}, {'connected_gene': 'RBM4', 'score': 14.28}, {'connected_gene': 'KMT5B', 'score': 13.82}, {'connected_gene': 'RBM14', 'score': 13.16}, {'connected_gene': 'GRK2', 'score': 12.77}, {'connected_gene': 'UNC93B1', 'score': 12.57}, {'connected_gene': 'POLD4', 'score': 12.37}, {'connected_gene': 'RN7SKP239', 'score': 12.36}, {'connected_gene': 'CLCF1', 'score': 12.32}, {'connected_gene': 'ENSG00000256514', 'score': 12.32}, {'connected_gene': 'CORO1B', 'score': 12.03}, {'connected_gene': 'RNU6-1238P', 'score': 11.74}, {'connected_gene': 'TBC1D10C', 'score': 11.72}, {'connected_gene': 'CARNS1', 'score': 11.71}, {'connected_gene': 'PPP1CA', 'score': 11.7}, {'connected_gene': 'KDM2A', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.47}, {'connected_gene': 'RHOD', 'score': 6.58}]
chr11	GH11I067383	67382401	67383198	1.28	[{'connected_gene': 'ENSG00000258297', 'score': 19.43}, {'connected_gene': 'RAD9A', 'score': 19.01}, {'connected_gene': 'KMT5B', 'score': 17.01}, {'connected_gene': 'RBM4', 'score': 14.62}, {'connected_gene': 'RBM14', 'score': 14.57}, {'connected_gene': 'CORO1B', 'score': 13.43}, {'connected_gene': 'RN7SKP239', 'score': 13.18}, {'connected_gene': 'POLD4', 'score': 13.15}, {'connected_gene': 'KDM2A', 'score': 12.2}, {'connected_gene': 'CARNS1', 'score': 12.02}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'CLCF1', 'score': 11.06}, {'connected_gene': 'SSH3', 'score': 10.92}, {'connected_gene': 'CCS', 'score': 9.89}, {'connected_gene': 'PIR46028', 'score': 0.44}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.21}]