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
ENST00000301488	[[67273967, 67274483], [67274835, 67274968], [67275062, 67275160], [67275471, 67276102]]	[[67274415, 67274483], [67274835, 67274968], [67275062, 67275160], [67275471, 67275553]]
ENST00000525402	[[67273982, 67274483], [67274835, 67274968], [67275062, 67276120]]	None
ENST00000531178	[[67274090, 67274483], [67274835, 67274968], [67275062, 67275160], [67275330, 67275629]]	[[67275367, 67275553]]
ENST00000531506	[[67274523, 67274968], [67275062, 67275160], [67275471, 67275562]]	[[67274827, 67274968], [67275062, 67275160], [67275471, 67275553]]
ENST00000526447	[[67274681, 67274968], [67275062, 67275547]]	None
NR_073484	[[67273960, 67274483], [67274835, 67274968], [67275062, 67275658]]	None
NM_001271849	[[67273960, 67274483], [67274835, 67274968], [67275062, 67275160], [67275330, 67275658]]	[[67274415, 67274483], [67274835, 67274968], [67275062, 67275077]]
NM_005851	[[67273960, 67274483], [67274835, 67274968], [67275062, 67275160], [67275471, 67276199]]	[[67274415, 67274483], [67274835, 67274968], [67275062, 67275160], [67275471, 67275553]]

Promoter

Chrom	Start	End	Description
chr11	67275249	67275299	CAGE_peak_7_at_CDK2AP2_5end
chr11	67275542	67275556	CAGE_peak_4_at_CDK2AP2_5end
chr11	67275568	67275585	CAGE_peak_5_at_CDK2AP2_5end
chr11	67275590	67275616	CAGE_peak_3_at_CDK2AP2_5end
chr11	67275623	67275642	CAGE_peak_1_at_CDK2AP2_5end
chr11	67275664	67275675	CAGE_peak_6_at_CDK2AP2_5end
chr11	67275692	67275699	CAGE_peak_8_at_CDK2AP2_5end
chr11	67276100	67276171	CAGE_peak_2_at_CDK2AP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I066841	66841549	66845165	2.02	[{'connected_gene': 'RCE1', 'score': 550.77}, {'connected_gene': 'C11orf80', 'score': 18.98}, {'connected_gene': 'CTSF', 'score': 17.18}, {'connected_gene': 'ACTN3', 'score': 15.92}, {'connected_gene': 'PC', 'score': 14.48}, {'connected_gene': 'CDK2AP2', 'score': 4.68}, {'connected_gene': 'RIN1', 'score': 4.21}, {'connected_gene': 'LRFN4', 'score': 0.39}]
chr11	GH11I066914	66914570	66916613	0.77	[{'connected_gene': 'ACTN3', 'score': 15.85}, {'connected_gene': 'CDK2AP2', 'score': 6.38}, {'connected_gene': 'RHOD', 'score': 5.79}, {'connected_gene': 'RNU7-23P', 'score': 0.77}, {'connected_gene': 'PIR48595', 'score': 0.77}, {'connected_gene': 'PC', 'score': 0.26}]
chr11	GH11I066889	66889352	66890833	0.46	[{'connected_gene': 'CTSF', 'score': 14.97}, {'connected_gene': 'LRFN4', 'score': 11.56}, {'connected_gene': 'PC', 'score': 11.47}, {'connected_gene': 'RNU7-23P', 'score': 11.37}, {'connected_gene': 'ACTN3', 'score': 7.87}, {'connected_gene': 'CDK2AP2', 'score': 4.77}, {'connected_gene': 'GC11M066908', 'score': 0.37}, {'connected_gene': 'GC11M066909', 'score': 0.37}]
chr11	GH11I066891	66891672	66893510	1.68	[{'connected_gene': 'RAD9A', 'score': 24.09}, {'connected_gene': 'RCE1', 'score': 12.63}, {'connected_gene': 'LRFN4', 'score': 12.21}, {'connected_gene': 'RNU7-23P', 'score': 11.32}, {'connected_gene': 'SYT12', 'score': 11.16}, {'connected_gene': 'ACTN3', 'score': 5.02}, {'connected_gene': 'CDK2AP2', 'score': 4.88}, {'connected_gene': 'CLCF1', 'score': 1.27}, {'connected_gene': 'RBM4', 'score': 1.23}, {'connected_gene': 'GC11M066908', 'score': 0.37}, {'connected_gene': 'GC11M066909', 'score': 0.37}, {'connected_gene': 'PC', 'score': 0.2}]
chr11	GH11I067560	67560925	67564843	1.34	[{'connected_gene': 'PTPRCAP', 'score': 24.9}, {'connected_gene': 'AIP', 'score': 17.07}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'NDUFV1', 'score': 15.88}, {'connected_gene': 'ENSG00000258297', 'score': 14.98}, {'connected_gene': 'PPP6R3', 'score': 14.64}, {'connected_gene': 'RBM14', 'score': 13.24}, {'connected_gene': 'CABP2', 'score': 11.76}, {'connected_gene': 'C11orf72', 'score': 11.73}, {'connected_gene': 'ENSG00000255119', 'score': 11.73}, {'connected_gene': 'DOC2GP', 'score': 11.7}, {'connected_gene': 'NUDT8', 'score': 11.32}, {'connected_gene': 'TBX10', 'score': 11.3}, {'connected_gene': 'ACY3', 'score': 11.11}, {'connected_gene': 'ENSG00000227834', 'score': 11.1}, {'connected_gene': 'RBM4', 'score': 9.95}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'CDK2AP2', 'score': 4.69}, {'connected_gene': 'GC11M067541', 'score': 0.34}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11	GH11I067557	67557530	67560270	1.4	[{'connected_gene': 'PTPRCAP', 'score': 25.85}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'NDUFV1', 'score': 4.4}, {'connected_gene': 'NUDT8', 'score': 4.17}, {'connected_gene': 'CDK2AP2', 'score': 2.51}, {'connected_gene': 'GC11M067541', 'score': 0.37}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11	GH11I067523	67523436	67523495	0.5	[{'connected_gene': 'CABP2', 'score': 550.77}, {'connected_gene': 'CARNS1', 'score': 4.47}, {'connected_gene': 'CDK2AP2', 'score': 0.39}]
chr11	GH11I067612	67612563	67616707	1.28	[{'connected_gene': 'DOC2GP', 'score': 561.39}, {'connected_gene': 'NUDT8', 'score': 25.39}, {'connected_gene': 'ANKRD13D', 'score': 10.28}, {'connected_gene': 'RAD9A', 'score': 10.05}, {'connected_gene': 'CDK2AP2', 'score': 6.18}, {'connected_gene': 'PIR42297', 'score': 0.44}, {'connected_gene': 'GC11M067584', 'score': 0.39}]
chr11	GH11I066880	66880712	66884379	1.29	[{'connected_gene': 'RHOD', 'score': 22.37}, {'connected_gene': 'C11orf80', 'score': 19.65}, {'connected_gene': 'ACTN3', 'score': 16.62}, {'connected_gene': 'CTSF', 'score': 14.59}, {'connected_gene': 'RAD9A', 'score': 13.59}, {'connected_gene': 'RCE1', 'score': 12.33}, {'connected_gene': 'LRFN4', 'score': 12.2}, {'connected_gene': 'PC', 'score': 12.08}, {'connected_gene': 'RNU7-23P', 'score': 11.23}, {'connected_gene': 'LOC100505504', 'score': 10.16}, {'connected_gene': 'ZDHHC24', 'score': 10.0}, {'connected_gene': 'ENSG00000250105', 'score': 6.71}, {'connected_gene': 'CDK2AP2', 'score': 4.8}, {'connected_gene': 'GC11M066908', 'score': 0.31}, {'connected_gene': 'GC11M066909', 'score': 0.31}]
chr11	GH11I067077	67077083	67079599	1.54	[{'connected_gene': 'RHOD', 'score': 18.58}, {'connected_gene': 'KDM2A', 'score': 14.67}, {'connected_gene': 'ANKRD13D', 'score': 12.52}, {'connected_gene': 'CDK2AP2', 'score': 4.25}, {'connected_gene': 'GRK2', 'score': 3.7}, {'connected_gene': 'RBM4', 'score': 1.79}, {'connected_gene': 'CLCF1', 'score': 1.76}, {'connected_gene': 'SSH3', 'score': 1.63}, {'connected_gene': 'TMEM134', 'score': 1.43}, {'connected_gene': 'PITPNM1', 'score': 1.1}, {'connected_gene': 'GC11P067094', 'score': 0.37}]
chr11	GH11I067579	67579219	67589454	2.46	[{'connected_gene': 'GSTP1', 'score': 550.77}, {'connected_gene': 'ENSG00000255119', 'score': 39.0}, {'connected_gene': 'NUDT8', 'score': 36.19}, {'connected_gene': 'PTPRCAP', 'score': 24.66}, {'connected_gene': 'NDUFV1', 'score': 18.26}, {'connected_gene': 'C11orf72', 'score': 12.6}, {'connected_gene': 'DOC2GP', 'score': 12.56}, {'connected_gene': 'RHOD', 'score': 11.38}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ALDH3B2', 'score': 6.44}, {'connected_gene': 'CDK2AP2', 'score': 6.2}, {'connected_gene': 'ACY3', 'score': 4.82}, {'connected_gene': 'FAM86C2P', 'score': 4.06}, {'connected_gene': 'GC11P067588', 'score': 0.77}, {'connected_gene': 'GC11M067584', 'score': 0.26}]
chr11	GH11I067620	67620286	67621689	0.7	[{'connected_gene': 'NUDT8', 'score': 25.08}, {'connected_gene': 'DOC2GP', 'score': 24.29}, {'connected_gene': 'ACY3', 'score': 11.66}, {'connected_gene': 'ENSG00000227834', 'score': 11.64}, {'connected_gene': 'CDK2AP2', 'score': 6.15}, {'connected_gene': 'PTPRCAP', 'score': 5.69}, {'connected_gene': 'GC11M067584', 'score': 0.44}]
chr11	GH11I067627	67627004	67635571	2.28	[{'connected_gene': 'NUDT8', 'score': 576.7}, {'connected_gene': 'DOC2GP', 'score': 23.88}, {'connected_gene': 'ENSG00000255119', 'score': 23.38}, {'connected_gene': 'ANKRD13D', 'score': 10.26}, {'connected_gene': 'CDK2AP2', 'score': 6.14}, {'connected_gene': 'NDUFV1', 'score': 4.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
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	GH11I067503	67503960	67511403	2.31	[{'connected_gene': 'CDK2AP2', 'score': 557.65}, {'connected_gene': 'PITPNM1', 'score': 550.77}, {'connected_gene': 'PPP6R3', 'score': 24.17}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'CTSF', 'score': 11.79}, {'connected_gene': 'KDM2A', 'score': 11.68}, {'connected_gene': 'RHOD', 'score': 11.4}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'PTPRCAP', 'score': 4.34}]
chr11	GH11I067488	67488968	67492884	0.54	[{'connected_gene': 'MIR6752', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 28.4}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'C11orf80', 'score': 5.3}, {'connected_gene': 'CDK2AP2', 'score': 4.81}, {'connected_gene': 'AIP', 'score': 0.44}, {'connected_gene': 'PITPNM1', 'score': 0.37}]
chr11	GH11I067604	67604810	67608425	2.27	[{'connected_gene': 'ENSG00000255119', 'score': 581.95}, {'connected_gene': 'NDUFV1', 'score': 556.87}, {'connected_gene': 'PIR42297', 'score': 550.77}, {'connected_gene': 'C11orf72', 'score': 550.77}, {'connected_gene': 'NUDT8', 'score': 25.18}, {'connected_gene': 'CDK2AP2', 'score': 6.17}, {'connected_gene': 'GC11M067584', 'score': 0.34}]