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
ENST00000447857	[[49891474, 49891584], [49894045, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288], [49912452, 49912540], [49913009, 49913132], [49916224, 49916283], [49918207, 49918253], [49920271, 49920336], [49920415, 49920523], [49920625, 49921251]]	[[49894140, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288], [49912452, 49912540], [49913009, 49913132], [49916224, 49916283], [49918207, 49918253], [49920271, 49920336], [49920415, 49920523], [49920625, 49920767]]
ENST00000600895	[[49891475, 49891584], [49897732, 49898153]]	None
ENST00000598730	[[49891539, 49891584], [49894045, 49894183], [49896602, 49896676], [49897732, 49897837], [49898362, 49898549], [49899025, 49899046]]	[[49897770, 49897837], [49898362, 49898549], [49899025, 49899046]]
ENST00000596771	[[49891539, 49891584], [49892817, 49893595], [49894045, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49903062]]	None
ENST00000596862	[[49891543, 49891584], [49894045, 49894183], [49897732, 49898123]]	None
ENST00000597993	[[49891553, 49891584], [49894045, 49894183], [49894942, 49895038], [49896602, 49896676], [49897732, 49897837], [49898362, 49898391]]	[[49894140, 49894183], [49894942, 49895028]]
ENST00000593725	[[49891556, 49891584], [49894045, 49894183], [49896602, 49897000]]	None
ENST00000594905	[[49891557, 49891584], [49894045, 49894183], [49894937, 49895038], [49897732, 49897837], [49898362, 49898522]]	[[49897770, 49897837], [49898362, 49898522]]
ENST00000595828	[[49891573, 49891584], [49894045, 49894183], [49896602, 49896657], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901378]]	[[49896656, 49896657], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901378]]
ENST00000594043	[[49891636, 49891738], [49894045, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901350]]	[[49894140, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901350]]
ENST00000600570	[[49897799, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288], [49912452, 49912540], [49913015, 49913132], [49916224, 49916283], [49918207, 49918253], [49920271, 49920336], [49920415, 49920523], [49920625, 49921246]]	[[49897799, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288], [49912452, 49912540], [49913015, 49913132], [49916224, 49916283], [49918207, 49918253], [49920271, 49920336], [49920415, 49920523], [49920625, 49920767]]
ENST00000596130	[[49898948, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288]]	None
ENST00000593631	[[49901188, 49901400], [49902281, 49902727]]	None
ENST00000593362	[[49910893, 49910928], [49912223, 49912288], [49912452, 49912540], [49913009, 49913132], [49916224, 49916283], [49918207, 49918876]]	None
ENST00000596419	[[49911529, 49911554], [49912223, 49912540], [49913009, 49913119]]	None
NM_144688	[[49891474, 49891584], [49894045, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288], [49912452, 49912540], [49913009, 49913132], [49916224, 49916283], [49918207, 49918253], [49920271, 49920336], [49920415, 49920523], [49920625, 49921256]]	[[49894140, 49894183], [49897732, 49897837], [49898362, 49898549], [49899025, 49899090], [49900907, 49900974], [49901238, 49901400], [49902281, 49902399], [49902713, 49902764], [49910142, 49910220], [49910496, 49910553], [49910868, 49910928], [49912223, 49912288], [49912452, 49912540], [49913009, 49913132], [49916224, 49916283], [49918207, 49918253], [49920271, 49920336], [49920415, 49920523], [49920625, 49920767]]

Promoter

Chrom	Start	End	Description
chr19	49891500	49891520	CAGE_peak_2_at_CCDC155_5end
chr19	49891522	49891530	CAGE_peak_3_at_CCDC155_5end
chr19	49891533	49891566	CAGE_peak_1_at_CCDC155_5end
chr19	49897410	49897421	CAGE_peak_4_at_CCDC155_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049332	49332852	49337866	2.36	[{'connected_gene': 'CD37', 'score': 555.5}, {'connected_gene': 'DKKL1', 'score': 39.86}, {'connected_gene': 'CCDC155', 'score': 29.87}, {'connected_gene': 'ALDH16A1', 'score': 2.1}, {'connected_gene': 'BCL2L12', 'score': 1.98}, {'connected_gene': 'FLT3LG', 'score': 1.79}, {'connected_gene': 'IRF3', 'score': 1.72}, {'connected_gene': 'SNRNP70', 'score': 1.24}, {'connected_gene': 'ENSG00000197813', 'score': 0.77}]
chr19	GH19I049142	49142251	49143383	1.52	[{'connected_gene': 'PPFIA3', 'score': 22.52}, {'connected_gene': 'C19orf73', 'score': 13.22}, {'connected_gene': 'LIN7B', 'score': 13.19}, {'connected_gene': 'SNRNP70', 'score': 12.04}, {'connected_gene': 'NTF4', 'score': 11.55}, {'connected_gene': 'CGB7', 'score': 11.54}, {'connected_gene': 'KCNA7', 'score': 11.5}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'CD37', 'score': 10.5}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.63}, {'connected_gene': 'TULP2', 'score': 9.6}, {'connected_gene': 'NUCB1-AS1', 'score': 4.48}, {'connected_gene': 'HRC', 'score': 0.39}]
chr19	GH19I049210	49210004	49211721	1.05	[{'connected_gene': 'SNRNP70', 'score': 11.81}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.5}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'CD37', 'score': 11.2}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'LOC101928295', 'score': 4.41}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19	GH19I049207	49207630	49209033	1.34	[{'connected_gene': 'SNRNP70', 'score': 24.19}, {'connected_gene': 'PPP1R15A', 'score': 14.86}, {'connected_gene': 'PRR12', 'score': 13.31}, {'connected_gene': 'CD37', 'score': 12.73}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.51}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.78}, {'connected_gene': 'RASIP1', 'score': 9.7}, {'connected_gene': 'IZUMO1', 'score': 3.62}, {'connected_gene': 'FCGRT', 'score': 2.38}, {'connected_gene': 'RPS11', 'score': 1.47}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19	GH19I049135	49135719	49137277	1.16	[{'connected_gene': 'LIN7B', 'score': 13.22}, {'connected_gene': 'SNRNP70', 'score': 12.05}, {'connected_gene': 'PPFIA3', 'score': 11.99}, {'connected_gene': 'NTF4', 'score': 11.56}, {'connected_gene': 'CGB7', 'score': 11.55}, {'connected_gene': 'KCNA7', 'score': 11.51}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.57}, {'connected_gene': 'TULP2', 'score': 9.25}, {'connected_gene': 'HRC', 'score': 0.37}]
chr19	GH19I049413	49413023	49414162	0.38	[{'connected_gene': 'LOC400710', 'score': 4.87}, {'connected_gene': 'LOC105372433', 'score': 0.77}, {'connected_gene': 'GC19P049399', 'score': 0.37}, {'connected_gene': 'PIR32242', 'score': 0.37}, {'connected_gene': 'CCDC155', 'score': 0.31}]
chr19	GH19I049359	49359931	49364731	2.21	[{'connected_gene': 'DKKL1', 'score': 591.95}, {'connected_gene': 'TEAD2', 'score': 550.77}, {'connected_gene': 'CCDC155', 'score': 32.62}, {'connected_gene': 'LOC400710', 'score': 4.51}]
chr19	GH19I049301	49301197	49301680	1.02	[{'connected_gene': 'DKKL1', 'score': 24.76}, {'connected_gene': 'PTOV1-AS2', 'score': 19.15}, {'connected_gene': 'SNORD35A', 'score': 17.98}, {'connected_gene': 'SNORD35B', 'score': 17.64}, {'connected_gene': 'IRF3', 'score': 17.4}, {'connected_gene': 'ALDH16A1', 'score': 16.08}, {'connected_gene': 'SNRNP70', 'score': 15.05}, {'connected_gene': 'CCDC155', 'score': 13.79}, {'connected_gene': 'PIH1D1', 'score': 13.59}, {'connected_gene': 'RPS11', 'score': 13.51}, {'connected_gene': 'GRWD1', 'score': 13.03}, {'connected_gene': 'RPL13A', 'score': 12.91}, {'connected_gene': 'PNKP', 'score': 12.9}, {'connected_gene': 'RPL18', 'score': 12.86}, {'connected_gene': 'KDELR1', 'score': 12.73}, {'connected_gene': 'PRR12', 'score': 11.77}, {'connected_gene': 'NUP62', 'score': 11.27}, {'connected_gene': 'MIR4324', 'score': 0.44}, {'connected_gene': 'PIR36926', 'score': 0.44}, {'connected_gene': 'SLC6A16', 'score': 0.29}]
chr19	GH19I049271	49271072	49273061	0.69	[{'connected_gene': 'DKKL1', 'score': 7.92}, {'connected_gene': 'LOC101928295', 'score': 7.5}, {'connected_gene': 'CCDC155', 'score': 6.23}, {'connected_gene': 'TRPM4', 'score': 4.96}, {'connected_gene': 'SUMO1P4', 'score': 0.77}, {'connected_gene': 'SLC6A21P', 'score': 0.37}]
chr19	GH19I049344	49344624	49344773	0.31	[{'connected_gene': 'CCDC155', 'score': 17.2}, {'connected_gene': 'ENSG00000197813', 'score': 0.77}, {'connected_gene': 'ENSG00000268157', 'score': 0.39}, {'connected_gene': 'TEAD2', 'score': 0.37}]
chr19	GH19I049393	49393058	49393420	0.23	[{'connected_gene': 'CCDC155', 'score': 30.89}, {'connected_gene': 'BCL2L12', 'score': 1.4}, {'connected_gene': 'GC19P049399', 'score': 0.77}, {'connected_gene': 'PIR32242', 'score': 0.77}]
chr19	GH19I049390	49390503	49392153	1.15	[{'connected_gene': 'CCDC155', 'score': 35.48}, {'connected_gene': 'DKKL1', 'score': 34.27}, {'connected_gene': 'BCL2L12', 'score': 13.91}, {'connected_gene': 'POLD1', 'score': 12.28}, {'connected_gene': 'NUP62', 'score': 11.33}, {'connected_gene': 'MED25', 'score': 10.1}, {'connected_gene': 'PIR32242', 'score': 0.44}, {'connected_gene': 'GC19P049399', 'score': 0.44}]
chr19	GH19I049403	49403390	49404608	1.04	[{'connected_gene': 'CCDC155', 'score': 41.21}, {'connected_gene': 'DKKL1', 'score': 21.95}, {'connected_gene': 'GC19P049399', 'score': 0.44}, {'connected_gene': 'PIR32242', 'score': 0.44}, {'connected_gene': 'LOC105372433', 'score': 0.39}]
chr19	GH19I049325	49325853	49332223	1.55	[{'connected_gene': 'CCDC155', 'score': 31.21}, {'connected_gene': 'PTOV1-AS2', 'score': 10.88}, {'connected_gene': 'CYTH2', 'score': 10.34}, {'connected_gene': 'PRR12', 'score': 9.99}, {'connected_gene': 'SNRNP70', 'score': 9.95}, {'connected_gene': 'TMEM143', 'score': 4.57}, {'connected_gene': 'PTH2', 'score': 1.93}, {'connected_gene': 'SLC6A16', 'score': 0.77}, {'connected_gene': 'ENSG00000197813', 'score': 0.39}, {'connected_gene': 'MIR4324', 'score': 0.34}]
chr19	GH19I049387	49387821	49388530	1.74	[{'connected_gene': 'CCDC155', 'score': 585.78}, {'connected_gene': 'LOC101928295', 'score': 550.77}, {'connected_gene': 'DKKL1', 'score': 35.74}]
chr19	GH19I049409	49408224	49408373	0.64	[{'connected_gene': 'LOC105372433', 'score': 0.44}, {'connected_gene': 'GC19P049399', 'score': 0.39}, {'connected_gene': 'PIR32242', 'score': 0.39}, {'connected_gene': 'CCDC155', 'score': 0.34}]
chr19	GH19I049408	49408871	49410427	0.98	[{'connected_gene': 'LOC105372433', 'score': 0.44}, {'connected_gene': 'GC19P049399', 'score': 0.39}, {'connected_gene': 'PIR32242', 'score': 0.39}, {'connected_gene': 'CCDC155', 'score': 0.34}]
chr19	GH19I049339	49338504	49341801	1.68	[{'connected_gene': 'ENSG00000197813', 'score': 550.77}, {'connected_gene': 'CCDC155', 'score': 18.44}, {'connected_gene': 'GRWD1', 'score': 14.62}, {'connected_gene': 'AKT1S1', 'score': 11.25}, {'connected_gene': 'PRR12', 'score': 11.15}, {'connected_gene': 'NUP62', 'score': 10.41}, {'connected_gene': 'CYTH2', 'score': 9.74}, {'connected_gene': 'CD37', 'score': 0.77}, {'connected_gene': 'TEAD2', 'score': 0.34}]