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
ENST00000258214	[[57546089, 57546782], [57549252, 57549356], [57550204, 57550375], [57551979, 57552189], [57552536, 57552653], [57554979, 57555088], [57559812, 57560039], [57562504, 57563236], [57570411, 57570511]]	[[57546652, 57546782], [57549252, 57549356], [57550204, 57550375], [57551979, 57552189], [57552536, 57552653], [57554979, 57555088], [57559812, 57560039], [57562504, 57563089]]
ENST00000569068	[[57546298, 57546782], [57549252, 57549356], [57550204, 57550494]]	None
NM_033212	[[57546089, 57546782], [57549252, 57549356], [57550204, 57550375], [57551979, 57552189], [57552536, 57552653], [57554979, 57555088], [57559812, 57560039], [57562504, 57563236], [57570411, 57570477]]	[[57546652, 57546782], [57549252, 57549356], [57550204, 57550375], [57551979, 57552189], [57552536, 57552653], [57554979, 57555088], [57559812, 57560039], [57562504, 57563089]]

Promoter

Chrom	Start	End	Description
chr16	57570450	57570504	CAGE_peak_1_at_CCDC102A_5end
chr16	57570901	57570911	CAGE_peak_7_at_CCDC102A_5end
chr16	57570917	57570933	CAGE_peak_5_at_CCDC102A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I057531	57531743	57539884	2.64	[{'connected_gene': 'CCDC102A', 'score': 565.2}, {'connected_gene': 'PIR39147', 'score': 550.77}, {'connected_gene': 'DOK4', 'score': 6.91}, {'connected_gene': 'ADGRG5', 'score': 2.47}]
chr16	GH16I057546	57546149	57546296	0.38	[{'connected_gene': 'CCDC102A', 'score': 0.44}, {'connected_gene': 'ADGRG5', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16	GH16I057541	57541809	57541958	0.4	[{'connected_gene': 'CCDC102A', 'score': 8.47}, {'connected_gene': 'ADGRG5', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16	GH16I057576	57576469	57576801	1.13	[{'connected_gene': 'ADGRG1', 'score': 12.21}, {'connected_gene': 'CCDC102A', 'score': 6.26}, {'connected_gene': 'GC16P057566', 'score': 0.39}, {'connected_gene': 'GC16P057594', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.29}, {'connected_gene': 'ADGRG5', 'score': 0.25}]
chr16	GH16I057626	57626369	57631200	1.96	[{'connected_gene': 'ADGRG1', 'score': 550.37}, {'connected_gene': 'RSPRY1', 'score': 140.37}, {'connected_gene': 'LOC101927556', 'score': 77.36}, {'connected_gene': 'POLR2C', 'score': 48.14}, {'connected_gene': 'NUP93', 'score': 45.78}, {'connected_gene': 'LOC105371286', 'score': 30.85}, {'connected_gene': 'SETD6', 'score': 22.65}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'CCDC102A', 'score': 10.29}, {'connected_gene': 'ARL2BP', 'score': 10.09}, {'connected_gene': 'CFAP20', 'score': 9.94}, {'connected_gene': 'CNGB1', 'score': 9.54}, {'connected_gene': 'NDRG4', 'score': 5.27}, {'connected_gene': 'CCDC113', 'score': 4.88}, {'connected_gene': 'ADGRG5', 'score': 4.64}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'ENSG00000261633', 'score': 0.77}]
chr16	GH16I057590	57589549	57589698	0.77	[{'connected_gene': 'ADGRG1', 'score': 12.82}, {'connected_gene': 'ADGRG3', 'score': 12.5}, {'connected_gene': 'CCDC102A', 'score': 4.96}, {'connected_gene': 'GC16P057594', 'score': 0.77}, {'connected_gene': 'LOC105371291', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.34}, {'connected_gene': 'ADGRG5', 'score': 0.21}]
chr16	GH16I057583	57583460	57584776	0.2	[{'connected_gene': 'ADGRG1', 'score': 12.8}, {'connected_gene': 'ADGRG3', 'score': 12.49}, {'connected_gene': 'DRC7', 'score': 12.12}, {'connected_gene': 'KATNB1', 'score': 11.63}, {'connected_gene': 'CNGB1', 'score': 9.87}, {'connected_gene': 'CCDC102A', 'score': 5.3}, {'connected_gene': 'FAM192A', 'score': 4.68}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.34}, {'connected_gene': 'ADGRG5', 'score': 0.23}]
chr16	GH16I057581	57581592	57582616	0.43	[{'connected_gene': 'ADGRG1', 'score': 12.4}, {'connected_gene': 'ADGRG3', 'score': 12.25}, {'connected_gene': 'DRC7', 'score': 12.12}, {'connected_gene': 'KATNB1', 'score': 11.63}, {'connected_gene': 'CNGB1', 'score': 9.66}, {'connected_gene': 'CCDC102A', 'score': 5.42}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.31}, {'connected_gene': 'ADGRG5', 'score': 0.23}]
chr16	GH16I057580	57580303	57581159	0.2	[{'connected_gene': 'ADGRG1', 'score': 12.49}, {'connected_gene': 'ADGRG3', 'score': 12.34}, {'connected_gene': 'ADGRG5', 'score': 5.77}, {'connected_gene': 'CCDC102A', 'score': 4.92}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.39}, {'connected_gene': 'LOC105371291', 'score': 0.31}]
chr16	GH16I057577	57577372	57579906	0.63	[{'connected_gene': 'ADGRG1', 'score': 12.47}, {'connected_gene': 'ADGRG3', 'score': 12.34}, {'connected_gene': 'ADGRG5', 'score': 6.32}, {'connected_gene': 'CCDC102A', 'score': 6.06}, {'connected_gene': 'GC16P057566', 'score': 0.39}, {'connected_gene': 'GC16P057594', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.31}]
chr16	GH16I057585	57585075	57586337	0.2	[{'connected_gene': 'ADGRG1', 'score': 12.82}, {'connected_gene': 'ADGRG3', 'score': 12.49}, {'connected_gene': 'ADGRG5', 'score': 6.12}, {'connected_gene': 'CCDC102A', 'score': 5.02}, {'connected_gene': 'GC16P057594', 'score': 0.44}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.34}]
chr16	GH16I057589	57589998	57594114	1.35	[{'connected_gene': 'RSPRY1', 'score': 42.96}, {'connected_gene': 'LOC101927556', 'score': 22.54}, {'connected_gene': 'POLR2C', 'score': 20.66}, {'connected_gene': 'ADGRG3', 'score': 12.5}, {'connected_gene': 'CCDC102A', 'score': 7.37}, {'connected_gene': 'GC16P057594', 'score': 0.77}, {'connected_gene': 'LOC105371291', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.31}, {'connected_gene': 'ADGRG5', 'score': 0.21}]
chr16	GH16I057688	57688622	57690732	1.42	[{'connected_gene': 'DRC7', 'score': 34.86}, {'connected_gene': 'CNOT1', 'score': 15.7}, {'connected_gene': 'ENSG00000260467', 'score': 12.07}, {'connected_gene': 'CCDC102A', 'score': 11.03}, {'connected_gene': 'RSPRY1', 'score': 10.3}, {'connected_gene': 'ADGRG3', 'score': 7.92}]
chr16	GH16I057477	57477669	57481876	1.93	[{'connected_gene': 'DOK4', 'score': 560.69}, {'connected_gene': 'COQ9', 'score': 14.12}, {'connected_gene': 'CIAPIN1', 'score': 13.58}, {'connected_gene': 'CCDC102A', 'score': 6.63}, {'connected_gene': 'PIR51542', 'score': 0.39}]
chr16	GH16I057506	57506809	57511126	0.8	[{'connected_gene': 'DOK4', 'score': 19.35}, {'connected_gene': 'POLR2C', 'score': 11.75}, {'connected_gene': 'CIAPIN1', 'score': 11.32}, {'connected_gene': 'COQ9', 'score': 11.32}, {'connected_gene': 'ADGRG1', 'score': 10.25}, {'connected_gene': 'CCDC102A', 'score': 7.22}, {'connected_gene': 'PIR46688', 'score': 0.39}, {'connected_gene': 'ADGRG5', 'score': 0.34}]
chr16	GH16I057512	57512857	57515641	0.72	[{'connected_gene': 'DOK4', 'score': 7.33}, {'connected_gene': 'ADGRG5', 'score': 5.23}, {'connected_gene': 'PIR46688', 'score': 0.37}, {'connected_gene': 'CCDC102A', 'score': 0.34}]
chr16	GH16I057519	57519849	57520018	0.86	[{'connected_gene': 'DOK4', 'score': 7.27}, {'connected_gene': 'ADGRG5', 'score': 0.44}, {'connected_gene': 'CCDC102A', 'score': 0.37}, {'connected_gene': 'PIR46688', 'score': 0.34}]
chr16	GH16I057462	57462009	57463777	2.06	[{'connected_gene': 'POLR2C', 'score': 550.77}, {'connected_gene': 'ENSG00000260345', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 17.11}, {'connected_gene': 'CIAPIN1', 'score': 16.63}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'NLRC5', 'score': 10.55}, {'connected_gene': 'DOK4', 'score': 7.62}, {'connected_gene': 'CCDC102A', 'score': 6.3}, {'connected_gene': 'PIR63065', 'score': 0.77}]
chr16	GH16I058020	58020257	58021373	1.16	[{'connected_gene': 'CNOT1', 'score': 58.47}, {'connected_gene': 'RSPRY1', 'score': 43.75}, {'connected_gene': 'POLR2C', 'score': 29.21}, {'connected_gene': 'CSNK2A2', 'score': 21.71}, {'connected_gene': 'TEPP', 'score': 17.18}, {'connected_gene': 'CCDC102A', 'score': 14.02}, {'connected_gene': 'CNGB1', 'score': 10.94}, {'connected_gene': 'MMP15', 'score': 0.77}, {'connected_gene': 'ZNF319', 'score': 0.34}, {'connected_gene': 'USB1', 'score': 0.34}]
chr16	GH16I057528	57527604	57531659	1.48	[{'connected_gene': 'ADGRG5', 'score': 556.82}, {'connected_gene': 'CCDC102A', 'score': 8.65}, {'connected_gene': 'DOK4', 'score': 7.21}, {'connected_gene': 'NUP93', 'score': 4.74}, {'connected_gene': 'ZNF319', 'score': 2.26}, {'connected_gene': 'PIR39147', 'score': 0.44}]
chr16	GH16I057542	57541982	57545933	1.81	[{'connected_gene': 'ADGRG5', 'score': 560.22}, {'connected_gene': 'CCDC102A', 'score': 14.68}, {'connected_gene': 'DOK4', 'score': 6.58}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16	GH16I057527	57527249	57527418	0.31	[{'connected_gene': 'ADGRG5', 'score': 550.77}, {'connected_gene': 'CCDC102A', 'score': 0.44}, {'connected_gene': 'PIR46688', 'score': 0.31}]
chr16	GH16I057520	57520089	57520198	0.83	[{'connected_gene': 'ADGRG5', 'score': 0.44}, {'connected_gene': 'CCDC102A', 'score': 0.37}, {'connected_gene': 'PIR46688', 'score': 0.34}]
chr16	GH16I058391	58391817	58393601	2.11	[{'connected_gene': 'ENSG00000276131', 'score': 550.77}, {'connected_gene': 'GINS3', 'score': 550.15}, {'connected_gene': 'CNOT1', 'score': 40.01}, {'connected_gene': 'SETD6', 'score': 10.37}, {'connected_gene': 'CCDC102A', 'score': 10.16}, {'connected_gene': 'POLR2C', 'score': 9.68}, {'connected_gene': 'LINC02137', 'score': 9.3}, {'connected_gene': 'RNU6-1110P', 'score': 0.44}]