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
ENST00000438666	[[36875774, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909969], [36920361, 36920420]]	[[36878501, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909967]]
ENST00000451493	[[36875776, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909969], [36920718, 36920934]]	[[36878501, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909967]]
ENST00000355182	[[36875776, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909969], [36944225, 36944317]]	[[36878501, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909967]]
ENST00000494062	[[36877738, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909969], [36910423, 36910495], [36920450, 36920630]]	[[36878501, 36878769], [36886281, 36886372], [36886455, 36886614], [36888363, 36888558], [36900711, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909967]]
ENST00000491805	[[36878458, 36878769], [36886281, 36886372], [36886455, 36886721]]	None
ENST00000460126	[[36878587, 36878769], [36882555, 36882581], [36886281, 36886372], [36886455, 36886548]]	None
ENST00000475603	[[36878593, 36878769], [36886281, 36886372], [36886455, 36886614], [36888358, 36888558], [36900711, 36900760]]	None
ENST00000482146	[[36886278, 36886372], [36886455, 36886614], [36888104, 36888219], [36888363, 36888578]]	None
ENST00000495510	[[36900059, 36900835], [36903498, 36903654], [36905535, 36905733], [36909157, 36909969], [36920361, 36920420]]	None
ENST00000494703	[[36909369, 36909969], [36920718, 36920914]]	None
ENST00000476377	[[36909717, 36909969], [36919661, 36919771]]	None

Promoter

Chrom	Start	End	Description
chr13	36888406	36888425	CAGE_peak_9_at_SPG20_5end
chr13	36919676	36919723	CAGE_peak_5_at_SPG20_5end
chr13	36920450	36920574	CAGE_peak_1_at_SPG20_5end
chr13	36920576	36920595	CAGE_peak_6_at_SPG20_5end
chr13	36920615	36920659	CAGE_peak_4_at_SPG20_5end
chr13	36920785	36920860	CAGE_peak_2_at_SPG20_5end
chr13	36920872	36920920	CAGE_peak_3_at_SPG20_5end
chr13	36944250	36944280	CAGE_peak_8_at_SPG20_5end
chr13	36944282	36944300	CAGE_peak_7_at_SPG20_5end
chr13	36944307	36944322	CAGE_peak_12_at_SPG20_5end
chr13	36944346	36944354	CAGE_peak_21_at_SPG20_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I036154	36154134	36155899	1.06	[{'connected_gene': 'DCLK1', 'score': 16.29}, {'connected_gene': 'CCDC169', 'score': 11.16}, {'connected_gene': 'SOHLH2', 'score': 10.44}, {'connected_gene': 'SPART', 'score': 3.07}]
chr13	GH13I036420	36420484	36420613	0.69	[{'connected_gene': 'CCNA1', 'score': 0.39}, {'connected_gene': 'SPART', 'score': 0.23}]
chr13	GH13I036362	36362930	36364319	0.49	[{'connected_gene': 'CCDC169', 'score': 11.45}, {'connected_gene': 'RFXAP', 'score': 10.19}, {'connected_gene': 'SPART-AS1', 'score': 6.86}, {'connected_gene': 'SOHLH2', 'score': 6.51}, {'connected_gene': 'SPART', 'score': 0.44}]
chr13	GH13I036352	36352741	36354955	0.43	[{'connected_gene': 'CCDC169', 'score': 12.57}, {'connected_gene': 'SPART', 'score': 8.41}, {'connected_gene': 'SOHLH2', 'score': 6.57}, {'connected_gene': 'SPART-AS1', 'score': 0.44}]
chr13	GH13I036373	36373911	36375536	0.54	[{'connected_gene': 'CCDC169', 'score': 8.04}, {'connected_gene': 'SPART-AS1', 'score': 7.83}, {'connected_gene': 'CCNA1', 'score': 4.55}, {'connected_gene': 'SPART', 'score': 0.77}]
chr13	GH13I036361	36361924	36362850	0.63	[{'connected_gene': 'RFXAP', 'score': 10.19}, {'connected_gene': 'SPART', 'score': 0.44}, {'connected_gene': 'SPART-AS1', 'score': 0.37}]
chr13	GH13I036363	36361044	36361193	0.2	[{'connected_gene': 'RFXAP', 'score': 10.19}, {'connected_gene': 'SPART', 'score': 0.44}, {'connected_gene': 'SPART-AS1', 'score': 0.39}]
chr13	GH13I036364	36364356	36366169	0.2	[{'connected_gene': 'SOHLH2', 'score': 29.79}, {'connected_gene': 'CCDC169', 'score': 12.09}, {'connected_gene': 'RFXAP', 'score': 10.19}, {'connected_gene': 'SPART', 'score': 8.16}, {'connected_gene': 'SPART-AS1', 'score': 0.37}]
chr13	GH13I036322	36322896	36326266	0.38	[{'connected_gene': 'SOHLH2', 'score': 37.23}, {'connected_gene': 'CCDC169', 'score': 11.75}, {'connected_gene': 'SPART-AS1', 'score': 0.34}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.31}, {'connected_gene': 'SPART', 'score': 0.25}]
chr13	GH13I036332	36332604	36333799	0.72	[{'connected_gene': 'SOHLH2', 'score': 35.72}, {'connected_gene': 'SPART-AS1', 'score': 0.39}, {'connected_gene': 'SPART', 'score': 0.28}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.28}, {'connected_gene': 'CCDC169', 'score': 0.28}]
chr13	GH13I036356	36356970	36358700	0.4	[{'connected_gene': 'SOHLH2', 'score': 12.85}, {'connected_gene': 'SPART-AS1', 'score': 0.39}, {'connected_gene': 'SPART', 'score': 0.39}]
chr13	GH13I036349	36349113	36350638	0.2	[{'connected_gene': 'SOHLH2', 'score': 35.52}, {'connected_gene': 'SPART-AS1', 'score': 0.77}, {'connected_gene': 'SPART', 'score': 0.34}]
chr13	GH13I036370	36370147	36370353	1.01	[{'connected_gene': 'SPART', 'score': 550.77}, {'connected_gene': 'CCNA1', 'score': 0.21}]
chr13	GH13I036369	36369018	36370124	0.72	[{'connected_gene': 'SPART', 'score': 558.19}, {'connected_gene': 'CCDC169', 'score': 12.08}, {'connected_gene': 'SOHLH2', 'score': 6.49}, {'connected_gene': 'SPART-AS1', 'score': 0.34}]
chr13	GH13I036343	36343518	36347610	2.23	[{'connected_gene': 'SPART', 'score': 570.72}, {'connected_gene': 'SPART-AS1', 'score': 550.77}, {'connected_gene': 'SOHLH2', 'score': 33.56}, {'connected_gene': 'CCDC169', 'score': 13.3}, {'connected_gene': 'RFXAP', 'score': 9.7}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.25}]
chr13	GH13I036427	36427725	36428773	0.65	[{'connected_gene': 'SPART-AS1', 'score': 7.02}, {'connected_gene': 'CCDC169', 'score': 5.4}, {'connected_gene': 'CCNA1', 'score': 0.77}, {'connected_gene': 'SPART', 'score': 0.22}]
chr13	GH13I036347	36347801	36348200	0.63	[{'connected_gene': 'SPART-AS1', 'score': 550.77}, {'connected_gene': 'RFXAP', 'score': 9.92}, {'connected_gene': 'SPART', 'score': 0.34}]
chr13	GH13I036416	36416900	36418935	1.21	[{'connected_gene': 'SPART-AS1', 'score': 6.72}, {'connected_gene': 'SPART', 'score': 5.48}, {'connected_gene': 'CCNA1', 'score': 0.39}]
chr13	GH13I036342	36342001	36342200	0.49	[{'connected_gene': 'SPART-AS1', 'score': 0.77}, {'connected_gene': 'SPART', 'score': 0.31}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.26}, {'connected_gene': 'CCDC169', 'score': 0.26}]