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
ENST00000424280	[[186263861, 186264744], [186268917, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282161], [186287895, 186288332]]	[[186268938, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282118]]
ENST00000338733	[[186264127, 186264744], [186268917, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282161], [186285055, 186285141]]	[[186268938, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282118]]
ENST00000446782	[[186264129, 186264744], [186268917, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186287895, 186288107]]	[[186268938, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186287895, 186287943]]
ENST00000479590	[[186271131, 186271392], [186272042, 186272264]]	None
ENST00000413695	[[186274378, 186274564], [186276205, 186276361], [186281782, 186282161], [186287895, 186288332]]	[[186274378, 186274564], [186276205, 186276361], [186281782, 186282118]]
ENST00000430560	[[186276205, 186276313], [186281782, 186282134]]	[[186276205, 186276313], [186281782, 186282118]]
NM_018138	[[186263855, 186264744], [186268917, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282161], [186285055, 186285143]]	[[186268938, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282118]]
NM_001134415	[[186263855, 186264744], [186268917, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282161], [186287895, 186288332]]	[[186268938, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186281782, 186282118]]
NM_001286749	[[186263855, 186264744], [186268917, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186287895, 186288332]]	[[186268938, 186269068], [186272042, 186272540], [186272686, 186272873], [186274197, 186274564], [186276205, 186276361], [186287895, 186287943]]

Promoter

Chrom	Start	End	Description
chr3	186285077	186285144	CAGE_peak_1_at_TBCCD1_5end
chr3	186288097	186288113	CAGE_peak_2_at_TBCCD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I187129	187129391	187131769	1.17	[{'connected_gene': 'SNORA81', 'score': 25.24}, {'connected_gene': 'ENSG00000200418', 'score': 22.43}, {'connected_gene': 'SNORA63', 'score': 21.18}, {'connected_gene': 'SNORA4', 'score': 16.55}, {'connected_gene': 'TBCCD1', 'score': 11.61}, {'connected_gene': 'RPL39L', 'score': 11.37}, {'connected_gene': 'EIF4A2', 'score': 10.97}, {'connected_gene': 'ADIPOQ', 'score': 10.33}, {'connected_gene': 'RFC4', 'score': 9.92}, {'connected_gene': 'RTP4', 'score': 1.22}, {'connected_gene': 'RPL39P19', 'score': 0.44}]
chr3	GH03I187019	187019216	187030200	2.21	[{'connected_gene': 'ST6GAL1', 'score': 572.67}, {'connected_gene': 'ADIPOQ', 'score': 11.12}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.8}, {'connected_gene': 'RTP4', 'score': 2.07}, {'connected_gene': 'EIF4A2', 'score': 1.98}, {'connected_gene': 'TBCCD1', 'score': 1.66}, {'connected_gene': 'RTP1', 'score': 1.59}, {'connected_gene': 'GC03P186996', 'score': 0.31}, {'connected_gene': 'GC03P186997', 'score': 0.31}, {'connected_gene': 'PIR46786', 'score': 0.23}]
chr3	GH03I186930	186929692	186934304	2.25	[{'connected_gene': 'ST6GAL1', 'score': 562.02}, {'connected_gene': 'GC03P186932', 'score': 550.77}, {'connected_gene': 'SNORA4', 'score': 23.95}, {'connected_gene': 'RFC4', 'score': 20.62}, {'connected_gene': 'TRA2B', 'score': 14.5}, {'connected_gene': 'TBCCD1', 'score': 12.8}, {'connected_gene': 'SNORA81', 'score': 11.89}, {'connected_gene': 'ADIPOQ', 'score': 11.32}, {'connected_gene': 'ENSG00000200418', 'score': 10.58}, {'connected_gene': 'SNORA63', 'score': 9.76}, {'connected_gene': 'RPL29P9', 'score': 7.0}]
chr3	GH03I186532	186532183	186535004	1.01	[{'connected_gene': 'ST6GAL1', 'score': 3.8}, {'connected_gene': 'TBCCD1', 'score': 2.41}, {'connected_gene': 'EIF4A2', 'score': 1.28}, {'connected_gene': 'CRYGS', 'score': 0.39}, {'connected_gene': 'LINC02052', 'score': 0.28}]
chr3	GH03I186860	186860602	186861512	0.89	[{'connected_gene': 'TRA2B', 'score': 25.86}, {'connected_gene': 'SNORA4', 'score': 19.47}, {'connected_gene': 'ENSG00000200418', 'score': 18.16}, {'connected_gene': 'TBCCD1', 'score': 16.61}, {'connected_gene': 'SNORA81', 'score': 15.49}, {'connected_gene': 'ST6GAL1', 'score': 11.04}, {'connected_gene': 'RPS20P14', 'score': 10.47}, {'connected_gene': 'RFC4', 'score': 10.28}, {'connected_gene': 'SNORA63', 'score': 9.84}, {'connected_gene': 'ADIPOQ-AS1', 'score': 0.77}]
chr3	GH03I185807	185807223	185808422	1.32	[{'connected_gene': 'TRA2B', 'score': 14.59}, {'connected_gene': 'SNORA4', 'score': 14.43}, {'connected_gene': 'TBCCD1', 'score': 12.77}, {'connected_gene': 'RFC4', 'score': 11.94}, {'connected_gene': 'SNORA81', 'score': 11.8}, {'connected_gene': 'ENSG00000200418', 'score': 10.49}, {'connected_gene': 'SNORA63', 'score': 9.68}, {'connected_gene': 'IGF2BP2', 'score': 6.82}, {'connected_gene': 'MIR548AQ', 'score': 0.28}]
chr3	GH03I185933	185933562	185938717	2.3	[{'connected_gene': 'TRA2B', 'score': 596.45}, {'connected_gene': 'TBCCD1', 'score': 25.0}, {'connected_gene': 'RFC4', 'score': 11.46}, {'connected_gene': 'ENSG00000200418', 'score': 10.26}, {'connected_gene': 'SNORA4', 'score': 9.96}, {'connected_gene': 'NMRAL2P', 'score': 4.51}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3	GH03I186520	186520816	186522185	1.16	[{'connected_gene': 'TRA2B', 'score': 16.36}, {'connected_gene': 'TBCCD1', 'score': 15.05}, {'connected_gene': 'ENSG00000200418', 'score': 14.6}, {'connected_gene': 'RPS20P14', 'score': 12.76}, {'connected_gene': 'SNORA4', 'score': 11.21}, {'connected_gene': 'LINC02052', 'score': 0.31}, {'connected_gene': 'CRYGS', 'score': 0.31}]
chr3	GH03I186782	186782200	186789291	2.32	[{'connected_gene': 'SNORA4', 'score': 574.8}, {'connected_gene': 'ENSG00000200418', 'score': 574.15}, {'connected_gene': 'SNORA81', 'score': 561.19}, {'connected_gene': 'EIF4A2', 'score': 561.14}, {'connected_gene': 'GC03P186836', 'score': 550.77}, {'connected_gene': 'ENSG00000263826', 'score': 550.77}, {'connected_gene': 'GC03P186835', 'score': 550.77}, {'connected_gene': 'GC03P186828', 'score': 550.77}, {'connected_gene': 'GC03P186834', 'score': 550.77}, {'connected_gene': 'GC03P186837', 'score': 550.77}, {'connected_gene': 'GC03P186840', 'score': 550.77}, {'connected_gene': 'GC03P186838', 'score': 550.77}, {'connected_gene': 'GC03P186785', 'score': 550.77}, {'connected_gene': 'SNORA63', 'score': 550.77}, {'connected_gene': 'MIR1248', 'score': 550.77}, {'connected_gene': 'GC03P186832', 'score': 550.77}, {'connected_gene': 'GC03P186839', 'score': 550.77}, {'connected_gene': 'GC03P186831', 'score': 550.77}, {'connected_gene': 'SNORD2', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 72.08}, {'connected_gene': 'RFC4', 'score': 39.04}, {'connected_gene': 'TBCCD1', 'score': 29.72}, {'connected_gene': 'LOC100131635', 'score': 18.96}, {'connected_gene': 'ENSG00000231724', 'score': 11.83}, {'connected_gene': 'RPS20P14', 'score': 10.39}, {'connected_gene': 'BCL6-AS1', 'score': 9.87}]
chr3	GH03I186871	186870697	186872145	0.94	[{'connected_gene': 'SNORA4', 'score': 19.45}, {'connected_gene': 'ENSG00000200418', 'score': 18.13}, {'connected_gene': 'TRA2B', 'score': 17.82}, {'connected_gene': 'TBCCD1', 'score': 16.61}, {'connected_gene': 'SNORA81', 'score': 15.47}, {'connected_gene': 'RFC4', 'score': 10.26}, {'connected_gene': 'SNORA63', 'score': 9.83}, {'connected_gene': 'ADIPOQ-AS1', 'score': 0.37}, {'connected_gene': 'RPS20P14', 'score': 0.31}]
chr3	GH03I186208	186208917	186211685	1.02	[{'connected_gene': 'SNORA4', 'score': 19.3}, {'connected_gene': 'ENSG00000200418', 'score': 17.99}, {'connected_gene': 'TRA2B', 'score': 17.86}, {'connected_gene': 'TBCCD1', 'score': 16.6}, {'connected_gene': 'SNORA81', 'score': 15.32}, {'connected_gene': 'ETV5', 'score': 11.13}, {'connected_gene': 'ETV5-AS1', 'score': 10.23}, {'connected_gene': 'RFC4', 'score': 10.08}, {'connected_gene': 'SNORA63', 'score': 9.68}, {'connected_gene': 'GC03P186167', 'score': 0.26}, {'connected_gene': 'DGKG', 'score': 0.1}]
chr3	GH03I186938	186938507	186939295	1.12	[{'connected_gene': 'SNORA4', 'score': 19.38}, {'connected_gene': 'ENSG00000200418', 'score': 18.07}, {'connected_gene': 'TBCCD1', 'score': 16.6}, {'connected_gene': 'SNORA81', 'score': 15.4}, {'connected_gene': 'ADIPOQ', 'score': 10.44}, {'connected_gene': 'RFC4', 'score': 10.16}, {'connected_gene': 'SNORA63', 'score': 9.76}, {'connected_gene': 'RPL29P9', 'score': 6.25}, {'connected_gene': 'ST6GAL1', 'score': 0.44}, {'connected_gene': 'GC03P186932', 'score': 0.44}, {'connected_gene': 'LOC101929079', 'score': 0.23}]
chr3	GH03I187464	187464679	187467231	0.54	[{'connected_gene': 'SNORA4', 'score': 19.3}, {'connected_gene': 'ENSG00000200418', 'score': 17.99}, {'connected_gene': 'TBCCD1', 'score': 16.58}, {'connected_gene': 'SNORA81', 'score': 15.32}, {'connected_gene': 'RFC4', 'score': 10.08}, {'connected_gene': 'SNORA63', 'score': 9.68}, {'connected_gene': 'RTP4', 'score': 6.55}, {'connected_gene': 'LINC02041', 'score': 0.37}, {'connected_gene': 'LOC105374262', 'score': 0.2}]
chr3	GH03I187285	187285818	187287521	1.39	[{'connected_gene': 'SNORA4', 'score': 19.32}, {'connected_gene': 'ENSG00000200418', 'score': 17.99}, {'connected_gene': 'TBCCD1', 'score': 16.58}, {'connected_gene': 'SNORA81', 'score': 15.34}, {'connected_gene': 'MASP1', 'score': 11.7}, {'connected_gene': 'RFC4', 'score': 10.09}, {'connected_gene': 'SNORA63', 'score': 9.69}, {'connected_gene': 'LOC101929130', 'score': 0.77}, {'connected_gene': 'LOC105374260', 'score': 0.21}]
chr3	GH03I187220	187220273	187220422	0.59	[{'connected_gene': 'SNORA4', 'score': 14.63}, {'connected_gene': 'ENSG00000200418', 'score': 14.47}, {'connected_gene': 'TBCCD1', 'score': 10.8}, {'connected_gene': 'MASP1', 'score': 10.7}, {'connected_gene': 'SNORA81', 'score': 10.47}, {'connected_gene': 'RTP4', 'score': 9.89}, {'connected_gene': 'LOC105374260', 'score': 0.77}, {'connected_gene': 'LOC101929106', 'score': 0.39}]
chr3	GH03I186789	186789992	186791261	0.89	[{'connected_gene': 'RFC4', 'score': 19.11}, {'connected_gene': 'TRA2B', 'score': 16.16}, {'connected_gene': 'TBCCD1', 'score': 12.5}, {'connected_gene': 'ENSG00000200418', 'score': 11.49}, {'connected_gene': 'LOC100131635', 'score': 10.44}, {'connected_gene': 'RPS20P14', 'score': 10.4}, {'connected_gene': 'BCL6-AS1', 'score': 9.87}, {'connected_gene': 'SNORA4', 'score': 0.77}, {'connected_gene': 'GC03P186839', 'score': 0.77}]
chr3	GH03I186805	186805354	186807650	2.05	[{'connected_gene': 'RFC4', 'score': 558.36}, {'connected_gene': 'ENSG00000231724', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 14.69}, {'connected_gene': 'LOC100131635', 'score': 10.23}, {'connected_gene': 'TBCCD1', 'score': 9.99}, {'connected_gene': 'SNORA4', 'score': 0.37}, {'connected_gene': 'GC03P186839', 'score': 0.37}]
chr3	GH03I186993	186993722	186994788	0.77	[{'connected_gene': 'TBCCD1', 'score': 22.77}, {'connected_gene': 'RFC4', 'score': 15.11}, {'connected_gene': 'ENSG00000200418', 'score': 13.62}, {'connected_gene': 'SNORA4', 'score': 12.98}, {'connected_gene': 'ADIPOQ-AS1', 'score': 11.45}, {'connected_gene': 'ADIPOQ', 'score': 10.66}, {'connected_gene': 'SNORA81', 'score': 9.9}, {'connected_gene': 'LOC101929079', 'score': 0.77}, {'connected_gene': 'GC03P186996', 'score': 0.77}, {'connected_gene': 'GC03P186997', 'score': 0.77}, {'connected_gene': 'ST6GAL1', 'score': 0.21}]
chr3	GH03I186570	186569530	186571861	2.06	[{'connected_gene': 'TBCCD1', 'score': 591.33}, {'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 74.57}, {'connected_gene': 'ENSG00000200418', 'score': 32.15}, {'connected_gene': 'SNORA4', 'score': 27.24}, {'connected_gene': 'SNORA81', 'score': 20.56}, {'connected_gene': 'RFC4', 'score': 11.98}, {'connected_gene': 'RPS20P14', 'score': 10.31}, {'connected_gene': 'SNORA63', 'score': 9.73}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}]
chr3	GH03I186566	186566261	186568529	2.03	[{'connected_gene': 'TBCCD1', 'score': 575.74}, {'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 30.63}, {'connected_gene': 'RFC4', 'score': 11.5}, {'connected_gene': 'ENSG00000200418', 'score': 10.32}, {'connected_gene': 'SNORA4', 'score': 10.0}, {'connected_gene': 'PIR33054', 'score': 0.39}]
chr3	GH03I186947	186947123	186950687	1.31	[{'connected_gene': 'TBCCD1', 'score': 12.48}, {'connected_gene': 'ADIPOQ-AS1', 'score': 11.09}, {'connected_gene': 'ADIPOQ', 'score': 10.97}, {'connected_gene': 'ENSG00000200418', 'score': 10.81}, {'connected_gene': 'RPS20P14', 'score': 10.5}, {'connected_gene': 'LOC100131635', 'score': 10.45}, {'connected_gene': 'BCL6-AS1', 'score': 9.88}, {'connected_gene': 'ST6GAL1', 'score': 6.27}, {'connected_gene': 'GC03P186932', 'score': 0.37}, {'connected_gene': 'LOC101929079', 'score': 0.26}]
chr3	GH03I186569	186569001	186569200	0.31	[{'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TBCCD1', 'score': 550.77}]
chr3	GH03I186105	186105283	186110888	2.45	[{'connected_gene': 'ETV5', 'score': 550.77}, {'connected_gene': 'TBCCD1', 'score': 45.35}, {'connected_gene': 'TRA2B', 'score': 25.49}, {'connected_gene': 'ENSG00000200418', 'score': 20.99}, {'connected_gene': 'RFC4', 'score': 10.9}, {'connected_gene': 'SNORA81', 'score': 10.8}, {'connected_gene': 'SNORA4', 'score': 9.92}, {'connected_gene': 'ETV5-AS1', 'score': 0.31}, {'connected_gene': 'DGKG', 'score': 0.07}]
chr3	GH03I187138	187138419	187140362	1.99	[{'connected_gene': 'RPL39L', 'score': 550.26}, {'connected_gene': 'ADIPOQ', 'score': 10.58}, {'connected_gene': 'LOC100131635', 'score': 10.23}, {'connected_gene': 'TBCCD1', 'score': 9.95}, {'connected_gene': 'RPL39P19', 'score': 0.37}]
chr3	GH03I185768	185768613	185768762	0.89	[{'connected_gene': 'MIR548AQ', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 17.9}, {'connected_gene': 'TBCCD1', 'score': 16.58}, {'connected_gene': 'IGF2BP2-AS1', 'score': 11.99}, {'connected_gene': 'IGF2BP2', 'score': 11.48}]
chr3	GH03I186772	186772147	186773678	1.74	[{'connected_gene': 'GPS2P2', 'score': 559.87}, {'connected_gene': 'RNU6-1105P', 'score': 550.77}, {'connected_gene': 'LOC105374258', 'score': 550.77}, {'connected_gene': 'GC03M186772', 'score': 550.77}, {'connected_gene': 'TBCCD1', 'score': 1.52}, {'connected_gene': 'EIF4A2', 'score': 1.51}, {'connected_gene': 'ST6GAL1', 'score': 1.34}]
chr3	GH03I187062	187062041	187067091	1.56	[{'connected_gene': 'ENSG00000200418', 'score': 15.63}, {'connected_gene': 'SNORA4', 'score': 12.82}, {'connected_gene': 'TBCCD1', 'score': 11.5}, {'connected_gene': 'ADIPOQ', 'score': 11.11}, {'connected_gene': 'RPL39L', 'score': 11.02}, {'connected_gene': 'LOC100131635', 'score': 10.65}, {'connected_gene': 'SNORA81', 'score': 9.94}, {'connected_gene': 'ST6GAL1', 'score': 6.79}, {'connected_gene': 'PIR46786', 'score': 0.39}, {'connected_gene': 'GC03P186996', 'score': 0.2}, {'connected_gene': 'GC03P186997', 'score': 0.2}]
chr3	GH03I186824	186824881	186828161	1.46	[{'connected_gene': 'ENSG00000231982', 'score': 558.23}, {'connected_gene': 'LINC02043', 'score': 550.77}, {'connected_gene': 'ENSG00000200418', 'score': 21.66}, {'connected_gene': 'RFC4', 'score': 18.03}, {'connected_gene': 'TRA2B', 'score': 17.84}, {'connected_gene': 'TBCCD1', 'score': 16.91}, {'connected_gene': 'SNORA63', 'score': 11.43}, {'connected_gene': 'SNORA81', 'score': 11.43}, {'connected_gene': 'EIF4A2', 'score': 11.42}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.47}, {'connected_gene': 'SNORA4', 'score': 10.21}, {'connected_gene': 'AHSG', 'score': 10.17}, {'connected_gene': 'KNG1', 'score': 9.79}, {'connected_gene': 'ADIPOQ', 'score': 7.56}]