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
ENST00000257963	[[52345450, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52390862]]	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52387894]]
ENST00000541224	[[52345484, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52376469, 52376592], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52388001]]	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52376469, 52376592], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52387894]]
ENST00000426655	[[52345485, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52386125]]	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385816]]
ENST00000536420	[[52345489, 52345618], [52353839, 52353971], [52369048, 52369288], [52370110, 52370148]]	[[52369113, 52369288], [52370110, 52370148]]
ENST00000415850	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52381130]]	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380929]]
ENST00000542485	[[52347163, 52347283], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52388709]]	[[52369113, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52387894]]
ENST00000563121	[[52377818, 52377950], [52378975, 52379132], [52385646, 52385776]]	None
NM_004302	[[52345450, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52390863]]	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52387894]]
NM_020328	[[52345450, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52376469, 52376592], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52390863]]	[[52345527, 52345618], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52376469, 52376592], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52387894]]
NM_020327	[[52347163, 52347283], [52369048, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52390863]]	[[52369113, 52369288], [52370110, 52370359], [52374752, 52374983], [52377782, 52377950], [52378975, 52379132], [52380601, 52380726], [52385646, 52385777], [52387768, 52387894]]

Promoter

Chrom	Start	End	Description
chr12	52345448	52345532	CAGE_peak_1_at_ACVR1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I051922	51922024	51927360	1.35	[{'connected_gene': 'ACVRL1', 'score': 7.79}, {'connected_gene': 'OR7E47P', 'score': 5.64}, {'connected_gene': 'GC12P051921', 'score': 0.77}, {'connected_gene': 'ACVR1B', 'score': 0.31}, {'connected_gene': 'GC12P051832', 'score': 0.16}, {'connected_gene': 'GC12P051838', 'score': 0.16}, {'connected_gene': 'GC12P051835', 'score': 0.16}, {'connected_gene': 'GC12P051836', 'score': 0.16}, {'connected_gene': 'GC12P051837', 'score': 0.16}]
chr12	GH12I051951	51951001	51956887	2.41	[{'connected_gene': 'ACVR1B', 'score': 556.66}, {'connected_gene': 'CSRNP2', 'score': 9.92}, {'connected_gene': 'GC12P051989', 'score': 0.29}]
chr12	GH12I051975	51975815	51978283	1.25	[{'connected_gene': 'ACVR1B', 'score': 13.13}, {'connected_gene': 'GRASP', 'score': 12.4}, {'connected_gene': 'NR4A1', 'score': 12.33}, {'connected_gene': 'ACVRL1', 'score': 12.09}, {'connected_gene': 'ANKRD33', 'score': 11.99}, {'connected_gene': 'ENSG00000260473', 'score': 4.7}, {'connected_gene': 'GC12P051989', 'score': 0.39}]
chr12	GH12I052031	52031855	52034757	1.72	[{'connected_gene': 'ATG101', 'score': 12.03}, {'connected_gene': 'RNU6-574P', 'score': 11.47}, {'connected_gene': 'NR4A1', 'score': 9.67}, {'connected_gene': 'GRASP', 'score': 3.81}, {'connected_gene': 'ACVR1B', 'score': 1.93}, {'connected_gene': 'ENSG00000259884', 'score': 0.31}]
chr12	GH12I051940	51940967	51942521	0.62	[{'connected_gene': 'POU6F1', 'score': 14.08}, {'connected_gene': 'ACVR1B', 'score': 0.44}, {'connected_gene': 'GC12P051921', 'score': 0.34}]
chr12	GH12I052041	52041026	52047831	1.45	[{'connected_gene': 'NR4A1', 'score': 12.68}, {'connected_gene': 'OR7E47P', 'score': 7.07}, {'connected_gene': 'ENSG00000261586', 'score': 5.33}, {'connected_gene': 'GRASP', 'score': 4.27}, {'connected_gene': 'ACVR1B', 'score': 1.77}, {'connected_gene': 'ENSG00000259884', 'score': 0.37}]
chr12	GH12I051969	51969985	51975200	1.75	[{'connected_gene': 'NR4A1', 'score': 18.14}, {'connected_gene': 'GRASP', 'score': 14.33}, {'connected_gene': 'ACVR1B', 'score': 13.02}, {'connected_gene': 'ACVRL1', 'score': 12.29}, {'connected_gene': 'ANKRD33', 'score': 11.39}, {'connected_gene': 'GC12P051989', 'score': 0.37}]
chr12	GH12I052196	52196680	52219185	1.73	[{'connected_gene': 'ZNF740', 'score': 43.5}, {'connected_gene': 'HNRNPA3P10', 'score': 38.13}, {'connected_gene': 'KRT7', 'score': 33.58}, {'connected_gene': 'KRT86', 'score': 11.72}, {'connected_gene': 'KRT87P', 'score': 11.69}, {'connected_gene': 'KRT81', 'score': 11.15}, {'connected_gene': 'POU6F1', 'score': 10.95}, {'connected_gene': 'KRT83', 'score': 10.81}, {'connected_gene': 'LOC283335', 'score': 10.78}, {'connected_gene': 'KRT7-AS', 'score': 10.76}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'KRT84', 'score': 9.69}, {'connected_gene': 'KRT6C', 'score': 8.97}, {'connected_gene': 'KRT80', 'score': 7.52}, {'connected_gene': 'C12orf80', 'score': 7.26}, {'connected_gene': 'LINC00592', 'score': 6.62}, {'connected_gene': 'NR4A1', 'score': 5.7}, {'connected_gene': 'ACVR1B', 'score': 1.86}, {'connected_gene': 'KRT71', 'score': 1.42}, {'connected_gene': 'GRASP', 'score': 1.2}, {'connected_gene': 'GC12P052184', 'score': 0.31}, {'connected_gene': 'GC12P052156', 'score': 0.23}]
chr12	GH12I051980	51980417	51980606	0.98	[{'connected_gene': 'GRASP', 'score': 12.4}, {'connected_gene': 'NR4A1', 'score': 12.35}, {'connected_gene': 'ACVRL1', 'score': 12.09}, {'connected_gene': 'ANKRD33', 'score': 11.98}, {'connected_gene': 'ACVR1B', 'score': 11.81}, {'connected_gene': 'GC12P051989', 'score': 0.44}]
chr12	GH12I052180	52180900	52196029	2.18	[{'connected_gene': 'KRT80', 'score': 577.37}, {'connected_gene': 'ZNF740', 'score': 33.88}, {'connected_gene': 'KRT7', 'score': 16.34}, {'connected_gene': 'HNRNPA3P10', 'score': 15.27}, {'connected_gene': 'POU6F1', 'score': 14.08}, {'connected_gene': 'SPRYD3', 'score': 13.93}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'C12orf80', 'score': 6.82}, {'connected_gene': 'NR4A1', 'score': 5.14}, {'connected_gene': 'FIGNL2', 'score': 2.46}, {'connected_gene': 'ACVRL1', 'score': 2.35}, {'connected_gene': 'ATG101', 'score': 1.59}, {'connected_gene': 'GRASP', 'score': 1.33}, {'connected_gene': 'ACVR1B', 'score': 1.32}, {'connected_gene': 'GC12P052184', 'score': 0.44}, {'connected_gene': 'LINC00592', 'score': 0.34}, {'connected_gene': 'GC12P052156', 'score': 0.29}]
chr12	GH12I051958	51958730	51963953	0.94	[{'connected_gene': 'RNU6-574P', 'score': 12.0}, {'connected_gene': 'NR4A1', 'score': 11.5}, {'connected_gene': 'GRASP', 'score': 11.15}, {'connected_gene': 'ENSG00000260473', 'score': 6.07}, {'connected_gene': 'ACVR1B', 'score': 0.44}, {'connected_gene': 'GC12P051989', 'score': 0.31}]
chr12	GH12I051921	51921037	51921778	0.83	[{'connected_gene': 'GC12P051921', 'score': 550.77}, {'connected_gene': 'ACVRL1', 'score': 0.39}, {'connected_gene': 'ACVR1B', 'score': 0.29}, {'connected_gene': 'GC12P051836', 'score': 0.16}, {'connected_gene': 'GC12P051832', 'score': 0.16}, {'connected_gene': 'GC12P051838', 'score': 0.16}, {'connected_gene': 'GC12P051835', 'score': 0.16}, {'connected_gene': 'GC12P051837', 'score': 0.16}]
chr12	GH12I051994	51994417	51995726	0.63	[{'connected_gene': 'PIR52347', 'score': 550.77}, {'connected_gene': 'GC12M051995', 'score': 550.77}, {'connected_gene': 'ENSG00000260473', 'score': 4.91}, {'connected_gene': 'ACVR1B', 'score': 0.26}]
chr12	GH12I052163	52163577	52166456	1.57	[{'connected_gene': 'GC12M052162', 'score': 550.77}, {'connected_gene': 'LINC00592', 'score': 550.77}, {'connected_gene': 'KRT80', 'score': 12.57}, {'connected_gene': 'KRT81', 'score': 11.18}, {'connected_gene': 'KRT7', 'score': 10.93}, {'connected_gene': 'KRT86', 'score': 10.8}, {'connected_gene': 'KRT87P', 'score': 10.78}, {'connected_gene': 'KRT83', 'score': 10.69}, {'connected_gene': 'KRT84', 'score': 10.07}, {'connected_gene': 'ACVR1B', 'score': 3.35}, {'connected_gene': 'NR4A1', 'score': 2.09}, {'connected_gene': 'GC12P052156', 'score': 0.44}, {'connected_gene': 'GC12P052184', 'score': 0.37}]
chr12	GH12I051992	51992697	51993538	1.09	[{'connected_gene': 'PIR52347', 'score': 550.77}, {'connected_gene': 'KRT7-AS', 'score': 10.55}, {'connected_gene': 'RNU6-574P', 'score': 0.44}, {'connected_gene': 'ACVR1B', 'score': 0.26}]