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
ENST00000296577	[[146019083, 146019571], [146025537, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146050331]]	[[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]
ENST00000502586	[[146019439, 146019571], [146025540, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032136]]	[[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032136]]
ENST00000502803	[[146019462, 146019571], [146025537, 146025667], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044457]]	None
ENST00000507193	[[146019462, 146019571], [146025537, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146042755, 146042965], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]	[[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146042755, 146042758]]
ENST00000506506	[[146019465, 146019571], [146044172, 146044283], [146044366, 146044509], [146044629, 146044690]]	None
ENST00000504292	[[146029178, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146033390, 146033480], [146038444, 146038567]]	[[146029178, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146033390, 146033422]]
ENST00000515678	[[146042161, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044842]]	None
ENST00000509593	[[146042185, 146042543], [146044172, 146044283], [146044366, 146044479]]	None
ENST00000510321	[[146042471, 146044283], [146044366, 146045083]]	None
ENST00000504683	[[146044020, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048795]]	None
NM_001040876	[[146019155, 146019571], [146025540, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146050676]]	[[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]
NM_002940	[[146019155, 146019571], [146025537, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146050676]]	[[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]

Promoter

Chrom	Start	End	Description
chr4	146019421	146019495	CAGE_peak_1_at_ABCE1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I145175	145175643	145183385	2.47	[{'connected_gene': 'OTUD4', 'score': 551.96}, {'connected_gene': 'LOC105377463', 'score': 550.77}, {'connected_gene': 'ANAPC10', 'score': 11.83}, {'connected_gene': 'ABCE1', 'score': 9.89}, {'connected_gene': 'MMAA', 'score': 2.38}]
chr4	GH04I145130	145130191	145131800	0.69	[{'connected_gene': 'OTUD4', 'score': 11.53}, {'connected_gene': 'ANAPC10', 'score': 11.32}, {'connected_gene': 'ABCE1', 'score': 11.32}, {'connected_gene': 'ENSG00000238713', 'score': 0.37}, {'connected_gene': 'GC04M145151', 'score': 0.37}]
chr4	GH04I145132	145132069	145133232	0.7	[{'connected_gene': 'OTUD4', 'score': 11.53}, {'connected_gene': 'ANAPC10', 'score': 11.32}, {'connected_gene': 'ABCE1', 'score': 11.32}, {'connected_gene': 'ENSG00000238713', 'score': 0.37}, {'connected_gene': 'GC04M145151', 'score': 0.37}]
chr4	GH04I145103	145103106	145103162	0.24	[{'connected_gene': 'OTUD4', 'score': 10.99}, {'connected_gene': 'ANAPC10', 'score': 0.77}, {'connected_gene': 'ABCE1', 'score': 0.44}, {'connected_gene': 'ENSG00000238713', 'score': 0.25}, {'connected_gene': 'GC04M145151', 'score': 0.25}]
chr4	GH04I145043	145043380	145043587	0.4	[{'connected_gene': 'RN7SKP235', 'score': 0.44}, {'connected_gene': 'ABCE1', 'score': 0.23}, {'connected_gene': 'ANAPC10', 'score': 0.22}]
chr4	GH04I145036	145036340	145037500	0.2	[{'connected_gene': 'RN7SKP235', 'score': 550.77}, {'connected_gene': 'ANAPC10', 'score': 0.21}, {'connected_gene': 'ABCE1', 'score': 0.21}]
chr4	GH04I145058	145058860	145059746	0.2	[{'connected_gene': 'RN7SKP235', 'score': 0.34}, {'connected_gene': 'ANAPC10', 'score': 0.28}, {'connected_gene': 'ABCE1', 'score': 0.28}]
chr4	GH04I145124	145124997	145127053	0.46	[{'connected_gene': 'ANAPC10', 'score': 11.55}, {'connected_gene': 'ABCE1', 'score': 11.55}, {'connected_gene': 'OTUD4', 'score': 11.52}, {'connected_gene': 'ENSG00000238713', 'score': 0.34}, {'connected_gene': 'GC04M145151', 'score': 0.34}]
chr4	GH04I145096	145096387	145100407	2.27	[{'connected_gene': 'ANAPC10', 'score': 550.77}, {'connected_gene': 'ABCE1', 'score': 550.77}, {'connected_gene': 'ENSG00000248356', 'score': 11.79}, {'connected_gene': 'OTUD4', 'score': 10.98}]
chr4	GH04I145065	145065915	145066801	0.59	[{'connected_gene': 'ANAPC10', 'score': 0.29}, {'connected_gene': 'ABCE1', 'score': 0.29}, {'connected_gene': 'RN7SKP235', 'score': 0.29}]
chr4	GH04I145084	145084029	145084178	0.38	[{'connected_gene': 'ANAPC10', 'score': 0.39}, {'connected_gene': 'ABCE1', 'score': 0.39}, {'connected_gene': 'RN7SKP235', 'score': 0.25}]
chr4	GH04I145057	145057421	145058288	0.2	[{'connected_gene': 'ANAPC10', 'score': 11.01}, {'connected_gene': 'ABCE1', 'score': 11.01}, {'connected_gene': 'RN7SKP235', 'score': 0.34}]
chr4	GH04I145085	145084420	145084970	0.2	[{'connected_gene': 'ANAPC10', 'score': 0.39}, {'connected_gene': 'ABCE1', 'score': 0.39}, {'connected_gene': 'RN7SKP235', 'score': 0.25}]
chr4	GH04I145074	145074352	145075383	0.2	[{'connected_gene': 'ANAPC10', 'score': 11.84}, {'connected_gene': 'ABCE1', 'score': 11.84}, {'connected_gene': 'RN7SKP235', 'score': 0.28}]
chr4	GH04I145075	145075399	145076317	0.31	[{'connected_gene': 'ANAPC10', 'score': 11.84}, {'connected_gene': 'ABCE1', 'score': 11.84}, {'connected_gene': 'RN7SKP235', 'score': 0.26}]
chr4	GH04I145195	145195209	145196298	0.69	[{'connected_gene': 'ANAPC10', 'score': 10.38}, {'connected_gene': 'ABCE1', 'score': 10.38}, {'connected_gene': 'LOC105377465', 'score': 0.44}, {'connected_gene': 'GC04P145186', 'score': 0.44}]
chr4	GH04I145171	145171637	145172242	0.46	[{'connected_gene': 'ANAPC10', 'score': 10.81}, {'connected_gene': 'ABCE1', 'score': 10.81}, {'connected_gene': 'LOC105377463', 'score': 0.44}, {'connected_gene': 'OTUD4', 'score': 0.44}, {'connected_gene': 'GC04M145156', 'score': 0.37}]