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
ENST00000373232	[[71962585, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993183]]	[[71962910, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
ENST00000610026	[[71963344, 71966089], [71968960, 71969046], [71969313, 71970006]]	None
ENST00000373230	[[71969400, 71969441], [71969950, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993093]]	[[71970149, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
ENST00000608321	[[71970149, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993160]]	[[71970149, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
ENST00000460755	[[71978200, 71978573], [71990096, 71990135]]	None
ENST00000495346	[[71978534, 71978573], [71990096, 71990155], [71993483, 71993667]]	None
NM_021129	[[71962585, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993190]]	[[71962910, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]

Promoter

Chrom	Start	End	Description
chr10	71993114	71993128	CAGE_peak_3_at_PPA1_5end
chr10	71993138	71993163	CAGE_peak_1_at_PPA1_5end
chr10	71993176	71993193	CAGE_peak_2_at_PPA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I070130	70130246	70133644	2.23	[{'connected_gene': 'AIFM2', 'score': 556.16}, {'connected_gene': 'SAR1A', 'score': 30.09}, {'connected_gene': 'PPA1', 'score': 14.38}, {'connected_gene': 'PIR50368', 'score': 0.37}]
chr10	GH10I070331	70331099	70332600	1.38	[{'connected_gene': 'NPFFR1', 'score': 12.27}, {'connected_gene': 'PPA1', 'score': 11.27}, {'connected_gene': 'CALM2P2', 'score': 10.22}, {'connected_gene': 'SAR1A', 'score': 10.22}, {'connected_gene': 'TYSND1', 'score': 10.21}, {'connected_gene': 'LRRC20', 'score': 0.23}]
chr10	GH10I070342	70342489	70344392	0.52	[{'connected_gene': 'NPFFR1', 'score': 11.49}, {'connected_gene': 'PPA1', 'score': 11.41}, {'connected_gene': 'CALM2P2', 'score': 10.32}, {'connected_gene': 'SAR1A', 'score': 10.32}, {'connected_gene': 'TYSND1', 'score': 10.11}, {'connected_gene': 'NODAL', 'score': 9.35}, {'connected_gene': 'LRRC20', 'score': 6.35}]
chr10	GH10I070337	70337245	70337394	0.2	[{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10	GH10I070338	70337485	70337634	0.2	[{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10	GH10I070168	70168788	70171535	2.04	[{'connected_gene': 'SAR1A', 'score': 563.02}, {'connected_gene': 'AIFM2', 'score': 27.56}, {'connected_gene': 'TYSND1', 'score': 12.44}, {'connected_gene': 'PPA1', 'score': 5.26}, {'connected_gene': 'CALM2P2', 'score': 0.44}]
chr10	GH10I070227	70227085	70228916	0.57	[{'connected_gene': 'LRRC20', 'score': 11.8}, {'connected_gene': 'CEP57L1P1', 'score': 11.79}, {'connected_gene': 'NPFFR1', 'score': 10.69}, {'connected_gene': 'PPA1', 'score': 8.1}, {'connected_gene': 'GC10M070217', 'score': 0.44}]
chr10	GH10I070353	70353721	70356577	1.03	[{'connected_gene': 'LRRC20', 'score': 13.19}, {'connected_gene': 'EIF4EBP2', 'score': 12.03}, {'connected_gene': 'NPFFR1', 'score': 11.15}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'UNC5B-AS1', 'score': 6.15}, {'connected_gene': 'ENSG00000280401', 'score': 5.86}]
chr10	GH10I070357	70357345	70359006	1.08	[{'connected_gene': 'LRRC20', 'score': 15.71}, {'connected_gene': 'EIF4EBP2', 'score': 12.03}, {'connected_gene': 'NPFFR1', 'score': 11.15}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'NODAL', 'score': 6.86}, {'connected_gene': 'UNC5B-AS1', 'score': 6.17}]
chr10	GH10I070255	70255585	70256588	0.62	[{'connected_gene': 'PPA1', 'score': 39.17}, {'connected_gene': 'AIFM2', 'score': 15.37}, {'connected_gene': 'NPFFR1', 'score': 0.31}]
chr10	GH10I070190	70190137	70194529	0.96	[{'connected_gene': 'PPA1', 'score': 62.41}, {'connected_gene': 'AIFM2', 'score': 16.33}, {'connected_gene': 'SAR1A', 'score': 12.15}, {'connected_gene': 'CALM2P2', 'score': 12.12}, {'connected_gene': 'TYSND1', 'score': 12.06}, {'connected_gene': 'RPS25P9', 'score': 0.44}]
chr10	GH10I070231	70231683	70235779	2.28	[{'connected_gene': 'PPA1', 'score': 612.3}, {'connected_gene': 'AIFM2', 'score': 14.02}, {'connected_gene': 'SAR1A', 'score': 12.52}, {'connected_gene': 'NPFFR1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.37}]
chr10	GH10I070274	70274577	70275147	0.2	[{'connected_gene': 'PPA1', 'score': 11.84}, {'connected_gene': 'AIFM2', 'score': 9.8}, {'connected_gene': 'NODAL', 'score': 9.43}, {'connected_gene': 'NPFFR1', 'score': 0.44}]
chr10	GH10I070138	70137805	70138944	0.63	[{'connected_gene': 'PPA1', 'score': 39.31}, {'connected_gene': 'AIFM2', 'score': 18.08}, {'connected_gene': 'PIR42845', 'score': 0.44}, {'connected_gene': 'TYSND1', 'score': 0.44}]
chr10	GH10I070258	70258088	70259514	0.65	[{'connected_gene': 'PPA1', 'score': 13.19}, {'connected_gene': 'NPFFR1', 'score': 12.04}, {'connected_gene': 'SAR1A', 'score': 10.27}, {'connected_gene': 'CALM2P2', 'score': 10.26}, {'connected_gene': 'TYSND1', 'score': 10.24}]
chr10	GH10I070322	70322554	70326627	1.57	[{'connected_gene': 'PPA1', 'score': 16.49}, {'connected_gene': 'NPFFR1', 'score': 12.47}, {'connected_gene': 'NODAL', 'score': 9.83}, {'connected_gene': 'LRRC20', 'score': 6.48}]
chr10	GH10I070257	70257925	70258074	0.2	[{'connected_gene': 'PPA1', 'score': 5.7}, {'connected_gene': 'NPFFR1', 'score': 0.31}]
chr10	GH10I070137	70137432	70137494	0.84	[{'connected_gene': 'PPA1', 'score': 8.25}, {'connected_gene': 'SAR1A', 'score': 6.4}, {'connected_gene': 'AIFM2', 'score': 0.77}, {'connected_gene': 'PIR42845', 'score': 0.44}]
chr10	GH10I070221	70221228	70223422	1.02	[{'connected_gene': 'PPA1', 'score': 58.75}, {'connected_gene': 'SAR1A', 'score': 23.99}, {'connected_gene': 'CEP57L1P1', 'score': 11.86}, {'connected_gene': 'LRRC20', 'score': 11.86}, {'connected_gene': 'CALM2P2', 'score': 11.45}, {'connected_gene': 'NPFFR1', 'score': 11.18}, {'connected_gene': 'TYSND1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.77}]
chr10	GH10I070266	70266478	70268239	1.28	[{'connected_gene': 'PPA1', 'score': 19.86}, {'connected_gene': 'LRRC20', 'score': 11.16}, {'connected_gene': 'CEP57L1P1', 'score': 11.16}, {'connected_gene': 'AIFM2', 'score': 9.04}, {'connected_gene': 'NPFFR1', 'score': 0.37}]
chr10	GH10I070272	70272425	70273411	0.81	[{'connected_gene': 'PPA1', 'score': 11.97}, {'connected_gene': 'LRRC20', 'score': 11.18}, {'connected_gene': 'CEP57L1P1', 'score': 11.16}, {'connected_gene': 'NPFFR1', 'score': 0.39}]
chr10	GH10I070295	70295645	70297553	1.02	[{'connected_gene': 'PPA1', 'score': 11.53}, {'connected_gene': 'EIF4EBP2', 'score': 10.77}, {'connected_gene': 'NPFFR1', 'score': 6.2}, {'connected_gene': 'LRRC20', 'score': 0.17}]
chr10	GH10I070265	70265185	70265374	0.57	[{'connected_gene': 'PPA1', 'score': 12.62}, {'connected_gene': 'EIF4EBP2', 'score': 11.26}, {'connected_gene': 'NPFFR1', 'score': 0.37}]
chr10	GH10I069863	69863118	69865582	0.94	[{'connected_gene': 'FAM241B', 'score': 10.06}, {'connected_gene': 'PPA1', 'score': 5.23}, {'connected_gene': 'LOC105378347', 'score': 0.26}, {'connected_gene': 'COL13A1', 'score': 0.21}, {'connected_gene': 'LOC102723350', 'score': 0.1}]
chr10	GH10I070352	70352061	70353298	1.05	[{'connected_gene': 'EIF4EBP2', 'score': 12.01}, {'connected_gene': 'NPFFR1', 'score': 11.16}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'NODAL', 'score': 5.6}, {'connected_gene': 'LRRC20', 'score': 0.31}]
chr10	GH10I070161	70161922	70164266	0.91	[{'connected_gene': 'GC10M070161', 'score': 550.77}, {'connected_gene': 'CALM2P2', 'score': 550.77}, {'connected_gene': 'AIFM2', 'score': 17.94}, {'connected_gene': 'PPA1', 'score': 7.35}, {'connected_gene': 'SAR1A', 'score': 0.44}]
chr10	GH10I070144	70144884	70147981	2.26	[{'connected_gene': 'PIR42845', 'score': 550.77}, {'connected_gene': 'PIR38078', 'score': 550.77}, {'connected_gene': 'GC10M070148', 'score': 550.77}, {'connected_gene': 'TYSND1', 'score': 550.77}, {'connected_gene': 'PPA1', 'score': 23.73}, {'connected_gene': 'AIFM2', 'score': 18.04}, {'connected_gene': 'SAR1A', 'score': 13.0}]