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
ENST00000528638	[[77300435, 77300725], [77301573, 77301656], [77314600, 77314717], [77320342, 77321054]]	None
ENST00000313578	[[77300679, 77301656], [77314600, 77314717], [77320342, 77321400]]	[[77301037, 77301656], [77314600, 77314717], [77320342, 77320422]]
NM_173039	[[77300679, 77301656], [77314600, 77314717], [77320342, 77321401]]	[[77301037, 77301656], [77314600, 77314717], [77320342, 77320422]]

Promoter

Chrom	Start	End	Description
chr11	77300669	77300714	CAGE_peak_2_at_AQP11_5end
chr11	77300973	77301027	CAGE_peak_1_at_AQP11_5end
chr11	77301037	77301042	CAGE_peak_8_at_AQP11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I077752	77752147	77754024	0.31	[{'connected_gene': 'INTS4', 'score': 17.6}, {'connected_gene': 'AAMDC', 'score': 15.6}, {'connected_gene': 'AQP11', 'score': 6.99}, {'connected_gene': 'RSF1-IT1', 'score': 0.39}, {'connected_gene': 'GC11P077793', 'score': 0.26}, {'connected_gene': 'RSF1', 'score': 0.2}]
chr11	GH11I077958	77958368	77960078	0.69	[{'connected_gene': 'INTS4', 'score': 21.04}, {'connected_gene': 'AAMDC', 'score': 17.53}, {'connected_gene': 'AQP11', 'score': 8.2}, {'connected_gene': 'ENSG00000255115', 'score': 0.26}]
chr11	GH11I077570	77570716	77573189	0.2	[{'connected_gene': 'LOC646029', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 12.65}, {'connected_gene': 'CLNS1A', 'score': 12.39}, {'connected_gene': 'AAMDC', 'score': 12.31}, {'connected_gene': 'AQP11', 'score': 8.52}, {'connected_gene': 'PAK1', 'score': 7.75}, {'connected_gene': 'MYO7A', 'score': 4.71}, {'connected_gene': 'GC11M077568', 'score': 0.34}]
chr11	GH11I077469	77469068	77476459	2.25	[{'connected_gene': 'PAK1', 'score': 566.46}, {'connected_gene': 'ENSG00000268635', 'score': 550.77}, {'connected_gene': 'RSF1', 'score': 18.54}, {'connected_gene': 'GDPD4', 'score': 15.26}, {'connected_gene': 'RPL21P95', 'score': 12.17}, {'connected_gene': 'ENSG00000254459', 'score': 10.03}, {'connected_gene': 'AQP11', 'score': 10.0}, {'connected_gene': 'MYO7A', 'score': 4.76}, {'connected_gene': 'GC11P077330', 'score': 0.11}]
chr11	GH11I077410	77410023	77413120	1.88	[{'connected_gene': 'PAK1', 'score': 578.31}, {'connected_gene': 'GDPD4', 'score': 24.5}, {'connected_gene': 'AQP11', 'score': 9.77}, {'connected_gene': 'ENSG00000268635', 'score': 0.21}, {'connected_gene': 'GC11P077330', 'score': 0.18}]
chr11	GH11I077418	77418401	77419922	0.74	[{'connected_gene': 'PAK1', 'score': 19.9}, {'connected_gene': 'GDPD4', 'score': 16.47}, {'connected_gene': 'AQP11', 'score': 10.19}, {'connected_gene': 'ENSG00000268635', 'score': 0.23}, {'connected_gene': 'GC11P077330', 'score': 0.17}]
chr11	GH11I077444	77444880	77446517	1.26	[{'connected_gene': 'PAK1', 'score': 28.63}, {'connected_gene': 'GDPD4', 'score': 13.9}, {'connected_gene': 'AQP11', 'score': 10.02}, {'connected_gene': 'ENSG00000268635', 'score': 0.31}, {'connected_gene': 'GC11P077330', 'score': 0.13}]
chr11	GH11I077929	77929955	77930735	0.65	[{'connected_gene': 'AAMDC', 'score': 17.59}, {'connected_gene': 'INTS4', 'score': 15.64}, {'connected_gene': 'AQP11', 'score': 7.65}, {'connected_gene': 'ENSG00000255115', 'score': 0.37}]
chr11	GH11I077818	77818848	77824458	2.29	[{'connected_gene': 'AAMDC', 'score': 566.19}, {'connected_gene': 'RSF1', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 42.95}, {'connected_gene': 'RPL21P95', 'score': 16.86}, {'connected_gene': 'ENSG00000255449', 'score': 14.25}, {'connected_gene': 'LOC101928865', 'score': 13.52}, {'connected_gene': 'AQP11', 'score': 6.39}, {'connected_gene': 'ENSG00000254691', 'score': 0.31}]
chr11	GH11I077601	77601447	77604105	0.92	[{'connected_gene': 'AAMDC', 'score': 13.54}, {'connected_gene': 'CLNS1A', 'score': 12.55}, {'connected_gene': 'MYO7A', 'score': 10.39}, {'connected_gene': 'AQP11', 'score': 8.52}, {'connected_gene': 'GC11M077568', 'score': 0.44}, {'connected_gene': 'GC11P077625', 'score': 0.34}]
chr11	GH11I077617	77617956	77618105	0.2	[{'connected_gene': 'AQP11', 'score': 11.57}, {'connected_gene': 'PAK1', 'score': 10.51}, {'connected_gene': 'GC11P077625', 'score': 0.44}, {'connected_gene': 'CLNS1A', 'score': 0.37}, {'connected_gene': 'GC11M077568', 'score': 0.34}]
chr11	GH11I077619	77619716	77619865	0.57	[{'connected_gene': 'AQP11', 'score': 11.55}, {'connected_gene': 'PAK1', 'score': 10.51}, {'connected_gene': 'GC11P077625', 'score': 0.44}, {'connected_gene': 'CLNS1A', 'score': 0.37}, {'connected_gene': 'GC11M077568', 'score': 0.34}]
chr11	GH11I077557	77557494	77562242	1.02	[{'connected_gene': 'AQP11', 'score': 11.1}, {'connected_gene': 'MYO7A', 'score': 10.51}, {'connected_gene': 'AAMDC', 'score': 7.8}, {'connected_gene': 'INTS4', 'score': 5.8}, {'connected_gene': 'CLNS1A', 'score': 4.72}, {'connected_gene': 'GC11M077551', 'score': 0.44}, {'connected_gene': 'GC11M077567', 'score': 0.44}]
chr11	GH11I077588	77588407	77592376	2.2	[{'connected_gene': 'AQP11', 'score': 558.55}, {'connected_gene': 'AAMDC', 'score': 13.52}, {'connected_gene': 'CLNS1A', 'score': 11.9}, {'connected_gene': 'INTS4', 'score': 9.84}, {'connected_gene': 'GDPD4', 'score': 9.73}, {'connected_gene': 'GC11M077568', 'score': 0.44}]
chr11	GH11I077656	77656496	77656645	0.38	[{'connected_gene': 'AQP11', 'score': 6.87}, {'connected_gene': 'CLNS1A', 'score': 0.37}, {'connected_gene': 'GC11P077625', 'score': 0.29}, {'connected_gene': 'GC11P077692', 'score': 0.28}]
chr11	GH11I077593	77593592	77594571	0.74	[{'connected_gene': 'RNU7-59P', 'score': 11.7}, {'connected_gene': 'GDPD4', 'score': 9.88}, {'connected_gene': 'AQP11', 'score': 0.77}, {'connected_gene': 'GC11M077568', 'score': 0.77}, {'connected_gene': 'CLNS1A', 'score': 0.26}]
chr11	GH11I077890	77890515	77891691	0.49	[{'connected_gene': 'PIR41602', 'score': 550.77}, {'connected_gene': 'GC11M077891', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 10.5}, {'connected_gene': 'AQP11', 'score': 6.58}, {'connected_gene': 'PIR57546', 'score': 0.37}, {'connected_gene': 'AAMDC', 'score': 0.2}]
chr11	GH11I077598	77598316	77598445	0.59	[{'connected_gene': 'GC11M077568', 'score': 550.77}, {'connected_gene': 'AQP11', 'score': 0.44}, {'connected_gene': 'GC11P077625', 'score': 0.31}, {'connected_gene': 'CLNS1A', 'score': 0.28}]
chr11	GH11I077630	77630165	77631765	1.1	[{'connected_gene': 'GC11P077629', 'score': 550.77}, {'connected_gene': 'CLNS1A', 'score': 12.83}, {'connected_gene': 'INTS4', 'score': 12.31}, {'connected_gene': 'AQP11', 'score': 11.19}, {'connected_gene': 'GC11P077625', 'score': 0.44}]