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
ENST00000525428	[[77325574, 77327740], [77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348850]]	[[77330672, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348759]]
ENST00000263309	[[77327239, 77327740], [77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77340807, 77340944], [77348634, 77348796]]	[[77330672, 77330740], [77333544, 77333718], [77336007, 77336115], [77340807, 77340944], [77348634, 77348759]]
ENST00000525064	[[77327239, 77327740], [77330650, 77330740], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348817]]	[[77330672, 77330740], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348759]]
ENST00000526009	[[77327294, 77327740], [77330650, 77330740], [77332910, 77333089], [77333544, 77333576]]	[[77333051, 77333089], [77333544, 77333576]]
ENST00000532069	[[77327448, 77327740], [77330650, 77330740], [77333544, 77333718], [77340807, 77340944], [77348634, 77348839]]	[[77330672, 77330740], [77333544, 77333718], [77340807, 77340944], [77348634, 77348759]]
ENST00000528364	[[77329577, 77329732], [77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348821]]	[[77330672, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348759]]
ENST00000527299	[[77330528, 77330740], [77333544, 77333719]]	None
ENST00000527133	[[77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77348634, 77348827]]	[[77336838, 77336863], [77348634, 77348759]]
ENST00000526761	[[77225980, 77226007], [77240992, 77241059], [77296406, 77296504], [77322359, 77322419], [77323342, 77323415], [77330650, 77330740]]	[[77330672, 77330740]]
ENST00000533957	[[77323275, 77323562], [77324004, 77324086]]	None
ENST00000525359	[[77333504, 77333718], [77336007, 77336076]]	None
ENST00000527265	[[77333687, 77333718], [77336007, 77336596]]	None
NM_001293	[[77327195, 77327740], [77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348851]]	[[77330672, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348759]]
NM_001311201	[[77327195, 77327740], [77330650, 77330740], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348851]]	[[77330672, 77330740], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348759]]
NM_001311200	[[77327195, 77327740], [77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77340807, 77340944], [77348634, 77348851]]	[[77330672, 77330740], [77333544, 77333718], [77336007, 77336115], [77340807, 77340944], [77348634, 77348759]]
NM_001311202	[[77327195, 77327740], [77330650, 77330740], [77333544, 77333718], [77340807, 77340944], [77348634, 77348851]]	[[77330672, 77330740], [77333544, 77333718], [77340807, 77340944], [77348634, 77348759]]
NM_001311199	[[77329584, 77329732], [77330650, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348851]]	[[77330672, 77330740], [77333544, 77333718], [77336007, 77336115], [77336761, 77336863], [77340807, 77340944], [77348634, 77348759]]

Promoter

Chrom	Start	End	Description
chr11	77333695	77333707	CAGE_peak_3_at_CLNS1A_5end
chr11	77348799	77348816	CAGE_peak_2_at_CLNS1A_5end
chr11	77348821	77348860	CAGE_peak_1_at_CLNS1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I077547	77547318	77549739	0.82	[{'connected_gene': 'INTS4', 'score': 9.76}, {'connected_gene': 'AAMDC', 'score': 5.8}, {'connected_gene': 'GC11M077551', 'score': 0.77}, {'connected_gene': 'PAK1', 'score': 0.19}, {'connected_gene': 'CLNS1A', 'score': 0.17}]
chr11	GH11I077671	77671588	77673198	0.31	[{'connected_gene': 'INTS4', 'score': 16.19}, {'connected_gene': 'AAMDC', 'score': 13.36}, {'connected_gene': 'GC11P077692', 'score': 0.37}, {'connected_gene': 'CLNS1A', 'score': 0.29}, {'connected_gene': 'RSF1', 'score': 0.11}]
chr11	GH11I077633	77633801	77635800	0.95	[{'connected_gene': 'INTS4', 'score': 12.12}, {'connected_gene': 'AAMDC', 'score': 4.41}, {'connected_gene': 'CLNS1A', 'score': 0.77}, {'connected_gene': 'GC11P077625', 'score': 0.44}, {'connected_gene': 'GC11P077629', 'score': 0.44}]
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	GH11I077514	77514682	77516245	0.54	[{'connected_gene': 'PAK1', 'score': 11.13}, {'connected_gene': 'GDPD4', 'score': 10.17}, {'connected_gene': 'GC11M077551', 'score': 0.28}, {'connected_gene': 'CLNS1A', 'score': 0.13}]
chr11	GH11I077440	77440954	77444164	0.56	[{'connected_gene': 'PAK1', 'score': 28.68}, {'connected_gene': 'CLNS1A', 'score': 5.22}, {'connected_gene': 'ENSG00000268635', 'score': 0.29}, {'connected_gene': 'GC11P077330', 'score': 0.14}]
chr11	GH11I077522	77522296	77522385	0.38	[{'connected_gene': 'MYO7A', 'score': 10.3}, {'connected_gene': 'GC11M077551', 'score': 0.31}, {'connected_gene': 'PAK1', 'score': 0.25}, {'connected_gene': 'CLNS1A', 'score': 0.13}]
chr11	GH11I077669	77669784	77670910	0.67	[{'connected_gene': 'AAMDC', 'score': 14.47}, {'connected_gene': 'INTS4', 'score': 6.47}, {'connected_gene': 'GC11P077692', 'score': 0.34}, {'connected_gene': 'CLNS1A', 'score': 0.29}, {'connected_gene': 'RSF1', 'score': 0.1}]
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	GH11I077636	77636239	77638593	2.08	[{'connected_gene': 'CLNS1A', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 55.45}, {'connected_gene': 'RPL21P95', 'score': 40.14}, {'connected_gene': 'LOC101928865', 'score': 36.05}, {'connected_gene': 'ENSG00000255449', 'score': 26.18}, {'connected_gene': 'AAMDC', 'score': 12.31}, {'connected_gene': 'RSF1', 'score': 10.07}, {'connected_gene': 'GC11P077629', 'score': 0.44}, {'connected_gene': 'GC11P077625', 'score': 0.39}]
chr11	GH11I077655	77655576	77655685	0.2	[{'connected_gene': 'CLNS1A', 'score': 0.37}, {'connected_gene': 'GC11P077625', 'score': 0.29}, {'connected_gene': 'GC11P077692', 'score': 0.28}]
chr11	GH11I077658	77658062	77658957	0.56	[{'connected_gene': 'CLNS1A', 'score': 0.34}, {'connected_gene': 'GC11P077692', 'score': 0.29}, {'connected_gene': 'GC11P077625', 'score': 0.29}]
chr11	GH11I076652	76652902	76657912	1.05	[{'connected_gene': 'LOC107984360', 'score': 588.89}, {'connected_gene': 'ENSG00000254810', 'score': 558.79}, {'connected_gene': 'ENSG00000255363', 'score': 10.95}, {'connected_gene': 'CLNS1A', 'score': 4.67}, {'connected_gene': 'LRRC32', 'score': 0.37}]
chr11	GH11I077568	77568123	77569594	0.2	[{'connected_gene': 'RNU7-59P', 'score': 550.77}, {'connected_gene': 'GC11M077567', 'score': 550.77}, {'connected_gene': 'AAMDC', 'score': 12.25}, {'connected_gene': 'LOC646029', 'score': 0.77}, {'connected_gene': 'GC11M077568', 'score': 0.31}, {'connected_gene': 'CLNS1A', 'score': 0.2}]
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	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}]