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
ENST00000312917	[[36210979, 36211038], [36259096, 36259329], [36260837, 36260903], [36261939, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275531]]	[[36259176, 36259329], [36260837, 36260903], [36261939, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]
ENST00000388715	[[36210979, 36211038], [36259096, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36276372]]	[[36259176, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]
ENST00000457797	[[36238236, 36238441], [36259096, 36259332], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]	[[36238236, 36238441], [36259096, 36259332], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]
ENST00000394571	[[36238236, 36238441], [36259096, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36276372]]	[[36238236, 36238441], [36259096, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]
NM_173676	[[36210944, 36211038], [36259096, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36276372]]	[[36259176, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]
NM_001145716	[[36210944, 36211038], [36259096, 36259329], [36260837, 36260903], [36261939, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36276372]]	[[36259176, 36259329], [36260837, 36260903], [36261939, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]
NM_001145717	[[36238236, 36238441], [36259096, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36276372]]	[[36238236, 36238441], [36259096, 36259329], [36260837, 36260903], [36261966, 36262176], [36263140, 36263201], [36269637, 36270246], [36274068, 36274153], [36275363, 36275493]]

Promoter

Chrom	Start	End	Description
chr6	36210772	36210775	CAGE_peak_1_at_PNPLA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I036302	36302401	36303000	1.15	[{'connected_gene': 'SRSF3', 'score': 17.94}, {'connected_gene': 'ENSG00000219023', 'score': 14.36}, {'connected_gene': 'RPL10A', 'score': 13.22}, {'connected_gene': 'C6orf222', 'score': 12.22}, {'connected_gene': 'PNPLA1', 'score': 10.72}, {'connected_gene': 'MAPK13', 'score': 10.5}, {'connected_gene': 'MAPK14', 'score': 9.79}, {'connected_gene': 'RAB44', 'score': 9.48}, {'connected_gene': 'SLC26A8', 'score': 9.31}, {'connected_gene': 'LOC105375036', 'score': 0.23}]
chr6	GH06I036209	36209719	36211096	0.38	[{'connected_gene': 'MAPK13', 'score': 20.63}, {'connected_gene': 'PNPLA1', 'score': 11.34}, {'connected_gene': 'GC06M038601', 'score': 0.44}, {'connected_gene': 'BRPF3', 'score': 0.39}]
chr6	GH06I036436	36436472	36436691	0.57	[{'connected_gene': 'ETV7', 'score': 10.65}, {'connected_gene': 'LOC105375037', 'score': 10.63}, {'connected_gene': 'PI16', 'score': 10.17}, {'connected_gene': 'KCTD20', 'score': 9.4}, {'connected_gene': 'STK38', 'score': 4.29}, {'connected_gene': 'MAPK14', 'score': 3.98}, {'connected_gene': 'PNPLA1', 'score': 3.6}, {'connected_gene': 'PXT1', 'score': 0.44}]
chr6	GH06I036289	36289304	36289453	0.49	[{'connected_gene': 'C6orf222', 'score': 11.35}, {'connected_gene': 'MAPK13', 'score': 10.65}, {'connected_gene': 'LOC105375036', 'score': 0.26}, {'connected_gene': 'PNPLA1', 'score': 0.25}]
chr6	GH06I036291	36289584	36289733	0.57	[{'connected_gene': 'C6orf222', 'score': 11.35}, {'connected_gene': 'MAPK13', 'score': 10.65}, {'connected_gene': 'LOC105375036', 'score': 0.26}, {'connected_gene': 'PNPLA1', 'score': 0.25}]
chr6	GH06I036357	36357805	36359250	1.51	[{'connected_gene': 'C6orf222', 'score': 13.3}, {'connected_gene': 'ETV7', 'score': 11.35}, {'connected_gene': 'LOC105375037', 'score': 11.35}, {'connected_gene': 'FGD2', 'score': 10.9}, {'connected_gene': 'MAPK13', 'score': 10.7}, {'connected_gene': 'PXT1', 'score': 10.3}, {'connected_gene': 'KCTD20', 'score': 10.3}, {'connected_gene': 'PNPLA1', 'score': 10.21}, {'connected_gene': 'CPNE5', 'score': 1.35}, {'connected_gene': 'PIR35042', 'score': 0.77}]
chr6	GH06I036364	36364533	36366056	1	[{'connected_gene': 'C6orf222', 'score': 13.27}, {'connected_gene': 'ETV7', 'score': 11.38}, {'connected_gene': 'LOC105375037', 'score': 11.38}, {'connected_gene': 'MAPK13', 'score': 10.6}, {'connected_gene': 'PXT1', 'score': 10.31}, {'connected_gene': 'KCTD20', 'score': 10.31}, {'connected_gene': 'LOC102723648', 'score': 10.28}, {'connected_gene': 'BRPF3', 'score': 10.28}, {'connected_gene': 'PNPLA1', 'score': 10.21}, {'connected_gene': 'SLC26A8', 'score': 9.51}, {'connected_gene': 'PIR35042', 'score': 0.44}]
chr6	GH06I036360	36360108	36361193	1.23	[{'connected_gene': 'C6orf222', 'score': 13.3}, {'connected_gene': 'ETV7', 'score': 11.35}, {'connected_gene': 'LOC105375037', 'score': 11.35}, {'connected_gene': 'PXT1', 'score': 10.3}, {'connected_gene': 'KCTD20', 'score': 10.3}, {'connected_gene': 'PNPLA1', 'score': 10.21}, {'connected_gene': 'PIR35042', 'score': 0.77}]
chr6	GH06I036290	36289844	36292859	1.1	[{'connected_gene': 'C6orf222', 'score': 11.87}, {'connected_gene': 'PNPLA1', 'score': 11.4}, {'connected_gene': 'CLPS', 'score': 9.63}, {'connected_gene': 'BRPF3', 'score': 5.01}, {'connected_gene': 'MAPK13', 'score': 4.34}, {'connected_gene': 'LOC105375036', 'score': 0.26}]
chr6	GH06I036269	36269801	36270000	0.49	[{'connected_gene': 'C6orf222', 'score': 11.02}, {'connected_gene': 'SLC26A8', 'score': 10.3}, {'connected_gene': 'LOC105375036', 'score': 0.34}, {'connected_gene': 'PNPLA1', 'score': 0.29}]
chr6	GH06I036308	36308891	36309917	0.95	[{'connected_gene': 'C6orf222', 'score': 1.6}, {'connected_gene': 'LOC105375036', 'score': 0.21}, {'connected_gene': 'PNPLA1', 'score': 0.2}]
chr6	GH06I036204	36204164	36204600	0.77	[{'connected_gene': 'PNPLA1', 'score': 10.74}, {'connected_gene': 'GC06M038601', 'score': 0.77}, {'connected_gene': 'BRPF3', 'score': 0.44}]
chr6	GH06I036296	36296942	36298040	0.84	[{'connected_gene': 'BRPF3', 'score': 12.92}, {'connected_gene': 'MAPK13', 'score': 12.02}, {'connected_gene': 'C6orf222', 'score': 11.47}, {'connected_gene': 'PNPLA1', 'score': 10.74}, {'connected_gene': 'LOC105375037', 'score': 10.68}, {'connected_gene': 'ETV7', 'score': 10.67}, {'connected_gene': 'LOC102723648', 'score': 10.45}, {'connected_gene': 'SLC26A8', 'score': 10.11}, {'connected_gene': 'SRPK1', 'score': 9.2}, {'connected_gene': 'CDKN1A', 'score': 6.36}, {'connected_gene': 'KCTD20', 'score': 3.94}, {'connected_gene': 'SRSF3', 'score': 2.86}, {'connected_gene': 'PXT1', 'score': 2.21}, {'connected_gene': 'LOC105375036', 'score': 0.25}]
chr6	GH06I036237	36237051	36237383	0.28	[{'connected_gene': 'BRPF3', 'score': 12.1}, {'connected_gene': 'LOC102723648', 'score': 10.35}, {'connected_gene': 'CDKN1A', 'score': 5.33}, {'connected_gene': 'KCTD20', 'score': 3.07}, {'connected_gene': 'SRSF3', 'score': 1.7}, {'connected_gene': 'PXT1', 'score': 1.21}, {'connected_gene': 'PNPLA1', 'score': 0.77}, {'connected_gene': 'GC06M038601', 'score': 0.28}]
chr6	GH06I036244	36244536	36246199	0.88	[{'connected_gene': 'SLC26A8', 'score': 9.59}, {'connected_gene': 'LOC105375036', 'score': 0.77}, {'connected_gene': 'PNPLA1', 'score': 0.44}]
chr6	GH06I036246	36246265	36249858	1.08	[{'connected_gene': 'LOC105375036', 'score': 550.77}, {'connected_gene': 'PXT1', 'score': 19.37}, {'connected_gene': 'LOC102723648', 'score': 17.58}, {'connected_gene': 'BRPF3', 'score': 13.59}, {'connected_gene': 'C6orf222', 'score': 10.86}, {'connected_gene': 'SLC26A8', 'score': 9.92}, {'connected_gene': 'MAPK13', 'score': 8.8}, {'connected_gene': 'MAPK14', 'score': 6.33}, {'connected_gene': 'SRPK1', 'score': 4.72}, {'connected_gene': 'KCTD20', 'score': 3.09}, {'connected_gene': 'STK38', 'score': 1.54}, {'connected_gene': 'PNPLA1', 'score': 0.44}]
chr6	GH06I036216	36216451	36221838	0.74	[{'connected_gene': 'LOC102723648', 'score': 29.16}, {'connected_gene': 'MAPK13', 'score': 21.07}, {'connected_gene': 'PNPLA1', 'score': 12.44}, {'connected_gene': 'BRPF3', 'score': 11.54}, {'connected_gene': 'C6orf222', 'score': 10.99}, {'connected_gene': 'SLC26A8', 'score': 10.06}, {'connected_gene': 'GC06M038601', 'score': 0.37}]
chr6	GH06I036227	36227411	36231538	0.62	[{'connected_gene': 'LOC102723648', 'score': 29.53}, {'connected_gene': 'MAPK13', 'score': 20.16}, {'connected_gene': 'BRPF3', 'score': 11.5}, {'connected_gene': 'SLC26A8', 'score': 10.06}, {'connected_gene': 'SRPK1', 'score': 9.21}, {'connected_gene': 'PNPLA1', 'score': 0.39}, {'connected_gene': 'GC06M038601', 'score': 0.31}]
chr6	GH06I036224	36224412	36226824	0.82	[{'connected_gene': 'LOC102723648', 'score': 29.52}, {'connected_gene': 'MAPK13', 'score': 20.39}, {'connected_gene': 'BRPF3', 'score': 11.51}, {'connected_gene': 'SLC26A8', 'score': 10.06}, {'connected_gene': 'PNPLA1', 'score': 0.39}, {'connected_gene': 'GC06M038601', 'score': 0.34}]
chr6	GH06I036241	36241401	36242400	0.7	[{'connected_gene': 'LOC102723648', 'score': 17.59}, {'connected_gene': 'BRPF3', 'score': 10.33}, {'connected_gene': 'MAPK13', 'score': 9.44}, {'connected_gene': 'PNPLA1', 'score': 0.77}, {'connected_gene': 'LOC105375036', 'score': 0.44}]
chr6	GH06I036235	36235301	36235568	0.22	[{'connected_gene': 'LOC102723648', 'score': 16.39}, {'connected_gene': 'BRPF3', 'score': 10.36}, {'connected_gene': 'CDKN1A', 'score': 1.29}, {'connected_gene': 'PNPLA1', 'score': 0.77}, {'connected_gene': 'GC06M038601', 'score': 0.29}]