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
ENST00000231721	[[52467068, 52470089], [52471542, 52471682], [52471986, 52472215], [52472935, 52472977], [52473695, 52473787], [52473882, 52474114], [52474392, 52474537], [52474769, 52474839], [52474949, 52475064], [52475279, 52475425], [52475589, 52475706], [52475834, 52475925], [52476200, 52476320], [52476574, 52476637], [52476762, 52476923], [52478928, 52479043]]	[[52469618, 52470089], [52471542, 52471682], [52471986, 52472215], [52472935, 52472977], [52473695, 52473787], [52473882, 52474114], [52474392, 52474537], [52474769, 52474839], [52474949, 52475064], [52475279, 52475425], [52475589, 52475706], [52475834, 52475925], [52476200, 52476320], [52476574, 52476637], [52476762, 52476923], [52478928, 52479043]]
ENST00000465657	[[52474405, 52474537], [52474769, 52474839], [52474949, 52475064], [52475279, 52475425], [52475589, 52475706], [52475834, 52475925], [52476200, 52476320], [52478928, 52478985]]	[[52475675, 52475706], [52475834, 52475925], [52476200, 52476320], [52478928, 52478985]]
ENST00000475739	[[52475880, 52475925], [52476200, 52476320], [52476574, 52476637], [52476762, 52476923], [52477031, 52477085], [52478928, 52479101]]	[[52475880, 52475925], [52476200, 52476320], [52476574, 52476637], [52476762, 52476923], [52477031, 52477085], [52478928, 52479043]]
NM_020163	[[52467050, 52470089], [52471542, 52471682], [52471986, 52472215], [52472935, 52472977], [52473695, 52473787], [52473882, 52474114], [52474392, 52474537], [52474769, 52474839], [52474949, 52475064], [52475279, 52475425], [52475589, 52475706], [52475834, 52475925], [52476200, 52476320], [52476574, 52476637], [52476762, 52476923], [52478928, 52479101]]	[[52469618, 52470089], [52471542, 52471682], [52471986, 52472215], [52472935, 52472977], [52473695, 52473787], [52473882, 52474114], [52474392, 52474537], [52474769, 52474839], [52474949, 52475064], [52475279, 52475425], [52475589, 52475706], [52475834, 52475925], [52476200, 52476320], [52476574, 52476637], [52476762, 52476923], [52478928, 52479043]]

Promoter

Chrom	Start	End	Description
chr3	52479112	52479126	CAGE_peak_1_at_SEMA3G_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I052385	52385285	52385454	0.67	[{'connected_gene': 'BAP1', 'score': 12.71}, {'connected_gene': 'PHF7', 'score': 12.68}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.18}, {'connected_gene': 'LOC101929054', 'score': 11.18}, {'connected_gene': 'TWF2', 'score': 11.18}, {'connected_gene': 'ENSG00000173366', 'score': 11.18}, {'connected_gene': 'MIR135A1', 'score': 11.18}, {'connected_gene': 'TLR9', 'score': 11.18}, {'connected_gene': 'WDR82', 'score': 11.17}, {'connected_gene': 'GLYCTK', 'score': 11.17}, {'connected_gene': 'SEMA3G', 'score': 10.71}, {'connected_gene': 'PPM1M', 'score': 10.39}, {'connected_gene': 'PPP2R5CP', 'score': 0.39}, {'connected_gene': 'PIR54826', 'score': 0.34}, {'connected_gene': 'DNAH1', 'score': 0.2}]
chr3	GH03I052465	52465390	52466571	0.31	[{'connected_gene': 'NT5DC2', 'score': 20.43}, {'connected_gene': 'SEMA3G', 'score': 11.62}, {'connected_gene': 'STAB1', 'score': 11.52}, {'connected_gene': 'SMIM4', 'score': 11.39}, {'connected_gene': 'RNU6-856P', 'score': 11.08}, {'connected_gene': 'PBRM1', 'score': 10.25}, {'connected_gene': 'GNL3', 'score': 10.25}, {'connected_gene': 'ENSG00000222345', 'score': 10.25}, {'connected_gene': 'SNORD69', 'score': 10.25}, {'connected_gene': 'SNORD19B', 'score': 10.25}, {'connected_gene': 'SNORD19', 'score': 10.25}, {'connected_gene': 'ENSG00000252787', 'score': 10.25}, {'connected_gene': 'WDR82', 'score': 9.38}, {'connected_gene': 'NISCH', 'score': 0.39}, {'connected_gene': 'PIR37247', 'score': 0.34}]
chr3	GH03I052466	52466663	52469698	0.99	[{'connected_gene': 'NT5DC2', 'score': 22.13}, {'connected_gene': 'SEMA3G', 'score': 12.23}, {'connected_gene': 'STAB1', 'score': 12.01}, {'connected_gene': 'SMIM4', 'score': 11.57}, {'connected_gene': 'RNU6-856P', 'score': 11.31}, {'connected_gene': 'RNU6ATAC16P', 'score': 11.3}, {'connected_gene': 'PBRM1', 'score': 10.81}, {'connected_gene': 'GNL3', 'score': 10.8}, {'connected_gene': 'ENSG00000222345', 'score': 10.8}, {'connected_gene': 'SNORD69', 'score': 10.8}, {'connected_gene': 'SNORD19B', 'score': 10.8}, {'connected_gene': 'SNORD19', 'score': 10.8}, {'connected_gene': 'ENSG00000252787', 'score': 10.8}, {'connected_gene': 'PPM1M', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 9.74}, {'connected_gene': 'NISCH', 'score': 5.15}, {'connected_gene': 'ABHD14B', 'score': 1.67}, {'connected_gene': 'PIR37247', 'score': 0.37}]
chr3	GH03I052481	52481505	52481654	0.51	[{'connected_gene': 'NT5DC2', 'score': 21.08}, {'connected_gene': 'SMIM4', 'score': 12.04}, {'connected_gene': 'TNNC1', 'score': 11.82}, {'connected_gene': 'NISCH', 'score': 11.82}, {'connected_gene': 'SEMA3G', 'score': 11.79}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.96}, {'connected_gene': 'MIR135A1', 'score': 9.96}, {'connected_gene': 'WDR82', 'score': 9.96}, {'connected_gene': 'GLYCTK', 'score': 9.96}, {'connected_gene': 'PIR37247', 'score': 0.44}]
chr3	GH03I052470	52470372	52473296	0.68	[{'connected_gene': 'NT5DC2', 'score': 22.03}, {'connected_gene': 'PPM1M', 'score': 12.14}, {'connected_gene': 'STAB1', 'score': 12.11}, {'connected_gene': 'SEMA3G', 'score': 11.96}, {'connected_gene': 'SMIM4', 'score': 11.48}, {'connected_gene': 'RNU6-856P', 'score': 11.31}, {'connected_gene': 'RNU6ATAC16P', 'score': 11.31}, {'connected_gene': 'GNL3', 'score': 11.03}, {'connected_gene': 'ENSG00000222345', 'score': 11.03}, {'connected_gene': 'SNORD19B', 'score': 11.03}, {'connected_gene': 'SNORD19', 'score': 11.03}, {'connected_gene': 'ENSG00000252787', 'score': 11.03}, {'connected_gene': 'PBRM1', 'score': 11.03}, {'connected_gene': 'SNORD69', 'score': 11.02}, {'connected_gene': 'NISCH', 'score': 0.37}, {'connected_gene': 'PIR37247', 'score': 0.37}]
chr3	GH03I052432	52432201	52433200	0.46	[{'connected_gene': 'SEMA3G', 'score': 0.39}, {'connected_gene': 'LOC105377091', 'score': 0.39}, {'connected_gene': 'PHF7', 'score': 0.34}]
chr3	GH03I052435	52435860	52437718	0.63	[{'connected_gene': 'SEMA3G', 'score': 0.44}, {'connected_gene': 'LOC105377091', 'score': 0.44}, {'connected_gene': 'PHF7', 'score': 0.31}]
chr3	GH03I052443	52443801	52445400	1.56	[{'connected_gene': 'SEMA3G', 'score': 550.77}, {'connected_gene': 'LOC105377091', 'score': 550.77}, {'connected_gene': 'NISCH', 'score': 12.29}, {'connected_gene': 'RAD54L2', 'score': 11.36}, {'connected_gene': 'PPM1M', 'score': 10.98}, {'connected_gene': 'PBRM1', 'score': 8.14}, {'connected_gene': 'TEX264', 'score': 4.22}]
chr3	GH03I052444	52443201	52443600	0.31	[{'connected_gene': 'SEMA3G', 'score': 550.77}, {'connected_gene': 'LOC105377091', 'score': 550.77}]
chr3	GH03I052408	52408589	52412490	2.03	[{'connected_gene': 'PHF7', 'score': 550.77}, {'connected_gene': 'BAP1', 'score': 550.77}, {'connected_gene': 'SEMA3G', 'score': 12.4}, {'connected_gene': 'TNNC1', 'score': 12.37}, {'connected_gene': 'NISCH', 'score': 12.37}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.52}, {'connected_gene': 'MIR135A1', 'score': 10.51}, {'connected_gene': 'WDR82', 'score': 10.51}, {'connected_gene': 'GLYCTK', 'score': 10.51}, {'connected_gene': 'RNU6-856P', 'score': 9.87}, {'connected_gene': 'NT5DC2', 'score': 9.08}]
chr3	GH03I052412	52412794	52412853	0.61	[{'connected_gene': 'PHF7', 'score': 550.77}, {'connected_gene': 'SEMA3G', 'score': 12.4}, {'connected_gene': 'TNNC1', 'score': 12.37}, {'connected_gene': 'NISCH', 'score': 12.37}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.52}, {'connected_gene': 'GLYCTK', 'score': 10.51}, {'connected_gene': 'MIR135A1', 'score': 10.51}, {'connected_gene': 'WDR82', 'score': 10.51}, {'connected_gene': 'RNU6-856P', 'score': 9.88}, {'connected_gene': 'LOC105377091', 'score': 0.29}]
chr3	GH03I052483	52483290	52484594	0.63	[{'connected_gene': 'SMIM4', 'score': 12.04}, {'connected_gene': 'NT5DC2', 'score': 12.04}, {'connected_gene': 'TNNC1', 'score': 11.82}, {'connected_gene': 'NISCH', 'score': 11.82}, {'connected_gene': 'SEMA3G', 'score': 11.79}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.96}, {'connected_gene': 'MIR135A1', 'score': 9.96}, {'connected_gene': 'WDR82', 'score': 9.96}, {'connected_gene': 'GLYCTK', 'score': 9.96}, {'connected_gene': 'PIR37247', 'score': 0.77}]
chr3	GH03I052339	52339600	52340001	1.08	[{'connected_gene': 'DNAH1', 'score': 12.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 12.19}, {'connected_gene': 'MIR135A1', 'score': 12.17}, {'connected_gene': 'WDR82', 'score': 12.16}, {'connected_gene': 'GLYCTK', 'score': 12.16}, {'connected_gene': 'LOC101929054', 'score': 11.64}, {'connected_gene': 'TWF2', 'score': 11.64}, {'connected_gene': 'ENSG00000173366', 'score': 11.63}, {'connected_gene': 'TLR9', 'score': 11.62}, {'connected_gene': 'PPM1M', 'score': 11.38}, {'connected_gene': 'SEMA3G', 'score': 10.6}, {'connected_gene': 'PPP2R5CP', 'score': 0.29}]
chr3	GH03I052372	52372661	52374053	0.59	[{'connected_gene': 'PPP2R5CP', 'score': 550.77}, {'connected_gene': 'PPM1M', 'score': 22.72}, {'connected_gene': 'ITIH4', 'score': 19.51}, {'connected_gene': 'GLYCTK', 'score': 17.77}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.34}, {'connected_gene': 'MIR135A1', 'score': 11.33}, {'connected_gene': 'WDR82', 'score': 11.31}, {'connected_gene': 'SEMA3G', 'score': 11.27}, {'connected_gene': 'NT5DC2', 'score': 7.54}, {'connected_gene': 'DNAH1', 'score': 0.22}]
chr3	GH03I052449	52449707	52450895	1.1	[{'connected_gene': 'PPM1M', 'score': 13.53}, {'connected_gene': 'TNNC1', 'score': 0.77}, {'connected_gene': 'SEMA3G', 'score': 0.44}]
chr3	GH03I052447	52447000	52447401	1.06	[{'connected_gene': 'PPM1M', 'score': 13.68}, {'connected_gene': 'SEMA3G', 'score': 0.77}, {'connected_gene': 'LOC105377091', 'score': 0.77}, {'connected_gene': 'TNNC1', 'score': 0.44}]
chr3	GH03I052274	52274220	52291489	2.5	[{'connected_gene': 'GLYCTK', 'score': 568.52}, {'connected_gene': 'WDR82', 'score': 550.44}, {'connected_gene': 'LOC101929054', 'score': 28.2}, {'connected_gene': 'PPM1M', 'score': 28.18}, {'connected_gene': 'TWF2', 'score': 23.58}, {'connected_gene': 'ITIH4', 'score': 20.35}, {'connected_gene': 'PBRM1', 'score': 19.2}, {'connected_gene': 'ENSG00000173366', 'score': 11.39}, {'connected_gene': 'TLR9', 'score': 11.37}, {'connected_gene': 'SEMA3G', 'score': 10.74}, {'connected_gene': 'NT5DC2', 'score': 8.65}, {'connected_gene': 'RPL29', 'score': 4.61}, {'connected_gene': 'ITIH3', 'score': 4.47}, {'connected_gene': 'RFT1', 'score': 4.37}, {'connected_gene': 'NEK4', 'score': 4.18}, {'connected_gene': 'GC03P052278', 'score': 0.77}, {'connected_gene': 'GC03M052276', 'score': 0.44}, {'connected_gene': 'GC03M052275', 'score': 0.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 0.37}]
chr3	GH03I052482	52482245	52482394	0.74	[{'connected_gene': 'NISCH', 'score': 20.91}, {'connected_gene': 'SMIM4', 'score': 12.04}, {'connected_gene': 'NT5DC2', 'score': 12.04}, {'connected_gene': 'TNNC1', 'score': 11.82}, {'connected_gene': 'SEMA3G', 'score': 11.79}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.96}, {'connected_gene': 'MIR135A1', 'score': 9.96}, {'connected_gene': 'WDR82', 'score': 9.96}, {'connected_gene': 'GLYCTK', 'score': 9.96}, {'connected_gene': 'PIR37247', 'score': 0.44}]
chr3	GH03I052552	52552127	52552892	0.31	[{'connected_gene': 'RNU6-856P', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 39.07}, {'connected_gene': 'STAB1', 'score': 10.86}, {'connected_gene': 'GNL3', 'score': 10.13}, {'connected_gene': 'ENSG00000222345', 'score': 10.12}, {'connected_gene': 'SNORD19B', 'score': 10.12}, {'connected_gene': 'SNORD19', 'score': 10.12}, {'connected_gene': 'ENSG00000252787', 'score': 10.12}, {'connected_gene': 'SNORD69', 'score': 10.11}, {'connected_gene': 'SEMA3G', 'score': 9.72}, {'connected_gene': 'ITIH1', 'score': 5.28}, {'connected_gene': 'PIR44914', 'score': 0.77}, {'connected_gene': 'SMIM4', 'score': 0.37}]