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
ENST00000368575	[[153954126, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153958588, 153958828]]	[[153954574, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153958588, 153958712]]
ENST00000462680	[[153954129, 153956057], [153957196, 153957257], [153958588, 153958722]]	None
ENST00000495720	[[153954536, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153958492, 153958834]]	None
ENST00000484297	[[153955220, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153957459, 153957838]]	None
NM_001272038	[[153954092, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153957459, 153957842]]	[[153954574, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153955999]]
NR_073553	[[153954092, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153958492, 153958853]]	None
NM_002870	[[153954092, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153958588, 153958853]]	[[153954574, 153954652], [153954866, 153954920], [153955010, 153955076], [153955194, 153955284], [153955694, 153955772], [153955996, 153956057], [153957196, 153957257], [153958588, 153958712]]

Promoter

Chrom	Start	End	Description
chr1	153957852	153957877	CAGE_peak_6_at_RAB13_5end
chr1	153958736	153958747	CAGE_peak_4_at_RAB13_5end
chr1	153958755	153958762	CAGE_peak_5_at_RAB13_5end
chr1	153958766	153958802	CAGE_peak_2_at_RAB13_5end
chr1	153958805	153958827	CAGE_peak_1_at_RAB13_5end
chr1	153958841	153958858	CAGE_peak_3_at_RAB13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I153816	153816017	153816953	0.31	[{'connected_gene': 'DENND4B', 'score': 14.94}, {'connected_gene': 'CREB3L4', 'score': 11.55}, {'connected_gene': 'SLC39A1', 'score': 11.55}, {'connected_gene': 'JTB', 'score': 11.54}, {'connected_gene': 'GATAD2B', 'score': 11.44}, {'connected_gene': 'RAB13', 'score': 10.94}, {'connected_gene': 'RPL34P5', 'score': 10.94}, {'connected_gene': 'RPS27', 'score': 10.94}, {'connected_gene': 'CRTC2', 'score': 10.83}, {'connected_gene': 'NPR1', 'score': 10.01}, {'connected_gene': 'ENSG00000233222', 'score': 9.9}, {'connected_gene': 'ENSG00000243613', 'score': 9.89}, {'connected_gene': 'LOC105371448', 'score': 0.37}, {'connected_gene': 'PIR50903', 'score': 0.31}]
chr1	GH01I153880	153880180	153882926	1.14	[{'connected_gene': 'UBAP2L', 'score': 29.28}, {'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'ENSG00000272654', 'score': 24.14}, {'connected_gene': 'INTS3', 'score': 23.63}, {'connected_gene': 'ATP8B2', 'score': 21.66}, {'connected_gene': 'GATAD2B', 'score': 11.25}, {'connected_gene': 'CRTC2', 'score': 11.24}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.87}, {'connected_gene': 'CHTOP', 'score': 9.99}, {'connected_gene': 'ENSG00000233222', 'score': 9.73}, {'connected_gene': 'ENSG00000243613', 'score': 9.72}, {'connected_gene': 'HAX1', 'score': 9.36}, {'connected_gene': 'SNORA58B', 'score': 9.31}, {'connected_gene': 'RAB13', 'score': 5.72}, {'connected_gene': 'ENSG00000236327', 'score': 0.44}, {'connected_gene': 'LOC645965', 'score': 0.31}]
chr1	GH01I154320	154320553	154322358	1.67	[{'connected_gene': 'AQP10', 'score': 556.79}, {'connected_gene': 'NUP210L', 'score': 13.25}, {'connected_gene': 'ADAR', 'score': 9.69}, {'connected_gene': 'ATP8B2', 'score': 9.53}, {'connected_gene': 'RAB13', 'score': 4.38}]
chr1	GH01I153984	153984482	153987861	2	[{'connected_gene': 'RAB13', 'score': 550.77}, {'connected_gene': 'S100A4', 'score': 12.02}, {'connected_gene': 'ILF2', 'score': 10.78}, {'connected_gene': 'CHTOP', 'score': 10.77}, {'connected_gene': 'S100A16', 'score': 10.75}, {'connected_gene': 'CREB3L4', 'score': 10.25}, {'connected_gene': 'CKS1B', 'score': 10.08}, {'connected_gene': 'S100A3', 'score': 9.78}, {'connected_gene': 'HAX1', 'score': 4.36}, {'connected_gene': 'GC01P153977', 'score': 0.44}]
chr1	GH01I153821	153821445	153821554	0.64	[{'connected_gene': 'GATAD2B', 'score': 11.58}, {'connected_gene': 'DENND4B', 'score': 11.54}, {'connected_gene': 'CRTC2', 'score': 11.37}, {'connected_gene': 'RPS27', 'score': 11.28}, {'connected_gene': 'RAB13', 'score': 11.27}, {'connected_gene': 'RPL34P5', 'score': 11.27}, {'connected_gene': 'CREB3L4', 'score': 10.88}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.88}, {'connected_gene': 'UBAP2L', 'score': 9.81}, {'connected_gene': 'SNORA58B', 'score': 9.81}, {'connected_gene': 'ENSG00000233222', 'score': 9.54}, {'connected_gene': 'ENSG00000243613', 'score': 9.53}, {'connected_gene': 'INTS3', 'score': 9.5}, {'connected_gene': 'TPM3', 'score': 9.21}, {'connected_gene': 'MIR190B', 'score': 9.21}, {'connected_gene': 'PIR50903', 'score': 0.34}, {'connected_gene': 'LOC105371448', 'score': 0.34}]
chr1	GH01I153961	153961304	153965286	2.58	[{'connected_gene': 'SLC39A1', 'score': 550.77}, {'connected_gene': 'MIR6737', 'score': 550.77}, {'connected_gene': 'ENSG00000282386', 'score': 550.77}, {'connected_gene': 'ILF2', 'score': 21.53}, {'connected_gene': 'CREB3L4', 'score': 15.32}, {'connected_gene': 'UBAP2L', 'score': 12.02}, {'connected_gene': 'RAB13', 'score': 11.96}, {'connected_gene': 'RPS27', 'score': 11.93}, {'connected_gene': 'RPL34P5', 'score': 11.91}, {'connected_gene': 'GATAD2B', 'score': 11.21}, {'connected_gene': 'HAX1', 'score': 8.42}, {'connected_gene': 'C1orf189', 'score': 8.26}, {'connected_gene': 'JTB', 'score': 1.66}, {'connected_gene': 'S100A16', 'score': 1.59}, {'connected_gene': 'SNAPIN', 'score': 1.5}]
chr1	GH01I153955	153955767	153960833	2.27	[{'connected_gene': 'CRTC2', 'score': 563.49}, {'connected_gene': 'NUP210L', 'score': 25.43}, {'connected_gene': 'UBAP2L', 'score': 15.78}, {'connected_gene': 'SLC27A3', 'score': 12.86}, {'connected_gene': 'ILF2', 'score': 12.82}, {'connected_gene': 'INTS3', 'score': 12.15}, {'connected_gene': 'CREB3L4', 'score': 10.73}, {'connected_gene': 'CHTOP', 'score': 9.92}, {'connected_gene': 'RAB13', 'score': 5.78}, {'connected_gene': 'SLC39A1', 'score': 0.44}, {'connected_gene': 'DENND4B', 'score': 0.39}]
chr1	GH01I153779	153779273	153781350	0.65	[{'connected_gene': 'ENSG00000233222', 'score': 11.22}, {'connected_gene': 'ENSG00000243613', 'score': 11.22}, {'connected_gene': 'INTS3', 'score': 11.14}, {'connected_gene': 'NPR1', 'score': 11.07}, {'connected_gene': 'ILF2', 'score': 10.76}, {'connected_gene': 'RAB13', 'score': 10.53}, {'connected_gene': 'RPL34P5', 'score': 10.53}, {'connected_gene': 'GATAD2B', 'score': 10.53}, {'connected_gene': 'RPS27', 'score': 10.53}, {'connected_gene': 'HAX1', 'score': 6.63}, {'connected_gene': 'S100A16', 'score': 6.13}, {'connected_gene': 'ENSG00000273026', 'score': 6.0}, {'connected_gene': 'ENSG00000272030', 'score': 5.08}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'SLC27A3', 'score': 0.44}]
chr1	GH01I153888	153888093	153889186	0.74	[{'connected_gene': 'ENSG00000236327', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 11.63}, {'connected_gene': 'CREB3L4', 'score': 11.03}, {'connected_gene': 'SLC39A1', 'score': 11.03}, {'connected_gene': 'DENND4B', 'score': 10.97}, {'connected_gene': 'CRTC2', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.8}, {'connected_gene': 'RAB13', 'score': 10.57}, {'connected_gene': 'RPS27', 'score': 10.56}, {'connected_gene': 'RPL34P5', 'score': 10.56}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'NPR1', 'score': 9.82}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.21}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.25}, {'connected_gene': 'LOC645965', 'score': 0.28}]
chr1	GH01I154167	154167529	154168295	0.2	[{'connected_gene': 'GC01M154167', 'score': 550.77}, {'connected_gene': 'RN7SL431P', 'score': 550.77}, {'connected_gene': 'TPM3', 'score': 11.0}, {'connected_gene': 'MIR190B', 'score': 11.0}, {'connected_gene': 'C1orf189', 'score': 10.84}, {'connected_gene': 'UBAP2L', 'score': 10.83}, {'connected_gene': 'SNORA58B', 'score': 10.76}, {'connected_gene': 'RPS27', 'score': 10.72}, {'connected_gene': 'RPL34P5', 'score': 10.72}, {'connected_gene': 'RAB13', 'score': 10.71}, {'connected_gene': 'C1orf43', 'score': 10.47}]