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
ENST00000375650	[[31795511, 31798031]]	[[31795727, 31797653]]
ENST00000545241	[[31795727, 31795802], [31796033, 31796039], [31796081, 31797653]]	[[31795727, 31795802], [31796033, 31796039], [31796081, 31797653]]
NM_005346	[[31795511, 31798031]]	[[31795727, 31797653]]
NM_005346	[[3110275, 3112789]]	[[3110491, 3112417]]
NM_005346	[[3305093, 3307616]]	[[3305309, 3307235]]
NM_005346	[[3081098, 3083618]]	[[3081314, 3083240]]
NM_005346	[[3089162, 3091686]]	[[3089378, 3091304]]

Promoter

Chrom	Start	End	Description
chr6	31783311	31783328	CAGE_peak_1_at_HSPA1A_5end,CAGE_peak_1_at_HSPA1B_5end
chr6	31795158	31795173	CAGE_peak_12_at_HSPA1B_5end,CAGE_peak_4_at_HSPA1A_5end
chr6	31795506	31795525	CAGE_peak_2_at_HSPA1A_5end,CAGE_peak_2_at_HSPA1B_5end
chr6	31797613	31797631	CAGE_peak_7_at_HSPA1B_5end
chr6	31797644	31797684	CAGE_peak_4_at_HSPA1B_5end
chr6	31797703	31797718	CAGE_peak_10_at_HSPA1B_5end
chr6	31797719	31797797	CAGE_peak_3_at_HSPA1B_5end
chr6	31797806	31797840	CAGE_peak_5_at_HSPA1B_5end
chr6	31797843	31797856	CAGE_peak_9_at_HSPA1B_5end
chr6	31797870	31797898	CAGE_peak_6_at_HSPA1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I031567	31567298	31589539	2.76	[{'connected_gene': 'TNF', 'score': 637.63}, {'connected_gene': 'LST1', 'score': 556.56}, {'connected_gene': 'GC06P032075', 'score': 550.77}, {'connected_gene': 'GC06P031961', 'score': 550.77}, {'connected_gene': 'GC06P031586', 'score': 550.77}, {'connected_gene': 'GC06P031681', 'score': 550.77}, {'connected_gene': 'GC06P031613', 'score': 550.77}, {'connected_gene': 'GC06P031587', 'score': 550.77}, {'connected_gene': 'GC06P032071', 'score': 550.77}, {'connected_gene': 'GC06P031994', 'score': 550.77}, {'connected_gene': 'GC06P031598', 'score': 550.77}, {'connected_gene': 'GC06P031618', 'score': 550.77}, {'connected_gene': 'GC06P031616', 'score': 550.77}, {'connected_gene': 'GC06P031772', 'score': 550.77}, {'connected_gene': 'GC06P031585', 'score': 550.77}, {'connected_gene': 'GC06P031612', 'score': 550.77}, {'connected_gene': 'GC06P031599', 'score': 550.77}, {'connected_gene': 'LTB', 'score': 550.77}, {'connected_gene': 'GC06P031751', 'score': 550.77}, {'connected_gene': 'GC06P031932', 'score': 550.77}, {'connected_gene': 'LTA', 'score': 550.37}, {'connected_gene': 'DDX39B', 'score': 68.7}, {'connected_gene': 'LY6G5B', 'score': 36.47}, {'connected_gene': 'ATF6B', 'score': 26.5}, {'connected_gene': 'RPL3P2', 'score': 22.93}, {'connected_gene': 'LSM2', 'score': 22.86}, {'connected_gene': 'MICB', 'score': 22.2}, {'connected_gene': 'PPT2', 'score': 21.87}, {'connected_gene': 'C6orf47', 'score': 21.49}, {'connected_gene': 'NFKBIL1', 'score': 21.45}, {'connected_gene': 'TNXB', 'score': 21.17}, {'connected_gene': 'TCF19', 'score': 20.91}, {'connected_gene': 'MICA', 'score': 20.26}, {'connected_gene': 'MDC1', 'score': 20.16}, {'connected_gene': 'HLA-C', 'score': 17.48}, {'connected_gene': 'PPP1R10', 'score': 13.47}, {'connected_gene': 'ATP6V1G2', 'score': 13.13}, {'connected_gene': 'DHX16', 'score': 13.11}, {'connected_gene': 'UQCRHP1', 'score': 13.07}, {'connected_gene': 'SKIV2L', 'score': 13.06}, {'connected_gene': 'AIF1', 'score': 13.05}, {'connected_gene': 'DDX39B-AS1', 'score': 11.92}, {'connected_gene': 'SNORD117', 'score': 11.46}, {'connected_gene': 'APOM', 'score': 11.07}, {'connected_gene': 'ENSG00000201207', 'score': 11.05}, {'connected_gene': 'BAG6', 'score': 11.05}, {'connected_gene': 'MCCD1', 'score': 11.03}, {'connected_gene': 'RPL15P4', 'score': 11.02}, {'connected_gene': 'PPIAP9', 'score': 11.01}, {'connected_gene': 'PBX2', 'score': 10.75}, {'connected_gene': 'NRM', 'score': 10.62}, {'connected_gene': 'ENSG00000199332', 'score': 10.28}, {'connected_gene': 'EGFL8', 'score': 10.23}, {'connected_gene': 'ATAT1', 'score': 10.22}, {'connected_gene': 'GPANK1', 'score': 10.15}, {'connected_gene': 'CSNK2B', 'score': 10.15}, {'connected_gene': 'C4A', 'score': 10.04}, {'connected_gene': 'MICA-AS1', 'score': 7.51}, {'connected_gene': 'POU5F1', 'score': 6.34}, {'connected_gene': 'ENSG00000271581', 'score': 5.55}, {'connected_gene': 'HCG23', 'score': 5.43}, {'connected_gene': 'CYP21A2', 'score': 5.39}, {'connected_gene': 'AGER', 'score': 5.36}, {'connected_gene': 'HLA-B', 'score': 4.94}, {'connected_gene': 'HCP5', 'score': 4.17}, {'connected_gene': 'ENSG00000272501', 'score': 4.03}, {'connected_gene': 'STK19', 'score': 2.0}, {'connected_gene': 'NEU1', 'score': 1.54}, {'connected_gene': 'HSPA1B', 'score': 1.45}, {'connected_gene': 'CLIC1', 'score': 1.37}, {'connected_gene': 'HSPA1A', 'score': 1.34}, {'connected_gene': 'LOC100287329', 'score': 0.44}, {'connected_gene': 'NCR3', 'score': 0.39}]
chr6	GH06I031813	31813064	31838688	2.61	[{'connected_gene': 'C6orf48', 'score': 560.42}, {'connected_gene': 'HSPA1B', 'score': 558.22}, {'connected_gene': 'HSPA1A', 'score': 557.56}, {'connected_gene': 'HSPA1L', 'score': 554.6}, {'connected_gene': 'GC06P032039', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 113.91}, {'connected_gene': 'DDX39B', 'score': 111.43}, {'connected_gene': 'LY6G5B', 'score': 91.72}, {'connected_gene': 'LSM2', 'score': 73.12}, {'connected_gene': 'BAG6', 'score': 65.65}, {'connected_gene': 'SKIV2L', 'score': 64.04}, {'connected_gene': 'CSNK2B', 'score': 63.59}, {'connected_gene': 'GPANK1', 'score': 57.28}, {'connected_gene': 'PBX2', 'score': 57.01}, {'connected_gene': 'MSH5', 'score': 50.71}, {'connected_gene': 'VARS', 'score': 45.74}, {'connected_gene': 'GTF2H4', 'score': 37.88}, {'connected_gene': 'C6orf47', 'score': 34.21}, {'connected_gene': 'CCHCR1', 'score': 33.69}, {'connected_gene': 'RPL3P2', 'score': 32.71}, {'connected_gene': 'TCF19', 'score': 31.93}, {'connected_gene': 'NFKBIL1', 'score': 31.47}, {'connected_gene': 'MICA', 'score': 29.67}, {'connected_gene': 'LY6G6C', 'score': 24.72}, {'connected_gene': 'DXO', 'score': 24.71}, {'connected_gene': 'VWA7', 'score': 22.05}, {'connected_gene': 'STK19B', 'score': 20.59}, {'connected_gene': 'C4A', 'score': 20.2}, {'connected_gene': 'HLA-DRB1', 'score': 19.24}, {'connected_gene': 'PPT2', 'score': 18.25}, {'connected_gene': 'HLA-C', 'score': 16.42}, {'connected_gene': 'LY6G5C', 'score': 16.14}, {'connected_gene': 'HLA-DQA2', 'score': 14.0}, {'connected_gene': 'HLA-DQB2', 'score': 13.77}, {'connected_gene': 'MICB', 'score': 13.2}, {'connected_gene': 'SAPCD1', 'score': 11.69}, {'connected_gene': 'SAPCD1-AS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201555', 'score': 11.66}, {'connected_gene': 'MSH5-SAPCD1', 'score': 11.65}, {'connected_gene': 'ENSG00000201207', 'score': 11.51}, {'connected_gene': 'RNU6-850P', 'score': 11.16}, {'connected_gene': 'NELFE', 'score': 10.88}, {'connected_gene': 'DDAH2', 'score': 10.86}, {'connected_gene': 'MPIG6B', 'score': 10.85}, {'connected_gene': 'LY6G6E', 'score': 10.84}, {'connected_gene': 'ENSG00000204422', 'score': 10.84}, {'connected_gene': 'LY6G6D', 'score': 10.84}, {'connected_gene': 'HLA-DOB', 'score': 10.61}, {'connected_gene': 'STK19', 'score': 10.51}, {'connected_gene': 'LTB', 'score': 10.17}, {'connected_gene': 'SNORD117', 'score': 10.13}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'VARS2', 'score': 9.82}, {'connected_gene': 'CLIC1', 'score': 9.81}, {'connected_gene': 'AGER', 'score': 6.22}, {'connected_gene': 'HLA-DRB5', 'score': 5.65}, {'connected_gene': 'TNF', 'score': 2.34}, {'connected_gene': 'NEU1', 'score': 1.62}, {'connected_gene': 'PIR48823', 'score': 0.77}, {'connected_gene': 'SNORD48', 'score': 0.44}, {'connected_gene': 'GC06P032041', 'score': 0.44}, {'connected_gene': 'GC06P032038', 'score': 0.39}, {'connected_gene': 'PIR57926', 'score': 0.39}, {'connected_gene': 'SNORD52', 'score': 0.39}, {'connected_gene': 'GC06P032040', 'score': 0.39}]
chr6	GH06I031733	31733220	31741689	2.72	[{'connected_gene': 'MSH5', 'score': 604.02}, {'connected_gene': 'CLIC1', 'score': 559.22}, {'connected_gene': 'DDX39B', 'score': 106.6}, {'connected_gene': 'LY6G5B', 'score': 102.51}, {'connected_gene': 'ATF6B', 'score': 92.91}, {'connected_gene': 'LSM2', 'score': 79.87}, {'connected_gene': 'CSNK2B', 'score': 72.29}, {'connected_gene': 'SKIV2L', 'score': 68.8}, {'connected_gene': 'GPANK1', 'score': 56.74}, {'connected_gene': 'BAG6', 'score': 52.9}, {'connected_gene': 'PBX2', 'score': 51.74}, {'connected_gene': 'NFKBIL1', 'score': 49.46}, {'connected_gene': 'VARS', 'score': 47.52}, {'connected_gene': 'CCHCR1', 'score': 42.83}, {'connected_gene': 'TCF19', 'score': 41.5}, {'connected_gene': 'GTF2H4', 'score': 38.05}, {'connected_gene': 'MICA', 'score': 37.35}, {'connected_gene': 'LY6G5C', 'score': 33.77}, {'connected_gene': 'C6orf47', 'score': 32.5}, {'connected_gene': 'RPL3P2', 'score': 31.35}, {'connected_gene': 'SAPCD1', 'score': 23.38}, {'connected_gene': 'ABHD16A', 'score': 22.21}, {'connected_gene': 'PPT2', 'score': 21.82}, {'connected_gene': 'TNXB', 'score': 21.38}, {'connected_gene': 'NELFE', 'score': 21.11}, {'connected_gene': 'C4A', 'score': 20.11}, {'connected_gene': 'DXO', 'score': 19.38}, {'connected_gene': 'HSPA1L', 'score': 16.48}, {'connected_gene': 'HLA-C', 'score': 14.71}, {'connected_gene': 'STK19', 'score': 14.58}, {'connected_gene': 'MICB', 'score': 14.42}, {'connected_gene': 'LY6G6C', 'score': 14.12}, {'connected_gene': 'HSPA1A', 'score': 12.66}, {'connected_gene': 'ENSG00000204422', 'score': 12.39}, {'connected_gene': 'LY6G6E', 'score': 12.39}, {'connected_gene': 'LY6G6D', 'score': 12.39}, {'connected_gene': 'SAPCD1-AS1', 'score': 12.13}, {'connected_gene': 'VWA7', 'score': 12.1}, {'connected_gene': 'ENSG00000201555', 'score': 11.61}, {'connected_gene': 'HLA-B', 'score': 11.55}, {'connected_gene': 'HLA-DRB1', 'score': 11.23}, {'connected_gene': 'ENSG00000201207', 'score': 10.89}, {'connected_gene': 'EGFL8', 'score': 10.25}, {'connected_gene': 'FKBPL', 'score': 9.92}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'GPSM3', 'score': 6.67}, {'connected_gene': 'LST1', 'score': 4.77}, {'connected_gene': 'MPIG6B', 'score': 4.67}, {'connected_gene': 'ATP6V1G2', 'score': 4.22}, {'connected_gene': 'NEU1', 'score': 3.64}, {'connected_gene': 'TNF', 'score': 3.54}, {'connected_gene': 'AGPAT1', 'score': 3.26}, {'connected_gene': 'AIF1', 'score': 2.41}, {'connected_gene': 'HSPA1B', 'score': 1.44}, {'connected_gene': 'LOC105375020', 'score': 0.77}, {'connected_gene': 'MSH5-SAPCD1', 'score': 0.77}, {'connected_gene': 'DDAH2', 'score': 0.44}]
chr6	GH06I031562	31562045	31562434	0.76	[{'connected_gene': 'LTA', 'score': 550.77}, {'connected_gene': 'TNF', 'score': 43.02}, {'connected_gene': 'ATP6V1G2', 'score': 13.2}, {'connected_gene': 'STK19', 'score': 1.59}, {'connected_gene': 'HLA-B', 'score': 1.54}, {'connected_gene': 'LST1', 'score': 1.53}, {'connected_gene': 'HSPA1B', 'score': 1.19}, {'connected_gene': 'LOC100287329', 'score': 0.39}]