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
ENST00000376773	[[30034485, 30034786], [30036366, 30036475], [30036880, 30038110]]	[[30036453, 30036475], [30036880, 30037083]]
ENST00000376772	[[30034864, 30035256], [30036366, 30036475], [30036880, 30038110]]	[[30035187, 30035256], [30036366, 30036475], [30036880, 30037083]]
ENST00000376769	[[30034981, 30035256], [30036055, 30036130], [30036366, 30036475], [30036880, 30038110]]	[[30036453, 30036475], [30036880, 30037083]]
ENST00000376765	[[30035319, 30035441], [30036055, 30036130], [30036366, 30036475], [30036880, 30038110]]	[[30036453, 30036475], [30036880, 30037083]]
ENST00000376763	[[30035352, 30035402], [30036055, 30036130], [30036366, 30036475], [30036880, 30038110]]	[[30036453, 30036475], [30036880, 30037083]]
ENST00000376758	[[30035982, 30036475], [30036880, 30038110]]	[[30036453, 30036475], [30036880, 30037083]]
NM_021959	[[30034931, 30035256], [30036366, 30036475], [30036880, 30038110]]	[[30035187, 30035256], [30036366, 30036475], [30036880, 30037083]]
NM_021959	[[1275162, 1275487], [1276597, 1276706], [1277111, 1278341]]	[[1275418, 1275487], [1276597, 1276706], [1277111, 1277314]]
NM_021959	[[1547031, 1547356], [1548466, 1548575], [1548980, 1550210]]	[[1547287, 1547356], [1548466, 1548575], [1548980, 1549183]]
NM_021959	[[1328655, 1328980], [1330090, 1330199], [1330604, 1331834]]	[[1328911, 1328980], [1330090, 1330199], [1330604, 1330807]]
NM_021959	[[1416829, 1417154], [1418264, 1418373], [1418778, 1420008]]	[[1417085, 1417154], [1418264, 1418373], [1418778, 1418981]]
NM_021959	[[1327910, 1328235], [1329345, 1329454], [1329859, 1331089]]	[[1328166, 1328235], [1329345, 1329454], [1329859, 1330062]]
NM_021959	[[1333523, 1333849], [1334959, 1335068], [1335473, 1336703]]	[[1333780, 1333849], [1334959, 1335068], [1335473, 1335676]]
NM_021959	[[1365371, 1365696], [1366806, 1366915], [1367320, 1368550]]	[[1365627, 1365696], [1366806, 1366915], [1367320, 1367523]]

Promoter

Chrom	Start	End	Description
chr6	30034926	30034937	CAGE_peak_3_at_PPP1R11_5end
chr6	30034966	30035030	CAGE_peak_1_at_PPP1R11_5end
chr6	30035053	30035065	CAGE_peak_2_at_PPP1R11_5end
chr6	30035108	30035119	CAGE_peak_8_at_PPP1R11_5end
chr6	30035307	30035330	CAGE_peak_7_at_PPP1R11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I030074	30074194	30076775	1.53	[{'connected_gene': 'RNF39', 'score': 556.34}, {'connected_gene': 'HCG4P3', 'score': 36.56}, {'connected_gene': 'HLA-K', 'score': 24.71}, {'connected_gene': 'ZFP57', 'score': 24.18}, {'connected_gene': 'ZNRD1', 'score': 24.05}, {'connected_gene': 'ZNRD1ASP', 'score': 18.9}, {'connected_gene': 'HLA-A', 'score': 12.71}, {'connected_gene': 'MICE', 'score': 4.68}, {'connected_gene': 'PPP1R11', 'score': 0.44}]
chr6	GH06I030065	30065321	30068289	2.11	[{'connected_gene': 'PPP1R11', 'score': 550.77}, {'connected_gene': 'HCG4P3', 'score': 36.57}, {'connected_gene': 'TRIM26', 'score': 30.56}, {'connected_gene': 'TRIM39', 'score': 28.86}, {'connected_gene': 'MDC1', 'score': 27.43}, {'connected_gene': 'PPP1R10', 'score': 26.41}, {'connected_gene': 'ZNRD1', 'score': 23.74}, {'connected_gene': 'HLA-A', 'score': 23.51}, {'connected_gene': 'ETF1P1', 'score': 22.15}, {'connected_gene': 'PAIP1P1', 'score': 20.34}, {'connected_gene': 'ABCF1', 'score': 17.76}, {'connected_gene': 'IFITM4P', 'score': 16.02}, {'connected_gene': 'HCG18', 'score': 13.4}, {'connected_gene': 'GTF2H4', 'score': 11.74}, {'connected_gene': 'TRIM31-AS1', 'score': 11.48}, {'connected_gene': 'TRIM31', 'score': 11.45}, {'connected_gene': 'NRM', 'score': 11.11}, {'connected_gene': 'DHX16', 'score': 10.62}, {'connected_gene': 'HLA-U', 'score': 10.32}, {'connected_gene': 'HCG4P7', 'score': 10.3}, {'connected_gene': 'ENSG00000272540', 'score': 10.29}, {'connected_gene': 'HLA-K', 'score': 9.78}, {'connected_gene': 'HLA-J', 'score': 5.75}, {'connected_gene': 'MICE', 'score': 4.68}, {'connected_gene': 'RNF39', 'score': 0.44}]
chr6	GH06I030321	30321634	30323968	1.24	[{'connected_gene': 'HCG18', 'score': 23.91}, {'connected_gene': 'HLA-L', 'score': 21.25}, {'connected_gene': 'HLA-U', 'score': 13.56}, {'connected_gene': 'DHX16', 'score': 4.46}, {'connected_gene': 'PPP1R11', 'score': 3.74}, {'connected_gene': 'HCG17', 'score': 0.77}, {'connected_gene': 'PIR56292', 'score': 0.31}]
chr6	GH06I030094	30094605	30096232	0.85	[{'connected_gene': 'HLA-U', 'score': 32.12}, {'connected_gene': 'HLA-K', 'score': 24.74}, {'connected_gene': 'HCG4', 'score': 14.26}, {'connected_gene': 'ZFP57', 'score': 12.23}, {'connected_gene': 'PPP1R11', 'score': 10.74}, {'connected_gene': 'HLA-W', 'score': 6.26}, {'connected_gene': 'TRIM31-AS1', 'score': 0.44}, {'connected_gene': 'RNF39', 'score': 0.37}]
chr6	GH06I030100	30100149	30104011	1.55	[{'connected_gene': 'HLA-K', 'score': 23.31}, {'connected_gene': 'RPL23AP1', 'score': 20.28}, {'connected_gene': 'TRIM31-AS1', 'score': 20.02}, {'connected_gene': 'HCG4', 'score': 17.59}, {'connected_gene': 'MICD', 'score': 17.13}, {'connected_gene': 'ZNRD1ASP', 'score': 16.4}, {'connected_gene': 'HCG4P3', 'score': 10.78}, {'connected_gene': 'HLA-J', 'score': 6.44}, {'connected_gene': 'ABCF1', 'score': 5.79}, {'connected_gene': 'HLA-W', 'score': 4.57}, {'connected_gene': 'HLA-A', 'score': 4.14}, {'connected_gene': 'RNF39', 'score': 2.81}, {'connected_gene': 'PPP1R11', 'score': 2.57}, {'connected_gene': 'HLA-F', 'score': 2.52}, {'connected_gene': 'TRIM26', 'score': 2.39}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.18}, {'connected_gene': 'HLA-G', 'score': 2.08}, {'connected_gene': 'TRIM39', 'score': 1.84}, {'connected_gene': 'HLA-E', 'score': 1.4}, {'connected_gene': 'TRIM31', 'score': 0.39}]
chr6	GH06I029963	29963870	29968628	1.82	[{'connected_gene': 'HLA-A', 'score': 40.59}, {'connected_gene': 'HLA-K', 'score': 37.47}, {'connected_gene': 'HCG4P3', 'score': 35.57}, {'connected_gene': 'ZNRD1', 'score': 33.01}, {'connected_gene': 'HLA-W', 'score': 31.1}, {'connected_gene': 'TRIM39', 'score': 27.67}, {'connected_gene': 'HLA-H', 'score': 26.72}, {'connected_gene': 'PPP1R10', 'score': 25.83}, {'connected_gene': 'MDC1', 'score': 23.56}, {'connected_gene': 'DHX16', 'score': 23.05}, {'connected_gene': 'HLA-J', 'score': 22.44}, {'connected_gene': 'PAIP1P1', 'score': 21.39}, {'connected_gene': 'TRIM26', 'score': 21.37}, {'connected_gene': 'HCG4P5', 'score': 20.72}, {'connected_gene': 'MICD', 'score': 20.06}, {'connected_gene': 'GTF2H4', 'score': 18.66}, {'connected_gene': 'HCG4', 'score': 18.57}, {'connected_gene': 'IFITM4P', 'score': 16.93}, {'connected_gene': 'HLA-F', 'score': 16.35}, {'connected_gene': 'TRIM10', 'score': 13.89}, {'connected_gene': 'ZNRD1ASP', 'score': 12.73}, {'connected_gene': 'GNL1', 'score': 12.33}, {'connected_gene': 'ETF1P1', 'score': 11.74}, {'connected_gene': 'ABCF1', 'score': 10.93}, {'connected_gene': 'NRM', 'score': 10.71}, {'connected_gene': 'OR2H2', 'score': 9.68}, {'connected_gene': 'ZFP57', 'score': 9.51}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.87}, {'connected_gene': 'PPP1R11', 'score': 2.71}, {'connected_gene': 'HCG9', 'score': 0.44}]
chr6	GH06I030060	30060056	30063369	2.1	[{'connected_gene': 'ZNRD1', 'score': 585.85}, {'connected_gene': 'GC06M030345', 'score': 550.77}, {'connected_gene': 'GC06M030339', 'score': 550.77}, {'connected_gene': 'GC06M030331', 'score': 550.77}, {'connected_gene': 'ENSG00000278773', 'score': 550.77}, {'connected_gene': 'GC06M030346', 'score': 550.77}, {'connected_gene': 'GC06M030348', 'score': 550.77}, {'connected_gene': 'GC06M030349', 'score': 550.77}, {'connected_gene': 'GC06M030334', 'score': 550.77}, {'connected_gene': 'GC06M030344', 'score': 550.77}, {'connected_gene': 'ZNRD1ASP', 'score': 550.77}, {'connected_gene': 'HCG4P3', 'score': 38.11}, {'connected_gene': 'PPP1R10', 'score': 28.96}, {'connected_gene': 'TRIM39', 'score': 26.48}, {'connected_gene': 'HLA-H', 'score': 24.39}, {'connected_gene': 'TRIM26', 'score': 24.34}, {'connected_gene': 'HLA-A', 'score': 23.51}, {'connected_gene': 'PAIP1P1', 'score': 21.39}, {'connected_gene': 'NRM', 'score': 20.09}, {'connected_gene': 'MDC1', 'score': 15.48}, {'connected_gene': 'DHX16', 'score': 14.88}, {'connected_gene': 'ETF1P1', 'score': 11.83}, {'connected_gene': 'ABCF1', 'score': 10.93}, {'connected_gene': 'GTF2H4', 'score': 10.63}, {'connected_gene': 'HLA-K', 'score': 9.79}, {'connected_gene': 'HCG4B', 'score': 6.92}, {'connected_gene': 'HLA-W', 'score': 4.6}, {'connected_gene': 'PPP1R11', 'score': 0.77}]
chr6	GH06I030507	30507618	30511600	1.54	[{'connected_gene': 'TRIM39-RPP21', 'score': 13.07}, {'connected_gene': 'HLA-A', 'score': 11.26}, {'connected_gene': 'ABCF1', 'score': 8.92}, {'connected_gene': 'PPP1R10', 'score': 7.46}, {'connected_gene': 'TRIM39', 'score': 6.43}, {'connected_gene': 'HLA-E', 'score': 6.29}, {'connected_gene': 'TRIM26', 'score': 4.33}, {'connected_gene': 'PPP1R11', 'score': 3.77}, {'connected_gene': 'PRR3', 'score': 2.87}, {'connected_gene': 'FLOT1', 'score': 2.42}, {'connected_gene': 'PPP1R18', 'score': 2.31}, {'connected_gene': 'TRIM40', 'score': 1.28}, {'connected_gene': 'LINC02569', 'score': 0.44}]
chr6	GH06I030527	30527261	30530799	1.67	[{'connected_gene': 'GC06M030528', 'score': 550.77}, {'connected_gene': 'IER3', 'score': 18.33}, {'connected_gene': 'PRR3', 'score': 14.1}, {'connected_gene': 'MICD', 'score': 13.13}, {'connected_gene': 'GNL1', 'score': 12.63}, {'connected_gene': 'HCG18', 'score': 11.41}, {'connected_gene': 'ABCF1', 'score': 10.84}, {'connected_gene': 'HLA-C', 'score': 10.65}, {'connected_gene': 'TRIM39', 'score': 10.5}, {'connected_gene': 'C6orf136', 'score': 10.29}, {'connected_gene': 'PPP1R10', 'score': 9.9}, {'connected_gene': 'PPP1R18', 'score': 9.19}, {'connected_gene': 'HLA-E', 'score': 8.14}, {'connected_gene': 'VARS2', 'score': 6.8}, {'connected_gene': 'TRIM39-RPP21', 'score': 6.48}, {'connected_gene': 'DHX16', 'score': 6.23}, {'connected_gene': 'HLA-K', 'score': 4.52}, {'connected_gene': 'HLA-L', 'score': 4.23}, {'connected_gene': 'MUC22', 'score': 4.18}, {'connected_gene': 'IFITM4P', 'score': 4.06}, {'connected_gene': 'PPP1R11', 'score': 3.49}, {'connected_gene': 'TRIM26', 'score': 3.19}, {'connected_gene': 'FLOT1', 'score': 2.96}, {'connected_gene': 'TRIM40', 'score': 2.11}, {'connected_gene': 'ATAT1', 'score': 1.9}, {'connected_gene': 'LINC02569', 'score': 0.39}]