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
ENST00000527073	[[62539100, 62539471], [62539548, 62539604], [62542066, 62542137], [62559150, 62559215]]	None
ENST00000528367	[[62539132, 62539604], [62542066, 62542137], [62559150, 62559464]]	[[62539577, 62539604], [62542066, 62542137], [62559150, 62559464]]
ENST00000525631	[[62554980, 62555397], [62559150, 62559469]]	[[62555392, 62555397], [62559150, 62559466]]
ENST00000307366	[[62557442, 62558387], [62559150, 62559493]]	[[62558094, 62558387], [62559150, 62559466]]
NM_001080501	[[62557786, 62558387], [62559150, 62559486]]	[[62558094, 62558387], [62559150, 62559466]]

Promoter

Chrom	Start	End	Description
chr11	62559455	62559494	CAGE_peak_1_at_TMEM223_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I062906	62906049	62906238	1.05	[{'connected_gene': 'SLC22A6', 'score': 11.0}, {'connected_gene': 'TMEM223', 'score': 4.4}, {'connected_gene': 'ENSG00000257002', 'score': 0.77}, {'connected_gene': 'GC11P062886', 'score': 0.37}]
chr11	GH11I062790	62790318	62793099	2.01	[{'connected_gene': 'TMEM223', 'score': 558.32}, {'connected_gene': 'MIR6748', 'score': 550.77}, {'connected_gene': 'PIR49413', 'score': 550.77}, {'connected_gene': 'MIR6514', 'score': 550.77}, {'connected_gene': 'BSCL2', 'score': 37.1}, {'connected_gene': 'SNHG1', 'score': 12.46}, {'connected_gene': 'TMEM179B', 'score': 0.77}, {'connected_gene': 'NXF1', 'score': 0.39}]
chr11	GH11I062785	62785812	62788408	2.1	[{'connected_gene': 'TMEM179B', 'score': 555.77}, {'connected_gene': 'ENSG00000269176', 'score': 550.77}, {'connected_gene': 'TAF6L', 'score': 13.79}, {'connected_gene': 'TTC9C', 'score': 13.28}, {'connected_gene': 'SNHG1', 'score': 13.27}, {'connected_gene': 'TUT1', 'score': 10.8}, {'connected_gene': 'CSKMT', 'score': 10.57}, {'connected_gene': 'TMEM223', 'score': 7.47}, {'connected_gene': 'WDR74', 'score': 5.57}]
chr11	GH11I062789	62789083	62789283	0.43	[{'connected_gene': 'TMEM179B', 'score': 550.77}, {'connected_gene': 'MIR6748', 'score': 550.77}, {'connected_gene': 'PIR49413', 'score': 550.77}, {'connected_gene': 'TMEM223', 'score': 0.77}]
chr11	GH11I062694	62694329	62695400	0.71	[{'connected_gene': 'BSCL2', 'score': 33.32}, {'connected_gene': 'TTC9C', 'score': 14.93}, {'connected_gene': 'LBHD1', 'score': 11.99}, {'connected_gene': 'ENSG00000255432', 'score': 11.97}, {'connected_gene': 'CSKMT', 'score': 11.97}, {'connected_gene': 'SNORA57', 'score': 11.97}, {'connected_gene': 'INTS5', 'score': 11.71}, {'connected_gene': 'GANAB', 'score': 11.69}, {'connected_gene': 'UQCC3', 'score': 11.68}, {'connected_gene': 'EML3', 'score': 11.12}, {'connected_gene': 'ENSG00000254964', 'score': 11.11}, {'connected_gene': 'MTA2', 'score': 11.1}, {'connected_gene': 'POLR2G', 'score': 10.67}, {'connected_gene': 'NXF1', 'score': 10.58}, {'connected_gene': 'SNORD22', 'score': 10.47}, {'connected_gene': 'SLC3A2', 'score': 10.46}, {'connected_gene': 'SNHG1', 'score': 10.46}, {'connected_gene': 'ENSG00000255508', 'score': 10.35}, {'connected_gene': 'TUT1', 'score': 10.35}, {'connected_gene': 'SNORD28', 'score': 10.34}, {'connected_gene': 'AHNAK', 'score': 10.26}, {'connected_gene': 'SCGB1A1', 'score': 10.25}, {'connected_gene': 'ENSG00000255126', 'score': 10.25}, {'connected_gene': 'ASRGL1', 'score': 10.24}, {'connected_gene': 'TAF6L', 'score': 10.18}, {'connected_gene': 'TMEM223', 'score': 5.12}, {'connected_gene': 'PIR36903', 'score': 0.77}, {'connected_gene': 'PIR45319', 'score': 0.44}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.29}]
chr11	GH11I062887	62887744	62891774	1.38	[{'connected_gene': 'BSCL2', 'score': 39.46}, {'connected_gene': 'TAF6L', 'score': 23.65}, {'connected_gene': 'SLC3A2', 'score': 10.87}, {'connected_gene': 'SNHG1', 'score': 10.87}, {'connected_gene': 'SNORD28', 'score': 10.85}, {'connected_gene': 'TUT1', 'score': 10.78}, {'connected_gene': 'SNORD22', 'score': 10.67}, {'connected_gene': 'SLC22A6', 'score': 10.1}, {'connected_gene': 'AHNAK', 'score': 9.47}, {'connected_gene': 'TTC9C', 'score': 5.85}, {'connected_gene': 'TMEM223', 'score': 5.21}, {'connected_gene': 'GC11P062886', 'score': 0.77}, {'connected_gene': 'ENSG00000257002', 'score': 0.37}]
chr11	GH11I062637	62637380	62639961	0.31	[{'connected_gene': 'EML3', 'score': 39.88}, {'connected_gene': 'LBHD1', 'score': 11.5}, {'connected_gene': 'UQCC3', 'score': 11.5}, {'connected_gene': 'ENSG00000255432', 'score': 11.43}, {'connected_gene': 'CSKMT', 'score': 11.37}, {'connected_gene': 'SNORA57', 'score': 11.37}, {'connected_gene': 'ENSG00000254964', 'score': 11.22}, {'connected_gene': 'MTA2', 'score': 11.2}, {'connected_gene': 'ENSG00000255508', 'score': 11.01}, {'connected_gene': 'TUT1', 'score': 11.01}, {'connected_gene': 'EEF1G', 'score': 10.21}, {'connected_gene': 'TAF6L', 'score': 9.39}, {'connected_gene': 'TMEM223', 'score': 5.12}, {'connected_gene': 'GANAB', 'score': 0.44}, {'connected_gene': 'B3GAT3', 'score': 0.37}, {'connected_gene': 'GC11M062588', 'score': 0.29}]
chr11	GH11I062852	62852889	62858785	2.59	[{'connected_gene': 'SNHG1', 'score': 631.66}, {'connected_gene': 'SLC3A2', 'score': 552.85}, {'connected_gene': 'SNORD29', 'score': 550.77}, {'connected_gene': 'SNORD26', 'score': 550.77}, {'connected_gene': 'GC11M062919', 'score': 550.77}, {'connected_gene': 'SNORD27', 'score': 550.77}, {'connected_gene': 'GC11M062923', 'score': 550.77}, {'connected_gene': 'GC11M062930', 'score': 550.77}, {'connected_gene': 'SNORD25', 'score': 550.77}, {'connected_gene': 'ENSG00000278527', 'score': 550.77}, {'connected_gene': 'SNORD28', 'score': 550.77}, {'connected_gene': 'GC11M062920', 'score': 550.77}, {'connected_gene': 'GC11M062925', 'score': 550.77}, {'connected_gene': 'GC11M062911', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 91.06}, {'connected_gene': 'CSKMT', 'score': 84.71}, {'connected_gene': 'GANAB', 'score': 76.82}, {'connected_gene': 'INTS5', 'score': 74.55}, {'connected_gene': 'MTA2', 'score': 72.12}, {'connected_gene': 'EML3', 'score': 69.16}, {'connected_gene': 'STX5', 'score': 64.99}, {'connected_gene': 'UBXN1', 'score': 61.32}, {'connected_gene': 'LOC105369332', 'score': 55.58}, {'connected_gene': 'TMEM179B', 'score': 44.8}, {'connected_gene': 'TUT1', 'score': 38.07}, {'connected_gene': 'WDR74', 'score': 32.31}, {'connected_gene': 'TAF6L', 'score': 27.75}, {'connected_gene': 'EEF1G', 'score': 19.41}, {'connected_gene': 'ATL3', 'score': 11.26}, {'connected_gene': 'TTC9C', 'score': 10.42}, {'connected_gene': 'IMMP1LP1', 'score': 10.35}, {'connected_gene': 'SPINDOC', 'score': 9.85}, {'connected_gene': 'LRRN4CL', 'score': 9.85}, {'connected_gene': 'TMEM223', 'score': 4.63}, {'connected_gene': 'HNRNPUL2', 'score': 1.57}, {'connected_gene': 'SNORD22', 'score': 0.77}, {'connected_gene': 'GC11M062924', 'score': 0.77}, {'connected_gene': 'SNORD31', 'score': 0.77}, {'connected_gene': 'GC11M062921', 'score': 0.77}, {'connected_gene': 'SNORD30', 'score': 0.77}, {'connected_gene': 'GC11M062922', 'score': 0.77}]
chr11	GH11I062851	62851056	62852658	1.09	[{'connected_gene': 'GC11M062924', 'score': 550.77}, {'connected_gene': 'SNORD31', 'score': 550.77}, {'connected_gene': 'SNORD22', 'score': 550.77}, {'connected_gene': 'GC11M062921', 'score': 550.77}, {'connected_gene': 'SNORD30', 'score': 550.77}, {'connected_gene': 'GC11M062922', 'score': 550.77}, {'connected_gene': 'SNHG1', 'score': 39.94}, {'connected_gene': 'NXF1', 'score': 32.83}, {'connected_gene': 'UBXN1', 'score': 28.45}, {'connected_gene': 'CSKMT', 'score': 27.95}, {'connected_gene': 'EML3', 'score': 27.49}, {'connected_gene': 'GANAB', 'score': 27.4}, {'connected_gene': 'MTA2', 'score': 24.88}, {'connected_gene': 'INTS5', 'score': 24.42}, {'connected_gene': 'STX5', 'score': 23.01}, {'connected_gene': 'TMEM179B', 'score': 22.24}, {'connected_gene': 'LOC105369332', 'score': 19.83}, {'connected_gene': 'TAF6L', 'score': 11.71}, {'connected_gene': 'TUT1', 'score': 11.64}, {'connected_gene': 'ATL3', 'score': 11.26}, {'connected_gene': 'WDR74', 'score': 10.77}, {'connected_gene': 'EEF1G', 'score': 10.72}, {'connected_gene': 'IMMP1LP1', 'score': 10.35}, {'connected_gene': 'LRRN4CL', 'score': 9.84}, {'connected_gene': 'TMEM223', 'score': 6.79}, {'connected_gene': 'GC11M062930', 'score': 0.77}, {'connected_gene': 'GC11M062842', 'score': 0.39}, {'connected_gene': 'RNU2-2P', 'score': 0.39}]
chr11	GH11I062769	62769556	62772395	2.08	[{'connected_gene': 'ENSG00000267811', 'score': 550.77}, {'connected_gene': 'TAF6L', 'score': 550.77}, {'connected_gene': 'WDR74', 'score': 4.83}, {'connected_gene': 'POLR2G', 'score': 0.44}, {'connected_gene': 'TMEM223', 'score': 0.34}]