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
ENST00000356352	[[11962020, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077896]]	[[11963296, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077422]]
ENST00000357604	[[11962020, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077440], [12084753, 12084833]]	[[11963296, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077422]]
ENST00000397053	[[11962021, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077440], [12084912, 12085023]]	[[11963296, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077422]]
ENST00000460569	[[12077057, 12077440], [12084912, 12085169]]	None
NM_015542	[[11962020, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077440], [12084753, 12084840]]	[[11963296, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077422]]
NM_080599	[[11962020, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077440], [12084912, 12085169]]	[[11963296, 11963306], [11971863, 11971984], [11973639, 11973781], [11978543, 11978711], [11984663, 11984762], [11985062, 11985167], [11990367, 11990507], [11994064, 11994248], [11997230, 11997506], [11998318, 11998522], [12001169, 12001355], [12006007, 12006124], [12009339, 12009453], [12021055, 12021164], [12039670, 12039756], [12041904, 12042008], [12043674, 12043824], [12046528, 12046726], [12056022, 12056183], [12070743, 12071523], [12077057, 12077422]]

Promoter

Chrom	Start	End	Description
chr10	12084770	12084830	CAGE_peak_1_at_UPF2_5end
chr10	12084841	12084868	CAGE_peak_2_at_UPF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I011551	11551163	11555334	1.26	[{'connected_gene': 'USP6NL', 'score': 12.53}, {'connected_gene': 'UPF2', 'score': 11.06}, {'connected_gene': 'ECHDC3', 'score': 10.79}, {'connected_gene': 'GC10P011559', 'score': 0.44}, {'connected_gene': 'GC10M011466', 'score': 0.22}]
chr10	GH10I011797	11797478	11800004	0.88	[{'connected_gene': 'ECHDC3', 'score': 17.36}, {'connected_gene': 'UPF2', 'score': 9.84}, {'connected_gene': 'LOC105376415', 'score': 0.39}, {'connected_gene': 'PROSER2', 'score': 0.34}]
chr10	GH10I012270	12270318	12271651	1.46	[{'connected_gene': 'CAMK1D', 'score': 21.47}, {'connected_gene': 'UPF2', 'score': 3.61}, {'connected_gene': 'GC10P012264', 'score': 0.44}, {'connected_gene': 'GC10M012285', 'score': 0.37}]
chr10	GH10I012240	12240676	12245867	1.41	[{'connected_gene': 'CAMK1D', 'score': 32.09}, {'connected_gene': 'MIR548Q', 'score': 10.25}, {'connected_gene': 'NUDT5', 'score': 9.25}, {'connected_gene': 'UPF2', 'score': 4.14}, {'connected_gene': 'SEC61A2', 'score': 2.02}, {'connected_gene': 'ENSG00000228302', 'score': 0.77}, {'connected_gene': 'CDC123', 'score': 0.25}]
chr10	GH10I011995	11995347	11995962	0.2	[{'connected_gene': 'DHTKD1', 'score': 11.75}, {'connected_gene': 'UPF2', 'score': 6.09}, {'connected_gene': 'GC10M012019', 'score': 0.34}, {'connected_gene': 'GC10M011946', 'score': 0.34}]
chr10	GH10I011993	11993251	11995059	0.62	[{'connected_gene': 'DHTKD1', 'score': 11.75}, {'connected_gene': 'GC10M011946', 'score': 0.34}, {'connected_gene': 'GC10M012019', 'score': 0.31}, {'connected_gene': 'UPF2', 'score': 0.25}]
chr10	GH10I012073	12073530	12075876	0.63	[{'connected_gene': 'SEC61A2', 'score': 11.77}, {'connected_gene': 'UPF2', 'score': 11.75}, {'connected_gene': 'PROSER2-AS1', 'score': 5.52}, {'connected_gene': 'DHTKD1', 'score': 0.44}, {'connected_gene': 'GC10P012093', 'score': 0.37}]
chr10	GH10I011601	11601726	11606460	1.45	[{'connected_gene': 'UPF2', 'score': 19.79}, {'connected_gene': 'ENSG00000228302', 'score': 12.11}, {'connected_gene': 'ENSG00000271360', 'score': 0.44}, {'connected_gene': 'USP6NL', 'score': 0.44}, {'connected_gene': 'GC10P011559', 'score': 0.26}]
chr10	GH10I012447	12447899	12449886	1.49	[{'connected_gene': 'UPF2', 'score': 20.41}, {'connected_gene': 'CAMK1D', 'score': 16.64}, {'connected_gene': 'ENSG00000228302', 'score': 13.96}, {'connected_gene': 'ENSG00000252438', 'score': 12.42}, {'connected_gene': 'BTBD7P1', 'score': 12.05}, {'connected_gene': 'SEC61A2', 'score': 1.13}, {'connected_gene': 'GC10M012437', 'score': 0.44}, {'connected_gene': 'RNU6ATAC39P', 'score': 0.44}]
chr10	GH10I012022	12022242	12023173	0.6	[{'connected_gene': 'UPF2', 'score': 13.34}, {'connected_gene': 'DHTKD1', 'score': 11.86}, {'connected_gene': 'SEC61A2', 'score': 11.81}, {'connected_gene': 'GC10M012019', 'score': 0.77}]
chr10	GH10I012040	12040706	12044760	2.36	[{'connected_gene': 'UPF2', 'score': 556.72}, {'connected_gene': 'DHTKD1', 'score': 12.59}, {'connected_gene': 'PROSER2-AS1', 'score': 4.72}, {'connected_gene': 'USP6NL', 'score': 3.68}, {'connected_gene': 'CAMK1D', 'score': 3.37}, {'connected_gene': 'LOC105376416', 'score': 0.77}, {'connected_gene': 'GC10M012019', 'score': 0.34}]
chr10	GH10I012077	12077238	12079089	0.6	[{'connected_gene': 'UPF2', 'score': 12.02}, {'connected_gene': 'DHTKD1', 'score': 0.44}, {'connected_gene': 'GC10P012093', 'score': 0.37}]
chr10	GH10I012082	12082342	12082491	0.46	[{'connected_gene': 'UPF2', 'score': 12.0}, {'connected_gene': 'GC10P012093', 'score': 0.39}, {'connected_gene': 'DHTKD1', 'score': 0.39}]
chr10	GH10I011284	11284008	11288830	0.79	[{'connected_gene': 'UPF2', 'score': 18.37}, {'connected_gene': 'ENSG00000228302', 'score': 13.9}, {'connected_gene': 'GC10P011291', 'score': 0.77}, {'connected_gene': 'GC10M011275', 'score': 0.44}, {'connected_gene': 'CELF2', 'score': 0.04}]
chr10	GH10I012444	12444853	12446482	0.91	[{'connected_gene': 'SEPHS1', 'score': 22.67}, {'connected_gene': 'UPF2', 'score': 21.74}, {'connected_gene': 'ENSG00000252438', 'score': 12.43}, {'connected_gene': 'CAMK1D', 'score': 11.4}, {'connected_gene': 'ENSG00000228302', 'score': 10.33}, {'connected_gene': 'GC10M012437', 'score': 0.77}, {'connected_gene': 'RNU6ATAC39P', 'score': 0.39}]
chr10	GH10I011936	11936439	11937141	0.46	[{'connected_gene': 'PROSER2-AS1', 'score': 11.29}, {'connected_gene': 'DHTKD1', 'score': 10.45}, {'connected_gene': 'GC10M011916', 'score': 0.39}, {'connected_gene': 'GC10M011946', 'score': 0.28}, {'connected_gene': 'UPF2', 'score': 0.14}]
chr10	GH10I012193	12193863	12197601	2.1	[{'connected_gene': 'NUDT5', 'score': 557.4}, {'connected_gene': 'CDC123', 'score': 550.77}, {'connected_gene': 'UPF2', 'score': 10.77}, {'connected_gene': 'SEC61A2', 'score': 4.88}, {'connected_gene': 'CAMK1D', 'score': 4.64}, {'connected_gene': 'PIR56929', 'score': 0.34}]
chr10	GH10I012263	12263171	12266739	1.75	[{'connected_gene': 'GC10P012264', 'score': 550.77}, {'connected_gene': 'CAMK1D', 'score': 44.92}, {'connected_gene': 'MIR548Q', 'score': 10.09}, {'connected_gene': 'UPF2', 'score': 2.54}, {'connected_gene': 'SEC61A2', 'score': 1.96}, {'connected_gene': 'GC10M012285', 'score': 0.34}]
chr10	GH10I011142	11142438	11143600	0.96	[{'connected_gene': 'GC10M011141', 'score': 550.77}, {'connected_gene': 'ENSG00000230322', 'score': 12.97}, {'connected_gene': 'UPF2', 'score': 12.31}, {'connected_gene': 'CELF2-AS2', 'score': 10.3}, {'connected_gene': 'GC10M011168', 'score': 0.31}, {'connected_gene': 'CELF2', 'score': 0.05}]
chr10	GH10I011890	11890920	11892765	0.78	[{'connected_gene': 'GC10P011892', 'score': 550.77}, {'connected_gene': 'ENSG00000228302', 'score': 22.15}, {'connected_gene': 'UPF2', 'score': 19.14}, {'connected_gene': 'PROSER2-AS1', 'score': 14.17}, {'connected_gene': 'PROSER2', 'score': 13.46}, {'connected_gene': 'SEC61A2', 'score': 10.05}, {'connected_gene': 'GC10M011888', 'score': 0.77}, {'connected_gene': 'PIR51152', 'score': 0.77}]
chr10	GH10I011986	11986702	11986911	0.84	[{'connected_gene': 'GC10M011946', 'score': 0.39}, {'connected_gene': 'GC10M012019', 'score': 0.29}, {'connected_gene': 'UPF2', 'score': 0.22}]
chr10	GH10I011897	11897663	11899664	1.68	[{'connected_gene': 'PIR36850', 'score': 550.77}, {'connected_gene': 'PROSER2', 'score': 26.8}, {'connected_gene': 'UPF2', 'score': 20.45}, {'connected_gene': 'RNU6-1095P', 'score': 12.48}, {'connected_gene': 'ENSG00000228302', 'score': 10.76}, {'connected_gene': 'PROSER2-AS1', 'score': 6.3}, {'connected_gene': 'GC10P011915', 'score': 0.37}]
chr10	GH10I011895	11895333	11895571	0.71	[{'connected_gene': 'PIR36850', 'score': 550.77}, {'connected_gene': 'PROSER2-AS1', 'score': 550.77}, {'connected_gene': 'PROSER2', 'score': 12.44}, {'connected_gene': 'UPF2', 'score': 1.53}, {'connected_gene': 'GC10P011892', 'score': 0.77}]