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
ENST00000430004	[[198591602, 198593298], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198623665, 198623731], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649352, 198649734]]	[[198593190, 198593298], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198623665, 198623731], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646574]]
ENST00000392296	[[198591602, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649779, 198650074]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646574]]
ENST00000321801	[[198591602, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198650706, 198651298]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198650706, 198650727]]
ENST00000434976	[[198592972, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198643698, 198643790], [198646445, 198646589], [198650706, 198651036]]	[[198636699, 198636706], [198643698, 198643790], [198646445, 198646589], [198650706, 198650727]]
ENST00000282278	[[198592972, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198643698, 198643790], [198646445, 198646589], [198650706, 198651036]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198643698, 198643723]]
ENST00000468827	[[198592975, 198593302], [198607784, 198607883], [198620653, 198620685], [198621151, 198621169]]	None
ENST00000433157	[[198593257, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649352, 198649734]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646574]]
ENST00000486206	[[198650811, 198651291], [198651392, 198651486]]	None
NM_001284361	[[198591602, 198593298], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198623665, 198623731], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649352, 198649734]]	[[198593190, 198593298], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198623665, 198623731], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649352, 198649355]]
NM_001284362	[[198591602, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649352, 198649734]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649352, 198649355]]
NM_033030	[[198591602, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198649779, 198650074]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646574]]
NM_197970	[[198591602, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198650706, 198650938]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198640388, 198640464], [198641782, 198641837], [198643698, 198643790], [198646445, 198646589], [198650706, 198650727]]
NM_001284358	[[198591602, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198643698, 198643790], [198646445, 198646589], [198650706, 198651036]]	[[198593278, 198593302], [198607784, 198607883], [198621151, 198621280], [198622076, 198622124], [198631255, 198631327], [198636578, 198636706], [198643698, 198643723]]

Promoter

Chrom	Start	End	Description
chr2	198649994	198650008	CAGE_peak_4_at_BOLL_5end
chr2	198650014	198650026	CAGE_peak_3_at_BOLL_5end
chr2	198650029	198650036	CAGE_peak_5_at_BOLL_5end
chr2	198650037	198650050	CAGE_peak_1_at_BOLL_5end
chr2	198650810	198650817	CAGE_peak_6_at_BOLL_5end
chr2	198650907	198650936	CAGE_peak_2_at_BOLL_5end
chr2	198650961	198650968	CAGE_peak_7_at_BOLL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I197451	197451297	197455459	2.29	[{'connected_gene': 'COQ10B', 'score': 555.59}, {'connected_gene': 'HSPE1', 'score': 11.66}, {'connected_gene': 'HSPD1', 'score': 11.62}, {'connected_gene': 'ENSG00000202434', 'score': 10.53}, {'connected_gene': 'BOLL', 'score': 9.99}, {'connected_gene': 'ANKRD44', 'score': 9.93}, {'connected_gene': 'PLCL1', 'score': 8.17}, {'connected_gene': 'RNU6-1029P', 'score': 0.44}]
chr2	GH02I197807	197807401	197807600	0.2	[{'connected_gene': 'BOLL', 'score': 10.59}, {'connected_gene': 'ANKRD44', 'score': 7.77}, {'connected_gene': 'LOC105373828', 'score': 0.77}, {'connected_gene': 'PLCL1', 'score': 0.77}]
chr2	GH02I198135	198135437	198135586	0.58	[{'connected_gene': 'BOLL', 'score': 10.39}, {'connected_gene': 'GC02M198022', 'score': 0.77}, {'connected_gene': 'ENSG00000237035', 'score': 0.22}, {'connected_gene': 'PLCL1', 'score': 0.06}]
chr2	GH02I198134	198134087	198134930	0.4	[{'connected_gene': 'BOLL', 'score': 10.39}, {'connected_gene': 'RFTN2', 'score': 4.64}, {'connected_gene': 'ANKRD44', 'score': 4.49}, {'connected_gene': 'GC02M198022', 'score': 0.77}, {'connected_gene': 'ENSG00000237035', 'score': 0.22}, {'connected_gene': 'PLCL1', 'score': 0.05}]
chr2	GH02I197585	197585186	197589100	0.2	[{'connected_gene': 'BOLL', 'score': 10.25}, {'connected_gene': 'RNU6-1029P', 'score': 10.16}, {'connected_gene': 'SF3B1', 'score': 10.15}, {'connected_gene': 'ANKRD44', 'score': 9.32}, {'connected_gene': 'PLCL1', 'score': 9.1}, {'connected_gene': 'GC02P197600', 'score': 0.39}, {'connected_gene': 'GC02M197569', 'score': 0.39}, {'connected_gene': 'RFTN2', 'score': 0.17}]
chr2	GH02I197787	197786400	197786746	1.46	[{'connected_gene': 'BOLL', 'score': 550.77}, {'connected_gene': 'GC02P197765', 'score': 0.34}]
chr2	GH02I197786	197786077	197786255	0.99	[{'connected_gene': 'BOLL', 'score': 550.77}, {'connected_gene': 'GC02P197765', 'score': 0.34}]
chr2	GH02I197785	197785309	197785368	0.5	[{'connected_gene': 'BOLL', 'score': 550.77}, {'connected_gene': 'GC02P197765', 'score': 0.37}]
chr2	GH02I198121	198121915	198122075	0.22	[{'connected_gene': 'PLCL1', 'score': 13.09}, {'connected_gene': 'MARS2', 'score': 10.64}, {'connected_gene': 'BOLL', 'score': 10.28}, {'connected_gene': 'GC02M198022', 'score': 0.44}, {'connected_gene': 'GC02P198055', 'score': 0.2}]
chr2	GH02I197847	197847350	197849402	0.67	[{'connected_gene': 'PLCL1', 'score': 10.75}, {'connected_gene': 'BOLL', 'score': 10.28}, {'connected_gene': 'SF3B1', 'score': 9.36}, {'connected_gene': 'RFTN2', 'score': 5.72}, {'connected_gene': 'MOB4', 'score': 1.72}, {'connected_gene': 'GC02P197830', 'score': 0.37}, {'connected_gene': 'GC02M197883', 'score': 0.28}]
chr2	GH02I197804	197803337	197803438	0.56	[{'connected_gene': 'PLCL1', 'score': 550.77}, {'connected_gene': 'LOC105373828', 'score': 0.44}, {'connected_gene': 'BOLL', 'score': 0.37}]
chr2	GH02I197805	197803097	197803266	0.62	[{'connected_gene': 'PLCL1', 'score': 550.77}, {'connected_gene': 'LOC105373828', 'score': 0.44}, {'connected_gene': 'BOLL', 'score': 0.37}]
chr2	GH02I197575	197575991	197579552	0.74	[{'connected_gene': 'GC02M197569', 'score': 550.77}, {'connected_gene': 'BOLL', 'score': 10.25}, {'connected_gene': 'PLCL1', 'score': 8.27}, {'connected_gene': 'GC02P197600', 'score': 0.34}, {'connected_gene': 'RFTN2', 'score': 0.15}]
chr2	GH02I198130	198130761	198132795	0.31	[{'connected_gene': 'GC02M198022', 'score': 550.77}, {'connected_gene': 'PLCL1', 'score': 11.59}, {'connected_gene': 'BOLL', 'score': 10.39}, {'connected_gene': 'SF3B1', 'score': 5.28}, {'connected_gene': 'ANKRD44', 'score': 4.06}, {'connected_gene': 'ENSG00000237035', 'score': 0.22}]