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
ENST00000578646	[[19284917, 19285084], [19345732, 19345904], [19348583, 19348713], [19353584, 19353689], [19358063, 19358130], [19359441, 19359646], [19371295, 19371518], [19378044, 19378189], [19379801, 19379935], [19383867, 19383975], [19395576, 19395774], [19399455, 19399607], [19418325, 19418458], [19423091, 19423178], [19424052, 19424214], [19426904, 19427086], [19429156, 19429349], [19433100, 19433179], [19437090, 19437204], [19438506, 19438607], [19444486, 19444935]]	None
ENST00000261537	[[19321280, 19321773], [19345732, 19345904], [19348583, 19348713], [19353584, 19353689], [19358063, 19358130], [19359441, 19359646], [19371334, 19371518], [19378044, 19378189], [19379801, 19379935], [19383867, 19383975], [19395576, 19395774], [19399455, 19399607], [19418325, 19418458], [19423091, 19423178], [19424052, 19424214], [19426904, 19427086], [19429156, 19429349], [19433100, 19433179], [19437090, 19437204], [19438506, 19438607], [19444486, 19450918]]	[[19321544, 19321773], [19345732, 19345904], [19348583, 19348713], [19353584, 19353689], [19358063, 19358130], [19359441, 19359646], [19371334, 19371518], [19378044, 19378189], [19379801, 19379935], [19383867, 19383975], [19395576, 19395774], [19399455, 19399607], [19418325, 19418458], [19423091, 19423178], [19424052, 19424214], [19426904, 19427086], [19429156, 19429349], [19433100, 19433179], [19437090, 19437204], [19438506, 19438607], [19444486, 19444627]]
ENST00000577749	[[19378044, 19378189], [19379801, 19379935], [19383867, 19383975], [19392352, 19392429], [19395576, 19395774], [19399455, 19399519]]	None
ENST00000578260	[[19383693, 19383975], [19395576, 19395774], [19399455, 19399519]]	None
NM_020774	[[19321289, 19321773], [19345732, 19345904], [19348583, 19348713], [19353584, 19353689], [19358063, 19358130], [19359441, 19359646], [19371334, 19371518], [19378044, 19378189], [19379801, 19379935], [19383867, 19383975], [19395576, 19395774], [19399455, 19399607], [19418325, 19418458], [19423091, 19423178], [19424052, 19424214], [19426904, 19427086], [19429156, 19429349], [19433100, 19433179], [19437090, 19437204], [19438506, 19438607], [19444486, 19450918]]	[[19321544, 19321773], [19345732, 19345904], [19348583, 19348713], [19353584, 19353689], [19358063, 19358130], [19359441, 19359646], [19371334, 19371518], [19378044, 19378189], [19379801, 19379935], [19383867, 19383975], [19395576, 19395774], [19399455, 19399607], [19418325, 19418458], [19423091, 19423178], [19424052, 19424214], [19426904, 19427086], [19429156, 19429349], [19433100, 19433179], [19437090, 19437204], [19438506, 19438607], [19444486, 19444627]]

Promoter

Chrom	Start	End	Description
chr18	19284854	19284899	CAGE_peak_2_at_MIB1_5end
chr18	19320776	19320808	CAGE_peak_1_at_MIB1_5end
chr18	19320819	19320841	CAGE_peak_4_at_MIB1_5end
chr18	19321320	19321334	CAGE_peak_3_at_MIB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I021637	21637988	21639089	0.83	[{'connected_gene': 'SNRPD1', 'score': 17.39}, {'connected_gene': 'ESCO1', 'score': 11.38}, {'connected_gene': 'MIR320C1', 'score': 11.31}, {'connected_gene': 'MIB1', 'score': 10.74}, {'connected_gene': 'GC18P021649', 'score': 0.39}, {'connected_gene': 'GC18M021596', 'score': 0.37}]
chr18	GH18I021611	21611558	21613735	2.3	[{'connected_gene': 'SNRPD1', 'score': 556.36}, {'connected_gene': 'ESCO1', 'score': 24.83}, {'connected_gene': 'ENSG00000264188', 'score': 11.79}, {'connected_gene': 'MIR320C1', 'score': 11.58}, {'connected_gene': 'MIB1', 'score': 11.06}, {'connected_gene': 'GC18M021596', 'score': 0.39}]
chr18	GH18I021758	21758991	21761961	0.74	[{'connected_gene': 'MIB1', 'score': 6.57}, {'connected_gene': 'GREB1L', 'score': 4.73}, {'connected_gene': 'RN7SL233P', 'score': 0.29}, {'connected_gene': 'ENSG00000200750', 'score': 0.28}]
chr18	GH18I022222	22222197	22225325	1.33	[{'connected_gene': 'MIB1', 'score': 9.75}, {'connected_gene': 'SNRPD1', 'score': 4.68}, {'connected_gene': 'LOC105372017', 'score': 0.44}, {'connected_gene': 'GC18M022244', 'score': 0.34}]
chr18	GH18I021803	21803401	21803600	0.62	[{'connected_gene': 'MIB1', 'score': 16.26}, {'connected_gene': 'MIR133A1', 'score': 12.19}, {'connected_gene': 'MIR320C1', 'score': 10.61}, {'connected_gene': 'RN7SL233P', 'score': 0.44}, {'connected_gene': 'GC18P021818', 'score': 0.39}]
chr18	GH18I022263	22263089	22263885	0.49	[{'connected_gene': 'MIB1', 'score': 9.74}, {'connected_gene': 'LOC105372018', 'score': 0.77}, {'connected_gene': 'GC18P022249', 'score': 0.39}, {'connected_gene': 'GC18P022248', 'score': 0.37}]
chr18	GH18I021739	21739531	21743261	2.01	[{'connected_gene': 'MIB1', 'score': 556.98}, {'connected_gene': 'MIR320C1', 'score': 11.36}, {'connected_gene': 'ENSG00000200750', 'score': 0.37}, {'connected_gene': 'RN7SL233P', 'score': 0.23}]
chr18	GH18I021833	21833512	21834916	0.2	[{'connected_gene': 'MIB1', 'score': 15.34}, {'connected_gene': 'MIR320C1', 'score': 10.22}, {'connected_gene': 'MIR133A1HG', 'score': 0.77}, {'connected_gene': 'RPL34P32', 'score': 0.34}]
chr18	GH18I022687	22687774	22688627	0.46	[{'connected_gene': 'MIB1', 'score': 9.74}, {'connected_gene': 'GC18P022670', 'score': 0.37}, {'connected_gene': 'PIR60003', 'score': 0.15}]
chr18	GH18I021804	21803801	21804400	0.57	[{'connected_gene': 'MIR133A1', 'score': 12.19}, {'connected_gene': 'MIR320C1', 'score': 10.61}, {'connected_gene': 'MIB1', 'score': 10.27}, {'connected_gene': 'GC18P021818', 'score': 0.39}, {'connected_gene': 'RN7SL233P', 'score': 0.39}]
chr18	GH18I022163	22163305	22199675	3.14	[{'connected_gene': 'GATA6', 'score': 559.78}, {'connected_gene': 'RNU6-702P', 'score': 550.77}, {'connected_gene': 'GC18M022181', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 25.37}, {'connected_gene': 'RBBP8', 'score': 12.07}, {'connected_gene': 'MIB1', 'score': 11.2}, {'connected_gene': 'SNRPD1', 'score': 10.26}, {'connected_gene': 'LOC105372019', 'score': 5.69}, {'connected_gene': 'ENSG00000264012', 'score': 0.77}, {'connected_gene': 'GATA6-AS1', 'score': 0.39}, {'connected_gene': 'GC18M022162', 'score': 0.37}, {'connected_gene': 'ENSG00000266283', 'score': 0.34}]
chr18	GH18I021701	21701302	21705554	2.01	[{'connected_gene': 'ABHD3', 'score': 560.85}, {'connected_gene': 'MIB1', 'score': 550.77}, {'connected_gene': 'LOC105376866', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 16.77}, {'connected_gene': 'SNRPD1', 'score': 5.84}, {'connected_gene': 'MIR320C1', 'score': 0.37}]
chr18	GH18I022489	22489358	22495420	1.59	[{'connected_gene': 'ESCO1', 'score': 39.65}, {'connected_gene': 'MIB1', 'score': 23.6}, {'connected_gene': 'SNRPD1', 'score': 19.56}, {'connected_gene': 'RBBP8', 'score': 9.83}, {'connected_gene': 'MIR133A1HG', 'score': 4.12}, {'connected_gene': 'GC18P022454', 'score': 0.28}, {'connected_gene': 'RPS4XP18', 'score': 0.16}]
chr18	GH18I022465	22465444	22472941	2.05	[{'connected_gene': 'ESCO1', 'score': 13.22}, {'connected_gene': 'MIB1', 'score': 10.2}, {'connected_gene': 'GATA6', 'score': 1.48}, {'connected_gene': 'GC18P022454', 'score': 0.39}, {'connected_gene': 'RPS4XP18', 'score': 0.13}]
chr18	GH18I021684	21684529	21687851	1.18	[{'connected_gene': 'ESCO1', 'score': 13.36}, {'connected_gene': 'MIB1', 'score': 10.54}, {'connected_gene': 'ABHD3', 'score': 8.61}, {'connected_gene': 'MIR320C1', 'score': 0.77}]
chr18	GH18I021549	21549007	21549709	0.38	[{'connected_gene': 'ESCO1', 'score': 11.75}, {'connected_gene': 'ENSG00000199977', 'score': 10.45}, {'connected_gene': 'MIB1', 'score': 10.15}, {'connected_gene': 'MIR320C1', 'score': 10.07}, {'connected_gene': 'GC18P021594', 'score': 0.25}, {'connected_gene': 'LOC101927521', 'score': 0.15}]
chr18	GH18I021598	21598557	21602928	2.31	[{'connected_gene': 'ESCO1', 'score': 555.89}, {'connected_gene': 'GC18P021602', 'score': 550.77}, {'connected_gene': 'MIR320C1', 'score': 10.47}, {'connected_gene': 'MIB1', 'score': 10.37}, {'connected_gene': 'ENSG00000199977', 'score': 10.06}, {'connected_gene': 'ABHD3', 'score': 9.48}, {'connected_gene': 'SNRPD1', 'score': 6.07}, {'connected_gene': 'GC18P021594', 'score': 0.44}, {'connected_gene': 'GC18M021596', 'score': 0.34}]
chr18	GH18I021793	21793833	21794138	0.33	[{'connected_gene': 'RN7SL233P', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 6.88}, {'connected_gene': 'GC18P021818', 'score': 0.34}]
chr18	GH18I021825	21825590	21833459	0.57	[{'connected_gene': 'MIR133A1HG', 'score': 555.0}, {'connected_gene': 'MIR1-2', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 17.05}, {'connected_gene': 'MIR320C1', 'score': 10.47}, {'connected_gene': 'ABHD3', 'score': 4.92}, {'connected_gene': 'MIR133A1', 'score': 0.77}, {'connected_gene': 'GC18P021825', 'score': 0.77}]
chr18	GH18I021241	21241185	21243473	1.86	[{'connected_gene': 'LOC101927496', 'score': 550.77}, {'connected_gene': 'GREB1L', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 9.76}, {'connected_gene': 'ABHD3', 'score': 4.9}]
chr18	GH18I021614	21614174	21615013	0.31	[{'connected_gene': 'MIR320C1', 'score': 11.59}, {'connected_gene': 'MIB1', 'score': 11.06}, {'connected_gene': 'SNRPD1', 'score': 0.77}, {'connected_gene': 'GC18M021596', 'score': 0.44}]
chr18	GH18I021604	21604801	21605200	0.54	[{'connected_gene': 'MIR320C1', 'score': 10.47}, {'connected_gene': 'MIB1', 'score': 10.38}, {'connected_gene': 'ENSG00000199977', 'score': 10.06}, {'connected_gene': 'GC18P021602', 'score': 0.77}, {'connected_gene': 'SNRPD1', 'score': 0.44}, {'connected_gene': 'GC18M021596', 'score': 0.37}]
chr18	GH18I021679	21679993	21683652	0.93	[{'connected_gene': 'MIR320C1', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 10.25}, {'connected_gene': 'ABHD3', 'score': 8.26}, {'connected_gene': 'SNRPD1', 'score': 6.88}, {'connected_gene': 'ESCO1', 'score': 5.01}, {'connected_gene': 'ENSG00000265656', 'score': 0.44}]
chr18	GH18I021605	21605300	21605449	0.2	[{'connected_gene': 'MIR320C1', 'score': 10.47}, {'connected_gene': 'MIB1', 'score': 10.38}, {'connected_gene': 'ENSG00000199977', 'score': 10.06}, {'connected_gene': 'ESCO1', 'score': 6.01}, {'connected_gene': 'GC18P021602', 'score': 0.77}, {'connected_gene': 'SNRPD1', 'score': 0.44}, {'connected_gene': 'GC18M021596', 'score': 0.37}]
chr18	GH18I021727	21727465	21728636	0.54	[{'connected_gene': 'MIR320C1', 'score': 11.02}, {'connected_gene': 'ENSG00000200750', 'score': 0.77}, {'connected_gene': 'MIB1', 'score': 0.34}, {'connected_gene': 'RN7SL233P', 'score': 0.2}]
chr18	GH18I021735	21735110	21736487	1.13	[{'connected_gene': 'MIR320C1', 'score': 11.3}, {'connected_gene': 'MIB1', 'score': 6.0}, {'connected_gene': 'MIR133A1HG', 'score': 4.79}, {'connected_gene': 'ENSG00000200750', 'score': 0.39}, {'connected_gene': 'RN7SL233P', 'score': 0.22}]
chr18	GH18I021852	21852517	21853654	0.66	[{'connected_gene': 'RPL34P32', 'score': 550.77}, {'connected_gene': 'ENSG00000199977', 'score': 11.82}, {'connected_gene': 'MIR1-2', 'score': 11.4}, {'connected_gene': 'MIR133A1', 'score': 11.34}, {'connected_gene': 'MIR320C1', 'score': 10.4}, {'connected_gene': 'MIR133A1HG', 'score': 0.34}, {'connected_gene': 'MIB1', 'score': 0.11}]
chr18	GH18I021877	21877668	21877939	0.22	[{'connected_gene': 'GC18P021880', 'score': 550.77}, {'connected_gene': 'RNU6-1038P', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 4.97}, {'connected_gene': 'ENSG00000264149', 'score': 0.37}, {'connected_gene': 'RPL34P32', 'score': 0.34}]
chr18	GH18I021722	21722820	21722929	0.31	[{'connected_gene': 'GC18P021725', 'score': 550.77}, {'connected_gene': 'ENSG00000200750', 'score': 550.77}, {'connected_gene': 'MIR320C1', 'score': 11.04}, {'connected_gene': 'ENSG00000252677', 'score': 0.39}, {'connected_gene': 'GC18M021713', 'score': 0.39}, {'connected_gene': 'MIB1', 'score': 0.37}]