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
ENST00000538401	[[68451246, 68451594], [68451808, 68452106]]	None
ENST00000265643	[[68451942, 68452200], [68452391, 68452472], [68453061, 68453116], [68455481, 68455568], [68456316, 68456394], [68458384, 68458643]]	[[68452391, 68452472], [68453061, 68453116], [68455481, 68455568], [68456316, 68456394], [68458384, 68458455]]
NM_015973	[[68451942, 68452200], [68452391, 68452472], [68453061, 68453116], [68455481, 68455568], [68456316, 68456394], [68458384, 68458643]]	[[68452391, 68452472], [68453061, 68453116], [68455481, 68455568], [68456316, 68456394], [68458384, 68458455]]

Promoter

Chrom	Start	End	Description
chr11	68451165	68451175	CAGE_peak_4_at_GAL_5end
chr11	68451232	68451268	CAGE_peak_5_at_GAL_5end
chr11	68451973	68451986	CAGE_peak_2_at_GAL_5end
chr11	68452002	68452019	CAGE_peak_1_at_GAL_5end
chr11	68458387	68458424	CAGE_peak_3_at_GAL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I068658	68658518	68659960	0.85	[{'connected_gene': 'TESMIN', 'score': 16.88}, {'connected_gene': 'GAL', 'score': 12.99}, {'connected_gene': 'PPP6R3', 'score': 5.62}, {'connected_gene': 'ENSG00000260808', 'score': 0.26}]
chr11	GH11I068693	68693895	68695430	0.31	[{'connected_gene': 'TESMIN', 'score': 22.85}, {'connected_gene': 'GAL', 'score': 11.27}, {'connected_gene': 'IGHMBP2', 'score': 10.08}, {'connected_gene': 'MRPL21', 'score': 10.08}]
chr11	GH11I068776	68776093	68776362	0.63	[{'connected_gene': 'TESMIN', 'score': 12.12}, {'connected_gene': 'GAL', 'score': 5.48}, {'connected_gene': 'PIR50743', 'score': 0.77}, {'connected_gene': 'GC11M068799', 'score': 0.34}, {'connected_gene': 'CPT1A', 'score': 0.2}]
chr11	GH11I068689	68689653	68690602	0.31	[{'connected_gene': 'TESMIN', 'score': 21.03}, {'connected_gene': 'GAL', 'score': 0.44}]
chr11	GH11I068690	68690773	68690922	0.38	[{'connected_gene': 'TESMIN', 'score': 11.0}, {'connected_gene': 'GAL', 'score': 0.44}]
chr11	GH11I068748	68748960	68752142	1.89	[{'connected_gene': 'TESMIN', 'score': 564.78}, {'connected_gene': 'GAL', 'score': 0.2}]
chr11	GH11I068632	68632913	68633082	0.62	[{'connected_gene': 'TESMIN', 'score': 10.62}, {'connected_gene': 'ENSG00000260808', 'score': 0.37}, {'connected_gene': 'GAL', 'score': 0.23}]
chr11	GH11I068706	68706333	68706482	0.31	[{'connected_gene': 'TESMIN', 'score': 24.82}, {'connected_gene': 'GAL', 'score': 12.34}]
chr11	GH11I068735	68735001	68736037	0.2	[{'connected_gene': 'TESMIN', 'score': 0.37}, {'connected_gene': 'GAL', 'score': 0.23}]
chr11	GH11I068780	68780973	68781142	0.66	[{'connected_gene': 'TESMIN', 'score': 11.84}, {'connected_gene': 'MRGPRF-AS1', 'score': 9.7}, {'connected_gene': 'MRGPRF', 'score': 9.7}, {'connected_gene': 'GAL', 'score': 8.52}, {'connected_gene': 'PIR50743', 'score': 0.44}, {'connected_gene': 'GC11M068799', 'score': 0.37}, {'connected_gene': 'CPT1A', 'score': 0.21}]
chr11	GH11I068410	68410712	68415186	1.01	[{'connected_gene': 'PPP6R3', 'score': 20.2}, {'connected_gene': 'UNC93B1', 'score': 12.59}, {'connected_gene': 'GAL', 'score': 5.18}, {'connected_gene': 'GC11P068382', 'score': 0.29}, {'connected_gene': 'GC11P068379', 'score': 0.29}, {'connected_gene': 'GC11M068452', 'score': 0.28}, {'connected_gene': 'LRP5', 'score': 0.14}]
chr11	GH11I068395	68395982	68401618	0.99	[{'connected_gene': 'PPP6R3', 'score': 8.1}, {'connected_gene': 'GAL', 'score': 4.78}, {'connected_gene': 'TESMIN', 'score': 4.39}, {'connected_gene': 'GC11P068382', 'score': 0.37}, {'connected_gene': 'GC11P068379', 'score': 0.37}, {'connected_gene': 'GC11M068452', 'score': 0.23}, {'connected_gene': 'LRP5', 'score': 0.15}]
chr11	GH11I068405	68405707	68407571	0.66	[{'connected_gene': 'PPP6R3', 'score': 19.55}, {'connected_gene': 'GAL', 'score': 4.74}, {'connected_gene': 'GC11P068382', 'score': 0.34}, {'connected_gene': 'GC11P068379', 'score': 0.31}, {'connected_gene': 'GC11M068452', 'score': 0.25}, {'connected_gene': 'LRP5', 'score': 0.14}]
chr11	GH11I068422	68422237	68423006	0.2	[{'connected_gene': 'PPP6R3', 'score': 9.24}, {'connected_gene': 'GAL', 'score': 6.04}, {'connected_gene': 'GC11M068452', 'score': 0.31}, {'connected_gene': 'GC11P068382', 'score': 0.28}, {'connected_gene': 'GC11P068379', 'score': 0.26}, {'connected_gene': 'LRP5', 'score': 0.13}]
chr11	GH11I068436	68436485	68438539	0.98	[{'connected_gene': 'PPP6R3', 'score': 9.41}, {'connected_gene': 'GAL', 'score': 8.53}, {'connected_gene': 'GC11M068452', 'score': 0.37}, {'connected_gene': 'GC11P068382', 'score': 0.23}, {'connected_gene': 'LRP5', 'score': 0.12}]
chr11	GH11I068532	68532177	68534244	0.77	[{'connected_gene': 'PPP6R3', 'score': 26.48}, {'connected_gene': 'GAL', 'score': 14.28}, {'connected_gene': 'GC11P068559', 'score': 0.31}, {'connected_gene': 'NDUFA3P2', 'score': 0.26}]
chr11	GH11I068651	68651633	68651782	0.2	[{'connected_gene': 'GAL', 'score': 11.86}, {'connected_gene': 'TESMIN', 'score': 11.0}, {'connected_gene': 'IGHMBP2', 'score': 9.42}, {'connected_gene': 'MRPL21', 'score': 9.42}, {'connected_gene': 'MRGPRF', 'score': 6.35}, {'connected_gene': 'ENSG00000260808', 'score': 0.29}]
chr11	GH11I068660	68660682	68661046	0.31	[{'connected_gene': 'GAL', 'score': 12.99}, {'connected_gene': 'TESMIN', 'score': 10.81}, {'connected_gene': 'ENSG00000260808', 'score': 0.26}]
chr11	GH11I068684	68684495	68684554	0.98	[{'connected_gene': 'GAL', 'score': 558.23}, {'connected_gene': 'TESMIN', 'score': 0.2}]
chr11	GH11I068638	68638826	68639663	0.2	[{'connected_gene': 'GAL', 'score': 28.53}, {'connected_gene': 'TESMIN', 'score': 11.2}, {'connected_gene': 'ENSG00000260808', 'score': 0.34}]
chr11	GH11I068447	68447037	68447868	0.71	[{'connected_gene': 'GAL', 'score': 14.26}, {'connected_gene': 'PPP6R3', 'score': 5.31}, {'connected_gene': 'GC11M068452', 'score': 0.44}, {'connected_gene': 'GC11P068382', 'score': 0.21}, {'connected_gene': 'LRP5', 'score': 0.11}]
chr11	GH11I068441	68441090	68442522	0.8	[{'connected_gene': 'GAL', 'score': 13.64}, {'connected_gene': 'PPP6R3', 'score': 9.47}, {'connected_gene': 'GC11M068452', 'score': 0.39}, {'connected_gene': 'GC11P068382', 'score': 0.22}, {'connected_gene': 'LRP5', 'score': 0.11}]
chr11	GH11I068438	68438766	68440848	0.49	[{'connected_gene': 'GAL', 'score': 9.24}, {'connected_gene': 'GC11M068452', 'score': 0.39}, {'connected_gene': 'GC11P068382', 'score': 0.22}, {'connected_gene': 'LRP5', 'score': 0.11}]
chr11	GH11I068432	68432005	68433090	0.43	[{'connected_gene': 'GAL', 'score': 6.1}, {'connected_gene': 'GC11M068452', 'score': 0.34}, {'connected_gene': 'GC11P068382', 'score': 0.25}, {'connected_gene': 'LRP5', 'score': 0.12}]
chr11	GH11I068677	68677458	68678102	0.82	[{'connected_gene': 'GAL', 'score': 0.44}, {'connected_gene': 'ENSG00000260808', 'score': 0.21}]
chr11	GH11I069007	69006889	69006910	0.4	[{'connected_gene': 'IGHMBP2', 'score': 10.26}, {'connected_gene': 'MRPL21', 'score': 10.26}, {'connected_gene': 'GAL', 'score': 9.59}, {'connected_gene': 'ORAOV1', 'score': 8.75}, {'connected_gene': 'ENSG00000261276', 'score': 0.77}, {'connected_gene': 'MRGPRF-AS1', 'score': 0.44}, {'connected_gene': 'MRGPRF', 'score': 0.44}]
chr11	GH11I069504	69504356	69505931	0.31	[{'connected_gene': 'ORAOV1', 'score': 10.44}, {'connected_gene': 'GAL', 'score': 4.64}, {'connected_gene': 'GC11P069489', 'score': 0.37}, {'connected_gene': 'GC11P069613', 'score': 0.14}]
chr11	GH11I069006	69006988	69015975	2.36	[{'connected_gene': 'MRGPRF', 'score': 554.8}, {'connected_gene': 'MRGPRF-AS1', 'score': 550.77}, {'connected_gene': 'IGHMBP2', 'score': 45.13}, {'connected_gene': 'ENSG00000261625', 'score': 29.61}, {'connected_gene': 'MRPL21', 'score': 17.0}, {'connected_gene': 'PPP6R3', 'score': 11.65}, {'connected_gene': 'GAL', 'score': 9.58}, {'connected_gene': 'ORAOV1', 'score': 8.75}, {'connected_gene': 'ENSG00000261276', 'score': 0.44}]
chr11	GH11I068045	68045790	68047100	0.46	[{'connected_gene': 'MIR6753', 'score': 550.77}, {'connected_gene': 'PPP6R3', 'score': 18.05}, {'connected_gene': 'ENSG00000255031', 'score': 17.98}, {'connected_gene': 'ENSG00000260808', 'score': 13.56}, {'connected_gene': 'MRGPRF-AS1', 'score': 13.53}, {'connected_gene': 'MRGPRF', 'score': 12.43}, {'connected_gene': 'KDM2A', 'score': 12.01}, {'connected_gene': 'KMT5B', 'score': 11.98}, {'connected_gene': 'ENSG00000261625', 'score': 11.84}, {'connected_gene': 'TCIRG1', 'score': 10.26}, {'connected_gene': 'GAL', 'score': 4.37}]
chr11	GH11I068798	68798333	68798522	0.57	[{'connected_gene': 'GC11M068799', 'score': 550.77}, {'connected_gene': 'TESMIN', 'score': 15.63}, {'connected_gene': 'GAL', 'score': 6.69}, {'connected_gene': 'PIR50743', 'score': 0.34}, {'connected_gene': 'CPT1A', 'score': 0.25}]
chr11	GH11I068997	68997966	69005630	1.18	[{'connected_gene': 'ENSG00000261625', 'score': 579.05}, {'connected_gene': 'IGHMBP2', 'score': 33.72}, {'connected_gene': 'MRPL21', 'score': 17.32}, {'connected_gene': 'GAL', 'score': 9.59}, {'connected_gene': 'ORAOV1', 'score': 9.26}, {'connected_gene': 'MRGPRF-AS1', 'score': 8.64}, {'connected_gene': 'MRGPRD', 'score': 5.74}, {'connected_gene': 'ENSG00000261276', 'score': 0.77}, {'connected_gene': 'MRGPRF', 'score': 0.39}]