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
ENST00000565858	[[68263013, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266273, 68266406], [68266479, 68266620], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68270035]]	[[68264128, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266273, 68266406], [68266479, 68266620], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68269948]]
ENST00000251366	[[68263019, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266479, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68269973]]	None
ENST00000473183	[[68263028, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266273, 68266406], [68266479, 68266590], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68270487]]	[[68264128, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266273, 68266406], [68266479, 68266590], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68269948]]
ENST00000566774	[[68263304, 68264218], [68264291, 68264457], [68264743, 68264930], [68265198, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266479, 68266590], [68266663, 68266718]]	[[68266160, 68266191], [68266479, 68266590], [68266663, 68266718]]
ENST00000565213	[[68265869, 68266006], [68266148, 68266409]]	None
ENST00000562738	[[68266443, 68266587], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268073]]	None
ENST00000562567	[[68267074, 68267328], [68267670, 68267785], [68267896, 68268906]]	None
ENST00000569964	[[68267101, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269652]]	None
ENST00000563159	[[68267240, 68267785], [68267896, 68268067]]	None
ENST00000564465	[[68267240, 68267785], [68267896, 68268010], [68269536, 68269611]]	None
ENST00000564382	[[68267259, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68269782], [68271837, 68271970]]	[[68267259, 68267328], [68267670, 68267785], [68267896, 68267959]]
ENST00000562724	[[68267718, 68267785], [68267896, 68268010], [68269536, 68269665], [68271837, 68272005]]	[[68267718, 68267785], [68267896, 68267959]]
NM_024939	[[68262449, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266273, 68266406], [68266479, 68266590], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68270136]]	[[68264128, 68264218], [68264291, 68264457], [68264743, 68264930], [68265080, 68265279], [68265384, 68265597], [68265704, 68266006], [68266148, 68266191], [68266273, 68266406], [68266479, 68266590], [68266663, 68266718], [68267229, 68267328], [68267670, 68267785], [68267896, 68268010], [68269536, 68269665], [68269750, 68269948]]

Promoter

Chrom	Start	End	Description
chr16	68269971	68270059	CAGE_peak_1_at_ESRP2_5end
chr16	68270072	68270086	CAGE_peak_2_at_ESRP2_5end
chr16	68270128	68270137	CAGE_peak_6_at_ESRP2_5end
chr16	68270155	68270179	CAGE_peak_4_at_ESRP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I068239	68239617	68240400	1.02	[{'connected_gene': 'ESRP2', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 12.96}, {'connected_gene': 'PLA2G15', 'score': 0.44}]
chr16	GH16I068203	68203278	68203627	0.2	[{'connected_gene': 'ESRP2', 'score': 11.43}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.46}, {'connected_gene': 'PRMT7', 'score': 10.28}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'ENSG00000279621', 'score': 0.77}, {'connected_gene': 'RPS12P27', 'score': 0.44}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16	GH16I068233	68233258	68238493	2.62	[{'connected_gene': 'ESRP2', 'score': 551.97}, {'connected_gene': 'ENSG00000261469', 'score': 550.77}, {'connected_gene': 'CTCF', 'score': 14.36}, {'connected_gene': 'ENSG00000270165', 'score': 13.05}, {'connected_gene': 'DUS2', 'score': 12.53}, {'connected_gene': 'SNTB2', 'score': 12.49}, {'connected_gene': 'PRMT7', 'score': 12.09}, {'connected_gene': 'RANBP10', 'score': 11.26}, {'connected_gene': 'CHTF8', 'score': 11.19}, {'connected_gene': 'ENSG00000263276', 'score': 10.75}, {'connected_gene': 'EDC4', 'score': 10.48}, {'connected_gene': 'ENSG00000262514', 'score': 10.32}, {'connected_gene': 'SLC12A4', 'score': 2.38}, {'connected_gene': 'TSNAXIP1', 'score': 1.85}, {'connected_gene': 'MIR6773', 'score': 0.77}]
chr16	GH16I068951	68951777	68953044	0.69	[{'connected_gene': 'SNTB2', 'score': 10.27}, {'connected_gene': 'ENSG00000200164', 'score': 10.27}, {'connected_gene': 'RNU4-36P', 'score': 9.44}, {'connected_gene': 'ENSG00000252443', 'score': 8.4}, {'connected_gene': 'WWP2', 'score': 8.4}, {'connected_gene': 'CDH1', 'score': 7.03}, {'connected_gene': 'ESRP2', 'score': 3.67}, {'connected_gene': 'ENSG00000260999', 'score': 0.77}, {'connected_gene': 'GC16M069007', 'score': 0.23}, {'connected_gene': 'TANGO6', 'score': 0.14}]
chr16	GH16I068204	68204744	68205553	0.2	[{'connected_gene': 'PRMT7', 'score': 22.71}, {'connected_gene': 'ESRP2', 'score': 11.67}, {'connected_gene': 'PLA2G15', 'score': 11.64}, {'connected_gene': 'SLC7A6', 'score': 10.78}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'NFATC3', 'score': 10.22}, {'connected_gene': 'RANBP10', 'score': 4.47}, {'connected_gene': 'ENSG00000279621', 'score': 0.77}, {'connected_gene': 'RPS12P27', 'score': 0.77}]
chr16	GH16I068205	68204150	68204645	0.2	[{'connected_gene': 'PRMT7', 'score': 21.9}, {'connected_gene': 'DUS2', 'score': 13.32}, {'connected_gene': 'ESRP2', 'score': 11.43}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.47}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'ENSG00000279621', 'score': 0.77}, {'connected_gene': 'RPS12P27', 'score': 0.77}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16	GH16I068663	68663306	68670017	0.99	[{'connected_gene': 'ZFP90', 'score': 20.47}, {'connected_gene': 'CDH3', 'score': 12.43}, {'connected_gene': 'ENSG00000252040', 'score': 12.36}, {'connected_gene': 'ENSG00000252640', 'score': 12.36}, {'connected_gene': 'CDH1', 'score': 4.65}, {'connected_gene': 'ESRP2', 'score': 1.93}, {'connected_gene': 'LOC100418868', 'score': 0.39}, {'connected_gene': 'HSPE1P5', 'score': 0.37}]
chr16	GH16I068230	68230917	68232938	0.52	[{'connected_gene': 'MIR6773', 'score': 550.77}, {'connected_gene': 'ENSG00000262160', 'score': 0.77}, {'connected_gene': 'ESRP2', 'score': 0.44}]
chr16	GH16I068200	68200430	68201029	0.72	[{'connected_gene': 'ENSG00000279621', 'score': 550.77}, {'connected_gene': 'ENSG00000262514', 'score': 550.77}, {'connected_gene': 'ESRP2', 'score': 11.41}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.46}, {'connected_gene': 'PRMT7', 'score': 10.27}, {'connected_gene': 'SLC7A6OS', 'score': 10.27}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16	GH16I068227	68227271	68229667	0.96	[{'connected_gene': 'ENSG00000262160', 'score': 550.77}, {'connected_gene': 'PIR35458', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 21.88}, {'connected_gene': 'SLC7A6', 'score': 12.07}, {'connected_gene': 'ENSG00000212445', 'score': 10.87}, {'connected_gene': 'NFATC3', 'score': 10.56}, {'connected_gene': 'SLC7A6OS', 'score': 10.35}, {'connected_gene': 'NRN1L', 'score': 9.31}, {'connected_gene': 'ENSG00000263276', 'score': 0.77}, {'connected_gene': 'ESRP2', 'score': 0.44}]
chr16	GH16I068201	68201256	68202653	0.77	[{'connected_gene': 'ENSG00000279621', 'score': 550.77}, {'connected_gene': 'ZFP90', 'score': 12.64}, {'connected_gene': 'ESRP2', 'score': 11.41}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.46}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'PRMT7', 'score': 10.28}, {'connected_gene': 'RPS12P27', 'score': 0.44}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16	GH16I068209	68209174	68210042	0.2	[{'connected_gene': 'GC16P068209', 'score': 550.77}, {'connected_gene': 'RPS12P27', 'score': 550.77}, {'connected_gene': 'ESRP2', 'score': 11.97}, {'connected_gene': 'PLA2G15', 'score': 11.94}, {'connected_gene': 'DUS2', 'score': 11.77}, {'connected_gene': 'SLC7A6', 'score': 11.23}, {'connected_gene': 'NFATC3', 'score': 10.18}, {'connected_gene': 'SLC7A6OS', 'score': 9.76}, {'connected_gene': 'PRMT7', 'score': 9.76}, {'connected_gene': 'EDC4', 'score': 9.32}, {'connected_gene': 'ENSG00000260891', 'score': 0.39}]
chr16	GH16I068210	68210445	68212172	0.63	[{'connected_gene': 'GC16P068209', 'score': 550.77}, {'connected_gene': 'RPS12P27', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 22.12}, {'connected_gene': 'DUS2', 'score': 13.31}, {'connected_gene': 'ESRP2', 'score': 11.97}, {'connected_gene': 'PLA2G15', 'score': 11.95}, {'connected_gene': 'SLC7A6', 'score': 11.23}, {'connected_gene': 'NFATC3', 'score': 10.18}, {'connected_gene': 'SLC7A6OS', 'score': 9.77}, {'connected_gene': 'EDC4', 'score': 9.32}, {'connected_gene': 'DPEP2', 'score': 8.28}, {'connected_gene': 'ENSG00000260891', 'score': 0.39}]