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
ENST00000484834	[[203181954, 203182173], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203209590, 203209648], [203209754, 203209786], [203237645, 203241937]]	None
ENST00000479483	[[203181962, 203182173], [203186866, 203187149]]	None
ENST00000367229	[[203185206, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198799]]	[[203186016, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]
ENST00000491855	[[203185797, 203186261], [203186429, 203186500], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198773]]	[[203186492, 203186500], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]
ENST00000255427	[[203185797, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194796, 203194998], [203197660, 203197690], [203198739, 203198799]]	[[203186016, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]
ENST00000535569	[[203185797, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194796, 203194998], [203197660, 203197690], [203198739, 203198799]]	[[203186016, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194796, 203194998], [203197660, 203197690], [203198739, 203198794]]
ENST00000503786	[[203186075, 203186261], [203186429, 203186500], [203186866, 203186993], [203187062, 203187219], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198799]]	[[203187162, 203187219], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]
ENST00000506427	[[203188701, 203188977], [203191329, 203191438]]	None
ENST00000513472	[[203192715, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203199142, 203199212], [203209590, 203209648], [203209754, 203209786], [203229929, 203229990]]	None
ENST00000460619	[[203209457, 203209556], [203209754, 203209786], [203242503, 203242769]]	None
NR_045784	[[203185206, 203186261], [203186429, 203186500], [203186866, 203186993], [203187062, 203187219], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198860]]	None
NR_045785	[[203185206, 203186261], [203186429, 203186500], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198860]]	None
NM_003465	[[203185206, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198860]]	[[203186016, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]
NM_001270509	[[203185206, 203186261], [203186866, 203186906], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192376], [203192659, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198860]]	[[203186016, 203186261], [203186866, 203186906], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192376], [203192659, 203192788], [203194175, 203194232], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]
NM_001256125	[[203185206, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194796, 203194998], [203197660, 203197690], [203198739, 203198860]]	[[203186016, 203186261], [203186866, 203186993], [203188343, 203188457], [203188791, 203188977], [203191329, 203191453], [203192262, 203192387], [203192622, 203192788], [203194796, 203194998], [203197660, 203197690], [203198739, 203198764]]

Promoter

Chrom	Start	End	Description
chr1	203198790	203198807	CAGE_peak_1_at_CHIT1_5end
chr1	203243135	203243148	CAGE_peak_3_at_CHIT1_5end
chr1	203243149	203243193	CAGE_peak_2_at_CHIT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I203276	203276452	203284323	1.57	[{'connected_gene': 'BTG2', 'score': 19.58}, {'connected_gene': 'SNRPE', 'score': 14.95}, {'connected_gene': 'LINC01136', 'score': 13.26}, {'connected_gene': 'RNU6-487P', 'score': 13.05}, {'connected_gene': 'LOC100506672', 'score': 10.87}, {'connected_gene': 'KDM5B', 'score': 10.76}, {'connected_gene': 'ZBED6', 'score': 10.72}, {'connected_gene': 'ZC3H11A', 'score': 10.48}, {'connected_gene': 'FMOD', 'score': 10.28}, {'connected_gene': 'LOC100131747', 'score': 10.28}, {'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 9.59}, {'connected_gene': 'LINC01353', 'score': 6.43}, {'connected_gene': 'RABIF', 'score': 1.28}, {'connected_gene': 'TMEM183A', 'score': 1.27}, {'connected_gene': 'CHIT1', 'score': 0.44}, {'connected_gene': 'GC01P203263', 'score': 0.37}]
chr1	GH01I203266	203266853	203268209	1.27	[{'connected_gene': 'LINC01136', 'score': 11.7}, {'connected_gene': 'BTG2', 'score': 11.7}, {'connected_gene': 'RNU6-487P', 'score': 11.63}, {'connected_gene': 'PPFIA4', 'score': 11.52}, {'connected_gene': 'FMOD', 'score': 10.83}, {'connected_gene': 'LOC100131747', 'score': 10.82}, {'connected_gene': 'ADORA1', 'score': 10.68}, {'connected_gene': 'ENSG00000224671', 'score': 10.6}, {'connected_gene': 'OPTC', 'score': 10.53}, {'connected_gene': 'CHI3L1', 'score': 10.27}, {'connected_gene': 'PRELP', 'score': 10.04}, {'connected_gene': 'GC01P203263', 'score': 0.77}, {'connected_gene': 'CHIT1', 'score': 0.44}]
chr1	GH01I203268	203268544	203269662	1.27	[{'connected_gene': 'LINC01136', 'score': 11.7}, {'connected_gene': 'BTG2', 'score': 11.7}, {'connected_gene': 'RNU6-487P', 'score': 11.65}, {'connected_gene': 'OPTC', 'score': 10.53}, {'connected_gene': 'FMOD', 'score': 10.36}, {'connected_gene': 'LOC100131747', 'score': 10.36}, {'connected_gene': 'PRELP', 'score': 9.85}, {'connected_gene': 'CHIT1', 'score': 7.87}, {'connected_gene': 'GC01P203263', 'score': 0.44}]
chr1	GH01I203270	203270895	203271625	1.19	[{'connected_gene': 'SNRPE', 'score': 17.24}, {'connected_gene': 'ZC3H11A', 'score': 16.09}, {'connected_gene': 'ZBED6', 'score': 13.21}, {'connected_gene': 'SOX13', 'score': 10.9}, {'connected_gene': 'CHIT1', 'score': 8.16}, {'connected_gene': 'GC01P203263', 'score': 0.44}]
chr1	GH01I203205	203205133	203208493	0.69	[{'connected_gene': 'MYBPH', 'score': 11.35}, {'connected_gene': 'ENSG00000224671', 'score': 11.04}, {'connected_gene': 'ADORA1', 'score': 10.93}, {'connected_gene': 'MYOG', 'score': 10.91}, {'connected_gene': 'PPFIA4', 'score': 10.56}, {'connected_gene': 'CHIT1', 'score': 7.89}, {'connected_gene': 'KRT8P29', 'score': 4.8}, {'connected_gene': 'CHI3L1', 'score': 0.37}, {'connected_gene': 'NPM1P40', 'score': 0.25}]
chr1	GH01I203199	203199177	203203993	1.07	[{'connected_gene': 'MYBPH', 'score': 22.06}, {'connected_gene': 'ADORA1', 'score': 21.66}, {'connected_gene': 'ENSG00000224671', 'score': 11.27}, {'connected_gene': 'ENSG00000234775', 'score': 10.84}, {'connected_gene': 'MYOG', 'score': 10.45}, {'connected_gene': 'FMOD', 'score': 9.86}, {'connected_gene': 'LOC100131747', 'score': 9.86}, {'connected_gene': 'OPTC', 'score': 9.12}, {'connected_gene': 'CHIT1', 'score': 7.57}, {'connected_gene': 'CHI3L1', 'score': 7.28}, {'connected_gene': 'KDM5B', 'score': 5.48}, {'connected_gene': 'KRT8P29', 'score': 4.84}, {'connected_gene': 'NPM1P40', 'score': 0.23}]
chr1	GH01I203214	203214831	203215600	0.2	[{'connected_gene': 'MYBPH', 'score': 11.86}, {'connected_gene': 'CHI3L1', 'score': 11.8}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.11}, {'connected_gene': 'MYOG', 'score': 11.04}, {'connected_gene': 'FMOD', 'score': 10.03}, {'connected_gene': 'LOC100131747', 'score': 10.03}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.26}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1	GH01I203216	203216293	203216600	0.91	[{'connected_gene': 'MYBPH', 'score': 11.85}, {'connected_gene': 'CHI3L1', 'score': 11.8}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.11}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'FMOD', 'score': 10.03}, {'connected_gene': 'LOC100131747', 'score': 10.03}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.28}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1	GH01I203217	203217401	203217800	0.38	[{'connected_gene': 'MYBPH', 'score': 11.85}, {'connected_gene': 'CHI3L1', 'score': 11.78}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.1}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'LOC100131747', 'score': 10.31}, {'connected_gene': 'FMOD', 'score': 10.31}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.28}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1	GH01I203250	203250233	203251883	0.43	[{'connected_gene': 'ADORA1', 'score': 10.98}, {'connected_gene': 'ENSG00000224671', 'score': 10.56}, {'connected_gene': 'MYOG', 'score': 10.54}, {'connected_gene': 'CHI3L1', 'score': 10.54}, {'connected_gene': 'FMOD', 'score': 10.48}, {'connected_gene': 'LOC100131747', 'score': 10.48}, {'connected_gene': 'OPTC', 'score': 10.19}, {'connected_gene': 'NPM1P40', 'score': 0.77}, {'connected_gene': 'CHIT1', 'score': 0.34}]
chr1	GH01I203272	203272601	203276155	1.69	[{'connected_gene': 'CHIT1', 'score': 559.17}, {'connected_gene': 'BTG2', 'score': 25.73}, {'connected_gene': 'LINC01136', 'score': 13.08}, {'connected_gene': 'RNU6-487P', 'score': 12.47}, {'connected_gene': 'FMOD', 'score': 10.28}, {'connected_gene': 'LOC100131747', 'score': 10.28}, {'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 9.59}, {'connected_gene': 'GC01P203263', 'score': 0.39}, {'connected_gene': 'LINC01353', 'score': 0.39}]
chr1	GH01I203335	203335188	203337210	0.31	[{'connected_gene': 'CHIT1', 'score': 12.93}, {'connected_gene': 'LINC01136', 'score': 12.39}, {'connected_gene': 'BTG2', 'score': 12.39}, {'connected_gene': 'OPTC', 'score': 11.26}, {'connected_gene': 'PRELP', 'score': 10.3}, {'connected_gene': 'FMOD', 'score': 5.06}, {'connected_gene': 'GC01M203320', 'score': 0.37}, {'connected_gene': 'RNU6-487P', 'score': 0.37}]
chr1	GH01I203338	203338400	203340822	1.25	[{'connected_gene': 'CHIT1', 'score': 12.92}, {'connected_gene': 'LINC01136', 'score': 12.39}, {'connected_gene': 'BTG2', 'score': 12.39}, {'connected_gene': 'RNU6-487P', 'score': 11.49}, {'connected_gene': 'OPTC', 'score': 11.26}, {'connected_gene': 'PRELP', 'score': 10.43}, {'connected_gene': 'ATP2B4', 'score': 9.96}, {'connected_gene': 'ADORA1', 'score': 9.8}, {'connected_gene': 'ENSG00000224671', 'score': 9.63}, {'connected_gene': 'FMOD', 'score': 4.93}, {'connected_gene': 'GC01M203320', 'score': 0.34}]
chr1	GH01I203227	203227401	203229800	0.99	[{'connected_gene': 'CHIT1', 'score': 559.78}, {'connected_gene': 'ADORA1', 'score': 15.1}, {'connected_gene': 'CHI3L1', 'score': 11.5}, {'connected_gene': 'MYBPH', 'score': 11.27}, {'connected_gene': 'MYOG', 'score': 10.88}, {'connected_gene': 'ENSG00000224671', 'score': 10.77}, {'connected_gene': 'OPTC', 'score': 10.19}, {'connected_gene': 'LOC100131747', 'score': 10.09}, {'connected_gene': 'FMOD', 'score': 10.09}, {'connected_gene': 'PRELP', 'score': 9.66}, {'connected_gene': 'NPM1P40', 'score': 0.31}]
chr1	GH01I203228	203227001	203227200	0.2	[{'connected_gene': 'CHI3L1', 'score': 11.5}, {'connected_gene': 'MYBPH', 'score': 10.94}, {'connected_gene': 'ADORA1', 'score': 10.89}, {'connected_gene': 'ENSG00000224671', 'score': 10.78}, {'connected_gene': 'LOC100131747', 'score': 9.94}, {'connected_gene': 'FMOD', 'score': 9.93}, {'connected_gene': 'OPTC', 'score': 9.75}, {'connected_gene': 'PRELP', 'score': 9.66}, {'connected_gene': 'NPM1P40', 'score': 0.31}, {'connected_gene': 'CHIT1', 'score': 0.25}]
chr1	GH01I202835	202835181	202838202	0.72	[{'connected_gene': 'KDM5B', 'score': 42.74}, {'connected_gene': 'PCAT6', 'score': 17.13}, {'connected_gene': 'RABIF', 'score': 11.44}, {'connected_gene': 'CYB5R1', 'score': 10.12}, {'connected_gene': 'CHIT1', 'score': 5.28}, {'connected_gene': 'MGAT4EP', 'score': 0.37}, {'connected_gene': 'LOC730222', 'score': 0.34}]
chr1	GH01I203295	203295158	203297876	1.13	[{'connected_gene': 'RNU6-487P', 'score': 12.87}, {'connected_gene': 'CHIT1', 'score': 12.06}, {'connected_gene': 'BTG2', 'score': 4.45}, {'connected_gene': 'LINC01353', 'score': 0.44}, {'connected_gene': 'LINC01136', 'score': 0.44}]
chr1	GH01I203244	203244476	203245741	0.8	[{'connected_gene': 'NPM1P40', 'score': 0.39}, {'connected_gene': 'CHIT1', 'score': 0.31}, {'connected_gene': 'CHI3L1', 'score': 0.22}]
chr1	GH01I203263	203263333	203265235	1.1	[{'connected_gene': 'GC01P203263', 'score': 550.77}, {'connected_gene': 'RNU6-487P', 'score': 11.5}, {'connected_gene': 'LINC01136', 'score': 11.3}, {'connected_gene': 'BTG2', 'score': 11.3}, {'connected_gene': 'FMOD', 'score': 10.82}, {'connected_gene': 'LOC100131747', 'score': 10.82}, {'connected_gene': 'ADORA1', 'score': 10.68}, {'connected_gene': 'ENSG00000224671', 'score': 10.6}, {'connected_gene': 'OPTC', 'score': 10.44}, {'connected_gene': 'CHI3L1', 'score': 10.28}, {'connected_gene': 'PRELP', 'score': 10.04}, {'connected_gene': 'CHIT1', 'score': 8.0}]