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
ENST00000552032	[[70219083, 70219343], [70249059, 70249150], [70272807, 70272875], [70272974, 70273233], [70273980, 70274072], [70280599, 70280750], [70284750, 70284946], [70287543, 70287620], [70289150, 70289261], [70290935, 70291026], [70297423, 70297624], [70303748, 70303857], [70304600, 70304710], [70320350, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352503]]	[[70219297, 70219343], [70249059, 70249150], [70272807, 70272875], [70272974, 70273233], [70273980, 70274072], [70280599, 70280750], [70284750, 70284946], [70287543, 70287620], [70289150, 70289261], [70290935, 70291026], [70297423, 70297624], [70303748, 70303857], [70304600, 70304710], [70320350, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352311]]
ENST00000547771	[[70219095, 70219343], [70249059, 70249150], [70272807, 70272875], [70272974, 70273233], [70273980, 70274072], [70280599, 70280750], [70284750, 70284946], [70287543, 70287620], [70289150, 70289261], [70290935, 70291026], [70297423, 70297624], [70303748, 70303857], [70304600, 70304710], [70320350, 70320514], [70321464, 70321528], [70326292, 70326378], [70329925, 70329967], [70330062, 70330115], [70330232, 70330412], [70345895, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352877]]	[[70219297, 70219343], [70249059, 70249150], [70272807, 70272875], [70272974, 70273233], [70273980, 70274072], [70280599, 70280750], [70284750, 70284946], [70287543, 70287620], [70289150, 70289261], [70290935, 70291026], [70297423, 70297624], [70303748, 70303857], [70304600, 70304710], [70320350, 70320514], [70321464, 70321528], [70326292, 70326378], [70329925, 70329967], [70330062, 70330115], [70330232, 70330412], [70345895, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352311]]
ENST00000548892	[[70320354, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352503]]	[[70320354, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352311]]
ENST00000299350	[[70320436, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352503]]	[[70326367, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352311]]
ENST00000535034	[[70326315, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70351601, 70351722], [70352028, 70352103], [70352224, 70352387]]	[[70326367, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70351601, 70351722], [70352028, 70352103], [70352224, 70352311]]
NM_182530	[[70219102, 70219343], [70249059, 70249150], [70272807, 70272875], [70272974, 70273233], [70273980, 70274072], [70280599, 70280750], [70284750, 70284946], [70287543, 70287620], [70289150, 70289261], [70290935, 70291026], [70297423, 70297624], [70303748, 70303857], [70304600, 70304710], [70320350, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352506]]	[[70219297, 70219343], [70249059, 70249150], [70272807, 70272875], [70272974, 70273233], [70273980, 70274072], [70280599, 70280750], [70284750, 70284946], [70287543, 70287620], [70289150, 70289261], [70290935, 70291026], [70297423, 70297624], [70303748, 70303857], [70304600, 70304710], [70320350, 70320514], [70321464, 70321528], [70326292, 70326378], [70329892, 70329967], [70330062, 70330115], [70330232, 70330412], [70345892, 70345955], [70346578, 70346666], [70349142, 70349217], [70351601, 70351722], [70352028, 70352103], [70352224, 70352311]]

Promoter

Chrom	Start	End	Description
chr12	70219001	70219023	CAGE_peak_1_at_C12orf28_5end
chr12	70219030	70219041	CAGE_peak_2_at_C12orf28_5end
chr12	70219052	70219056	CAGE_peak_4_at_C12orf28_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I069824	69824777	69827384	0.31	[{'connected_gene': 'MYRFL', 'score': 550.77}, {'connected_gene': 'RAB3IP', 'score': 11.76}, {'connected_gene': 'LOC101928002', 'score': 9.64}, {'connected_gene': 'ENSG00000258052', 'score': 0.34}, {'connected_gene': 'ENSG00000257241', 'score': 0.13}]
chr12	GH12I069833	69833304	69839036	0.52	[{'connected_gene': 'MYRFL', 'score': 27.03}, {'connected_gene': 'RAB3IP', 'score': 11.48}, {'connected_gene': 'ENSG00000258052', 'score': 0.29}, {'connected_gene': 'ENSG00000257241', 'score': 0.14}]
chr12	GH12I069981	69981672	69983129	0.31	[{'connected_gene': 'MYRFL', 'score': 8.3}, {'connected_gene': 'ENSG00000257241', 'score': 0.28}, {'connected_gene': 'LOC100125409', 'score': 0.12}, {'connected_gene': 'ENSG00000257815', 'score': 0.07}]
chr12	GH12I069985	69985641	69986470	0.46	[{'connected_gene': 'MYRFL', 'score': 5.76}, {'connected_gene': 'ENSG00000257241', 'score': 0.28}, {'connected_gene': 'LOC100125409', 'score': 0.13}, {'connected_gene': 'ENSG00000257815', 'score': 0.07}]
chr12	GH12I069935	69935561	69937030	0.83	[{'connected_gene': 'MYRFL', 'score': 12.06}, {'connected_gene': 'ENSG00000257241', 'score': 0.39}, {'connected_gene': 'ENSG00000257815', 'score': 0.06}]
chr12	GH12I069927	69927001	69927200	0.2	[{'connected_gene': 'MYRFL', 'score': 4.64}, {'connected_gene': 'ENSG00000257241', 'score': 0.37}, {'connected_gene': 'ENSG00000257815', 'score': 0.06}]
chr12	GH12I069879	69879001	69879650	0.87	[{'connected_gene': 'MYRFL', 'score': 0.23}, {'connected_gene': 'ENSG00000257241', 'score': 0.2}]
chr12	GH12I069894	69894679	69899125	0.6	[{'connected_gene': 'RAB3IP', 'score': 7.38}, {'connected_gene': 'MYRFL', 'score': 5.79}, {'connected_gene': 'CNOT2', 'score': 4.88}, {'connected_gene': 'ENSG00000257241', 'score': 0.23}]
chr12	GH12I069918	69918995	69920932	0.31	[{'connected_gene': 'RAB3IP', 'score': 6.79}, {'connected_gene': 'MYRFL', 'score': 6.37}, {'connected_gene': 'ENSG00000257241', 'score': 0.31}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069916	69916481	69917593	0.2	[{'connected_gene': 'RAB3IP', 'score': 4.78}, {'connected_gene': 'ENSG00000257241', 'score': 0.29}, {'connected_gene': 'MYRFL', 'score': 0.16}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069885	69885601	69886000	0.38	[{'connected_gene': 'RAB3IP', 'score': 6.17}, {'connected_gene': 'MYRFL', 'score': 0.21}, {'connected_gene': 'ENSG00000257241', 'score': 0.21}]
chr12	GH12I069890	69890516	69891536	0.43	[{'connected_gene': 'RAB3IP', 'score': 7.3}, {'connected_gene': 'ENSG00000257241', 'score': 0.22}, {'connected_gene': 'MYRFL', 'score': 0.2}]
chr12	GH12I069906	69906541	69906690	0.57	[{'connected_gene': 'RAB3IP', 'score': 6.86}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069873	69873160	69873844	0.54	[{'connected_gene': 'RAB3IP', 'score': 8.83}, {'connected_gene': 'MYRFL', 'score': 0.25}, {'connected_gene': 'ENSG00000257241', 'score': 0.19}]
chr12	GH12I069903	69903703	69905684	0.31	[{'connected_gene': 'RAB3IP', 'score': 7.39}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069900	69900261	69902065	0.98	[{'connected_gene': 'CPSF6', 'score': 10.27}, {'connected_gene': 'FRS2', 'score': 9.95}, {'connected_gene': 'RAB3IP', 'score': 6.71}, {'connected_gene': 'MYRFL', 'score': 5.78}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}]
chr12	GH12I069994	69994062	69995358	0.77	[{'connected_gene': 'CCT2', 'score': 13.44}, {'connected_gene': 'MYRFL', 'score': 7.16}, {'connected_gene': 'ENSG00000257815', 'score': 6.65}, {'connected_gene': 'RAB3IP', 'score': 1.48}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12	GH12I069986	69986999	69989746	1.2	[{'connected_gene': 'CCT2', 'score': 21.34}, {'connected_gene': 'MYRFL', 'score': 8.32}, {'connected_gene': 'ENSG00000257815', 'score': 7.4}, {'connected_gene': 'RAB3IP', 'score': 2.1}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12	GH12I069909	69909191	69909368	0.2	[{'connected_gene': 'LOC101928002', 'score': 4.41}, {'connected_gene': 'ENSG00000257241', 'score': 0.28}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.06}]
chr12	GH12I069738	69738201	69740706	1.98	[{'connected_gene': 'LOC101928002', 'score': 566.5}, {'connected_gene': 'RAB3IP', 'score': 563.05}, {'connected_gene': 'MYRFL', 'score': 22.49}, {'connected_gene': 'CPSF6', 'score': 11.46}, {'connected_gene': 'ENSG00000257815', 'score': 11.45}, {'connected_gene': 'ENSG00000258052', 'score': 0.21}]
chr12	GH12I069840	69840167	69842033	0.46	[{'connected_gene': 'LOC101928002', 'score': 19.11}, {'connected_gene': 'RAB3IP', 'score': 10.97}, {'connected_gene': 'MYRFL', 'score': 10.48}, {'connected_gene': 'ENSG00000258052', 'score': 0.28}, {'connected_gene': 'ENSG00000257241', 'score': 0.14}]
chr12	GH12I069990	69990767	69992624	0.52	[{'connected_gene': 'ENSG00000257815', 'score': 7.32}, {'connected_gene': 'MYRFL', 'score': 6.36}, {'connected_gene': 'RAB3IP', 'score': 5.31}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12	GH12I070002	70002259	70003949	0.58	[{'connected_gene': 'ENSG00000257815', 'score': 6.43}, {'connected_gene': 'MYRFL', 'score': 5.01}, {'connected_gene': 'ENSG00000257241', 'score': 0.22}, {'connected_gene': 'LOC100125409', 'score': 0.14}]
chr12	GH12I069948	69948941	69949090	0.2	[{'connected_gene': 'ENSG00000257241', 'score': 550.77}, {'connected_gene': 'MYRFL', 'score': 12.05}, {'connected_gene': 'LOC100125409', 'score': 0.1}, {'connected_gene': 'ENSG00000257815', 'score': 0.06}]
chr12	GH12I069931	69931176	69934573	0.57	[{'connected_gene': 'ENSG00000257815', 'score': 7.03}, {'connected_gene': 'MYRFL', 'score': 5.48}, {'connected_gene': 'ENSG00000257241', 'score': 0.39}]
chr12	GH12I069908	69908400	69908601	0.31	[{'connected_gene': 'ENSG00000257241', 'score': 0.28}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.06}]
chr12	GH12I069907	69906091	69906261	0.31	[{'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069821	69821601	69822442	0.82	[{'connected_gene': 'PIR46822', 'score': 550.77}, {'connected_gene': 'LOC101928002', 'score': 18.65}, {'connected_gene': 'RAB3IP', 'score': 12.97}, {'connected_gene': 'MYRFL', 'score': 0.77}, {'connected_gene': 'ENSG00000258052', 'score': 0.34}]