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
ENST00000380898	[[27798849, 27802788], [27818807, 27818875], [27835182, 27835236], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074830]]	[[27802690, 27802788], [27818807, 27818875], [27835182, 27835236], [27840109, 27840277], [27856270, 27856382], [27895806, 27895891]]
ENST00000447459	[[27798855, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074830]]	[[27802690, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074745]]
ENST00000395724	[[27802211, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27974476, 27974524], [28074396, 28074822]]	[[27802690, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27974476, 27974524], [28074396, 28074745]]
ENST00000562611	[[27835196, 27835236], [27840109, 27840277], [27856270, 27856382], [27861799, 27861944], [27895806, 27895959], [27974476, 27974524], [28074396, 28074509]]	[[27856312, 27856382], [27861799, 27861944], [27895806, 27895959], [27974476, 27974524], [28074396, 28074509]]
ENST00000380897	[[27802214, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27899380, 27899478]]	[[27802690, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895891]]
ENST00000569166	[[27802690, 27802788], [27818807, 27818875], [27835182, 27835236], [27840109, 27840277], [27856270, 27856382], [27895806, 27895891]]	[[27802690, 27802788], [27818807, 27818875], [27835182, 27835236], [27840109, 27840277], [27856270, 27856382], [27895806, 27895891]]
NM_001323900	[[27798849, 27802788], [27818807, 27818875], [27835182, 27835236], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074830]]	[[27802690, 27802788], [27818807, 27818875], [27835182, 27835236], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074745]]
NM_001109763	[[27798849, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074830]]	[[27802690, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27974476, 27974524], [28074396, 28074745]]
NM_001323901	[[27798849, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27974476, 27974524], [28074396, 28074830]]	[[27802690, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27974476, 27974524], [28074396, 28074745]]
NM_144675	[[27798849, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895959], [27899380, 27899478]]	[[27802690, 27802788], [27818807, 27818875], [27840109, 27840277], [27856270, 27856382], [27895806, 27895891]]

Promoter

Chrom	Start	End	Description
chr16	28075001	28075016	CAGE_peak_2_at_GSG1L_5end
chr16	28075025	28075060	CAGE_peak_1_at_GSG1L_5end
chr16	28075097	28075108	CAGE_peak_7_at_GSG1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I028070	28070840	28070989	0.59	[{'connected_gene': 'SBK1', 'score': 9.23}, {'connected_gene': 'ENSG00000246465', 'score': 9.22}, {'connected_gene': 'GSG1L', 'score': 0.44}, {'connected_gene': 'GC16P028082', 'score': 0.39}]
chr16	GH16I027312	27312980	27332565	2.78	[{'connected_gene': 'IL4R', 'score': 572.71}, {'connected_gene': 'FLJ21408', 'score': 16.93}, {'connected_gene': 'NSMCE1', 'score': 12.49}, {'connected_gene': 'GTF3C1', 'score': 9.91}, {'connected_gene': 'IL21R', 'score': 7.1}, {'connected_gene': 'KIAA0556', 'score': 6.79}, {'connected_gene': 'GSG1L', 'score': 5.01}, {'connected_gene': 'ENSG00000259940', 'score': 4.64}, {'connected_gene': 'KDM8', 'score': 1.99}, {'connected_gene': 'ENSG00000274092', 'score': 0.44}, {'connected_gene': 'PIR58561', 'score': 0.37}]
chr16	GH16I027625	27624471	27626887	0.97	[{'connected_gene': 'IL21R-AS1', 'score': 24.31}, {'connected_gene': 'GSG1L', 'score': 10.65}, {'connected_gene': 'ENSG00000261736', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16	GH16I027577	27577979	27580087	1.11	[{'connected_gene': 'IL21R-AS1', 'score': 31.86}, {'connected_gene': 'GSG1L', 'score': 10.29}, {'connected_gene': 'KIAA0556', 'score': 0.31}, {'connected_gene': 'ENSG00000261736', 'score': 0.21}]
chr16	GH16I027709	27709418	27713647	0.2	[{'connected_gene': 'IL21R-AS1', 'score': 23.31}, {'connected_gene': 'GSG1L', 'score': 10.58}, {'connected_gene': 'LOC100128079', 'score': 0.44}, {'connected_gene': 'PIR62239', 'score': 0.44}, {'connected_gene': 'ENSG00000273553', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16	GH16I027713	27713791	27715608	0.2	[{'connected_gene': 'IL21R-AS1', 'score': 21.55}, {'connected_gene': 'GSG1L', 'score': 10.58}, {'connected_gene': 'LOC100128079', 'score': 0.77}, {'connected_gene': 'PIR62239', 'score': 0.77}, {'connected_gene': 'ENSG00000273553', 'score': 0.31}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16	GH16I027675	27675204	27676322	0.2	[{'connected_gene': 'IL21R-AS1', 'score': 23.74}, {'connected_gene': 'GSG1L', 'score': 10.56}, {'connected_gene': 'GC16M027636', 'score': 0.39}, {'connected_gene': 'ENSG00000261736', 'score': 0.29}, {'connected_gene': 'LOC100128079', 'score': 0.26}, {'connected_gene': 'KIAA0556', 'score': 0.13}]
chr16	GH16I028148	28148674	28150658	1.02	[{'connected_gene': 'XPO6', 'score': 36.74}, {'connected_gene': 'APOBR', 'score': 14.91}, {'connected_gene': 'ENSG00000200652', 'score': 12.27}, {'connected_gene': 'RNY1P10', 'score': 12.25}, {'connected_gene': 'GSG1L', 'score': 10.34}, {'connected_gene': 'SBK1', 'score': 10.23}, {'connected_gene': 'ENSG00000246465', 'score': 10.19}, {'connected_gene': 'SULT1A1', 'score': 3.81}, {'connected_gene': 'GC16P028181', 'score': 0.31}, {'connected_gene': 'TPRKBP2', 'score': 0.28}]
chr16	GH16I027624	27624320	27624469	0.2	[{'connected_gene': 'GSG1L', 'score': 10.65}, {'connected_gene': 'ENSG00000261736', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.19}]
chr16	GH16I027627	27627149	27627211	0.2	[{'connected_gene': 'GSG1L', 'score': 10.65}, {'connected_gene': 'ENSG00000261736', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16	GH16I028090	28090836	28092163	0.52	[{'connected_gene': 'GSG1L', 'score': 12.09}, {'connected_gene': 'XPO6', 'score': 8.68}, {'connected_gene': 'GC16P028082', 'score': 0.44}, {'connected_gene': 'TPRKBP2', 'score': 0.34}]
chr16	GH16I028010	28010903	28012669	0.64	[{'connected_gene': 'GSG1L', 'score': 11.63}, {'connected_gene': 'GC16M027998', 'score': 0.39}, {'connected_gene': 'RNU6-1241P', 'score': 0.39}, {'connected_gene': 'GC16M028037', 'score': 0.29}]
chr16	GH16I027898	27898060	27898209	0.62	[{'connected_gene': 'GSG1L', 'score': 10.52}, {'connected_gene': 'RNU6-159P', 'score': 0.29}, {'connected_gene': 'GC16M027998', 'score': 0.15}, {'connected_gene': 'RNU6-1241P', 'score': 0.15}]
chr16	GH16I027888	27888157	27888216	0.87	[{'connected_gene': 'GSG1L', 'score': 550.1}, {'connected_gene': 'RNU6-159P', 'score': 0.34}, {'connected_gene': 'GC16M027998', 'score': 0.14}, {'connected_gene': 'RNU6-1241P', 'score': 0.14}]
chr16	GH16I028092	28092469	28094246	0.81	[{'connected_gene': 'GSG1L', 'score': 12.09}, {'connected_gene': 'ENSG00000200652', 'score': 10.94}, {'connected_gene': 'RNY1P10', 'score': 10.94}, {'connected_gene': 'XPO6', 'score': 8.36}, {'connected_gene': 'APOBR', 'score': 2.29}, {'connected_gene': 'SBK1', 'score': 2.27}, {'connected_gene': 'GC16P028082', 'score': 0.39}, {'connected_gene': 'TPRKBP2', 'score': 0.37}]
chr16	GH16I027676	27676460	27678139	0.58	[{'connected_gene': 'GSG1L', 'score': 10.56}, {'connected_gene': 'GC16M027636', 'score': 0.44}, {'connected_gene': 'ENSG00000261736', 'score': 0.29}, {'connected_gene': 'LOC100128079', 'score': 0.26}, {'connected_gene': 'KIAA0556', 'score': 0.13}]
chr16	GH16I027797	27797641	27802632	0.56	[{'connected_gene': 'GSG1L', 'score': 16.84}, {'connected_gene': 'GC16M027762', 'score': 0.34}, {'connected_gene': 'GC16P027839', 'score': 0.28}]
chr16	GH16I028063	28063488	28063547	0.73	[{'connected_gene': 'GSG1L', 'score': 550.77}, {'connected_gene': 'GC16P028082', 'score': 0.37}]
chr16	GH16I027893	27893020	27893109	0.43	[{'connected_gene': 'RNU6-159P', 'score': 0.31}, {'connected_gene': 'GC16M027998', 'score': 0.14}, {'connected_gene': 'RNU6-1241P', 'score': 0.14}, {'connected_gene': 'GSG1L', 'score': 0.09}]
chr16	GH16I027867	27867600	27868001	1.04	[{'connected_gene': 'RPS15AP33', 'score': 20.52}, {'connected_gene': 'ENSG00000260796', 'score': 10.42}, {'connected_gene': 'RNU6-159P', 'score': 0.77}, {'connected_gene': 'GC16M027998', 'score': 0.12}, {'connected_gene': 'RNU6-1241P', 'score': 0.12}, {'connected_gene': 'GSG1L', 'score': 0.08}]
chr16	GH16I028324	28324175	28325329	0.82	[{'connected_gene': 'ENSG00000246465', 'score': 12.16}, {'connected_gene': 'SBK1', 'score': 12.07}, {'connected_gene': 'GSG1L', 'score': 9.66}, {'connected_gene': 'EIF3C', 'score': 4.4}, {'connected_gene': 'GC16P028321', 'score': 0.77}, {'connected_gene': 'GC16P028319', 'score': 0.44}, {'connected_gene': 'ENSG00000277191', 'score': 0.37}]
chr16	GH16I028327	28327000	28327169	0.74	[{'connected_gene': 'ENSG00000246465', 'score': 12.14}, {'connected_gene': 'SBK1', 'score': 12.07}, {'connected_gene': 'GSG1L', 'score': 9.66}, {'connected_gene': 'GC16P028319', 'score': 0.44}, {'connected_gene': 'GC16P028321', 'score': 0.44}, {'connected_gene': 'ENSG00000277191', 'score': 0.39}]
chr16	GH16I028321	28321860	28322009	0.62	[{'connected_gene': 'GC16P028321', 'score': 550.77}, {'connected_gene': 'ENSG00000246465', 'score': 12.18}, {'connected_gene': 'SBK1', 'score': 12.07}, {'connected_gene': 'GSG1L', 'score': 9.67}, {'connected_gene': 'GC16P028319', 'score': 0.77}, {'connected_gene': 'ENSG00000277191', 'score': 0.37}]
chr16	GH16I027840	27840038	27840055	0.24	[{'connected_gene': 'GC16P027839', 'score': 550.77}, {'connected_gene': 'ENSG00000251417', 'score': 4.99}, {'connected_gene': 'SBK1', 'score': 4.25}, {'connected_gene': 'GC16P027863', 'score': 0.34}, {'connected_gene': 'GSG1L', 'score': 0.07}]
chr16	GH16I027796	27796100	27796249	1.03	[{'connected_gene': 'GC16M027762', 'score': 0.37}, {'connected_gene': 'GC16P027839', 'score': 0.26}, {'connected_gene': 'GSG1L', 'score': 0.06}]
chr16	GH16I027823	27823020	27823169	0.38	[{'connected_gene': 'GC16P027839', 'score': 0.37}, {'connected_gene': 'GC16M027762', 'score': 0.25}, {'connected_gene': 'GSG1L', 'score': 0.07}]
chr16	GH16I027972	27972580	27972749	0.59	[{'connected_gene': 'GC16M027998', 'score': 0.31}, {'connected_gene': 'RNU6-1241P', 'score': 0.31}, {'connected_gene': 'GSG1L', 'score': 0.16}, {'connected_gene': 'RNU6-159P', 'score': 0.14}]
chr16	GH16I028129	28129870	28131758	0.63	[{'connected_gene': 'ENSG00000200652', 'score': 11.31}, {'connected_gene': 'RNY1P10', 'score': 11.29}, {'connected_gene': 'GSG1L', 'score': 10.76}, {'connected_gene': 'SBK1', 'score': 10.25}, {'connected_gene': 'ENSG00000246465', 'score': 10.22}, {'connected_gene': 'XPO6', 'score': 8.64}, {'connected_gene': 'TPRKBP2', 'score': 0.37}, {'connected_gene': 'GC16P028181', 'score': 0.25}]