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
ENST00000547314	[[101866319, 101866388], [101891136, 101891382], [101894790, 101895008]]	[[101891246, 101891382], [101894790, 101895008]]
ENST00000552573	[[101866351, 101866388], [101891136, 101891382], [101894778, 101895021]]	[[101891246, 101891382], [101894778, 101895021]]
ENST00000374994	[[101867370, 101867584], [101891136, 101891382], [101894790, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101916474]]	[[101867487, 101867584], [101891136, 101891382], [101894790, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]
ENST00000374990	[[101867392, 101867584], [101891136, 101891382], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101915931]]	[[101867487, 101867584], [101891136, 101891382], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]
ENST00000549766	[[101867431, 101867584], [101891136, 101891382], [101894778, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101909935, 101910066], [101911461, 101911810]]	[[101867487, 101867584], [101891136, 101891382], [101894778, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101909935, 101909945]]
ENST00000552516	[[101867431, 101867584], [101891136, 101891382], [101894778, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101915940]]	[[101867487, 101867584], [101891136, 101891382], [101894778, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]
ENST00000549021	[[101890056, 101890284], [101891136, 101891382], [101900140, 101900346]]	[[101891246, 101891382], [101900140, 101900346]]
ENST00000548365	[[101890155, 101890284], [101891136, 101891382], [101894778, 101894985]]	[[101891246, 101891382], [101894778, 101894985]]
ENST00000550253	[[101890197, 101890284], [101891136, 101891382], [101894790, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911623]]	[[101891246, 101891382], [101894790, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]
ENST00000546584	[[101890215, 101890284], [101891117, 101891382], [101894790, 101895021]]	[[101890215, 101890284], [101891117, 101891382], [101894790, 101895021]]
NM_001130916	[[101867370, 101867584], [101891136, 101891382], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101916474]]	[[101867487, 101867584], [101891136, 101891382], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]
NM_004612	[[101867370, 101867584], [101891136, 101891382], [101894790, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101916474]]	[[101867487, 101867584], [101891136, 101891382], [101894790, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]
NM_001306210	[[101867370, 101867584], [101891136, 101891382], [101894778, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101916474]]	[[101867487, 101867584], [101891136, 101891382], [101894778, 101895021], [101900140, 101900371], [101904817, 101904985], [101907013, 101907170], [101908766, 101908891], [101909935, 101910066], [101911461, 101911587]]

Promoter

Chrom	Start	End	Description
chr9	101867359	101867376	CAGE_peak_3_at_TGFBR1_5end
chr9	101867387	101867474	CAGE_peak_1_at_TGFBR1_5end
chr9	101913325	101913377	CAGE_peak_5_at_TGFBR1_5end
chr9	101913490	101913516	CAGE_peak_6_at_TGFBR1_5end
chr9	101913582	101913637	CAGE_peak_4_at_TGFBR1_5end
chr9	101913689	101913697	CAGE_peak_2_at_TGFBR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I099590	99590346	99591608	1.12	[{'connected_gene': 'NR4A3', 'score': 8.34}, {'connected_gene': 'TGFBR1', 'score': 1.21}, {'connected_gene': 'ENSG00000234860', 'score': 0.22}, {'connected_gene': 'GC09M099818', 'score': 0.07}, {'connected_gene': 'LOC101928438', 'score': 0.07}]
chr9	GH09I099515	99515220	99515368	0.49	[{'connected_gene': 'NR4A3', 'score': 6.74}, {'connected_gene': 'TGFBR1', 'score': 1.3}, {'connected_gene': 'ENSG00000234860', 'score': 0.37}, {'connected_gene': 'NAMA', 'score': 0.12}]
chr9	GH09I099432	99432944	99434783	1.38	[{'connected_gene': 'NR4A3', 'score': 5.49}, {'connected_gene': 'TGFBR1', 'score': 1.23}, {'connected_gene': 'NAMA', 'score': 0.22}, {'connected_gene': 'ENSG00000234860', 'score': 0.15}]
chr9	GH09I099516	99516776	99516928	0.79	[{'connected_gene': 'NR4A3', 'score': 5.64}, {'connected_gene': 'TGFBR1', 'score': 1.43}, {'connected_gene': 'ENSG00000234860', 'score': 0.39}, {'connected_gene': 'NAMA', 'score': 0.12}]
chr9	GH09I099102	99102913	99108094	2.18	[{'connected_gene': 'TGFBR1', 'score': 559.61}, {'connected_gene': 'INVS', 'score': 10.07}, {'connected_gene': 'GALNT12', 'score': 4.66}, {'connected_gene': 'GC09M099146', 'score': 0.26}, {'connected_gene': 'RNA5SP290', 'score': 0.26}]
chr9	GH09I099044	99044907	99048567	0.43	[{'connected_gene': 'TGFBR1', 'score': 0.22}, {'connected_gene': 'ENSG00000270412', 'score': 0.15}, {'connected_gene': 'COL15A1', 'score': 0.15}]
chr9	GH09I099068	99068599	99070320	0.43	[{'connected_gene': 'TGFBR1', 'score': 0.29}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}, {'connected_gene': 'COL15A1', 'score': 0.13}]
chr9	GH09I099054	99054271	99054354	0.4	[{'connected_gene': 'TGFBR1', 'score': 0.25}, {'connected_gene': 'ENSG00000270412', 'score': 0.14}, {'connected_gene': 'COL15A1', 'score': 0.14}]
chr9	GH09I099057	99054699	99054848	0.4	[{'connected_gene': 'TGFBR1', 'score': 0.25}, {'connected_gene': 'ENSG00000270412', 'score': 0.14}, {'connected_gene': 'COL15A1', 'score': 0.14}]
chr9	GH09I099065	99065654	99067734	0.38	[{'connected_gene': 'TGFBR1', 'score': 0.28}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}, {'connected_gene': 'COL15A1', 'score': 0.13}]
chr9	GH09I099039	99039544	99042016	1.18	[{'connected_gene': 'TGFBR1', 'score': 0.21}, {'connected_gene': 'ENSG00000270412', 'score': 0.15}, {'connected_gene': 'COL15A1', 'score': 0.15}]
chr9	GH09I099055	99055459	99055608	0.72	[{'connected_gene': 'TGFBR1', 'score': 0.25}, {'connected_gene': 'ENSG00000270412', 'score': 0.14}, {'connected_gene': 'COL15A1', 'score': 0.14}]
chr9	GH09I099052	99052166	99054231	0.69	[{'connected_gene': 'TGFBR1', 'score': 0.23}, {'connected_gene': 'ENSG00000270412', 'score': 0.14}, {'connected_gene': 'COL15A1', 'score': 0.14}]
chr9	GH09I099049	99049008	99051264	0.82	[{'connected_gene': 'TGFBR1', 'score': 5.45}, {'connected_gene': 'ENSG00000270412', 'score': 0.14}, {'connected_gene': 'COL15A1', 'score': 0.14}]
chr9	GH09I099058	99055230	99055346	0.63	[{'connected_gene': 'TGFBR1', 'score': 0.25}, {'connected_gene': 'ENSG00000270412', 'score': 0.14}, {'connected_gene': 'COL15A1', 'score': 0.14}]
chr9	GH09I099028	99028952	99031591	1.05	[{'connected_gene': 'TGFBR1', 'score': 5.11}, {'connected_gene': 'ENSG00000270412', 'score': 0.17}, {'connected_gene': 'COL15A1', 'score': 0.17}]
chr9	GH09I099111	99111401	99113661	1.02	[{'connected_gene': 'TGFBR1', 'score': 8.79}, {'connected_gene': 'GC09M099146', 'score': 0.29}, {'connected_gene': 'RNA5SP290', 'score': 0.29}]
chr9	GH09I099108	99108886	99110244	1.04	[{'connected_gene': 'TGFBR1', 'score': 6.72}, {'connected_gene': 'GC09M099146', 'score': 0.28}, {'connected_gene': 'RNA5SP290', 'score': 0.28}]
chr9	GH09I099114	99114959	99115108	0.4	[{'connected_gene': 'TGFBR1', 'score': 0.39}, {'connected_gene': 'GC09M099146', 'score': 0.29}, {'connected_gene': 'RNA5SP290', 'score': 0.29}]
chr9	GH09I099115	99114200	99114600	0.51	[{'connected_gene': 'TGFBR1', 'score': 0.39}, {'connected_gene': 'GC09M099146', 'score': 0.29}, {'connected_gene': 'RNA5SP290', 'score': 0.29}]
chr9	GH09I099071	99071201	99071600	0.58	[{'connected_gene': 'TGFBR1', 'score': 0.29}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}]
chr9	GH09I099085	99085801	99086893	0.83	[{'connected_gene': 'TGFBR1', 'score': 0.37}, {'connected_gene': 'ENSG00000270412', 'score': 0.11}]
chr9	GH09I099092	99092212	99093200	0.6	[{'connected_gene': 'TGFBR1', 'score': 0.39}, {'connected_gene': 'ENSG00000270412', 'score': 0.11}]
chr9	GH09I099074	99074773	99078183	1.35	[{'connected_gene': 'TGFBR1', 'score': 12.7}, {'connected_gene': 'ENSG00000270412', 'score': 0.12}]
chr9	GH09I099075	99074329	99074378	0.95	[{'connected_gene': 'TGFBR1', 'score': 0.31}, {'connected_gene': 'ENSG00000270412', 'score': 0.12}]
chr9	GH09I099090	99090999	99091048	0.2	[{'connected_gene': 'TGFBR1', 'score': 0.39}, {'connected_gene': 'ENSG00000270412', 'score': 0.11}]
chr9	GH09I098246	98246325	98257283	2.85	[{'connected_gene': 'TBC1D2', 'score': 593.93}, {'connected_gene': 'CORO2A', 'score': 10.2}, {'connected_gene': 'TGFBR1', 'score': 9.98}, {'connected_gene': 'NANS', 'score': 5.49}, {'connected_gene': 'TRMO', 'score': 3.94}, {'connected_gene': 'LOC100131625', 'score': 0.37}]
chr9	GH09I099056	99056674	99060907	1.64	[{'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'TGFBR1', 'score': 1.75}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}, {'connected_gene': 'COL15A1', 'score': 0.13}]
chr9	GH09I099072	99071690	99073526	0.94	[{'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'TGFBR1', 'score': 0.29}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}]
chr9	GH09I098987	98987951	98990875	1.06	[{'connected_gene': 'COL15A1', 'score': 16.59}, {'connected_gene': 'GALNT12', 'score': 10.21}, {'connected_gene': 'ENSG00000270412', 'score': 4.37}, {'connected_gene': 'TGFBR1', 'score': 0.14}]
chr9	GH09I098963	98963806	98965835	0.4	[{'connected_gene': 'COL15A1', 'score': 23.28}, {'connected_gene': 'ENSG00000270412', 'score': 0.34}, {'connected_gene': 'TGFBR1', 'score': 0.12}]
chr9	GH09I098942	98942786	98945022	2	[{'connected_gene': 'COL15A1', 'score': 576.24}, {'connected_gene': 'ENSG00000270412', 'score': 550.77}, {'connected_gene': 'TGFBR1', 'score': 0.1}]
chr9	GH09I098994	98994146	98995824	0.31	[{'connected_gene': 'COL15A1', 'score': 11.13}, {'connected_gene': 'ENSG00000270412', 'score': 0.23}, {'connected_gene': 'TGFBR1', 'score': 0.14}]
chr9	GH09I098957	98957145	98963188	0.92	[{'connected_gene': 'COL15A1', 'score': 28.84}, {'connected_gene': 'ENSG00000270412', 'score': 5.42}, {'connected_gene': 'TGFBR1', 'score': 0.11}]
chr9	GH09I098993	98993759	98993908	0.85	[{'connected_gene': 'COL15A1', 'score': 11.13}, {'connected_gene': 'ENSG00000270412', 'score': 0.23}, {'connected_gene': 'TGFBR1', 'score': 0.14}]
chr9	GH09I099001	99001699	99002650	0.69	[{'connected_gene': 'COL15A1', 'score': 15.31}, {'connected_gene': 'ENSG00000270412', 'score': 0.22}, {'connected_gene': 'TGFBR1', 'score': 0.15}]
chr9	GH09I098982	98982919	98984363	0.76	[{'connected_gene': 'COL15A1', 'score': 5.34}, {'connected_gene': 'ENSG00000270412', 'score': 0.28}, {'connected_gene': 'TGFBR1', 'score': 0.13}]
chr9	GH09I099018	99018233	99024276	1.09	[{'connected_gene': 'COL15A1', 'score': 9.99}, {'connected_gene': 'TGFBR1', 'score': 4.79}, {'connected_gene': 'ENSG00000270412', 'score': 0.18}]
chr9	GH09I099010	99010077	99011250	0.83	[{'connected_gene': 'COL15A1', 'score': 15.31}, {'connected_gene': 'ENSG00000270412', 'score': 0.2}, {'connected_gene': 'TGFBR1', 'score': 0.16}]
chr9	GH09I098951	98951393	98955965	0.2	[{'connected_gene': 'COL15A1', 'score': 27.31}, {'connected_gene': 'ENSG00000270412', 'score': 0.44}, {'connected_gene': 'TGFBR1', 'score': 0.1}]
chr9	GH09I099037	99037439	99039259	0.58	[{'connected_gene': 'COL15A1', 'score': 4.57}, {'connected_gene': 'TGFBR1', 'score': 0.2}, {'connected_gene': 'ENSG00000270412', 'score': 0.16}]
chr9	GH09I098979	98979798	98981568	0.38	[{'connected_gene': 'COL15A1', 'score': 5.36}, {'connected_gene': 'ENSG00000270412', 'score': 0.28}, {'connected_gene': 'TGFBR1', 'score': 0.13}]
chr9	GH09I099012	99012977	99014668	0.85	[{'connected_gene': 'COL15A1', 'score': 5.34}, {'connected_gene': 'ENSG00000270412', 'score': 0.19}, {'connected_gene': 'TGFBR1', 'score': 0.16}]
chr9	GH09I098966	98966940	98968616	0.46	[{'connected_gene': 'COL15A1', 'score': 21.92}, {'connected_gene': 'ENSG00000270412', 'score': 0.34}, {'connected_gene': 'TGFBR1', 'score': 0.12}]
chr9	GH09I098970	98970438	98978667	1.3	[{'connected_gene': 'COL15A1', 'score': 17.8}, {'connected_gene': 'STX17', 'score': 15.18}, {'connected_gene': 'ENSG00000270412', 'score': 0.29}, {'connected_gene': 'TGFBR1', 'score': 0.13}]
chr9	GH09I099167	99167879	99167968	0.38	[{'connected_gene': 'SEC61B', 'score': 11.25}, {'connected_gene': 'ALG2', 'score': 11.25}, {'connected_gene': 'TGFBR1', 'score': 4.98}, {'connected_gene': 'LOC105376174', 'score': 0.37}, {'connected_gene': 'GC09M099146', 'score': 0.34}, {'connected_gene': 'RNA5SP290', 'score': 0.34}]
chr9	GH09I099175	99175895	99177470	0.43	[{'connected_gene': 'SEC61B', 'score': 10.7}, {'connected_gene': 'ALG2', 'score': 10.7}, {'connected_gene': 'KRT8P11', 'score': 6.01}, {'connected_gene': 'TGFBR1', 'score': 4.75}, {'connected_gene': 'LOC105376174', 'score': 0.44}, {'connected_gene': 'GC09M099146', 'score': 0.29}, {'connected_gene': 'RNA5SP290', 'score': 0.29}]
chr9	GH09I099118	99118601	99120914	1.14	[{'connected_gene': 'LOC105376174', 'score': 5.75}, {'connected_gene': 'TGFBR1', 'score': 5.16}, {'connected_gene': 'GC09M099146', 'score': 0.31}, {'connected_gene': 'RNA5SP290', 'score': 0.31}]
chr9	GH09I099007	99007199	99007348	0.68	[{'connected_gene': 'ENSG00000270412', 'score': 0.21}, {'connected_gene': 'COL15A1', 'score': 0.21}, {'connected_gene': 'TGFBR1', 'score': 0.15}]
chr9	GH09I099003	99003726	99005060	0.2	[{'connected_gene': 'ENSG00000270412', 'score': 0.21}, {'connected_gene': 'COL15A1', 'score': 0.21}, {'connected_gene': 'TGFBR1', 'score': 0.15}]
chr9	GH09I098945	98945401	98945600	0.51	[{'connected_gene': 'ENSG00000270412', 'score': 550.77}, {'connected_gene': 'COL15A1', 'score': 24.02}, {'connected_gene': 'TGFBR1', 'score': 0.1}]
chr9	GH09I098997	98997557	98999399	1.19	[{'connected_gene': 'ENSG00000270412', 'score': 4.8}, {'connected_gene': 'COL15A1', 'score': 0.22}, {'connected_gene': 'TGFBR1', 'score': 0.14}]
chr9	GH09I099008	99008319	99008468	0.43	[{'connected_gene': 'ENSG00000270412', 'score': 0.21}, {'connected_gene': 'COL15A1', 'score': 0.2}, {'connected_gene': 'TGFBR1', 'score': 0.15}]
chr9	GH09I099000	99000559	99000748	0.94	[{'connected_gene': 'ENSG00000270412', 'score': 0.22}, {'connected_gene': 'COL15A1', 'score': 0.22}, {'connected_gene': 'TGFBR1', 'score': 0.15}]
chr9	GH09I099134	99134431	99136475	0.51	[{'connected_gene': 'GC09M099146', 'score': 0.39}, {'connected_gene': 'RNA5SP290', 'score': 0.39}, {'connected_gene': 'TGFBR1', 'score': 0.29}]
chr9	GH09I099136	99136801	99137722	1.06	[{'connected_gene': 'GC09M099146', 'score': 0.44}, {'connected_gene': 'RNA5SP290', 'score': 0.44}, {'connected_gene': 'TGFBR1', 'score': 0.29}]
chr9	GH09I099125	99125463	99130634	1.18	[{'connected_gene': 'GC09M099146', 'score': 0.37}, {'connected_gene': 'RNA5SP290', 'score': 0.37}, {'connected_gene': 'TGFBR1', 'score': 0.34}]
chr9	GH09I099140	99140593	99141178	0.65	[{'connected_gene': 'GC09M099146', 'score': 0.44}, {'connected_gene': 'RNA5SP290', 'score': 0.44}, {'connected_gene': 'TGFBR1', 'score': 0.28}]
chr9	GH09I099150	99150079	99151177	0.4	[{'connected_gene': 'GC09M099146', 'score': 0.77}, {'connected_gene': 'RNA5SP290', 'score': 0.77}, {'connected_gene': 'LOC105376174', 'score': 0.29}, {'connected_gene': 'TGFBR1', 'score': 0.25}]