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
ENST00000436444	[[47735327, 47735373], [48003782, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019064, 48019178]]	[[48004952, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019064, 48019116]]
ENST00000258774	[[48002884, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019064, 48019140]]	[[48004952, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019064, 48019116]]
ENST00000458191	[[48003916, 48004229], [48004896, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019006, 48019150]]	[[48004952, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018402]]
ENST00000432325	[[48004762, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019006, 48019150]]	[[48004952, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018402]]
ENST00000442024	[[48008415, 48008915], [48010856, 48011113], [48015209, 48015284], [48016326, 48016434], [48018013, 48018131]]	[[48011098, 48011113], [48015209, 48015284], [48016326, 48016434], [48018013, 48018131]]
ENST00000432627	[[48008841, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018441], [48019064, 48019101]]	[[48008841, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018402]]
ENST00000433977	[[48015209, 48015284], [48015811, 48016018], [48016326, 48016434], [48018013, 48018190], [48018285, 48018492]]	[[48015937, 48016018], [48016326, 48016434], [48018013, 48018190], [48018285, 48018402]]
ENST00000446009	[[48015251, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019017, 48019150]]	[[48015251, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018402]]
ENST00000468868	[[48017856, 48018190], [48018285, 48018413], [48019064, 48019150]]	None
NR_037917	[[48002884, 48004229], [48004896, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019006, 48019222]]	None
NM_004507	[[48002884, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019064, 48019222]]	[[48004952, 48005035], [48007402, 48007522], [48008815, 48008915], [48015209, 48015284], [48016326, 48016434], [48018013, 48018190], [48018285, 48018413], [48019064, 48019116]]

Promoter

Chrom	Start	End	Description
chr7	48019117	48019187	CAGE_peak_1_at_HUS1_5end
chr7	48019203	48019228	CAGE_peak_2_at_HUS1_5end
chr7	48019238	48019253	CAGE_peak_3_at_HUS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I047761	47761652	47765627	1.38	[{'connected_gene': 'LINC00525', 'score': 14.2}, {'connected_gene': 'C7orf69', 'score': 11.23}, {'connected_gene': 'C7orf65', 'score': 10.28}, {'connected_gene': 'TNS3', 'score': 5.18}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7	GH07I047782	47782223	47788873	1.62	[{'connected_gene': 'LINC00525', 'score': 11.65}, {'connected_gene': 'C7orf65', 'score': 10.49}, {'connected_gene': 'TNS3', 'score': 2.21}, {'connected_gene': 'C7orf69', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7	GH07I047719	47719266	47721797	0.54	[{'connected_gene': 'LINC00525', 'score': 11.75}, {'connected_gene': 'C7orf65', 'score': 11.05}, {'connected_gene': 'HUS1', 'score': 0.07}]
chr7	GH07I047744	47744001	47744400	0.46	[{'connected_gene': 'LINC00525', 'score': 0.37}, {'connected_gene': 'C7orf65', 'score': 0.17}, {'connected_gene': 'HUS1', 'score': 0.07}]
chr7	GH07I047732	47732726	47733697	0.63	[{'connected_gene': 'C7orf69', 'score': 11.44}, {'connected_gene': 'LINC00525', 'score': 0.31}, {'connected_gene': 'C7orf65', 'score': 0.18}, {'connected_gene': 'HUS1', 'score': 0.07}]
chr7	GH07I047715	47715566	47715829	0.8	[{'connected_gene': 'C7orf69', 'score': 10.77}, {'connected_gene': 'LINC00525', 'score': 0.25}, {'connected_gene': 'C7orf65', 'score': 0.21}, {'connected_gene': 'HUS1', 'score': 0.07}]
chr7	GH07I047792	47792603	47792752	0.69	[{'connected_gene': 'C7orf69', 'score': 0.77}, {'connected_gene': 'LINC00525', 'score': 0.29}, {'connected_gene': 'PKD1L1', 'score': 0.09}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7	GH07I047791	47791495	47792591	0.52	[{'connected_gene': 'C7orf69', 'score': 0.77}, {'connected_gene': 'LINC00525', 'score': 0.29}, {'connected_gene': 'PKD1L1', 'score': 0.09}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7	GH07I047819	47819423	47819592	0.72	[{'connected_gene': 'C7orf69', 'score': 12.11}, {'connected_gene': 'C7orf65', 'score': 10.53}, {'connected_gene': 'GC07M047823', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.11}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7	GH07I047820	47819200	47819401	0.71	[{'connected_gene': 'C7orf69', 'score': 12.11}, {'connected_gene': 'C7orf65', 'score': 10.53}, {'connected_gene': 'GC07M047823', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.11}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7	GH07I047806	47806279	47806354	0.2	[{'connected_gene': 'C7orf69', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.34}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7	GH07I047794	47794575	47797231	0.78	[{'connected_gene': 'C7orf69', 'score': 550.77}, {'connected_gene': 'GC07M047823', 'score': 0.29}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7	GH07I047807	47806515	47807800	0.63	[{'connected_gene': 'C7orf69', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.34}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7	GH07I048081	48081689	48100413	2.78	[{'connected_gene': 'UPP1', 'score': 593.36}, {'connected_gene': 'HUS1', 'score': 15.03}, {'connected_gene': 'PKD1L1', 'score': 10.69}, {'connected_gene': 'SUN3', 'score': 10.37}, {'connected_gene': 'ABCA13', 'score': 9.78}, {'connected_gene': 'ENSG00000225507', 'score': 5.0}, {'connected_gene': 'LOC105375271', 'score': 0.34}]
chr7	GH07I048011	48011601	48012200	0.4	[{'connected_gene': 'UPP1', 'score': 19.09}, {'connected_gene': 'HUS1', 'score': 11.34}, {'connected_gene': 'PKD1L1', 'score': 10.81}, {'connected_gene': 'SUN3', 'score': 0.37}, {'connected_gene': 'LOC105375270', 'score': 0.31}]
chr7	GH07I048388	48388900	48391600	0.91	[{'connected_gene': 'UPP1', 'score': 6.57}, {'connected_gene': 'HUS1', 'score': 2.44}, {'connected_gene': 'GC07M048395', 'score': 0.44}, {'connected_gene': 'GC07M048357', 'score': 0.44}, {'connected_gene': 'ABCA13', 'score': 0.08}]
chr7	GH07I048038	48038473	48039943	0.38	[{'connected_gene': 'UPP1', 'score': 14.54}, {'connected_gene': 'HUS1', 'score': 6.5}, {'connected_gene': 'C7orf57', 'score': 0.77}]
chr7	GH07I048052	48052365	48054143	0.82	[{'connected_gene': 'UPP1', 'score': 21.77}, {'connected_gene': 'SUN3', 'score': 11.03}, {'connected_gene': 'ABCA13', 'score': 10.08}, {'connected_gene': 'HUS1', 'score': 6.05}, {'connected_gene': 'C7orf57', 'score': 0.37}]
chr7	GH07I047991	47991158	47993372	1.36	[{'connected_gene': 'UPP1', 'score': 17.88}, {'connected_gene': 'PKD1L1', 'score': 10.99}, {'connected_gene': 'HUS1', 'score': 6.51}, {'connected_gene': 'ABCA13', 'score': 5.14}, {'connected_gene': 'LOC105375270', 'score': 0.44}, {'connected_gene': 'SUN3', 'score': 0.28}]
chr7	GH07I047947	47947200	47947400	0.51	[{'connected_gene': 'UPP1', 'score': 11.79}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7	GH07I047949	47949727	47951931	1.09	[{'connected_gene': 'UPP1', 'score': 13.41}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.39}, {'connected_gene': 'HUS1', 'score': 0.31}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7	GH07I048109	48109133	48110781	1.25	[{'connected_gene': 'UPP1', 'score': 22.53}, {'connected_gene': 'C7orf57', 'score': 11.92}, {'connected_gene': 'PKD1L1', 'score': 11.69}, {'connected_gene': 'HUS1', 'score': 11.49}, {'connected_gene': 'ABCA13', 'score': 10.8}, {'connected_gene': 'LOC105375271', 'score': 0.77}]
chr7	GH07I047756	47756589	47760176	1.15	[{'connected_gene': 'TNS3', 'score': 15.54}, {'connected_gene': 'LINC00525', 'score': 13.69}, {'connected_gene': 'C7orf69', 'score': 11.04}, {'connected_gene': 'C7orf65', 'score': 10.59}, {'connected_gene': 'HUS1', 'score': 0.07}]
chr7	GH07I047771	47771081	47772773	0.58	[{'connected_gene': 'TNS3', 'score': 15.54}, {'connected_gene': 'LINC00525', 'score': 13.24}, {'connected_gene': 'C7orf69', 'score': 12.35}, {'connected_gene': 'PKD1L1', 'score': 9.45}, {'connected_gene': 'ABCA13', 'score': 9.29}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7	GH07I047668	47668719	47673375	1.58	[{'connected_gene': 'TNS3', 'score': 11.2}, {'connected_gene': 'UPP1', 'score': 7.68}, {'connected_gene': 'HUS1', 'score': 2.56}, {'connected_gene': 'C7orf65', 'score': 0.37}, {'connected_gene': 'LINC00525', 'score': 0.16}]
chr7	GH07I047478	47478802	47490020	2.15	[{'connected_gene': 'TNS3', 'score': 561.77}, {'connected_gene': 'C7orf65', 'score': 10.96}, {'connected_gene': 'C7orf69', 'score': 10.57}, {'connected_gene': 'PKD1L1', 'score': 9.01}, {'connected_gene': 'HUS1', 'score': 2.24}, {'connected_gene': 'GC07P047460', 'score': 0.34}]
chr7	GH07I047493	47493710	47504869	1.66	[{'connected_gene': 'TNS3', 'score': 11.71}, {'connected_gene': 'C7orf65', 'score': 10.94}, {'connected_gene': 'C7orf69', 'score': 10.24}, {'connected_gene': 'ABCA13', 'score': 4.85}, {'connected_gene': 'HUS1', 'score': 2.03}, {'connected_gene': 'GC07P047460', 'score': 0.28}]
chr7	GH07I047523	47523251	47524217	0.31	[{'connected_gene': 'TNS3', 'score': 5.08}, {'connected_gene': 'HUS1', 'score': 4.47}, {'connected_gene': 'GC07P047460', 'score': 0.21}]
chr7	GH07I047505	47505984	47510030	1.3	[{'connected_gene': 'TNS3', 'score': 4.78}, {'connected_gene': 'HUS1', 'score': 1.57}, {'connected_gene': 'GC07P047460', 'score': 0.25}]
chr7	GH07I047724	47724097	47725784	0.85	[{'connected_gene': 'C7orf65', 'score': 11.05}, {'connected_gene': 'LINC00525', 'score': 0.28}, {'connected_gene': 'HUS1', 'score': 0.07}]
chr7	GH07I047777	47777600	47779329	0.89	[{'connected_gene': 'C7orf65', 'score': 10.5}, {'connected_gene': 'TNS3', 'score': 9.95}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'LINC00525', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.09}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7	GH07I047968	47968560	47971860	0.79	[{'connected_gene': 'HUS1', 'score': 13.72}, {'connected_gene': 'UPP1', 'score': 12.99}, {'connected_gene': 'PKD1L1', 'score': 0.44}]
chr7	GH07I047978	47978281	47980233	2.11	[{'connected_gene': 'HUS1', 'score': 563.83}, {'connected_gene': 'UPP1', 'score': 13.27}, {'connected_gene': 'PKD1L1', 'score': 0.39}]
chr7	GH07I047953	47953816	47955322	0.52	[{'connected_gene': 'HUS1', 'score': 23.99}, {'connected_gene': 'UPP1', 'score': 13.32}, {'connected_gene': 'ABCA13', 'score': 8.94}, {'connected_gene': 'ENSG00000225507', 'score': 0.77}, {'connected_gene': 'PKD1L1', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7	GH07I047902	47902104	47902253	0.2	[{'connected_gene': 'HUS1', 'score': 10.86}, {'connected_gene': 'ENSG00000225507', 'score': 0.23}, {'connected_gene': 'PKD1L1', 'score': 0.21}, {'connected_gene': 'GC07M047823', 'score': 0.19}]
chr7	GH07I047940	47938244	47938393	0.65	[{'connected_gene': 'HUS1', 'score': 12.97}, {'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.31}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7	GH07I047937	47937404	47937553	0.79	[{'connected_gene': 'PKD1L1', 'score': 13.71}, {'connected_gene': 'UPP1', 'score': 4.76}, {'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.26}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7	GH07I047814	47814884	47815672	0.2	[{'connected_gene': 'PKD1L1', 'score': 10.05}, {'connected_gene': 'C7orf65', 'score': 9.78}, {'connected_gene': 'GC07M047823', 'score': 0.39}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7	GH07I047774	47774376	47776861	0.49	[{'connected_gene': 'PKD1L1', 'score': 13.75}, {'connected_gene': 'C7orf65', 'score': 10.3}, {'connected_gene': 'TNS3', 'score': 10.26}, {'connected_gene': 'ABCA13', 'score': 9.29}, {'connected_gene': 'LINC00525', 'score': 0.39}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7	GH07I047939	47939802	47943999	1.19	[{'connected_gene': 'PKD1L1', 'score': 13.97}, {'connected_gene': 'HUS1', 'score': 12.89}, {'connected_gene': 'C7orf57', 'score': 5.67}, {'connected_gene': 'UPP1', 'score': 5.39}, {'connected_gene': 'ENSG00000225507', 'score': 4.79}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7	GH07I047893	47893304	47893413	0.38	[{'connected_gene': 'PKD1L1', 'score': 10.86}, {'connected_gene': 'ENSG00000225507', 'score': 0.21}, {'connected_gene': 'GC07M047823', 'score': 0.21}, {'connected_gene': 'HUS1', 'score': 0.17}]
chr7	GH07I047948	47948401	47948800	0.9	[{'connected_gene': 'PKD1L1', 'score': 550.37}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7	GH07I047896	47896904	47897073	0.31	[{'connected_gene': 'PKD1L1', 'score': 10.72}, {'connected_gene': 'ENSG00000225507', 'score': 0.22}, {'connected_gene': 'GC07M047823', 'score': 0.2}, {'connected_gene': 'HUS1', 'score': 0.18}]
chr7	GH07I048255	48255111	48255375	0.79	[{'connected_gene': 'ABCA13', 'score': 10.65}, {'connected_gene': 'UPP1', 'score': 3.97}, {'connected_gene': 'HUS1', 'score': 1.69}, {'connected_gene': 'GC07M048357', 'score': 0.13}]
chr7	GH07I047813	47813601	47814200	0.31	[{'connected_gene': 'GC07M047823', 'score': 0.39}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7	GH07I047845	47845863	47847091	0.67	[{'connected_gene': 'GC07M047823', 'score': 0.37}, {'connected_gene': 'ENSG00000225507', 'score': 0.14}, {'connected_gene': 'PKD1L1', 'score': 0.13}, {'connected_gene': 'HUS1', 'score': 0.12}]
chr7	GH07I047946	47946401	47946600	0.76	[{'connected_gene': 'ENSG00000225507', 'score': 0.39}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7	GH07I047945	47945201	47945600	0.97	[{'connected_gene': 'ENSG00000225507', 'score': 0.39}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7	GH07I047938	47938884	47938950	0.43	[{'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.31}, {'connected_gene': 'HUS1', 'score': 0.26}, {'connected_gene': 'GC07M047823', 'score': 0.14}]