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
ENST00000490131	[[121902529, 121902659], [121972794, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000959, 122001083], [122002533, 122004212]]	[[121973036, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000959, 122001083], [122002533, 122004038]]
ENST00000498619	[[121903180, 121903376], [121972794, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000929, 122001083], [122002533, 122005342]]	[[121973036, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000929, 122001083], [122002533, 122004038]]
ENST00000296154	[[121973008, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000959, 122001083], [122002533, 122004134]]	[[121973036, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000959, 122001083], [122002533, 122004038]]
ENST00000490186	[[121973177, 121973221], [121975927, 121976485]]	None
NM_000388	[[121902529, 121902659], [121972794, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000959, 122001083], [122002533, 122005344]]	[[121973036, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000959, 122001083], [122002533, 122004038]]
NM_001178065	[[121903180, 121903376], [121972794, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000929, 122001083], [122002533, 122005344]]	[[121973036, 121973221], [121975927, 121976234], [121980374, 121981259], [121994658, 121994889], [122000929, 122001083], [122002533, 122004038]]

Promoter

Chrom	Start	End	Description
chr3	121902511	121902539	CAGE_peak_1_at_CASR_5end
chr3	121902560	121902569	CAGE_peak_3_at_CASR_5end
chr3	121903226	121903235	CAGE_peak_8_at_CASR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I122101	122101492	122102043	1.44	[{'connected_gene': 'CD86', 'score': 4.66}, {'connected_gene': 'DTX3L', 'score': 2.2}, {'connected_gene': 'PARP9', 'score': 1.98}, {'connected_gene': 'EAF2', 'score': 1.83}, {'connected_gene': 'HCLS1', 'score': 1.6}, {'connected_gene': 'ILDR1', 'score': 0.26}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3	GH03I122074	122073100	122073207	0.56	[{'connected_gene': 'CD86', 'score': 8.6}, {'connected_gene': 'DTX3L', 'score': 7.71}, {'connected_gene': 'PARP9', 'score': 7.39}, {'connected_gene': 'HCLS1', 'score': 1.73}, {'connected_gene': 'EAF2', 'score': 1.67}, {'connected_gene': 'ILDR1', 'score': 0.39}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122073	122073889	122080970	2.01	[{'connected_gene': 'CD86', 'score': 562.73}, {'connected_gene': 'ENSG00000202388', 'score': 12.36}, {'connected_gene': 'DTX3L', 'score': 10.76}, {'connected_gene': 'PARP9', 'score': 10.42}, {'connected_gene': 'CCDC58', 'score': 9.91}, {'connected_gene': 'FAM162A', 'score': 9.91}, {'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'EAF2', 'score': 1.77}, {'connected_gene': 'CSTA', 'score': 1.68}, {'connected_gene': 'HCLS1', 'score': 1.65}, {'connected_gene': 'ILDR1', 'score': 0.37}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122260	122260976	122261175	0.33	[{'connected_gene': 'CD86', 'score': 3.6}, {'connected_gene': 'HNRNPA1P23', 'score': 0.22}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3	GH03I122232	122232394	122234400	1.23	[{'connected_gene': 'CASR', 'score': 11.19}, {'connected_gene': 'IQCB1', 'score': 4.58}, {'connected_gene': 'CD86', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 2.92}, {'connected_gene': 'PARP9', 'score': 2.4}, {'connected_gene': 'DTX3L', 'score': 1.97}, {'connected_gene': 'KPNA1', 'score': 1.85}, {'connected_gene': 'GOLGB1', 'score': 1.81}, {'connected_gene': 'CSTA', 'score': 1.65}, {'connected_gene': 'HNRNPA1P23', 'score': 0.18}]
chr3	GH03I122065	122065768	122068616	1.32	[{'connected_gene': 'CASR', 'score': 10.49}, {'connected_gene': 'CD86', 'score': 3.27}, {'connected_gene': 'EAF2', 'score': 2.45}, {'connected_gene': 'HCLS1', 'score': 1.85}, {'connected_gene': 'PARP9', 'score': 1.67}, {'connected_gene': 'DTX3L', 'score': 1.5}, {'connected_gene': 'ILDR1', 'score': 0.44}]
chr3	GH03I122245	122245528	122248308	1.08	[{'connected_gene': 'CASR', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 6.64}, {'connected_gene': 'PARP9', 'score': 5.19}, {'connected_gene': 'IQCB1', 'score': 4.61}, {'connected_gene': 'HSPBAP1', 'score': 4.52}, {'connected_gene': 'CD86', 'score': 4.16}, {'connected_gene': 'DTX3L', 'score': 3.63}, {'connected_gene': 'KPNA1', 'score': 3.14}, {'connected_gene': 'CSTA', 'score': 2.94}, {'connected_gene': 'GOLGB1', 'score': 1.44}, {'connected_gene': 'EAF2', 'score': 1.11}, {'connected_gene': 'HNRNPA1P23', 'score': 0.19}]
chr3	GH03I122105	122105714	122105863	0.51	[{'connected_gene': 'CASR', 'score': 10.73}, {'connected_gene': 'POLQ', 'score': 10.33}, {'connected_gene': 'ILDR1', 'score': 0.25}, {'connected_gene': 'CD86', 'score': 0.23}]
chr3	GH03I122123	122123627	122125125	0.31	[{'connected_gene': 'CASR', 'score': 10.69}, {'connected_gene': 'ILDR1', 'score': 0.21}]
chr3	GH03I122184	122184335	122184394	0.68	[{'connected_gene': 'CASR', 'score': 550.77}, {'connected_gene': 'CSTA', 'score': 10.56}, {'connected_gene': 'IQCB1', 'score': 5.73}, {'connected_gene': 'HNRNPA1P23', 'score': 0.12}]
chr3	GH03I122258	122258800	122259001	0.82	[{'connected_gene': 'CASR', 'score': 10.22}, {'connected_gene': 'HNRNPA1P23', 'score': 0.22}]
chr3	GH03I122183	122183638	122183697	0.68	[{'connected_gene': 'CASR', 'score': 550.77}, {'connected_gene': 'HNRNPA1P23', 'score': 0.12}]
chr3	GH03I122099	122099167	122101418	1.1	[{'connected_gene': 'PARP9', 'score': 9.36}, {'connected_gene': 'DTX3L', 'score': 9.25}, {'connected_gene': 'CD86', 'score': 7.24}, {'connected_gene': 'HCLS1', 'score': 2.8}, {'connected_gene': 'CSTA', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.97}, {'connected_gene': 'ILDR1', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3	GH03I122093	122093593	122095577	0.69	[{'connected_gene': 'ILDR1', 'score': 12.08}, {'connected_gene': 'ENSG00000202388', 'score': 11.99}, {'connected_gene': 'CD86', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3	GH03I122091	122091234	122093092	1.05	[{'connected_gene': 'ILDR1', 'score': 12.08}, {'connected_gene': 'ENSG00000202388', 'score': 11.99}, {'connected_gene': 'CD86', 'score': 6.76}, {'connected_gene': 'CASR', 'score': 0.16}]
chr3	GH03I122088	122088601	122089000	0.4	[{'connected_gene': 'ILDR1', 'score': 0.31}, {'connected_gene': 'CD86', 'score': 0.29}, {'connected_gene': 'CASR', 'score': 0.16}]
chr3	GH03I122082	122081922	122083176	0.59	[{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'IQCB1', 'score': 6.35}, {'connected_gene': 'CD86', 'score': 0.31}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3	GH03I122081	122081622	122081833	0.98	[{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'CD86', 'score': 8.63}, {'connected_gene': 'EAF2', 'score': 2.54}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3	GH03I122111	122111043	122112274	0.46	[{'connected_gene': 'CSTA', 'score': 11.15}, {'connected_gene': 'CASR', 'score': 11.01}, {'connected_gene': 'POLQ', 'score': 10.32}, {'connected_gene': 'RPL7AP11', 'score': 3.82}, {'connected_gene': 'ILDR1', 'score': 0.23}, {'connected_gene': 'CD86', 'score': 0.22}]
chr3	GH03I122313	122313907	122315436	0.88	[{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3	GH03I122294	122294401	122295800	0.96	[{'connected_gene': 'CSTA', 'score': 13.0}, {'connected_gene': 'WDR5B', 'score': 9.62}, {'connected_gene': 'LOC102723582', 'score': 8.48}, {'connected_gene': 'PARP14', 'score': 4.34}, {'connected_gene': 'PARP9', 'score': 2.72}, {'connected_gene': 'CD86', 'score': 2.61}, {'connected_gene': 'DIRC2', 'score': 2.57}, {'connected_gene': 'DTX3L', 'score': 2.46}, {'connected_gene': 'HSPBAP1', 'score': 1.96}, {'connected_gene': 'HNRNPA1P23', 'score': 0.34}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122310	122310483	122311616	0.38	[{'connected_gene': 'CSTA', 'score': 11.75}, {'connected_gene': 'WDR5B', 'score': 6.38}, {'connected_gene': 'HNRNPA1P23', 'score': 0.44}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3	GH03I122271	122271401	122271600	0.67	[{'connected_gene': 'CSTA', 'score': 10.73}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'LOC102723582', 'score': 6.49}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3	GH03I122314	122313429	122313581	0.42	[{'connected_gene': 'CSTA', 'score': 13.04}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.73}, {'connected_gene': 'PARP14', 'score': 8.53}, {'connected_gene': 'PARP9', 'score': 3.36}, {'connected_gene': 'DTX3L', 'score': 3.23}, {'connected_gene': 'DIRC2', 'score': 1.27}, {'connected_gene': 'KPNA1', 'score': 1.19}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3	GH03I122268	122268783	122268872	0.68	[{'connected_gene': 'CSTA', 'score': 10.72}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'WDR5B', 'score': 4.7}, {'connected_gene': 'CD86', 'score': 4.23}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3	GH03I122362	122362745	122367331	1	[{'connected_gene': 'LOC102723582', 'score': 43.95}, {'connected_gene': 'GOLGB1', 'score': 42.66}, {'connected_gene': 'IQCB1', 'score': 39.29}, {'connected_gene': 'SEC22A', 'score': 37.89}, {'connected_gene': 'WDR5B', 'score': 12.84}, {'connected_gene': 'CSTA', 'score': 11.92}, {'connected_gene': 'RPL7AP11', 'score': 9.74}, {'connected_gene': 'CASR', 'score': 9.3}, {'connected_gene': 'CCDC58', 'score': 0.37}]
chr3	GH03I122296	122296001	122296400	0.2	[{'connected_gene': 'HNRNPA1P23', 'score': 0.34}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122063	122063514	122064859	1.04	[{'connected_gene': 'ENSG00000202388', 'score': 11.81}, {'connected_gene': 'CD86', 'score': 10.77}, {'connected_gene': 'IQCB1', 'score': 6.46}, {'connected_gene': 'DTX3L', 'score': 4.13}, {'connected_gene': 'PARP9', 'score': 4.06}, {'connected_gene': 'HCLS1', 'score': 2.28}, {'connected_gene': 'EAF2', 'score': 2.15}, {'connected_gene': 'CSTA', 'score': 1.7}, {'connected_gene': 'ILDR1', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]