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
ENST00000251170	[[5008317, 5008446], [5009273, 5009387], [5037557, 5037707], [5038149, 5038281], [5040767, 5040896], [5041838, 5042031], [5046348, 5046461], [5046855, 5047045], [5050655, 5050744], [5050855, 5050926], [5053402, 5053574], [5055914, 5056049], [5057352, 5057487], [5058421, 5058649], [5061095, 5061274], [5064859, 5069159]]	[[5009324, 5009387], [5037557, 5037707], [5038149, 5038281], [5040767, 5040896], [5041838, 5042031], [5046348, 5046461], [5046855, 5047045], [5050655, 5050744], [5050855, 5050926], [5053402, 5053574], [5055914, 5056049], [5057352, 5057487], [5058421, 5058649], [5061095, 5061274], [5064859, 5064971]]
ENST00000587469	[[5009255, 5009387], [5037557, 5037707], [5038149, 5038281], [5040767, 5040896], [5041838, 5041871]]	[[5009324, 5009387], [5037557, 5037707], [5038149, 5038281], [5040767, 5040896], [5041838, 5041871]]
NM_014692	[[5008317, 5008446], [5009273, 5009387], [5037557, 5037707], [5038149, 5038281], [5040767, 5040896], [5041838, 5042031], [5046348, 5046461], [5046855, 5047045], [5050655, 5050744], [5050855, 5050926], [5053402, 5053574], [5055914, 5056049], [5057352, 5057487], [5058421, 5058649], [5061095, 5061274], [5064859, 5069156]]	[[5009324, 5009387], [5037557, 5037707], [5038149, 5038281], [5040767, 5040896], [5041838, 5042031], [5046348, 5046461], [5046855, 5047045], [5050655, 5050744], [5050855, 5050926], [5053402, 5053574], [5055914, 5056049], [5057352, 5057487], [5058421, 5058649], [5061095, 5061274], [5064859, 5064971]]

Promoter

Chrom	Start	End	Description
chr16	5008290	5008355	CAGE_peak_1_at_SEC14L5_5end
chr16	5008367	5008380	CAGE_peak_2_at_SEC14L5_5end
chr16	5009250	5009265	CAGE_peak_3_at_SEC14L5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I004956	4956001	4956909	1.38	[{'connected_gene': 'SEC14L5', 'score': 555.49}, {'connected_gene': 'GC16M004952', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.77}]
chr16	GH16I005017	5017696	5018296	0.43	[{'connected_gene': 'SEC14L5', 'score': 13.74}, {'connected_gene': 'C16orf89', 'score': 11.53}, {'connected_gene': 'UBALD1', 'score': 6.14}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}]
chr16	GH16I004940	4940339	4941722	0.38	[{'connected_gene': 'SEC14L5', 'score': 5.56}, {'connected_gene': 'SEPT12', 'score': 5.15}, {'connected_gene': 'GC16M004952', 'score': 0.39}, {'connected_gene': 'PPL', 'score': 0.37}, {'connected_gene': 'GC16P004899', 'score': 0.26}]
chr16	GH16I004961	4961270	4964801	0.54	[{'connected_gene': 'SEC14L5', 'score': 7.53}, {'connected_gene': 'SEPT12', 'score': 4.93}, {'connected_gene': 'GC16M004962', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.77}]
chr16	GH16I004957	4957263	4958729	2.17	[{'connected_gene': 'SEC14L5', 'score': 557.29}, {'connected_gene': 'SEPT12', 'score': 5.13}, {'connected_gene': 'PPL', 'score': 0.77}, {'connected_gene': 'GC16M004952', 'score': 0.44}]
chr16	GH16I004978	4978968	4980075	0.52	[{'connected_gene': 'SEC14L5', 'score': 7.55}, {'connected_gene': 'GC16P004970', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I004981	4981509	4982301	0.43	[{'connected_gene': 'SEC14L5', 'score': 8.71}, {'connected_gene': 'GC16P004970', 'score': 0.39}, {'connected_gene': 'NAGPA-AS1', 'score': 0.31}]
chr16	GH16I005000	5000287	5001480	0.31	[{'connected_gene': 'SEC14L5', 'score': 7.16}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}, {'connected_gene': 'GC16P004970', 'score': 0.29}]
chr16	GH16I005005	5005641	5007839	0.31	[{'connected_gene': 'SEC14L5', 'score': 14.32}, {'connected_gene': 'NAGPA-AS1', 'score': 0.77}, {'connected_gene': 'GC16P004970', 'score': 0.28}]
chr16	GH16I005001	5001854	5005515	0.64	[{'connected_gene': 'SEC14L5', 'score': 21.07}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16P004970', 'score': 0.29}]
chr16	GH16I004982	4982400	4982953	0.31	[{'connected_gene': 'SEC14L5', 'score': 8.69}, {'connected_gene': 'GC16P004970', 'score': 0.39}, {'connected_gene': 'NAGPA-AS1', 'score': 0.31}]
chr16	GH16I004990	4990231	4991150	0.2	[{'connected_gene': 'PPL', 'score': 11.36}, {'connected_gene': 'SEC14L5', 'score': 10.73}, {'connected_gene': 'GC16P004970', 'score': 0.34}, {'connected_gene': 'NAGPA-AS1', 'score': 0.34}]
chr16	GH16I004993	4993244	4998251	0.31	[{'connected_gene': 'PPL', 'score': 11.33}, {'connected_gene': 'SEC14L5', 'score': 10.39}, {'connected_gene': 'NAGPA-AS1', 'score': 0.37}, {'connected_gene': 'GC16P004970', 'score': 0.31}]
chr16	GH16I004986	4986753	4988768	0.6	[{'connected_gene': 'PPL', 'score': 11.36}, {'connected_gene': 'GC16P004970', 'score': 0.37}, {'connected_gene': 'NAGPA-AS1', 'score': 0.34}, {'connected_gene': 'SEC14L5', 'score': 0.31}]
chr16	GH16I005027	5026584	5029551	0.43	[{'connected_gene': 'NAGPA', 'score': 12.69}, {'connected_gene': 'C16orf89', 'score': 11.83}, {'connected_gene': 'GLYR1', 'score': 10.39}, {'connected_gene': 'UBN1', 'score': 10.39}, {'connected_gene': 'SEC14L5', 'score': 8.17}, {'connected_gene': 'GC16M005030', 'score': 0.77}, {'connected_gene': 'NAGPA-AS1', 'score': 0.37}]
chr16	GH16I004972	4972138	4974427	0.57	[{'connected_gene': 'ZNF500', 'score': 14.05}, {'connected_gene': 'SEC14L5', 'score': 9.98}, {'connected_gene': 'GC16P004970', 'score': 0.77}, {'connected_gene': 'NAGPA-AS1', 'score': 0.28}]
chr16	GH16I004976	4976160	4977443	0.92	[{'connected_gene': 'ZNF500', 'score': 14.05}, {'connected_gene': 'SEC14L5', 'score': 7.86}, {'connected_gene': 'GC16P004970', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I004765	4765346	4769579	2.39	[{'connected_gene': 'ZNF500', 'score': 561.9}, {'connected_gene': 'SEPT12', 'score': 13.35}, {'connected_gene': 'ROGDI', 'score': 12.24}, {'connected_gene': 'ANKS3', 'score': 12.19}, {'connected_gene': 'C16orf71', 'score': 12.19}, {'connected_gene': 'GLYR1', 'score': 10.69}, {'connected_gene': 'UBN1', 'score': 10.69}, {'connected_gene': 'SMIM22', 'score': 8.12}, {'connected_gene': 'SEC14L5', 'score': 1.92}, {'connected_gene': 'CDIP1', 'score': 1.28}, {'connected_gene': 'ENSG00000276096', 'score': 0.39}]
chr16	GH16I004942	4942176	4946569	1.74	[{'connected_gene': 'ZNF500', 'score': 24.92}, {'connected_gene': 'ANKS3', 'score': 21.62}, {'connected_gene': 'GLYR1', 'score': 9.91}, {'connected_gene': 'SEPT12', 'score': 6.21}, {'connected_gene': 'SEC14L5', 'score': 5.52}, {'connected_gene': 'MGRN1', 'score': 4.73}, {'connected_gene': 'PPL', 'score': 1.62}, {'connected_gene': 'GC16M004952', 'score': 0.44}, {'connected_gene': 'GC16P004899', 'score': 0.25}]
chr16	GH16I005022	5022389	5023165	0.2	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'SEC14L5', 'score': 5.01}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005021	5021287	5021822	0.2	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'SEC14L5', 'score': 7.13}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005025	5025440	5025589	0.76	[{'connected_gene': 'C16orf89', 'score': 11.82}, {'connected_gene': 'GLYR1', 'score': 10.4}, {'connected_gene': 'UBN1', 'score': 10.4}, {'connected_gene': 'SEC14L5', 'score': 8.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005018	5018940	5019089	0.4	[{'connected_gene': 'C16orf89', 'score': 11.43}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}, {'connected_gene': 'SEC14L5', 'score': 0.21}]
chr16	GH16I004110	4110675	4117321	2.15	[{'connected_gene': 'ADCY9', 'score': 562.58}, {'connected_gene': 'GC16P004115', 'score': 550.77}, {'connected_gene': 'PIR45258', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 9.56}, {'connected_gene': 'SEC14L5', 'score': 4.61}, {'connected_gene': 'GC16M004100', 'score': 0.39}]
chr16	GH16I004092	4092620	4095964	1.11	[{'connected_gene': 'ADCY9', 'score': 17.96}, {'connected_gene': 'CREBBP', 'score': 10.26}, {'connected_gene': 'NLRC3', 'score': 9.76}, {'connected_gene': 'SEC14L5', 'score': 4.78}, {'connected_gene': 'GC16P004091', 'score': 0.77}, {'connected_gene': 'GC16P004090', 'score': 0.77}, {'connected_gene': 'GC16M004100', 'score': 0.44}]
chr16	GH16I004894	4894876	4895060	0.57	[{'connected_gene': 'LOC105371064', 'score': 550.77}, {'connected_gene': 'GLYR1', 'score': 16.09}, {'connected_gene': 'PPL', 'score': 11.67}, {'connected_gene': 'UBN1', 'score': 11.67}, {'connected_gene': 'SEPT12', 'score': 3.33}, {'connected_gene': 'C16orf71', 'score': 3.05}, {'connected_gene': 'HMOX2', 'score': 2.79}, {'connected_gene': 'SEC14L5', 'score': 2.74}, {'connected_gene': 'ROGDI', 'score': 1.99}, {'connected_gene': 'CDIP1', 'score': 1.89}, {'connected_gene': 'PIR34804', 'score': 0.44}]
chr16	GH16I004225	4225321	4226572	0.57	[{'connected_gene': 'ZNF263', 'score': 16.15}, {'connected_gene': 'ZNF500', 'score': 15.12}, {'connected_gene': 'CREBBP', 'score': 13.67}, {'connected_gene': 'ENSG00000261938', 'score': 11.11}, {'connected_gene': 'GLYR1', 'score': 10.44}, {'connected_gene': 'ZNF597', 'score': 10.43}, {'connected_gene': 'SEC14L5', 'score': 10.36}, {'connected_gene': 'ZNF174', 'score': 10.14}, {'connected_gene': 'ZNF75A', 'score': 10.12}, {'connected_gene': 'GC16P004232', 'score': 0.44}, {'connected_gene': 'GC16P004207', 'score': 0.37}, {'connected_gene': 'SRL', 'score': 0.37}]
chr16	GH16I005010	5010431	5012741	0.52	[{'connected_gene': 'NAGPA-AS1', 'score': 550.77}, {'connected_gene': 'SEC14L5', 'score': 11.46}, {'connected_gene': 'NAGPA', 'score': 5.82}, {'connected_gene': 'GC16M005030', 'score': 0.37}]
chr16	GH16I005016	5016537	5017545	0.31	[{'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}, {'connected_gene': 'SEC14L5', 'score': 0.22}]
chr16	GH16I005015	5015088	5016387	0.54	[{'connected_gene': 'NAGPA-AS1', 'score': 0.77}, {'connected_gene': 'GC16M005030', 'score': 0.39}, {'connected_gene': 'SEC14L5', 'score': 0.22}]
chr16	GH16I004971	4971388	4972087	0.2	[{'connected_gene': 'GC16P004970', 'score': 550.77}, {'connected_gene': 'SEC14L5', 'score': 7.48}, {'connected_gene': 'NAGPA-AS1', 'score': 0.28}]
chr16	GH16I004980	4980420	4980569	0.66	[{'connected_gene': 'GC16P004970', 'score': 0.39}, {'connected_gene': 'SEC14L5', 'score': 0.34}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I004968	4968529	4969487	0.51	[{'connected_gene': 'GC16P004970', 'score': 550.77}, {'connected_gene': 'SEC14L5', 'score': 5.83}, {'connected_gene': 'GC16M004962', 'score': 0.77}]
chr16	GH16I004969	4969620	4970818	0.51	[{'connected_gene': 'GC16P004970', 'score': 550.77}, {'connected_gene': 'SEC14L5', 'score': 9.05}, {'connected_gene': 'GC16M004962', 'score': 0.77}]
chr16	GH16I004966	4966242	4967929	0.2	[{'connected_gene': 'GC16M004962', 'score': 550.77}, {'connected_gene': 'SEC14L5', 'score': 9.61}, {'connected_gene': 'GC16P004970', 'score': 0.77}]