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
ENST00000336767	[[34915480, 34916002], [34918468, 34918580], [34919944, 34919988], [34922321, 34922392], [34922643, 34922693], [34922799, 34922873], [34923105, 34923156], [34923237, 34923339], [34924951, 34925080], [34925330, 34926101]]	[[34915843, 34916002], [34918468, 34918580], [34919944, 34919988], [34922321, 34922392], [34922643, 34922693], [34922799, 34922873], [34923105, 34923156], [34923237, 34923339], [34924951, 34925080], [34925330, 34925600]]
ENST00000510960	[[34915781, 34916002], [34918468, 34918580], [34919944, 34919988], [34922321, 34922392], [34922643, 34922693], [34922799, 34923462]]	None
ENST00000515798	[[34915814, 34916002], [34918468, 34918580], [34919944, 34919988], [34922321, 34923339], [34924951, 34925785]]	None
ENST00000510834	[[34915820, 34916002], [34918468, 34918580], [34919944, 34922030]]	None
ENST00000506023	[[34915856, 34916002], [34922321, 34922392], [34922643, 34922693], [34922799, 34922873], [34923105, 34923156], [34923237, 34923339], [34924951, 34925080], [34925330, 34925450]]	None
NM_018321	[[34915819, 34916002], [34918468, 34918580], [34919944, 34919988], [34922321, 34922392], [34922643, 34922693], [34922799, 34922873], [34923105, 34923156], [34923237, 34923339], [34924951, 34925080], [34925330, 34925787]]	[[34915843, 34916002], [34918468, 34918580], [34919944, 34919988], [34922321, 34922392], [34922643, 34922693], [34922799, 34922873], [34923105, 34923156], [34923237, 34923339], [34924951, 34925080], [34925330, 34925600]]

Promoter

Chrom	Start	End	Description
chr5	34915414	34915420	CAGE_peak_4_at_BRIX1_5end
chr5	34915444	34915461	CAGE_peak_2_at_BRIX1_5end
chr5	34915771	34915791	CAGE_peak_3_at_BRIX1_5end
chr5	34915805	34915847	CAGE_peak_1_at_BRIX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I035616	35616899	35619051	2.04	[{'connected_gene': 'SPEF2', 'score': 564.81}, {'connected_gene': 'BRIX1', 'score': 53.88}, {'connected_gene': 'NADK2-AS1', 'score': 10.55}, {'connected_gene': 'RAI14', 'score': 10.05}, {'connected_gene': 'RNU7-130P', 'score': 0.37}, {'connected_gene': 'GC05P035369', 'score': 0.07}]
chr5	GH05I035185	35185065	35189163	0.72	[{'connected_gene': 'BRIX1', 'score': 13.52}, {'connected_gene': 'LOC643373', 'score': 12.86}, {'connected_gene': 'SKP2', 'score': 11.14}, {'connected_gene': 'RAI14', 'score': 10.52}, {'connected_gene': 'PRLR', 'score': 8.72}, {'connected_gene': 'PIR49347', 'score': 0.39}, {'connected_gene': 'ENSG00000250886', 'score': 0.14}]
chr5	GH05I034756	34756238	34758069	1.27	[{'connected_gene': 'BRIX1', 'score': 11.88}, {'connected_gene': 'LOC643373', 'score': 10.37}, {'connected_gene': 'ENSG00000250234', 'score': 10.36}, {'connected_gene': 'RAI14', 'score': 10.36}, {'connected_gene': 'GC05M034755', 'score': 0.44}, {'connected_gene': 'GC05M034738', 'score': 0.39}]
chr5	GH05I034708	34708424	34712126	1.17	[{'connected_gene': 'BRIX1', 'score': 11.7}, {'connected_gene': 'LOC643373', 'score': 11.05}, {'connected_gene': 'TTC23L', 'score': 5.26}, {'connected_gene': 'RAI14', 'score': 1.76}, {'connected_gene': 'GC05P034707', 'score': 0.77}, {'connected_gene': 'PIR47065', 'score': 0.34}]
chr5	GH05I034596	34596889	34600379	1.32	[{'connected_gene': 'BRIX1', 'score': 15.27}, {'connected_gene': 'LOC643373', 'score': 13.06}, {'connected_gene': 'TTC23L', 'score': 9.95}, {'connected_gene': 'LOC105374721', 'score': 0.39}, {'connected_gene': 'RAI14', 'score': 0.22}]
chr5	GH05I034913	34913676	34918084	2.1	[{'connected_gene': 'BRIX1', 'score': 550.77}, {'connected_gene': 'RAD1', 'score': 550.77}, {'connected_gene': 'DNAJC21', 'score': 18.7}, {'connected_gene': 'TTC23L', 'score': 9.85}, {'connected_gene': 'GC05P034888', 'score': 0.31}]
chr5	GH05I034914	34913296	34913425	0.2	[{'connected_gene': 'BRIX1', 'score': 0.77}, {'connected_gene': 'RAD1', 'score': 0.44}, {'connected_gene': 'PIR35041', 'score': 0.39}, {'connected_gene': 'GC05P034888', 'score': 0.31}]
chr5	GH05I034494	34494064	34494896	0.84	[{'connected_gene': 'BRIX1', 'score': 14.89}, {'connected_gene': 'RAI14', 'score': 10.54}, {'connected_gene': 'ENSG00000250234', 'score': 10.54}, {'connected_gene': 'LOC643373', 'score': 9.84}, {'connected_gene': 'GC05P034404', 'score': 0.17}, {'connected_gene': 'LOC105374721', 'score': 0.16}]
chr5	GH05I034576	34576824	34578054	0.84	[{'connected_gene': 'BRIX1', 'score': 11.3}, {'connected_gene': 'RAI14', 'score': 10.42}, {'connected_gene': 'ENSG00000250234', 'score': 10.42}, {'connected_gene': 'TTC23L', 'score': 9.74}, {'connected_gene': 'LOC105374721', 'score': 0.44}, {'connected_gene': 'GC05P034404', 'score': 0.09}]
chr5	GH05I034059	34059522	34063198	0.76	[{'connected_gene': 'BRIX1', 'score': 11.27}, {'connected_gene': 'AMACR', 'score': 6.88}, {'connected_gene': 'GC05P034055', 'score': 0.44}, {'connected_gene': 'ENSG00000278900', 'score': 0.26}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.21}]
chr5	GH05I035777	35777600	35778001	1.2	[{'connected_gene': 'BRIX1', 'score': 23.07}, {'connected_gene': 'LOC105374724', 'score': 11.08}, {'connected_gene': 'CAPSL', 'score': 10.86}, {'connected_gene': 'LOC100506406', 'score': 10.86}, {'connected_gene': 'SKP2', 'score': 10.09}, {'connected_gene': 'RAD1', 'score': 9.94}, {'connected_gene': 'RNU7-130P', 'score': 0.11}, {'connected_gene': 'SPEF2', 'score': 0.1}]
chr5	GH05I034682	34682267	34689457	1.91	[{'connected_gene': 'RAI14', 'score': 567.44}, {'connected_gene': 'BRIX1', 'score': 21.73}, {'connected_gene': 'LOC643373', 'score': 19.69}, {'connected_gene': 'ENSG00000250234', 'score': 11.9}, {'connected_gene': 'TTC23L', 'score': 10.26}, {'connected_gene': 'GC05P034707', 'score': 0.34}]
chr5	GH05I034654	34654665	34662434	2.66	[{'connected_gene': 'RAI14', 'score': 574.71}, {'connected_gene': 'ENSG00000250234', 'score': 550.77}, {'connected_gene': 'BRIX1', 'score': 15.87}, {'connected_gene': 'LOC643373', 'score': 13.34}, {'connected_gene': 'LOC105374723', 'score': 0.77}, {'connected_gene': 'GC05P034707', 'score': 0.25}]
chr5	GH05I034551	34551492	34552698	0.8	[{'connected_gene': 'RAI14', 'score': 21.36}, {'connected_gene': 'BRIX1', 'score': 15.85}, {'connected_gene': 'LOC643373', 'score': 13.36}, {'connected_gene': 'ENSG00000250234', 'score': 10.53}, {'connected_gene': 'LOC105374721', 'score': 0.29}, {'connected_gene': 'GC05P034404', 'score': 0.11}]
chr5	GH05I034006	34006415	34010897	2.54	[{'connected_gene': 'AMACR', 'score': 653.55}, {'connected_gene': 'ENSG00000249572', 'score': 12.53}, {'connected_gene': 'BRIX1', 'score': 11.8}, {'connected_gene': 'TTC23L', 'score': 10.75}, {'connected_gene': 'LOC643373', 'score': 10.41}, {'connected_gene': 'DNAJC21', 'score': 9.76}, {'connected_gene': 'C1QTNF3', 'score': 2.72}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]
chr5	GH05I034714	34714729	34719926	1.34	[{'connected_gene': 'TTC23L', 'score': 16.32}, {'connected_gene': 'BRIX1', 'score': 13.27}, {'connected_gene': 'RAI14', 'score': 12.37}, {'connected_gene': 'LOC643373', 'score': 11.76}, {'connected_gene': 'ENSG00000250234', 'score': 10.93}, {'connected_gene': 'GC05P034707', 'score': 0.44}, {'connected_gene': 'PIR47065', 'score': 0.37}]
chr5	GH05I034922	34922635	34925100	1.17	[{'connected_gene': 'DNAJC21', 'score': 18.74}, {'connected_gene': 'BRIX1', 'score': 15.28}, {'connected_gene': 'LOC643373', 'score': 9.8}, {'connected_gene': 'RAD1', 'score': 0.77}, {'connected_gene': 'GC05P034888', 'score': 0.28}]
chr5	GH05I034585	34585102	34589007	1.78	[{'connected_gene': 'LOC105374721', 'score': 550.77}, {'connected_gene': 'BRIX1', 'score': 14.9}, {'connected_gene': 'RAI14', 'score': 12.45}, {'connected_gene': 'ENSG00000250234', 'score': 11.03}, {'connected_gene': 'TTC23L', 'score': 10.32}, {'connected_gene': 'LOC643373', 'score': 9.83}]