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
ENST00000324364	[[27848505, 27850784], [27851816, 27851879]]	[[27849829, 27850666]]
ENST00000394775	[[27849795, 27850784], [27851262, 27851745]]	[[27849829, 27850784], [27851262, 27851630]]
ENST00000522876	[[27850726, 27850784], [27851256, 27851758]]	[[27850726, 27850784], [27851256, 27851630]]
NM_001142683	[[27848505, 27850784], [27851262, 27851745]]	[[27849829, 27850784], [27851262, 27851630]]
NM_024584	[[27848505, 27850784], [27851816, 27851898]]	[[27849829, 27850666]]

Promoter

Chrom	Start	End	Description
chr2	27851822	27851833	CAGE_peak_3_at_CCDC121_5end
chr2	27851843	27851885	CAGE_peak_1_at_CCDC121_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I027662	27662437	27664854	2.14	[{'connected_gene': 'SUPT7L', 'score': 626.29}, {'connected_gene': 'SLC4A1AP', 'score': 562.73}, {'connected_gene': 'IFT172', 'score': 86.94}, {'connected_gene': 'GTF3C2', 'score': 83.29}, {'connected_gene': 'CAD', 'score': 69.97}, {'connected_gene': 'ZNF512', 'score': 64.61}, {'connected_gene': 'GPN1', 'score': 57.67}, {'connected_gene': 'NRBP1', 'score': 51.44}, {'connected_gene': 'EIF2B4', 'score': 50.65}, {'connected_gene': 'SNX17', 'score': 43.13}, {'connected_gene': 'LOC105374363', 'score': 41.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 33.54}, {'connected_gene': 'ENSG00000272148', 'score': 33.32}, {'connected_gene': 'TMEM214', 'score': 31.87}, {'connected_gene': 'CCDC121', 'score': 21.4}, {'connected_gene': 'ZNF513', 'score': 20.79}, {'connected_gene': 'ATRAID', 'score': 20.76}, {'connected_gene': 'AGBL5-IT1', 'score': 20.67}, {'connected_gene': 'PPM1G', 'score': 20.5}, {'connected_gene': 'OST4', 'score': 12.66}, {'connected_gene': 'ENSG00000206731', 'score': 11.53}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'FOSL2', 'score': 10.65}, {'connected_gene': 'MPV17', 'score': 10.34}, {'connected_gene': 'FLJ31356', 'score': 10.22}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027636	27636637	27639813	0.69	[{'connected_gene': 'SNX17', 'score': 16.94}, {'connected_gene': 'SLC4A1AP', 'score': 11.64}, {'connected_gene': 'KRTCAP3', 'score': 6.8}, {'connected_gene': 'CGREF1', 'score': 4.78}, {'connected_gene': 'OST4', 'score': 4.37}, {'connected_gene': 'ENSG00000206731', 'score': 0.77}, {'connected_gene': 'GC02M027644', 'score': 0.77}, {'connected_gene': 'CCDC121', 'score': 0.44}, {'connected_gene': 'GPN1', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027595	27595583	27595642	0.73	[{'connected_gene': 'ZNF512', 'score': 550.39}, {'connected_gene': 'CCDC121', 'score': 10.62}, {'connected_gene': 'GPN1', 'score': 10.62}, {'connected_gene': 'GCKR', 'score': 10.2}, {'connected_gene': 'FNDC4', 'score': 10.19}, {'connected_gene': 'IFT172', 'score': 9.87}, {'connected_gene': 'ENSG00000259080', 'score': 0.39}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027655	27655314	27655463	0.38	[{'connected_gene': 'CCDC121', 'score': 10.79}, {'connected_gene': 'GPN1', 'score': 10.79}, {'connected_gene': 'ZNF512', 'score': 10.18}, {'connected_gene': 'IFT172', 'score': 9.95}, {'connected_gene': 'KRTCAP3', 'score': 9.76}, {'connected_gene': 'NRBP1', 'score': 9.76}, {'connected_gene': 'PIR62267', 'score': 0.77}, {'connected_gene': 'SLC4A1AP', 'score': 0.44}, {'connected_gene': 'SUPT7L', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027703	27703314	27707399	1.39	[{'connected_gene': 'CCDC121', 'score': 10.04}, {'connected_gene': 'GPN1', 'score': 10.04}, {'connected_gene': 'FNDC4', 'score': 6.45}, {'connected_gene': 'OST4', 'score': 4.24}, {'connected_gene': 'LINC01460', 'score': 0.39}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'SUPT7L', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027565	27565718	27568047	0.31	[{'connected_gene': 'FNDC4', 'score': 18.14}, {'connected_gene': 'IFT172', 'score': 10.61}, {'connected_gene': 'GCKR', 'score': 10.6}, {'connected_gene': 'CCDC121', 'score': 10.54}, {'connected_gene': 'GPN1', 'score': 10.54}, {'connected_gene': 'KRTCAP3', 'score': 10.31}, {'connected_gene': 'NRBP1', 'score': 10.3}, {'connected_gene': 'RNU6-986P', 'score': 9.39}, {'connected_gene': 'CGREF1', 'score': 4.14}, {'connected_gene': 'LOC100420668', 'score': 0.77}, {'connected_gene': 'C2orf16', 'score': 0.31}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027353	27353349	27354981	1.11	[{'connected_gene': 'MPV17', 'score': 11.27}, {'connected_gene': 'ZNF513', 'score': 11.24}, {'connected_gene': 'UCN', 'score': 11.21}, {'connected_gene': 'TRIM54', 'score': 11.15}, {'connected_gene': 'NRBP1', 'score': 10.41}, {'connected_gene': 'KRTCAP3', 'score': 10.04}, {'connected_gene': 'IFT172', 'score': 9.99}, {'connected_gene': 'ATRAID', 'score': 9.76}, {'connected_gene': 'SLC5A6', 'score': 9.76}, {'connected_gene': 'PREB', 'score': 9.28}, {'connected_gene': 'ZNF512', 'score': 9.05}, {'connected_gene': 'CCDC121', 'score': 8.49}, {'connected_gene': 'GPN1', 'score': 8.49}, {'connected_gene': 'MAPRE3', 'score': 4.17}, {'connected_gene': 'GTF3C2', 'score': 0.77}, {'connected_gene': 'LOC105374363', 'score': 0.77}, {'connected_gene': 'GTF3C2-AS1', 'score': 0.37}]
chr2	GH02I027427	27427416	27432200	2.06	[{'connected_gene': 'NRBP1', 'score': 550.77}, {'connected_gene': 'GC02M027429', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 49.98}, {'connected_gene': 'ZNF513', 'score': 10.83}, {'connected_gene': 'GCKR', 'score': 10.59}, {'connected_gene': 'FNDC4', 'score': 10.59}, {'connected_gene': 'IFT172', 'score': 10.45}, {'connected_gene': 'RNU6-986P', 'score': 10.32}, {'connected_gene': 'CCDC121', 'score': 10.04}, {'connected_gene': 'GPN1', 'score': 10.04}]
chr2	GH02I028412	28412939	28415293	0.83	[{'connected_gene': 'IFT172', 'score': 14.15}, {'connected_gene': 'LOC102723530', 'score': 12.34}, {'connected_gene': 'PLB1', 'score': 12.32}, {'connected_gene': 'SNRPGP7', 'score': 12.31}, {'connected_gene': 'CCDC121', 'score': 10.8}, {'connected_gene': 'ENSG00000270210', 'score': 9.13}, {'connected_gene': 'ENSG00000270640', 'score': 0.37}, {'connected_gene': 'FOSL2', 'score': 0.34}]
chr2	GH02I027684	27684445	27687171	0.63	[{'connected_gene': 'SLC4A1AP', 'score': 21.16}, {'connected_gene': 'SUPT7L', 'score': 12.0}, {'connected_gene': 'LINC01460', 'score': 11.39}, {'connected_gene': 'CCDC121', 'score': 10.51}, {'connected_gene': 'GPN1', 'score': 10.51}, {'connected_gene': 'ZNF512', 'score': 10.25}, {'connected_gene': 'C2orf16', 'score': 9.65}, {'connected_gene': 'KRTCAP3', 'score': 7.13}, {'connected_gene': 'OST4', 'score': 4.2}, {'connected_gene': 'LOC105374378', 'score': 0.29}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027689	27689534	27689763	0.2	[{'connected_gene': 'SLC4A1AP', 'score': 11.98}, {'connected_gene': 'SUPT7L', 'score': 11.98}, {'connected_gene': 'LINC01460', 'score': 11.41}, {'connected_gene': 'CCDC121', 'score': 10.5}, {'connected_gene': 'GPN1', 'score': 10.5}, {'connected_gene': 'ZNF512', 'score': 10.25}, {'connected_gene': 'C2orf16', 'score': 9.64}, {'connected_gene': 'LOC105374378', 'score': 0.31}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027656	27656007	27656298	0.22	[{'connected_gene': 'SLC4A1AP', 'score': 12.91}, {'connected_gene': 'GPN1', 'score': 12.42}, {'connected_gene': 'CCDC121', 'score': 11.9}, {'connected_gene': 'ZNF512', 'score': 11.09}, {'connected_gene': 'IFT172', 'score': 10.57}, {'connected_gene': 'NRBP1', 'score': 10.32}, {'connected_gene': 'KRTCAP3', 'score': 9.14}, {'connected_gene': 'SLC5A6', 'score': 5.71}, {'connected_gene': 'SUPT7L', 'score': 3.06}, {'connected_gene': 'GTF3C2', 'score': 2.72}, {'connected_gene': 'BABAM2', 'score': 2.24}, {'connected_gene': 'PIR62267', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027626	27626253	27630048	2.26	[{'connected_gene': 'GPN1', 'score': 572.56}, {'connected_gene': 'CCDC121', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 25.28}, {'connected_gene': 'CAD', 'score': 18.86}, {'connected_gene': 'GTF3C2', 'score': 17.42}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.62}, {'connected_gene': 'NRBP1', 'score': 14.46}, {'connected_gene': 'EIF2B4', 'score': 14.37}, {'connected_gene': 'ZNF513', 'score': 12.84}, {'connected_gene': 'PPM1G', 'score': 11.81}, {'connected_gene': 'LOC105374363', 'score': 11.25}, {'connected_gene': 'TMEM214', 'score': 9.7}, {'connected_gene': 'FNDC4', 'score': 6.11}, {'connected_gene': 'MAPRE3', 'score': 4.15}, {'connected_gene': 'ENSG00000259080', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027711	27711593	27713765	0.43	[{'connected_gene': 'LOC102723530', 'score': 9.93}, {'connected_gene': 'SNRPGP7', 'score': 9.93}, {'connected_gene': 'PLB1', 'score': 9.93}, {'connected_gene': 'FLJ31356', 'score': 9.88}, {'connected_gene': 'FOSL2', 'score': 9.88}, {'connected_gene': 'SNX17', 'score': 9.16}, {'connected_gene': 'CCDC121', 'score': 9.09}, {'connected_gene': 'GPN1', 'score': 9.09}, {'connected_gene': 'ZNF512', 'score': 9.04}, {'connected_gene': 'RNU6-986P', 'score': 8.57}, {'connected_gene': 'FNDC4', 'score': 7.33}, {'connected_gene': 'LINC01460', 'score': 0.77}, {'connected_gene': 'LOC105374378', 'score': 0.77}, {'connected_gene': 'SUPT7L', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027801	27801946	27802023	0.49	[{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'FNDC4', 'score': 9.89}, {'connected_gene': 'MRPL33', 'score': 5.9}, {'connected_gene': 'CCDC121', 'score': 2.87}, {'connected_gene': 'IFT172', 'score': 2.6}, {'connected_gene': 'ZNF512', 'score': 1.86}, {'connected_gene': 'SLC4A1AP', 'score': 1.85}, {'connected_gene': 'SUPT7L', 'score': 1.64}, {'connected_gene': 'GPN1', 'score': 1.23}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027680	27680832	27684322	1.33	[{'connected_gene': 'LINC01460', 'score': 11.39}, {'connected_gene': 'SLC4A1AP', 'score': 10.83}, {'connected_gene': 'CCDC121', 'score': 10.52}, {'connected_gene': 'GPN1', 'score': 10.52}, {'connected_gene': 'ZNF512', 'score': 10.26}, {'connected_gene': 'C2orf16', 'score': 9.65}, {'connected_gene': 'SUPT7L', 'score': 0.37}, {'connected_gene': 'LOC105374378', 'score': 0.29}, {'connected_gene': 'GC02M027478', 'score': 0.04}]