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
ENST00000219169	[[67880634, 67880888], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67906470]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
ENST00000568390	[[67880825, 67880888], [67899004, 67899132], [67902242, 67902644]]	None
ENST00000568233	[[67880837, 67880888], [67899004, 67899132], [67902242, 67902314], [67902403, 67902741]]	None
ENST00000567105	[[67880837, 67880888], [67881180, 67881359], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904755]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904755]]
ENST00000569436	[[67881063, 67881359], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67905226]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
ENST00000568396	[[67881113, 67881469], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67905226]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
ENST00000570026	[[67881244, 67881359], [67899004, 67899132], [67902242, 67902399]]	None
ENST00000587481	[[67903862, 67906470]]	None
NM_005796	[[67880634, 67880888], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67906470]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
NM_001322038	[[67880634, 67880888], [67894363, 67894453], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67906470]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
NM_001322039	[[67880634, 67880888], [67881180, 67881359], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67906470]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
NM_001322040	[[67881016, 67881359], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67906470]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]
NM_001322041	[[67881016, 67881469], [67899004, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67906470]]	[[67899033, 67899132], [67902242, 67902314], [67902403, 67902502], [67904702, 67904816]]

Promoter

Chrom	Start	End	Description
chr16	67880574	67880608	CAGE_peak_4_at_NUTF2_5end
chr16	67880779	67880790	CAGE_peak_2_at_NUTF2_5end
chr16	67880820	67880844	CAGE_peak_1_at_NUTF2_5end
chr16	67899006	67899024	CAGE_peak_3_at_NUTF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I067864	67864677	67865158	0.31	[{'connected_gene': 'RANBP10', 'score': 7.98}, {'connected_gene': 'ENSG00000262141', 'score': 0.44}, {'connected_gene': 'GC16P067869', 'score': 0.44}, {'connected_gene': 'NUTF2', 'score': 0.37}]
chr16	GH16I067841	67841264	67848714	2.12	[{'connected_gene': 'THAP11', 'score': 568.89}, {'connected_gene': 'NUTF2', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 39.59}, {'connected_gene': 'ENKD1', 'score': 29.28}, {'connected_gene': 'NAE1', 'score': 28.36}, {'connected_gene': 'EDC4', 'score': 21.74}, {'connected_gene': 'RANBP10', 'score': 21.3}, {'connected_gene': 'ZFP90', 'score': 20.83}, {'connected_gene': 'CTCF', 'score': 19.79}, {'connected_gene': 'ENSG00000262514', 'score': 12.11}, {'connected_gene': 'ENSG00000263276', 'score': 11.79}, {'connected_gene': 'DUS2', 'score': 11.17}, {'connected_gene': 'ACD', 'score': 11.13}, {'connected_gene': 'CENPT', 'score': 10.74}, {'connected_gene': 'NFATC3', 'score': 10.5}, {'connected_gene': 'SLC7A6OS', 'score': 10.09}, {'connected_gene': 'FBXL8', 'score': 9.8}, {'connected_gene': 'PRMT7', 'score': 9.77}, {'connected_gene': 'DPEP2', 'score': 7.3}, {'connected_gene': 'HSD11B2', 'score': 4.78}, {'connected_gene': 'FAM96B', 'score': 4.55}, {'connected_gene': 'GC16P067843', 'score': 0.77}]
chr16	GH16I067871	67871418	67874903	2.1	[{'connected_gene': 'EDC4', 'score': 565.92}, {'connected_gene': 'GC16M067866', 'score': 550.77}, {'connected_gene': 'ACD', 'score': 21.97}, {'connected_gene': 'ZFP90', 'score': 21.74}, {'connected_gene': 'ENSG00000263276', 'score': 19.21}, {'connected_gene': 'PRMT7', 'score': 19.2}, {'connected_gene': 'ENSG00000270165', 'score': 15.62}, {'connected_gene': 'E2F4', 'score': 15.57}, {'connected_gene': 'CTCF', 'score': 14.8}, {'connected_gene': 'RANBP10', 'score': 14.74}, {'connected_gene': 'CENPT', 'score': 13.7}, {'connected_gene': 'FBXL8', 'score': 12.28}, {'connected_gene': 'KIAA0895L', 'score': 11.97}, {'connected_gene': 'DUS2', 'score': 11.2}, {'connected_gene': 'NAE1', 'score': 10.8}, {'connected_gene': 'ENSG00000260891', 'score': 10.41}, {'connected_gene': 'DPEP2', 'score': 8.93}, {'connected_gene': 'GC16P067869', 'score': 0.77}, {'connected_gene': 'NUTF2', 'score': 0.31}]
chr16	GH16I067860	67860247	67864362	1.12	[{'connected_gene': 'NRN1L', 'score': 11.69}, {'connected_gene': 'THAP11', 'score': 11.61}, {'connected_gene': 'PSKH1', 'score': 11.45}, {'connected_gene': 'RANBP10', 'score': 11.0}, {'connected_gene': 'TSNAXIP1', 'score': 11.0}, {'connected_gene': 'RIPOR1', 'score': 10.0}, {'connected_gene': 'PRMT7', 'score': 9.64}, {'connected_gene': 'PARD6A', 'score': 9.63}, {'connected_gene': 'ACD', 'score': 9.63}, {'connected_gene': 'CARMIL2', 'score': 9.28}, {'connected_gene': 'DPEP2', 'score': 9.06}, {'connected_gene': 'TPPP3', 'score': 4.33}, {'connected_gene': 'CENPT', 'score': 2.39}, {'connected_gene': 'ENSG00000262141', 'score': 0.44}, {'connected_gene': 'GC16P067869', 'score': 0.44}, {'connected_gene': 'NUTF2', 'score': 0.37}]
chr16	GH16I067908	67908535	67908990	0.2	[{'connected_gene': 'NRN1L', 'score': 11.55}, {'connected_gene': 'EDC4', 'score': 11.02}, {'connected_gene': 'NUTF2', 'score': 10.79}, {'connected_gene': 'THAP11', 'score': 10.79}, {'connected_gene': 'DUS2', 'score': 10.57}, {'connected_gene': 'PARD6A', 'score': 10.49}, {'connected_gene': 'ACD', 'score': 10.49}, {'connected_gene': 'DDX28', 'score': 9.81}, {'connected_gene': 'PSKH1', 'score': 0.37}, {'connected_gene': 'CTRL', 'score': 0.34}]
chr16	GH16I067909	67909620	67910735	0.66	[{'connected_gene': 'NRN1L', 'score': 11.53}, {'connected_gene': 'EDC4', 'score': 11.02}, {'connected_gene': 'NUTF2', 'score': 10.79}, {'connected_gene': 'THAP11', 'score': 10.79}, {'connected_gene': 'DUS2', 'score': 10.57}, {'connected_gene': 'PARD6A', 'score': 10.49}, {'connected_gene': 'ACD', 'score': 10.49}, {'connected_gene': 'DDX28', 'score': 9.82}, {'connected_gene': 'TPPP3', 'score': 3.73}, {'connected_gene': 'PSKH1', 'score': 0.37}, {'connected_gene': 'CTRL', 'score': 0.34}]
chr16	GH16I067560	67560253	67566097	2.56	[{'connected_gene': 'CTCF', 'score': 561.08}, {'connected_gene': 'ENSG00000261386', 'score': 550.77}, {'connected_gene': 'GC16M067560', 'score': 550.77}, {'connected_gene': 'ENSG00000259804', 'score': 550.77}, {'connected_gene': 'ZFP90', 'score': 20.83}, {'connected_gene': 'NFATC3', 'score': 17.09}, {'connected_gene': 'ATP6V0D1', 'score': 15.65}, {'connected_gene': 'EDC4', 'score': 12.85}, {'connected_gene': 'ZDHHC1', 'score': 12.38}, {'connected_gene': 'ENSG00000262514', 'score': 12.08}, {'connected_gene': 'ENSG00000263276', 'score': 11.77}, {'connected_gene': 'ACD', 'score': 11.43}, {'connected_gene': 'ENKD1', 'score': 11.14}, {'connected_gene': 'RANBP10', 'score': 10.14}, {'connected_gene': 'SLC7A6OS', 'score': 10.07}, {'connected_gene': 'THAP11', 'score': 10.03}, {'connected_gene': 'NAE1', 'score': 9.84}, {'connected_gene': 'FBXL8', 'score': 9.83}, {'connected_gene': 'SLC7A6', 'score': 8.61}, {'connected_gene': 'DUS2', 'score': 4.88}, {'connected_gene': 'NUTF2', 'score': 4.76}, {'connected_gene': 'CARMIL2', 'score': 2.32}]
chr16	GH16I067854	67854951	67859399	1.48	[{'connected_gene': 'ENSG00000262141', 'score': 550.77}, {'connected_gene': 'RANBP10', 'score': 22.16}, {'connected_gene': 'ACD', 'score': 16.33}, {'connected_gene': 'NRN1L', 'score': 11.66}, {'connected_gene': 'TSNAXIP1', 'score': 11.22}, {'connected_gene': 'DUS2', 'score': 11.18}, {'connected_gene': 'PSKH1', 'score': 11.1}, {'connected_gene': 'PARD6A', 'score': 10.26}, {'connected_gene': 'RIPOR1', 'score': 10.01}, {'connected_gene': 'PRMT7', 'score': 9.98}, {'connected_gene': 'SLC7A6', 'score': 3.88}, {'connected_gene': 'TPPP3', 'score': 3.75}, {'connected_gene': 'EDC4', 'score': 2.28}, {'connected_gene': 'THAP11', 'score': 2.01}, {'connected_gene': 'NFATC3', 'score': 1.66}, {'connected_gene': 'PSMB10', 'score': 1.4}, {'connected_gene': 'CARMIL2', 'score': 1.28}, {'connected_gene': 'NUTF2', 'score': 0.39}, {'connected_gene': 'GC16P067869', 'score': 0.39}]
chr16	GH16I067865	67865418	67865587	0.72	[{'connected_gene': 'GC16P067869', 'score': 0.77}, {'connected_gene': 'ENSG00000262141', 'score': 0.44}, {'connected_gene': 'NUTF2', 'score': 0.37}]