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
ENST00000530069	[[67429632, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67448646, 67448671]]	[[67430685, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434406]]
ENST00000349015	[[67429633, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67441907, 67442102]]	[[67430685, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434406]]
ENST00000531248	[[67430537, 67430870], [67431891, 67432033], [67432755, 67432772]]	[[67430644, 67430870], [67431891, 67432033], [67432755, 67432772]]
ENST00000534425	[[67431699, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106]]	None
ENST00000525827	[[67433018, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67442163, 67442202]]	[[67433018, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434406]]
ENST00000528756	[[67433627, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67435408, 67435441]]	[[67433627, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434406]]
ENST00000531881	[[67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67438533, 67438792], [67441204, 67441262]]	None
ENST00000533962	[[67434117, 67434165], [67434376, 67434487], [67434943, 67435106], [67438533, 67438796]]	None
NM_000695	[[67429632, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67441907, 67442102]]	[[67430685, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434406]]
NM_001031615	[[67429632, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434487], [67434943, 67435106], [67448646, 67448685]]	[[67430685, 67430870], [67431132, 67431232], [67431866, 67432033], [67432755, 67433142], [67433592, 67433674], [67433786, 67433872], [67434044, 67434165], [67434376, 67434406]]

Promoter

Chrom	Start	End	Description
chr11	67442013	67442036	CAGE_peak_3_at_ALDH3B2_5end
chr11	67442051	67442072	CAGE_peak_2_at_ALDH3B2_5end
chr11	67442079	67442102	CAGE_peak_1_at_ALDH3B2_5end
chr11	67442169	67442179	CAGE_peak_5_at_ALDH3B2_5end
chr11	67442196	67442216	CAGE_peak_4_at_ALDH3B2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I067727	67727665	67729252	0.46	[{'connected_gene': 'ACY3', 'score': 11.6}, {'connected_gene': 'ENSG00000227834', 'score': 11.6}, {'connected_gene': 'NUDT8', 'score': 11.21}, {'connected_gene': 'ALDH3B2', 'score': 10.51}, {'connected_gene': 'FAM86C2P', 'score': 4.73}, {'connected_gene': 'OR7E145P', 'score': 0.77}, {'connected_gene': 'ENSG00000254883', 'score': 0.37}]
chr11	GH11I067646	67646132	67649519	1.74	[{'connected_gene': 'ACY3', 'score': 557.59}, {'connected_gene': 'ALDH3B2', 'score': 27.26}, {'connected_gene': 'UNC93B1', 'score': 12.59}, {'connected_gene': 'RPL37P2', 'score': 12.07}, {'connected_gene': 'NUDT8', 'score': 5.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
chr11	GH11I067649	67649690	67649839	0.72	[{'connected_gene': 'ACY3', 'score': 550.77}, {'connected_gene': 'ALDH3B2', 'score': 32.04}, {'connected_gene': 'RPL37P2', 'score': 12.09}, {'connected_gene': 'NUDT8', 'score': 5.42}, {'connected_gene': 'TBX10', 'score': 0.39}]
chr11	GH11I067650	67650001	67651389	1.84	[{'connected_gene': 'ACY3', 'score': 550.77}, {'connected_gene': 'ALDH3B2', 'score': 31.89}, {'connected_gene': 'RPL37P2', 'score': 12.09}, {'connected_gene': 'NUDT8', 'score': 5.35}, {'connected_gene': 'TBX10', 'score': 0.39}]
chr11	GH11I067560	67560925	67564843	1.34	[{'connected_gene': 'PTPRCAP', 'score': 24.9}, {'connected_gene': 'AIP', 'score': 17.07}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'NDUFV1', 'score': 15.88}, {'connected_gene': 'ENSG00000258297', 'score': 14.98}, {'connected_gene': 'PPP6R3', 'score': 14.64}, {'connected_gene': 'RBM14', 'score': 13.24}, {'connected_gene': 'CABP2', 'score': 11.76}, {'connected_gene': 'C11orf72', 'score': 11.73}, {'connected_gene': 'ENSG00000255119', 'score': 11.73}, {'connected_gene': 'DOC2GP', 'score': 11.7}, {'connected_gene': 'NUDT8', 'score': 11.32}, {'connected_gene': 'TBX10', 'score': 11.3}, {'connected_gene': 'ACY3', 'score': 11.11}, {'connected_gene': 'ENSG00000227834', 'score': 11.1}, {'connected_gene': 'RBM4', 'score': 9.95}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'CDK2AP2', 'score': 4.69}, {'connected_gene': 'GC11M067541', 'score': 0.34}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11	GH11I067544	67544193	67545630	1.13	[{'connected_gene': 'PTPRCAP', 'score': 28.78}, {'connected_gene': 'ALDH3B2', 'score': 6.1}, {'connected_gene': 'FAM86C2P', 'score': 4.65}, {'connected_gene': 'GC11M067541', 'score': 0.77}, {'connected_gene': 'GSTP1', 'score': 0.28}]
chr11	GH11I067557	67557530	67560270	1.4	[{'connected_gene': 'PTPRCAP', 'score': 25.85}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'NDUFV1', 'score': 4.4}, {'connected_gene': 'NUDT8', 'score': 4.17}, {'connected_gene': 'CDK2AP2', 'score': 2.51}, {'connected_gene': 'GC11M067541', 'score': 0.37}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11	GH11I067482	67482216	67488518	2.49	[{'connected_gene': 'AIP', 'score': 552.1}, {'connected_gene': 'GC11P067486', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 54.41}, {'connected_gene': 'RBM4B', 'score': 13.67}, {'connected_gene': 'KMT5B', 'score': 13.52}, {'connected_gene': 'RBM14', 'score': 13.51}, {'connected_gene': 'BBS1', 'score': 13.28}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'ENSG00000258297', 'score': 10.72}, {'connected_gene': 'RBM4', 'score': 9.68}, {'connected_gene': 'ALDH3B2', 'score': 7.13}, {'connected_gene': 'NUDT8', 'score': 2.1}]
chr11	GH11I067572	67572290	67573729	1.35	[{'connected_gene': 'NDUFV1', 'score': 16.2}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'RBM4B', 'score': 12.61}, {'connected_gene': 'C11orf72', 'score': 12.05}, {'connected_gene': 'ENSG00000255119', 'score': 12.05}, {'connected_gene': 'DOC2GP', 'score': 12.01}, {'connected_gene': 'NUDT8', 'score': 11.98}, {'connected_gene': 'TBX10', 'score': 11.97}, {'connected_gene': 'KDM2A', 'score': 11.67}, {'connected_gene': 'PPP6R3', 'score': 11.64}, {'connected_gene': 'AIP', 'score': 11.55}, {'connected_gene': 'ACY3', 'score': 11.13}, {'connected_gene': 'ENSG00000227834', 'score': 11.12}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'KMT5B', 'score': 10.06}, {'connected_gene': 'ALDH3B2', 'score': 6.12}, {'connected_gene': 'GSTP1', 'score': 0.39}, {'connected_gene': 'GC11M067541', 'score': 0.29}]
chr11	GH11I067579	67579219	67589454	2.46	[{'connected_gene': 'GSTP1', 'score': 550.77}, {'connected_gene': 'ENSG00000255119', 'score': 39.0}, {'connected_gene': 'NUDT8', 'score': 36.19}, {'connected_gene': 'PTPRCAP', 'score': 24.66}, {'connected_gene': 'NDUFV1', 'score': 18.26}, {'connected_gene': 'C11orf72', 'score': 12.6}, {'connected_gene': 'DOC2GP', 'score': 12.56}, {'connected_gene': 'RHOD', 'score': 11.38}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ALDH3B2', 'score': 6.44}, {'connected_gene': 'CDK2AP2', 'score': 6.2}, {'connected_gene': 'ACY3', 'score': 4.82}, {'connected_gene': 'FAM86C2P', 'score': 4.06}, {'connected_gene': 'GC11P067588', 'score': 0.77}, {'connected_gene': 'GC11M067584', 'score': 0.26}]
chr11	GH11I067673	67673220	67676033	1.26	[{'connected_gene': 'ALDH3B2', 'score': 569.76}, {'connected_gene': 'GC11M067673', 'score': 550.77}, {'connected_gene': 'GC11M067674', 'score': 550.77}, {'connected_gene': 'GC11M067672', 'score': 550.77}, {'connected_gene': 'ACY3', 'score': 10.41}, {'connected_gene': 'RAD9A', 'score': 5.43}, {'connected_gene': 'NUDT8', 'score': 4.61}]
chr11	GH11I067667	67667713	67668587	0.59	[{'connected_gene': 'ALDH3B2', 'score': 23.44}, {'connected_gene': 'TBX10', 'score': 12.3}, {'connected_gene': 'NUDT8', 'score': 12.26}, {'connected_gene': 'GC11M067673', 'score': 0.44}, {'connected_gene': 'GC11P067662', 'score': 0.44}]
chr11	GH11I067657	67657950	67658099	0.49	[{'connected_gene': 'ALDH3B2', 'score': 20.75}, {'connected_gene': 'NUDT8', 'score': 9.46}, {'connected_gene': 'GC11P067662', 'score': 0.77}, {'connected_gene': 'ENSG00000227834', 'score': 0.77}]
chr11	GH11I067659	67659201	67659744	1	[{'connected_gene': 'ALDH3B2', 'score': 8.42}, {'connected_gene': 'NUDT8', 'score': 6.23}, {'connected_gene': 'GC11P067662', 'score': 0.77}, {'connected_gene': 'ENSG00000227834', 'score': 0.44}]
chr11	GH11I067671	67671528	67671587	0.5	[{'connected_gene': 'ALDH3B2', 'score': 550.44}, {'connected_gene': 'GC11M067673', 'score': 0.77}, {'connected_gene': 'GC11P067662', 'score': 0.44}]
chr11	GH11I067683	67682270	67682419	0.57	[{'connected_gene': 'RPL37P2', 'score': 550.77}, {'connected_gene': 'GC11M067683', 'score': 550.77}, {'connected_gene': 'GC11M067684', 'score': 550.77}, {'connected_gene': 'ALDH3B2', 'score': 550.77}]
chr11	GH11I067682	67682090	67682239	0.57	[{'connected_gene': 'RPL37P2', 'score': 550.77}, {'connected_gene': 'GC11M067683', 'score': 550.77}, {'connected_gene': 'GC11M067684', 'score': 550.77}, {'connected_gene': 'ALDH3B2', 'score': 550.77}]
chr11	GH11I066987	66987210	66987937	0.77	[{'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'EIF1AD', 'score': 11.55}, {'connected_gene': 'RBM14', 'score': 11.3}, {'connected_gene': 'PC', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.66}, {'connected_gene': 'ENSG00000258297', 'score': 10.65}, {'connected_gene': 'ALDH3B2', 'score': 6.14}, {'connected_gene': 'C11orf86', 'score': 0.39}, {'connected_gene': 'SYT12', 'score': 0.37}]
chr11	GH11I068052	68052372	68053094	0.58	[{'connected_gene': 'ENSG00000255031', 'score': 558.42}, {'connected_gene': 'ALDH3B2', 'score': 4.17}, {'connected_gene': 'GC11M068058', 'score': 0.44}, {'connected_gene': 'CHKA', 'score': 0.2}]