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
ENST00000336023	[[49521564, 49522721], [49523024, 49523173], [49523282, 49523505], [49525080, 49525178]]	[[49521740, 49522721], [49523024, 49523173], [49523282, 49523505], [49525080, 49525083]]
ENST00000332858	[[49521568, 49522721], [49523024, 49523173], [49523282, 49525178]]	None
ENST00000547765	[[49521600, 49522721], [49523024, 49523173], [49523282, 49523505], [49523901, 49524185], [49525080, 49525178]]	[[49524038, 49524185], [49525080, 49525083]]
ENST00000550367	[[49522236, 49522568], [49522688, 49522721], [49523024, 49523173], [49523282, 49523505], [49525080, 49525178]]	[[49522236, 49522568], [49522688, 49522721], [49523024, 49523173], [49523282, 49523505], [49525080, 49525083]]
ENST00000551324	[[49522763, 49523505], [49525080, 49525178]]	None
ENST00000549870	[[49523050, 49523173], [49523282, 49523505], [49523677, 49523896]]	[[49523050, 49523173], [49523282, 49523403]]
ENST00000547476	[[49523068, 49523173], [49523282, 49523505], [49523901, 49524057], [49525080, 49525180]]	[[49523068, 49523173], [49523282, 49523403]]
ENST00000552984	[[49523146, 49523173], [49523282, 49523505], [49523901, 49524127], [49525080, 49525178]]	[[49523146, 49523173], [49523282, 49523403]]
NM_006082	[[49521564, 49522721], [49523024, 49523173], [49523282, 49523505], [49525080, 49525304]]	[[49521740, 49522721], [49523024, 49523173], [49523282, 49523505], [49525080, 49525083]]

Promoter

Chrom	Start	End	Description
chr12	49523320	49523345	CAGE_peak_2_at_TUBA1B_5end
chr12	49523364	49523381	CAGE_peak_4_at_TUBA1B_5end
chr12	49524009	49524032	CAGE_peak_6_at_TUBA1B_5end
chr12	49524045	49524086	CAGE_peak_3_at_TUBA1B_5end
chr12	49524087	49524122	CAGE_peak_5_at_TUBA1B_5end
chr12	49524124	49524134	CAGE_peak_8_at_TUBA1B_5end
chr12	49525175	49525180	CAGE_peak_1_at_TUBA1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I049263	49263246	49269811	2.33	[{'connected_gene': 'TUBA1C', 'score': 558.41}, {'connected_gene': 'ENSG00000258101', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 109.13}, {'connected_gene': 'KMT2D', 'score': 88.59}, {'connected_gene': 'CCNT1', 'score': 87.01}, {'connected_gene': 'LMBR1L', 'score': 74.64}, {'connected_gene': 'LOC390314', 'score': 72.66}, {'connected_gene': 'KANSL2', 'score': 70.28}, {'connected_gene': 'SMARCD1', 'score': 70.27}, {'connected_gene': 'BCDIN3D', 'score': 63.71}, {'connected_gene': 'ENSG00000257298', 'score': 33.03}, {'connected_gene': 'ENSG00000257964', 'score': 29.96}, {'connected_gene': 'PRPH', 'score': 22.63}, {'connected_gene': 'LOC101927267', 'score': 21.64}, {'connected_gene': 'C1QL4', 'score': 18.38}, {'connected_gene': 'LOC100422296', 'score': 12.79}, {'connected_gene': 'PRPF40B', 'score': 10.76}, {'connected_gene': 'CACNB3', 'score': 10.02}, {'connected_gene': 'SPATS2', 'score': 9.94}, {'connected_gene': 'ADCY6', 'score': 9.77}, {'connected_gene': 'ZNF641', 'score': 9.74}, {'connected_gene': 'LOC105369760', 'score': 6.08}, {'connected_gene': 'TUBA1B', 'score': 4.73}, {'connected_gene': 'ENSG00000258232', 'score': 0.44}]
chr12	GH12I049230	49230400	49235927	1.82	[{'connected_gene': 'TUBA1C', 'score': 20.15}, {'connected_gene': 'LOC105369760', 'score': 14.32}, {'connected_gene': 'TUBA1A', 'score': 14.09}, {'connected_gene': 'LMBR1L', 'score': 12.32}, {'connected_gene': 'RHEBL1', 'score': 11.07}, {'connected_gene': 'TUBA1B', 'score': 4.3}, {'connected_gene': 'ENSG00000258101', 'score': 0.29}, {'connected_gene': 'ENSG00000274017', 'score': 0.28}]
chr12	GH12I049247	49247243	49247463	0.44	[{'connected_gene': 'TUBA1A', 'score': 11.1}, {'connected_gene': 'TUBA1C', 'score': 11.1}, {'connected_gene': 'PRPH', 'score': 10.81}, {'connected_gene': 'C1QL4', 'score': 10.33}, {'connected_gene': 'KMT2D', 'score': 10.31}, {'connected_gene': 'TUBA1B', 'score': 4.23}, {'connected_gene': 'ENSG00000258101', 'score': 0.37}, {'connected_gene': 'ENSG00000274017', 'score': 0.23}]
chr12	GH12I048809	48809980	48816652	2.48	[{'connected_gene': 'CACNB3', 'score': 561.26}, {'connected_gene': 'LOC101927241', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 35.85}, {'connected_gene': 'CCNT1', 'score': 33.81}, {'connected_gene': 'LMBR1L', 'score': 32.07}, {'connected_gene': 'SENP1', 'score': 30.19}, {'connected_gene': 'KMT2D', 'score': 28.01}, {'connected_gene': 'LOC390314', 'score': 27.76}, {'connected_gene': 'KANSL2', 'score': 22.25}, {'connected_gene': 'LOC101927267', 'score': 18.69}, {'connected_gene': 'HDAC7', 'score': 15.47}, {'connected_gene': 'PRPF40B', 'score': 10.96}, {'connected_gene': 'TUBA1B', 'score': 4.59}, {'connected_gene': 'ENSG00000207467', 'score': 0.77}, {'connected_gene': 'GC12P048810', 'score': 0.77}]
chr12	GH12I049820	49820602	49821907	0.96	[{'connected_gene': 'TUBA1B', 'score': 4.86}, {'connected_gene': 'ASIC1', 'score': 4.5}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.77}, {'connected_gene': 'NCKAP5L', 'score': 0.44}, {'connected_gene': 'BCDIN3D-AS1', 'score': 0.44}, {'connected_gene': 'GC12P049810', 'score': 0.39}]
chr12	GH12I049129	49129079	49133654	2.35	[{'connected_gene': 'ENSG00000200309', 'score': 550.77}, {'connected_gene': 'TUBA1B', 'score': 550.77}, {'connected_gene': 'GC12M049133', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 103.71}, {'connected_gene': 'LMBR1L', 'score': 94.6}, {'connected_gene': 'KMT2D', 'score': 90.82}, {'connected_gene': 'SMARCD1', 'score': 89.14}, {'connected_gene': 'LOC390314', 'score': 77.32}, {'connected_gene': 'BCDIN3D', 'score': 69.37}, {'connected_gene': 'CCNT1', 'score': 68.9}, {'connected_gene': 'PRPF40B', 'score': 64.33}, {'connected_gene': 'KANSL2', 'score': 63.56}, {'connected_gene': 'LOC100422296', 'score': 43.94}, {'connected_gene': 'OR5BK1P', 'score': 39.52}, {'connected_gene': 'ENSG00000257964', 'score': 30.91}, {'connected_gene': 'LOC102725258', 'score': 29.89}, {'connected_gene': 'LOC105369760', 'score': 24.94}, {'connected_gene': 'FAM186B', 'score': 23.74}, {'connected_gene': 'ADCY6', 'score': 21.09}, {'connected_gene': 'LOC101927267', 'score': 19.71}, {'connected_gene': 'ENSG00000272368', 'score': 19.27}, {'connected_gene': 'SPATS2', 'score': 18.27}, {'connected_gene': 'CCDC184', 'score': 12.5}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.28}, {'connected_gene': 'CACNB3', 'score': 10.03}, {'connected_gene': 'OR8T1P', 'score': 9.77}, {'connected_gene': 'PRKAG1', 'score': 4.91}]