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
ENST00000428559	[[16064105, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16190220]]	[[16064317, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16189680]]
ENST00000526521	[[16064235, 16064348], [16109869, 16109967], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189226]]	[[16064317, 16064348], [16109869, 16109967], [16112762, 16112816]]
ENST00000524480	[[16064262, 16064348], [16069050, 16069250], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135292]]	[[16111256, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135292]]
ENST00000531803	[[16064292, 16064348], [16064624, 16064687], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185485]]	[[16064317, 16064348], [16064624, 16064687], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185485]]
ENST00000528821	[[16064296, 16064348], [16109869, 16109967], [16111173, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185982]]	[[16064317, 16064348], [16109869, 16109967], [16111173, 16111245]]
ENST00000532964	[[16064296, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16185475, 16185588], [16189165, 16189315], [16189623, 16189685]]	[[16064317, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16185475, 16185588], [16189165, 16189315], [16189623, 16189680]]
ENST00000533447	[[16104294, 16104391], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185591]]	[[16111256, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185591]]
ENST00000526530	[[16109521, 16109680], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16190214]]	[[16111256, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16189680]]
ENST00000530274	[[16115685, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16189747]]	None
ENST00000532573	[[16138105, 16138270], [16185475, 16185588], [16189165, 16189274]]	None
NM_001300779	[[16064105, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16185475, 16185588], [16189165, 16189315], [16189623, 16190315]]	[[16064317, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16185475, 16185588], [16189165, 16189315], [16189623, 16189680]]
NM_015954	[[16064105, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16190315]]	[[16064317, 16064348], [16109869, 16109967], [16111121, 16111269], [16112762, 16112858], [16115746, 16115881], [16135241, 16135370], [16185475, 16185588], [16189165, 16189315], [16189623, 16189680]]

Promoter

Chrom	Start	End	Description
chr12	16064227	16064238	CAGE_peak_3_at_DERA_5end
chr12	16064246	16064257	CAGE_peak_2_at_DERA_5end
chr12	16064258	16064308	CAGE_peak_1_at_DERA_5end
chr12	16109519	16109568	CAGE_peak_6_at_DERA_5end
chr12	16109643	16109659	CAGE_peak_5_at_DERA_5end
chr12	16115719	16115725	CAGE_peak_8_at_DERA_5end
chr12	16138073	16138085	CAGE_peak_4_at_DERA_5end
chr12	16138141	16138155	CAGE_peak_7_at_DERA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I015909	15909655	15912733	1.93	[{'connected_gene': 'DERA', 'score': 550.77}, {'connected_gene': 'SUPT16HP1', 'score': 10.35}, {'connected_gene': 'STRAP', 'score': 7.03}, {'connected_gene': 'EGLN3P1', 'score': 0.21}]
chr12	GH12I015955	15955422	15958274	0.46	[{'connected_gene': 'DERA', 'score': 5.8}, {'connected_gene': 'EGLN3P1', 'score': 0.37}]
chr12	GH12I015977	15977326	15981471	0.85	[{'connected_gene': 'DERA', 'score': 9.2}, {'connected_gene': 'EGLN3P1', 'score': 0.44}, {'connected_gene': 'GC12M015990', 'score': 0.39}]
chr12	GH12I015919	15919219	15920081	0.31	[{'connected_gene': 'DERA', 'score': 10.72}, {'connected_gene': 'EGLN3P1', 'score': 0.23}]
chr12	GH12I015962	15962228	15964206	0.54	[{'connected_gene': 'DERA', 'score': 10.86}, {'connected_gene': 'EGLN3P1', 'score': 0.44}]
chr12	GH12I015931	15931847	15931856	0.79	[{'connected_gene': 'DERA', 'score': 0.34}, {'connected_gene': 'EGLN3P1', 'score': 0.26}]
chr12	GH12I015927	15927575	15929670	0.91	[{'connected_gene': 'DERA', 'score': 8.52}, {'connected_gene': 'EGLN3P1', 'score': 0.26}]
chr12	GH12I015899	15899387	15899596	0.56	[{'connected_gene': 'STRAP', 'score': 7.08}, {'connected_gene': 'GC12M015893', 'score': 0.77}, {'connected_gene': 'DERA', 'score': 0.39}]
chr12	GH12I015972	15972271	15972479	0.22	[{'connected_gene': 'EGLN3P1', 'score': 550.77}, {'connected_gene': 'DERA', 'score': 0.21}]
chr12	GH12I016568	16568029	16569396	0.56	[{'connected_gene': 'ENSG00000256564', 'score': 550.77}, {'connected_gene': 'DERA', 'score': 4.17}, {'connected_gene': 'GC12M016551', 'score': 0.77}, {'connected_gene': 'LMO3', 'score': 0.26}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12	GH12I016033	16033056	16033301	0.4	[{'connected_gene': 'GC12M016017', 'score': 0.39}, {'connected_gene': 'GC12M016137', 'score': 0.13}, {'connected_gene': 'DERA', 'score': 0.13}]
chr12	GH12I016011	16011906	16012635	0.46	[{'connected_gene': 'GC12P016018', 'score': 0.44}, {'connected_gene': 'GC12M015996', 'score': 0.39}, {'connected_gene': 'DERA', 'score': 0.15}]
chr12	GH12I016017	16017656	16020056	1.18	[{'connected_gene': 'GC12P016018', 'score': 550.77}, {'connected_gene': 'GC12M016017', 'score': 0.77}, {'connected_gene': 'DERA', 'score': 0.14}]
chr12	GH12I015982	15982131	15983618	0.43	[{'connected_gene': 'GC12M015990', 'score': 0.44}, {'connected_gene': 'EGLN3P1', 'score': 0.39}, {'connected_gene': 'DERA', 'score': 0.19}]