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
ENST00000296978	[[130686878, 130687669], [130706317, 130706381], [130761551, 130764208]]	[[130761567, 130763043]]
ENST00000545622	[[130742246, 130742503], [130761551, 130763111]]	[[130761567, 130763043]]
ENST00000392429	[[130758261, 130760623], [130761551, 130764206]]	[[130761567, 130763043]]
NM_001258276	[[130687425, 130687669], [130761551, 130764212]]	[[130761567, 130763043]]
NM_001258277	[[130687425, 130687669], [130706317, 130706381], [130761551, 130764212]]	[[130761567, 130763043]]
NM_001258278	[[130742240, 130742503], [130761551, 130764212]]	[[130761567, 130763043]]
NM_052913	[[130758261, 130760623], [130761551, 130764212]]	[[130761567, 130763043]]

Promoter

Chrom	Start	End	Description
chr6	130686664	130686693	CAGE_peak_7_at_TMEM200A_5end
chr6	130686698	130686732	CAGE_peak_8_at_TMEM200A_5end
chr6	130686856	130686885	CAGE_peak_11_at_TMEM200A_5end
chr6	130687103	130687170	CAGE_peak_1_at_TMEM200A_5end
chr6	130687172	130687179	CAGE_peak_10_at_TMEM200A_5end
chr6	130687198	130687218	CAGE_peak_3_at_TMEM200A_5end
chr6	130687449	130687474	CAGE_peak_5_at_TMEM200A_5end
chr6	130687521	130687535	CAGE_peak_6_at_TMEM200A_5end
chr6	130687547	130687569	CAGE_peak_2_at_TMEM200A_5end
chr6	130687570	130687594	CAGE_peak_4_at_TMEM200A_5end
chr6	130687599	130687610	CAGE_peak_9_at_TMEM200A_5end
chr6	130687612	130687617	CAGE_peak_13_at_TMEM200A_5end
chr6	130742231	130742252	CAGE_peak_15_at_TMEM200A_5end
chr6	130757807	130757811	CAGE_peak_16_at_TMEM200A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I130364	130364484	130370743	2.27	[{'connected_gene': 'SAMD3', 'score': 560.21}, {'connected_gene': 'TMEM200A', 'score': 550.77}, {'connected_gene': 'LOC105378159', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.28}]
chr6	GH06I130371	130371245	130372835	0.31	[{'connected_gene': 'SAMD3', 'score': 9.93}, {'connected_gene': 'TMEM200A', 'score': 0.44}, {'connected_gene': 'LOC105378159', 'score': 0.39}, {'connected_gene': 'GC06M130284', 'score': 0.29}]
chr6	GH06I130453	130453264	130453593	0.79	[{'connected_gene': 'SAMD3', 'score': 25.02}, {'connected_gene': 'TMEM200A', 'score': 10.85}, {'connected_gene': 'GC06M130284', 'score': 0.25}, {'connected_gene': 'GC06M130560', 'score': 0.14}]
chr6	GH06I130424	130424662	130427020	0.38	[{'connected_gene': 'SAMD3', 'score': 9.98}, {'connected_gene': 'TMEM200A', 'score': 5.8}, {'connected_gene': 'GC06M130284', 'score': 0.34}, {'connected_gene': 'GC06M130560', 'score': 0.12}]
chr6	GH06I130422	130421435	130422511	0.38	[{'connected_gene': 'SAMD3', 'score': 9.88}, {'connected_gene': 'GC06M130284', 'score': 0.37}, {'connected_gene': 'TMEM200A', 'score': 0.22}, {'connected_gene': 'GC06M130560', 'score': 0.11}]
chr6	GH06I130221	130221681	130224558	1.49	[{'connected_gene': 'SAMD3', 'score': 555.95}, {'connected_gene': 'TMEM200A', 'score': 4.89}, {'connected_gene': 'ENSG00000227678', 'score': 0.18}]
chr6	GH06I130376	130376213	130379486	0.4	[{'connected_gene': 'SAMD3', 'score': 10.15}, {'connected_gene': 'LOC105378159', 'score': 0.44}, {'connected_gene': 'TMEM200A', 'score': 0.39}, {'connected_gene': 'GC06M130284', 'score': 0.31}]
chr6	GH06I130322	130322816	130322945	0.57	[{'connected_gene': 'TMEM200A', 'score': 11.38}, {'connected_gene': 'SAMD3', 'score': 11.38}, {'connected_gene': 'LOC105378159', 'score': 0.21}, {'connected_gene': 'GC06M130284', 'score': 0.18}, {'connected_gene': 'ENSG00000227678', 'score': 0.1}]
chr6	GH06I130324	130324796	130324945	0.38	[{'connected_gene': 'TMEM200A', 'score': 11.38}, {'connected_gene': 'SAMD3', 'score': 11.38}, {'connected_gene': 'LOC105378159', 'score': 0.22}, {'connected_gene': 'GC06M130284', 'score': 0.18}, {'connected_gene': 'ENSG00000227678', 'score': 0.1}]
chr6	GH06I130843	130843681	130843830	0.69	[{'connected_gene': 'TMEM200A', 'score': 10.43}, {'connected_gene': 'SAMD3', 'score': 10.43}, {'connected_gene': 'SMLR1', 'score': 0.37}, {'connected_gene': 'EPB41L2', 'score': 0.08}]
chr6	GH06I130575	130575507	130576745	0.93	[{'connected_gene': 'TMEM200A', 'score': 11.38}, {'connected_gene': 'SAMD3', 'score': 11.38}, {'connected_gene': 'ENSG00000202438', 'score': 0.77}, {'connected_gene': 'GC06P130596', 'score': 0.34}]
chr6	GH06I130524	130524437	130525769	0.56	[{'connected_gene': 'TMEM200A', 'score': 10.91}, {'connected_gene': 'SAMD3', 'score': 10.91}, {'connected_gene': 'GC06M130560', 'score': 0.28}, {'connected_gene': 'GC06M130284', 'score': 0.13}]
chr6	GH06I130625	130625816	130626781	0.81	[{'connected_gene': 'TMEM200A', 'score': 10.93}, {'connected_gene': 'SAMD3', 'score': 10.93}, {'connected_gene': 'GC06P130596', 'score': 0.29}, {'connected_gene': 'ENSG00000229923', 'score': 0.19}]
chr6	GH06I130418	130418056	130418205	0.38	[{'connected_gene': 'TMEM200A', 'score': 10.97}, {'connected_gene': 'SAMD3', 'score': 10.97}, {'connected_gene': 'GC06M130284', 'score': 0.39}, {'connected_gene': 'GC06M130560', 'score': 0.11}]
chr6	GH06I130600	130600088	130605571	1.23	[{'connected_gene': 'TMEM200A', 'score': 29.79}, {'connected_gene': 'SAMD3', 'score': 14.86}, {'connected_gene': 'GC06P130596', 'score': 0.44}, {'connected_gene': 'ENSG00000229923', 'score': 0.16}]
chr6	GH06I130255	130255400	130255659	0.22	[{'connected_gene': 'TMEM200A', 'score': 6.35}, {'connected_gene': 'SAMD3', 'score': 0.14}, {'connected_gene': 'ENSG00000227678', 'score': 0.14}]
chr6	GH06I130258	130258963	130262296	0.89	[{'connected_gene': 'TMEM200A', 'score': 9.97}, {'connected_gene': 'SAMD3', 'score': 7.2}, {'connected_gene': 'ENSG00000227678', 'score': 0.14}]
chr6	GH06I130437	130437151	130437210	0.5	[{'connected_gene': 'TMEM200A', 'score': 550.19}, {'connected_gene': 'GC06M130284', 'score': 0.29}, {'connected_gene': 'GC06M130560', 'score': 0.13}]
chr6	GH06I130421	130421053	130421112	0.5	[{'connected_gene': 'TMEM200A', 'score': 550.22}, {'connected_gene': 'GC06M130284', 'score': 0.37}, {'connected_gene': 'GC06M130560', 'score': 0.11}]
chr6	GH06I130381	130381856	130382471	0.49	[{'connected_gene': 'LOC105378159', 'score': 550.77}, {'connected_gene': 'SAMD3', 'score': 6.15}, {'connected_gene': 'TMEM200A', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.34}]
chr6	GH06I130382	130382636	130383791	0.2	[{'connected_gene': 'LOC105378159', 'score': 550.77}, {'connected_gene': 'SAMD3', 'score': 10.23}, {'connected_gene': 'TMEM200A', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.34}]
chr6	GH06I130384	130384720	130385944	0.43	[{'connected_gene': 'LOC105378159', 'score': 0.77}, {'connected_gene': 'TMEM200A', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.37}]
chr6	GH06I130697	130697769	130698263	0.57	[{'connected_gene': 'ENSG00000229923', 'score': 550.77}, {'connected_gene': 'TMEM200A', 'score': 11.94}, {'connected_gene': 'SAMD3', 'score': 11.94}, {'connected_gene': 'LOC105378002', 'score': 0.31}]
chr6	GH06I130434	130434616	130434765	0.31	[{'connected_gene': 'GC06M130284', 'score': 0.31}, {'connected_gene': 'TMEM200A', 'score': 0.2}, {'connected_gene': 'GC06M130560', 'score': 0.13}]
chr6	GH06I130396	130396801	130397200	0.2	[{'connected_gene': 'GC06M130284', 'score': 0.44}, {'connected_gene': 'LOC105378159', 'score': 0.39}, {'connected_gene': 'TMEM200A', 'score': 0.29}]