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
ENST00000473629	[[124492731, 124493129], [124494826, 124494897], [124495566, 124495799], [124496708, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124502330]]	None
ENST00000530731	[[124492756, 124493129], [124494826, 124494897], [124495566, 124495799], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501135, 124501313], [124501988, 124502348]]	[[124492979, 124493129], [124494826, 124494897], [124495566, 124495799], [124496799, 124496828]]
ENST00000531667	[[124492765, 124493129], [124496799, 124496946], [124500283, 124500324]]	[[124492979, 124493129], [124496799, 124496946], [124500283, 124500324]]
ENST00000284290	[[124492770, 124493129], [124494826, 124494897], [124495566, 124495799], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124505287]]	[[124492979, 124493129], [124494826, 124494897], [124495566, 124495799], [124496799, 124496828]]
ENST00000441174	[[124492775, 124493129], [124494826, 124494897], [124495566, 124495799], [124496368, 124496505], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124504698]]	[[124492979, 124493129], [124494826, 124494897], [124495566, 124495799], [124496368, 124496505], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124502134]]
ENST00000375005	[[124492792, 124493129], [124494826, 124494897], [124495566, 124495799], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124502331]]	[[124495661, 124495799], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124502134]]
ENST00000452080	[[124492794, 124493129], [124494826, 124494897], [124495566, 124495799], [124496588, 124496647], [124496799, 124496831]]	[[124492979, 124493129], [124494826, 124494897], [124495566, 124495799], [124496588, 124496605]]
ENST00000529543	[[124492889, 124493129], [124494826, 124494897], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124503320]]	[[124492979, 124493129], [124494826, 124494897], [124496799, 124496884]]
ENST00000438907	[[124495661, 124495799], [124496588, 124496647], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124502134]]	None
ENST00000491010	[[124496694, 124496946], [124500283, 124502339]]	None
ENST00000531033	[[124499817, 124501313], [124501988, 124502301]]	None
NR_016021	[[124492741, 124493129], [124494826, 124494897], [124495566, 124495799], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124505822]]	None
NM_032811	[[124492741, 124493129], [124494826, 124494897], [124495566, 124495799], [124496368, 124496505], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124505822]]	[[124492979, 124493129], [124494826, 124494897], [124495566, 124495799], [124496368, 124496505], [124496799, 124496946], [124500283, 124500381], [124500640, 124500751], [124501170, 124501313], [124501988, 124502134]]

Promoter

Chrom	Start	End	Description
chr11	124492736	124492748	CAGE_peak_2_at_TBRG1_5end
chr11	124492749	124492795	CAGE_peak_1_at_TBRG1_5end
chr11	124492805	124492810	CAGE_peak_3_at_TBRG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I124622	124622063	124624292	2.02	[{'connected_gene': 'TBRG1', 'score': 550.77}, {'connected_gene': 'RNA5SP352', 'score': 0.39}]
chr11	GH11I124625	124625845	124626034	0.43	[{'connected_gene': 'ROBO3', 'score': 9.87}, {'connected_gene': 'TBRG1', 'score': 0.77}, {'connected_gene': 'RNA5SP352', 'score': 0.39}]
chr11	GH11I124177	124177450	124177678	0.27	[{'connected_gene': 'VWA5A', 'score': 34.66}, {'connected_gene': 'TBRG1', 'score': 3.32}, {'connected_gene': 'OR8B12', 'score': 2.65}, {'connected_gene': 'OR10D3', 'score': 0.44}, {'connected_gene': 'OR10D1P', 'score': 0.37}]
chr11	GH11I124191	124191937	124192241	0.43	[{'connected_gene': 'VWA5A', 'score': 42.31}, {'connected_gene': 'OR8A1', 'score': 4.27}, {'connected_gene': 'OR6X1', 'score': 3.16}, {'connected_gene': 'OR10G7', 'score': 3.13}, {'connected_gene': 'OR8G2P', 'score': 3.07}, {'connected_gene': 'OR8B12', 'score': 2.58}, {'connected_gene': 'OR4D5', 'score': 2.43}, {'connected_gene': 'OR10G4', 'score': 2.33}, {'connected_gene': 'OR8G1', 'score': 2.29}, {'connected_gene': 'OR6M1', 'score': 2.28}, {'connected_gene': 'OR6T1', 'score': 1.99}, {'connected_gene': 'OR8B8', 'score': 1.94}, {'connected_gene': 'OR8D4', 'score': 1.49}, {'connected_gene': 'TBRG1', 'score': 1.32}, {'connected_gene': 'OR8D2', 'score': 1.31}, {'connected_gene': 'OR8D1', 'score': 1.24}, {'connected_gene': 'GC11P124186', 'score': 0.44}, {'connected_gene': 'OR8F1P', 'score': 0.37}]
chr11	GH11I124275	124275760	124277042	1.17	[{'connected_gene': 'VWA5A', 'score': 43.2}, {'connected_gene': 'OR8D1', 'score': 7.93}, {'connected_gene': 'OR8G5', 'score': 6.12}, {'connected_gene': 'OR8G2P', 'score': 2.08}, {'connected_gene': 'TBRG1', 'score': 1.88}, {'connected_gene': 'OR8B12', 'score': 1.6}, {'connected_gene': 'SLC5A4P1', 'score': 0.77}]
chr11	GH11I125068	125068300	125076483	1.72	[{'connected_gene': 'SLC37A2', 'score': 22.25}, {'connected_gene': 'CCDC15', 'score': 21.88}, {'connected_gene': 'TMEM218', 'score': 11.12}, {'connected_gene': 'KRT18P59', 'score': 11.11}, {'connected_gene': 'ENSG00000255475', 'score': 10.27}, {'connected_gene': 'ROBO4', 'score': 9.9}, {'connected_gene': 'HEPACAM', 'score': 9.27}, {'connected_gene': 'LOC105369549', 'score': 6.04}, {'connected_gene': 'TBRG1', 'score': 3.07}, {'connected_gene': 'GC11M125054', 'score': 0.44}, {'connected_gene': 'PIR45309', 'score': 0.44}]