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
ENST00000248306	[[82752275, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873015]]	[[82752344, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82872803]]
ENST00000547357	[[82752307, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82853654, 82853710]]	None
ENST00000548432	[[82832293, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82872945]]	None
ENST00000548569	[[82752306, 82752603], [82780581, 82780746], [82782580, 82782681]]	None
ENST00000547985	[[82752307, 82752695], [82780581, 82780751]]	None
ENST00000548200	[[82752318, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82792759]]	[[82752344, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82792759]]
ENST00000550058	[[82752672, 82752695], [82763227, 82763339], [82780581, 82780746], [82783594, 82783701], [82792573, 82792734]]	[[82752672, 82752695], [82763227, 82763339], [82780581, 82780746], [82783594, 82783701], [82792573, 82792734]]
ENST00000551722	[[82767805, 82768089], [82780581, 82780746], [82783594, 82783701], [82792573, 82792782]]	None
ENST00000550298	[[82793137, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832866]]	[[82793137, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832619]]
ENST00000552741	[[82868277, 82868362], [82870422, 82870497], [82871059, 82871131], [82872710, 82873015]]	None
ENST00000551645	[[82870077, 82870497], [82871059, 82871131], [82872710, 82872948]]	None
NR_144940	[[82752275, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	None
NM_032230	[[82752275, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	[[82752344, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82872803]]
NR_144941	[[82752275, 82752603], [82780581, 82780746], [82783594, 82783701], [82792573, 82793418], [82796761, 82796909], [82801595, 82801650], [82824671, 82824766], [82828473, 82828503], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	None
NM_001347934	[[82752275, 82752603], [82763165, 82763339], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	[[82763236, 82763339], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82872803]]
NR_144942	[[82752275, 82752695], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	None
NM_001319675	[[82752275, 82752695], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	[[82780583, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82832496, 82832570], [82850505, 82850599], [82870422, 82870497], [82871059, 82871131], [82872710, 82872803]]
NR_144943	[[82752275, 82752695], [82763165, 82763339], [82780581, 82780746], [82783594, 82783701], [82792573, 82793173], [82796761, 82796909], [82824671, 82824766], [82828473, 82828503], [82850505, 82850599], [82868279, 82868362], [82870422, 82870497], [82871059, 82871131], [82872710, 82873018]]	None

Promoter

Chrom	Start	End	Description
chr12	82752275	82752282	CAGE_peak_3_at_C12orf26_5end
chr12	82752283	82752328	CAGE_peak_1_at_C12orf26_5end
chr12	82752647	82752671	CAGE_peak_2_at_C12orf26_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I081381	81381989	81383220	0.75	[{'connected_gene': 'METTL25', 'score': 16.72}, {'connected_gene': 'PPFIA2', 'score': 8.3}, {'connected_gene': 'ENSG00000258162', 'score': 0.77}, {'connected_gene': 'GC12P081435', 'score': 0.23}]
chr12	GH12I082861	82861808	82864714	0.87	[{'connected_gene': 'METTL25', 'score': 13.79}, {'connected_gene': 'CCDC59', 'score': 11.98}, {'connected_gene': 'PIR32311', 'score': 0.28}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12	GH12I082357	82357059	82359827	2.14	[{'connected_gene': 'METTL25', 'score': 604.83}, {'connected_gene': 'CCDC59', 'score': 599.02}, {'connected_gene': 'PIR52845', 'score': 550.77}, {'connected_gene': 'ENSG00000257431', 'score': 10.47}]
chr12	GH12I082407	82407111	82408106	0.38	[{'connected_gene': 'METTL25', 'score': 0.25}, {'connected_gene': 'PIR62975', 'score': 0.25}, {'connected_gene': 'LOC100421061', 'score': 0.21}]
chr12	GH12I082314	82314428	82314800	0.69	[{'connected_gene': 'LOC105369873', 'score': 0.44}, {'connected_gene': 'METTL25', 'score': 0.26}, {'connected_gene': 'CCDC59', 'score': 0.26}]
chr12	GH12I082329	82329457	82330079	0.43	[{'connected_gene': 'ENSG00000257431', 'score': 16.15}, {'connected_gene': 'LOC105369873', 'score': 0.34}, {'connected_gene': 'METTL25', 'score': 0.31}, {'connected_gene': 'CCDC59', 'score': 0.31}]
chr12	GH12I082416	82415002	82415151	0.2	[{'connected_gene': 'PIR62975', 'score': 0.23}, {'connected_gene': 'LOC100421061', 'score': 0.23}, {'connected_gene': 'METTL25', 'score': 0.22}]
chr12	GH12I082415	82415173	82416180	0.2	[{'connected_gene': 'ENSG00000257431', 'score': 9.46}, {'connected_gene': 'PIR62975', 'score': 0.23}, {'connected_gene': 'LOC100421061', 'score': 0.23}, {'connected_gene': 'METTL25', 'score': 0.22}]