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
ENST00000411990	[[207222800, 207222962], [207228045, 207228147], [207235297, 207235423], [207235891, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207252298, 207252479]]	[[207236047, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207252298, 207252364]]
ENST00000367080	[[207226604, 207226711], [207228045, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207245548, 207251168]]	[[207228062, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207245548, 207245716]]
ENST00000464777	[[207226619, 207226711], [207228045, 207228147], [207234190, 207234275], [207235297, 207235423], [207235964, 207236061], [207236491, 207236512]]	None
ENST00000468857	[[207226627, 207226711], [207228045, 207228300]]	None
ENST00000367079	[[207226655, 207226711], [207228045, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207252298, 207254369]]	[[207228062, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207252298, 207252364]]
ENST00000545806	[[207228044, 207228147], [207234166, 207234275], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207245548, 207245750]]	[[207235311, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207245548, 207245716]]
ENST00000541914	[[207238348, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244853, 207244918], [207252298, 207252731]]	[[207238431, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244853, 207244918], [207252298, 207252364]]
ENST00000473310	[[207242768, 207242873], [207244853, 207244918], [207252298, 207253020]]	None
ENST00000483688	[[207243989, 207244109], [207244532, 207244595], [207244853, 207244918], [207248604, 207248910]]	None
NM_006212	[[207226619, 207226711], [207228045, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207245548, 207251162]]	[[207228062, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207245548, 207245716]]
NM_001018053	[[207226619, 207226711], [207228045, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207252298, 207254368]]	[[207228062, 207228147], [207235297, 207235423], [207235964, 207236061], [207236487, 207236554], [207236691, 207236766], [207237117, 207237174], [207238380, 207238505], [207240843, 207241051], [207241507, 207241654], [207242768, 207242873], [207243624, 207243754], [207244532, 207244595], [207244853, 207244918], [207252298, 207252364]]

Promoter

Chrom	Start	End	Description
chr1	207207758	207207776	CAGE_peak_9_at_PFKFB2_5end
chr1	207226371	207226419	CAGE_peak_2_at_PFKFB2_5end
chr1	207226574	207226646	CAGE_peak_1_at_PFKFB2_5end
chr1	207238238	207238251	CAGE_peak_12_at_PFKFB2_5end
chr1	207238254	207238272	CAGE_peak_8_at_PFKFB2_5end
chr1	207238302	207238315	CAGE_peak_5_at_PFKFB2_5end
chr1	207238326	207238354	CAGE_peak_3_at_PFKFB2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I207066	207066279	207068660	0.58	[{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.36}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 8.28}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1	GH01I207064	207064091	207065188	0.4	[{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.37}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 4.93}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1	GH01I207017	207017474	207035862	2.25	[{'connected_gene': 'C1orf116', 'score': 556.44}, {'connected_gene': 'EIF2D', 'score': 34.52}, {'connected_gene': 'C4BPA', 'score': 20.19}, {'connected_gene': 'CDCA4P4', 'score': 19.45}, {'connected_gene': 'C4BPB', 'score': 15.23}, {'connected_gene': 'FCAMR', 'score': 10.87}, {'connected_gene': 'PIGR', 'score': 10.84}, {'connected_gene': 'FCMR', 'score': 10.81}, {'connected_gene': 'RPL7AP20', 'score': 10.19}, {'connected_gene': 'IL20', 'score': 10.08}, {'connected_gene': 'CD46', 'score': 9.92}, {'connected_gene': 'PFKFB2', 'score': 9.31}, {'connected_gene': 'GC01P207018', 'score': 0.44}]
chr1	GH01I207059	207059401	207060200	0.31	[{'connected_gene': 'YOD1', 'score': 0.44}, {'connected_gene': 'PFKFB2', 'score': 0.31}, {'connected_gene': 'C4BPB', 'score': 0.31}]
chr1	GH01I207047	207047601	207047800	0.72	[{'connected_gene': 'YOD1', 'score': 0.44}, {'connected_gene': 'PFKFB2', 'score': 0.39}]
chr1	GH01I207004	207004238	207011369	1.39	[{'connected_gene': 'PIGR', 'score': 11.35}, {'connected_gene': 'FCMR', 'score': 11.32}, {'connected_gene': 'FCAMR', 'score': 11.17}, {'connected_gene': 'IL24', 'score': 10.74}, {'connected_gene': 'IL20', 'score': 10.1}, {'connected_gene': 'PFKFB2', 'score': 9.67}, {'connected_gene': 'MAPKAPK2', 'score': 9.62}, {'connected_gene': 'IL19', 'score': 9.57}, {'connected_gene': 'C4BPB', 'score': 6.21}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.77}, {'connected_gene': 'GC01P207018', 'score': 0.39}]
chr1	GH01I206945	206945940	206946898	1.32	[{'connected_gene': 'PIGR', 'score': 550.77}, {'connected_gene': 'ENSG00000271680', 'score': 9.54}, {'connected_gene': 'PFKFB2', 'score': 4.52}, {'connected_gene': 'GC01M206926', 'score': 0.37}]
chr1	GH01I207070	207070401	207072137	0.4	[{'connected_gene': 'PFKFB2', 'score': 27.06}, {'connected_gene': 'C1orf116', 'score': 10.88}, {'connected_gene': 'FCAMR', 'score': 10.35}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'C4BPA', 'score': 10.23}, {'connected_gene': 'IL20', 'score': 9.83}, {'connected_gene': 'YOD1', 'score': 0.37}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1	GH01I207073	207073318	207074949	0.38	[{'connected_gene': 'PFKFB2', 'score': 27.99}, {'connected_gene': 'YOD1', 'score': 12.78}, {'connected_gene': 'C1orf116', 'score': 10.66}, {'connected_gene': 'C4BPB', 'score': 0.39}]
chr1	GH01I207048	207048086	207057800	2.51	[{'connected_gene': 'PFKFB2', 'score': 559.05}, {'connected_gene': 'YOD1', 'score': 550.77}, {'connected_gene': 'EIF2D', 'score': 22.36}, {'connected_gene': 'CDCA4P4', 'score': 20.35}, {'connected_gene': 'MAPKAPK2', 'score': 14.81}, {'connected_gene': 'C1orf116', 'score': 10.96}, {'connected_gene': 'CR1', 'score': 10.55}, {'connected_gene': 'CD46', 'score': 9.92}]
chr1	GH01I207039	207039658	207041007	0.8	[{'connected_gene': 'PFKFB2', 'score': 0.44}, {'connected_gene': 'YOD1', 'score': 0.39}]
chr1	GH01I207046	207046601	207047200	0.58	[{'connected_gene': 'PFKFB2', 'score': 8.74}, {'connected_gene': 'YOD1', 'score': 0.44}]
chr1	GH01I207036	207036013	207036399	0.46	[{'connected_gene': 'PFKFB2', 'score': 550.77}, {'connected_gene': 'YOD1', 'score': 0.37}]
chr1	GH01I207077	207077800	207078201	1.27	[{'connected_gene': 'PFKFB2', 'score': 25.82}, {'connected_gene': 'CR1', 'score': 10.7}, {'connected_gene': 'C4BPA', 'score': 10.58}, {'connected_gene': 'FCAMR', 'score': 10.38}, {'connected_gene': 'PIGR', 'score': 10.36}, {'connected_gene': 'C4BPB', 'score': 0.39}, {'connected_gene': 'YOD1', 'score': 0.34}]
chr1	GH01I207084	207084296	207085445	1.33	[{'connected_gene': 'CR1', 'score': 11.31}, {'connected_gene': 'PFKFB2', 'score': 10.55}, {'connected_gene': 'C4BPB', 'score': 0.77}, {'connected_gene': 'YOD1', 'score': 0.29}]