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
ENST00000403295	[[58386377, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468458]]	[[58386899, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468448]]
ENST00000402135	[[58386381, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425713, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468485]]	[[58386899, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425713, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468448]]
ENST00000233741	[[58386381, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468485]]	[[58386899, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468448]]
ENST00000403676	[[58386889, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58468352, 58468437]]	[[58386899, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58468352, 58468375]]
ENST00000449070	[[58387252, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58468352, 58468507]]	[[58387252, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58468352, 58468448]]
ENST00000446381	[[58388757, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58468352, 58468460]]	[[58388757, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58468352, 58468448]]
ENST00000427708	[[58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58421363, 58421408], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468446]]	[[58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58421363, 58421408], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468446]]
ENST00000540646	[[58390313, 58390652], [58392858, 58393009], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468490]]	[[58392999, 58393009], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468448]]
ENST00000417361	[[58390570, 58390652], [58392858, 58393009], [58425713, 58425797], [58431264, 58431361], [58468352, 58468483]]	[[58390570, 58390652], [58392858, 58393009], [58425713, 58425797], [58431264, 58431361], [58468352, 58468375]]
ENST00000470506	[[58389999, 58390652], [58392858, 58392938]]	None
ENST00000481670	[[58440633, 58440841], [58449076, 58449177], [58453862, 58453919], [58456948, 58456950]]	None
NM_001114636	[[58386377, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425713, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468515]]	[[58386899, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425713, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468448]]
NM_018062	[[58386377, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468515]]	[[58386899, 58386935], [58387242, 58387314], [58388656, 58388773], [58390000, 58390082], [58390163, 58390209], [58390568, 58390652], [58392858, 58393009], [58425728, 58425797], [58431264, 58431361], [58449076, 58449177], [58453862, 58453919], [58456948, 58457009], [58459188, 58459247], [58468352, 58468448]]

Promoter

Chrom	Start	End	Description
chr2	58468447	58468517	CAGE_peak_1_at_FANCL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I058107	58107137	58109970	1.24	[{'connected_gene': 'VRK2', 'score': 23.17}, {'connected_gene': 'FANCL', 'score': 9.75}, {'connected_gene': 'GC02P058072', 'score': 0.28}, {'connected_gene': 'ENSG00000273063', 'score': 0.12}]
chr2	GH02I058203	58203825	58204601	0.86	[{'connected_gene': 'VRK2', 'score': 13.91}, {'connected_gene': 'FANCL', 'score': 11.64}, {'connected_gene': 'ENSG00000273063', 'score': 0.28}, {'connected_gene': 'GC02P058072', 'score': 0.12}]
chr2	GH02I058237	58237801	58238600	0.74	[{'connected_gene': 'VRK2', 'score': 4.1}, {'connected_gene': 'ENSG00000273063', 'score': 0.77}, {'connected_gene': 'FANCL', 'score': 0.77}, {'connected_gene': 'GC02P058072', 'score': 0.1}]
chr2	GH02I058044	58044465	58048980	2.08	[{'connected_gene': 'VRK2', 'score': 565.64}, {'connected_gene': 'LOC105374726', 'score': 550.77}, {'connected_gene': 'FANCL', 'score': 10.57}, {'connected_gene': 'EIF3FP3', 'score': 10.42}, {'connected_gene': 'GC02M057920', 'score': 0.14}]
chr2	GH02I058447	58447704	58448795	0.98	[{'connected_gene': 'FANCL', 'score': 10.72}, {'connected_gene': 'VRK2', 'score': 10.57}, {'connected_gene': 'GC02P058461', 'score': 0.39}, {'connected_gene': 'LINC01122', 'score': 0.34}]
chr2	GH02I058449	58449600	58450431	0.86	[{'connected_gene': 'FANCL', 'score': 10.72}, {'connected_gene': 'VRK2', 'score': 10.57}, {'connected_gene': 'GC02P058461', 'score': 0.39}, {'connected_gene': 'LINC01122', 'score': 0.34}]
chr2	GH02I058206	58206835	58208144	0.38	[{'connected_gene': 'FANCL', 'score': 11.66}, {'connected_gene': 'VRK2', 'score': 9.86}, {'connected_gene': 'ENSG00000273063', 'score': 0.29}, {'connected_gene': 'GC02P058072', 'score': 0.12}]
chr2	GH02I058240	58240173	58242011	2.05	[{'connected_gene': 'FANCL', 'score': 560.74}, {'connected_gene': 'ENSG00000273063', 'score': 550.77}, {'connected_gene': 'EIF3FP3', 'score': 10.74}, {'connected_gene': 'VRK2', 'score': 4.05}, {'connected_gene': 'GC02P058072', 'score': 0.1}]
chr2	GH02I057759	57759426	57760697	1.47	[{'connected_gene': 'FANCL', 'score': 10.22}, {'connected_gene': 'EIF3FP3', 'score': 10.11}, {'connected_gene': 'ACTG1P22', 'score': 0.77}, {'connected_gene': 'LOC105377628', 'score': 0.31}, {'connected_gene': 'LOC105377632', 'score': 0.13}]
chr2	GH02I058038	58038456	58039777	1.02	[{'connected_gene': 'FANCL', 'score': 10.57}, {'connected_gene': 'LOC105374726', 'score': 0.44}, {'connected_gene': 'GC02M057920', 'score': 0.14}, {'connected_gene': 'VRK2', 'score': 0.12}]
chr2	GH02I058041	58041651	58043336	1.11	[{'connected_gene': 'FANCL', 'score': 20.53}, {'connected_gene': 'LOC105374726', 'score': 0.77}, {'connected_gene': 'GC02M057920', 'score': 0.14}, {'connected_gene': 'VRK2', 'score': 0.12}]
chr2	GH02I058194	58194594	58194922	0.58	[{'connected_gene': 'FANCL', 'score': 11.43}, {'connected_gene': 'ENSG00000273063', 'score': 0.25}, {'connected_gene': 'GC02P058072', 'score': 0.13}]
chr2	GH02I058427	58427354	58429835	1.2	[{'connected_gene': 'LINC01122', 'score': 550.77}, {'connected_gene': 'FANCL', 'score': 10.53}, {'connected_gene': 'GC02P058461', 'score': 0.29}]
chr2	GH02I058539	58539496	58542262	1.09	[{'connected_gene': 'GC02P058539', 'score': 550.77}, {'connected_gene': 'FANCL', 'score': 10.03}, {'connected_gene': 'GC02P058569', 'score': 0.31}, {'connected_gene': 'LINC01122', 'score': 0.14}]