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
ENST00000294489 [[13909959, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13944452]] [[13910300, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
ENST00000376057 [[13910256, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13944452]] [[13910300, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13942406]]
ENST00000506205 [[13910326, 13910595], [13922321, 13922479], [13933667, 13933716]] [[13910326, 13910595], [13922321, 13922335]]
ENST00000510906 [[13910327, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13941009]] [[13910327, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940910]]
ENST00000509009 [[13910587, 13910683], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942459]] [[13910631, 13910683], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
ENST00000376061 [[13910761, 13910836], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13943277]] [[13933726, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
ENST00000513143 [[13910764, 13910836], [13922321, 13922479], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13943059]] [[13933726, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
ENST00000487038 [[13911955, 13912134], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942412]] [[13933726, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
ENST00000475043 [[13911966, 13912063], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13942742]] [[13933726, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13942406]]
ENST00000488631 [[13911974, 13912134], [13933667, 13933801], [13940181, 13940220], [13940794, 13940900], [13942399, 13942754]] [[13933726, 13933801], [13940181, 13940220], [13940794, 13940812]]
NM_198389 [[13910251, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13944452]] [[13910300, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13942406]]
NM_006474 [[13910251, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13944452]] [[13910300, 13910595], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
NM_001006625 [[13911966, 13912134], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13944452]] [[13933726, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940900], [13942399, 13942406]]
NM_001006624 [[13911966, 13912134], [13933667, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13944452]] [[13933726, 13933801], [13936881, 13937011], [13940181, 13940220], [13940794, 13940906], [13942399, 13942406]]
Promoter
Chrom Start End Description
chr1 13910194 13910339 CAGE_peak_1_at_PDPN_5end
chr1 13910456 13910461 CAGE_peak_4_at_PDPN_5end
chr1 13910479 13910490 CAGE_peak_2_at_PDPN_5end
chr1 13910757 13910770 CAGE_peak_3_at_PDPN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I013590 13590563 13590818 0.48 [{'connected_gene': 'PDPN', 'score': 2.98}, {'connected_gene': 'PRDM2', 'score': 2.51}, {'connected_gene': 'RNA5SP41', 'score': 0.29}]
chr1 GH01I013910 13910652 13914111 0.31 [{'connected_gene': 'PDPN', 'score': 9.91}, {'connected_gene': 'KAZN', 'score': 0.37}, {'connected_gene': 'GC01P014000', 'score': 0.17}]
chr1 GH01I013916 13916335 13917407 0.31 [{'connected_gene': 'PDPN', 'score': 9.92}, {'connected_gene': 'KAZN', 'score': 0.34}, {'connected_gene': 'GC01P014000', 'score': 0.18}]
chr1 GH01I013900 13900073 13900155 0.2 [{'connected_gene': 'PDPN', 'score': 9.85}, {'connected_gene': 'KAZN', 'score': 0.44}, {'connected_gene': 'GC01P014000', 'score': 0.15}]
chr1 GH01I013917 13917474 13919869 0.31 [{'connected_gene': 'PDPN', 'score': 9.92}, {'connected_gene': 'KAZN', 'score': 0.31}, {'connected_gene': 'GC01P014000', 'score': 0.18}]
chr1 GH01I013901 13901067 13902248 0.38 [{'connected_gene': 'PDPN', 'score': 9.85}, {'connected_gene': 'KAZN', 'score': 0.44}, {'connected_gene': 'GC01P014000', 'score': 0.15}]
chr1 GH01I013604 13604814 13605800 1.21 [{'connected_gene': 'PDPN', 'score': 14.09}, {'connected_gene': 'LRRC38', 'score': 10.32}, {'connected_gene': 'PRDM2', 'score': 2.82}, {'connected_gene': 'RNA5SP41', 'score': 0.37}]
chr1 GH01I013618 13618719 13620905 0.46 [{'connected_gene': 'PDPN', 'score': 24.49}, {'connected_gene': 'LRRC38', 'score': 13.48}, {'connected_gene': 'PRAMEF36P', 'score': 4.64}, {'connected_gene': 'RNA5SP41', 'score': 0.77}]
chr1 GH01I013605 13605961 13606719 0.2 [{'connected_gene': 'PDPN', 'score': 11.95}, {'connected_gene': 'LRRC38', 'score': 10.32}, {'connected_gene': 'RNA5SP41', 'score': 0.37}]
chr1 GH01I013543 13543078 13544411 0.79 [{'connected_gene': 'PDPN', 'score': 4.8}, {'connected_gene': 'BRWD1P1', 'score': 0.39}, {'connected_gene': 'LRRC38', 'score': 0.31}]
chr1 GH01I013592 13592897 13594707 1.21 [{'connected_gene': 'PDPN', 'score': 555.6}, {'connected_gene': 'RNA5SP41', 'score': 0.31}]
chr1 GH01I013596 13596584 13597747 0.2 [{'connected_gene': 'PDPN', 'score': 0.39}, {'connected_gene': 'RNA5SP41', 'score': 0.31}]
chr1 GH01I013617 13617551 13618256 0.4 [{'connected_gene': 'PDPN', 'score': 20.27}, {'connected_gene': 'RNA5SP41', 'score': 0.44}]
chr1 GH01I013599 13599639 13601520 0.66 [{'connected_gene': 'PDPN', 'score': 0.37}, {'connected_gene': 'RNA5SP41', 'score': 0.34}]
chr1 GH01I013583 13583034 13587420 2.23 [{'connected_gene': 'PDPN', 'score': 556.84}, {'connected_gene': 'RNA5SP41', 'score': 0.28}]
chr1 GH01I013623 13623338 13623658 0.22 [{'connected_gene': 'RNA5SP41', 'score': 550.77}, {'connected_gene': 'PDPN', 'score': 3.8}, {'connected_gene': 'PRDM2', 'score': 2.94}, {'connected_gene': 'GC01P013657', 'score': 0.29}]