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
ENST00000504853 [[110661851, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110681425, 110681536], [110681678, 110681792], [110682672, 110683747]] None
ENST00000394635 [[110661851, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110679091, 110679115], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723207]] [[110662048, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110679091, 110679115], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723127]]
ENST00000394634 [[110661851, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723335]] [[110662048, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723127]]
ENST00000512148 [[110661879, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723141]] [[110662048, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723127]]
ENST00000515512 [[110663031, 110663751], [110667377, 110667448]] None
ENST00000510800 [[110685514, 110685846], [110687709, 110687980], [110723070, 110723134]] [[110685688, 110685846], [110687709, 110687980], [110723070, 110723127]]
NM_001318057 [[110661847, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110679091, 110679115], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723381]] [[110662048, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110679091, 110679115], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723127]]
NM_000204 [[110661847, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723381]] [[110662048, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110678918, 110678939], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723127]]
NM_001331035 [[110661847, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723381]] [[110662048, 110662266], [110663646, 110663751], [110667377, 110667658], [110670373, 110670477], [110670654, 110670758], [110673623, 110673659], [110681425, 110681536], [110681678, 110681792], [110682672, 110682848], [110685692, 110685846], [110687709, 110687980], [110723070, 110723127]]
Promoter
Chrom Start End Description
chr4 110723142 110723181 CAGE_peak_1_at_CFI_5end
chr4 110723194 110723197 CAGE_peak_6_at_CFI_5end
chr4 110723224 110723236 CAGE_peak_4_at_CFI_5end
chr4 110723252 110723291 CAGE_peak_2_at_CFI_5end
chr4 110723298 110723312 CAGE_peak_3_at_CFI_5end
chr4 110723340 110723356 CAGE_peak_5_at_CFI_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I109713 109713066 109714911 0.31 [{'connected_gene': 'CASP6', 'score': 550.77}, {'connected_gene': 'GC04M109713', 'score': 550.77}, {'connected_gene': 'CFI', 'score': 11.64}, {'connected_gene': 'PLA2G12A', 'score': 0.37}]
chr4 GH04I109734 109734887 109737633 1.07 [{'connected_gene': 'PLA2G12A', 'score': 18.82}, {'connected_gene': 'CFI', 'score': 11.09}, {'connected_gene': 'GAR1', 'score': 9.84}]
chr4 GH04I109727 109727647 109731859 2.18 [{'connected_gene': 'PLA2G12A', 'score': 572.42}, {'connected_gene': 'SEC24B-AS1', 'score': 12.96}, {'connected_gene': 'CFI', 'score': 10.66}, {'connected_gene': 'GAR1', 'score': 10.19}, {'connected_gene': 'CASP6', 'score': 4.48}]
chr4 GH04I109548 109548081 109549518 0.93 [{'connected_gene': 'CFI', 'score': 10.51}, {'connected_gene': 'MCUB', 'score': 7.78}, {'connected_gene': 'RBMXP4', 'score': 7.17}, {'connected_gene': 'SEC24B', 'score': 1.45}, {'connected_gene': 'SETP20', 'score': 0.44}, {'connected_gene': 'MIR576', 'score': 0.21}]
chr4 GH04I109801 109801062 109803123 1.3 [{'connected_gene': 'CFI', 'score': 550.77}, {'connected_gene': 'LRIT3', 'score': 5.18}, {'connected_gene': 'GAR1', 'score': 5.1}, {'connected_gene': 'PLA2G12A', 'score': 0.19}]
chr4 GH04I109419 109419120 109420418 0.59 [{'connected_gene': 'CFI', 'score': 10.71}, {'connected_gene': 'RBMXP4', 'score': 4.48}, {'connected_gene': 'SEC24B-AS1', 'score': 0.39}, {'connected_gene': 'SEC24B', 'score': 0.39}, {'connected_gene': 'PIR37678', 'score': 0.34}]
chr4 GH04I109432 109432175 109435929 2 [{'connected_gene': 'SEC24B', 'score': 555.14}, {'connected_gene': 'SEC24B-AS1', 'score': 550.77}, {'connected_gene': 'RBMXP4', 'score': 11.71}, {'connected_gene': 'CFI', 'score': 10.57}, {'connected_gene': 'RN7SL55P', 'score': 0.37}]