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
ENST00000206765 [[24718319, 24718747], [24723357, 24723494], [24723869, 24724030], [24724177, 24724459], [24724569, 24724723], [24725194, 24725283], [24727490, 24727594], [24727740, 24727879], [24728280, 24728455], [24728909, 24729017], [24729145, 24729264], [24729655, 24729904], [24730900, 24731089], [24731239, 24731560], [24732294, 24732416]] [[24718518, 24718747], [24723357, 24723494], [24723869, 24724030], [24724177, 24724459], [24724569, 24724723], [24725194, 24725283], [24727490, 24727594], [24727740, 24727879], [24728280, 24728455], [24728909, 24729017], [24729145, 24729264], [24729655, 24729904], [24730900, 24731089], [24731239, 24731558]]
ENST00000544573 [[24718413, 24718747], [24723357, 24723494], [24723869, 24724030], [24724177, 24724459], [24724569, 24724723], [24725194, 24725283], [24727490, 24727594], [24731332, 24731560], [24732294, 24732386]] [[24718518, 24718747], [24723357, 24723494], [24723869, 24724030], [24724177, 24724459], [24724569, 24724723], [24725194, 24725283], [24727490, 24727566]]
ENST00000559669 [[24723328, 24723494], [24723869, 24724030], [24724177, 24724262]] [[24723353, 24723494], [24723869, 24724030], [24724177, 24724262]]
ENST00000559136 [[24724659, 24724723], [24725194, 24725283], [24727490, 24727594], [24727740, 24727879], [24728280, 24728455], [24728909, 24729017], [24729145, 24729364]] [[24724659, 24724723], [24725194, 24725283], [24727490, 24727594], [24727740, 24727879], [24728280, 24728455], [24728909, 24728966]]
ENST00000558074 [[24731003, 24731089], [24731239, 24731560], [24732294, 24732409], [24732711, 24732744]] [[24731003, 24731089], [24731239, 24731558]]
ENST00000560443 [[24731364, 24731560], [24733139, 24733470]] [[24731364, 24731558]]
ENST00000560478 [[24731407, 24731560], [24732294, 24732398], [24733139, 24733444]] [[24731407, 24731558]]
ENST00000560226 [[24731432, 24731560], [24732294, 24732746]] [[24731432, 24731558]]
ENST00000561067 [[24731530, 24731560], [24733199, 24733638]] [[24731530, 24731558]]
NM_000359 [[24718319, 24718747], [24723357, 24723494], [24723869, 24724030], [24724177, 24724459], [24724569, 24724723], [24725194, 24725283], [24727490, 24727594], [24727740, 24727879], [24728280, 24728455], [24728909, 24729017], [24729145, 24729264], [24729655, 24729904], [24730900, 24731089], [24731239, 24731560], [24732294, 24732416]] [[24718518, 24718747], [24723357, 24723494], [24723869, 24724030], [24724177, 24724459], [24724569, 24724723], [24725194, 24725283], [24727490, 24727594], [24727740, 24727879], [24728280, 24728455], [24728909, 24729017], [24729145, 24729264], [24729655, 24729904], [24730900, 24731089], [24731239, 24731558]]
Promoter
Chrom Start End Description
chr14 24729174 24729183 CAGE_peak_17_at_TGM1_5end
chr14 24729194 24729195 CAGE_peak_32_at_TGM1_5end
chr14 24729251 24729267 CAGE_peak_9_at_TGM1_5end
chr14 24732368 24732391 CAGE_peak_1_at_TGM1_5end
chr14 24732403 24732410 CAGE_peak_4_at_TGM1_5end
chr14 24732738 24732753 CAGE_peak_3_at_TGM1_5end
chr14 24732759 24732782 CAGE_peak_5_at_TGM1_5end
chr14 24732838 24732850 CAGE_peak_8_at_TGM1_5end
chr14 24733447 24733461 CAGE_peak_6_at_TGM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024256 24256155 24256304 0.86 [{'connected_gene': 'TGM1', 'score': 0.44}, {'connected_gene': 'TINF2', 'score': 0.39}]
chr14 GH14I024262 24262409 24265249 1.32 [{'connected_gene': 'TGM1', 'score': 561.03}, {'connected_gene': 'DHRS1', 'score': 10.28}, {'connected_gene': 'RABGGTA', 'score': 5.06}, {'connected_gene': 'TINF2', 'score': 0.34}]
chr14 GH14I024371 24371872 24373384 0.59 [{'connected_gene': 'NYNRIN', 'score': 12.79}, {'connected_gene': 'CBLN3', 'score': 11.95}, {'connected_gene': 'KHNYN', 'score': 11.93}, {'connected_gene': 'ADCY4', 'score': 10.89}, {'connected_gene': 'TGM1', 'score': 10.15}, {'connected_gene': 'NFATC4', 'score': 0.44}]
chr14 GH14I024306 24306328 24308843 1.46 [{'connected_gene': 'LTB4R2', 'score': 550.77}, {'connected_gene': 'CIDEB', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 20.94}, {'connected_gene': 'LTB4R', 'score': 20.69}, {'connected_gene': 'TGM1', 'score': 6.29}, {'connected_gene': 'NOP9', 'score': 0.44}]
chr14 GH14I024230 24230854 24235093 2.07 [{'connected_gene': 'GMPR2', 'score': 550.77}, {'connected_gene': 'NEDD8-MDP1', 'score': 550.77}, {'connected_gene': 'NEDD8', 'score': 550.77}, {'connected_gene': 'TM9SF1', 'score': 18.96}, {'connected_gene': 'RNA5SP383', 'score': 15.93}, {'connected_gene': 'KHNYN', 'score': 15.67}, {'connected_gene': 'LOC102724814', 'score': 12.69}, {'connected_gene': 'TINF2', 'score': 12.61}, {'connected_gene': 'RNF31', 'score': 12.61}, {'connected_gene': 'MDP1', 'score': 10.1}, {'connected_gene': 'CIDEB', 'score': 9.89}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'TGM1', 'score': 9.83}, {'connected_gene': 'DHRS4-AS1', 'score': 5.57}]
chr14 GH14I024364 24364968 24371044 2.27 [{'connected_gene': 'NFATC4', 'score': 550.77}, {'connected_gene': 'ADCY4', 'score': 20.94}, {'connected_gene': 'SDR39U1', 'score': 16.94}, {'connected_gene': 'RIPK3', 'score': 14.77}, {'connected_gene': 'NYNRIN', 'score': 12.77}, {'connected_gene': 'JPH4', 'score': 12.71}, {'connected_gene': 'CBLN3', 'score': 11.94}, {'connected_gene': 'KHNYN', 'score': 11.92}, {'connected_gene': 'TGM1', 'score': 10.16}, {'connected_gene': 'LTB4R', 'score': 9.68}, {'connected_gene': 'DHRS1', 'score': 8.94}]
chr14 GH14I024240 24240327 24244153 2.5 [{'connected_gene': 'TINF2', 'score': 567.06}, {'connected_gene': 'KHNYN', 'score': 25.59}, {'connected_gene': 'RNA5SP383', 'score': 24.32}, {'connected_gene': 'LOC102724814', 'score': 18.69}, {'connected_gene': 'NGDN', 'score': 15.08}, {'connected_gene': 'NYNRIN', 'score': 12.14}, {'connected_gene': 'RNF31', 'score': 12.06}, {'connected_gene': 'SDR39U1', 'score': 11.17}, {'connected_gene': 'ENSG00000259321', 'score': 10.22}, {'connected_gene': 'TGM1', 'score': 10.0}, {'connected_gene': 'IRF9', 'score': 6.98}, {'connected_gene': 'PSME1', 'score': 2.87}, {'connected_gene': 'RIPK3', 'score': 2.19}, {'connected_gene': 'DHRS4L1', 'score': 1.81}, {'connected_gene': 'DCAF11', 'score': 1.79}, {'connected_gene': 'CIDEB', 'score': 1.37}, {'connected_gene': 'LTB4R', 'score': 1.33}, {'connected_gene': 'NEDD8', 'score': 0.44}]
chr14 GH14I024224 24224135 24225867 0.63 [{'connected_gene': 'NOP9', 'score': 11.34}, {'connected_gene': 'DHRS1', 'score': 11.34}, {'connected_gene': 'TGM1', 'score': 10.82}, {'connected_gene': 'REC8', 'score': 10.51}, {'connected_gene': 'MDP1', 'score': 10.14}, {'connected_gene': 'TM9SF1', 'score': 5.88}, {'connected_gene': 'NEDD8', 'score': 0.44}, {'connected_gene': 'NEDD8-MDP1', 'score': 0.44}]
chr14 GH14I024246 24246418 24248071 1.06 [{'connected_gene': 'CHMP4A', 'score': 16.3}, {'connected_gene': 'RABGGTA', 'score': 12.12}, {'connected_gene': 'NOP9', 'score': 11.73}, {'connected_gene': 'DHRS1', 'score': 11.73}, {'connected_gene': 'ENSG00000254692', 'score': 11.26}, {'connected_gene': 'MDP1', 'score': 11.26}, {'connected_gene': 'TM9SF1', 'score': 11.2}, {'connected_gene': 'IPO4', 'score': 10.43}, {'connected_gene': 'ADCY4', 'score': 10.0}, {'connected_gene': 'TSSK4', 'score': 9.82}, {'connected_gene': 'RNF31', 'score': 5.64}, {'connected_gene': 'TINF2', 'score': 0.77}, {'connected_gene': 'TGM1', 'score': 0.37}]
chr14 GH14I024309 24309415 24318044 2.22 [{'connected_gene': 'LTB4R', 'score': 572.59}, {'connected_gene': 'CIDEB', 'score': 563.63}, {'connected_gene': 'LTB4R2', 'score': 550.44}, {'connected_gene': 'KHNYN', 'score': 40.62}, {'connected_gene': 'NGDN', 'score': 28.41}, {'connected_gene': 'NYNRIN', 'score': 24.91}, {'connected_gene': 'RNA5SP383', 'score': 15.89}, {'connected_gene': 'NFATC4', 'score': 14.57}, {'connected_gene': 'TM9SF1', 'score': 14.46}, {'connected_gene': 'SDR39U1', 'score': 14.42}, {'connected_gene': 'RNF31', 'score': 14.1}, {'connected_gene': 'DHRS1', 'score': 13.53}, {'connected_gene': 'TINF2', 'score': 13.34}, {'connected_gene': 'LOC102724814', 'score': 12.95}, {'connected_gene': 'PABPN1', 'score': 11.52}, {'connected_gene': 'NEDD8-MDP1', 'score': 10.9}, {'connected_gene': 'NEDD8', 'score': 10.9}, {'connected_gene': 'CBLN3', 'score': 10.84}, {'connected_gene': 'ENSG00000259321', 'score': 10.15}, {'connected_gene': 'TGM1', 'score': 6.32}, {'connected_gene': 'GC14M024319', 'score': 0.44}]
chr14 GH14I024258 24258938 24260569 0.66 [{'connected_gene': 'DHRS1', 'score': 12.39}, {'connected_gene': 'TGM1', 'score': 12.28}, {'connected_gene': 'TINF2', 'score': 0.37}]
chr14 GH14I024251 24251494 24252622 1.03 [{'connected_gene': 'DHRS1', 'score': 6.08}, {'connected_gene': 'TINF2', 'score': 0.44}, {'connected_gene': 'TGM1', 'score': 0.39}]
chr14 GH14I024295 24295989 24298364 1.16 [{'connected_gene': 'DHRS1', 'score': 14.44}, {'connected_gene': 'ENSG00000259321', 'score': 10.83}, {'connected_gene': 'RNA5SP383', 'score': 10.06}, {'connected_gene': 'TGM1', 'score': 6.31}, {'connected_gene': 'PIR40275', 'score': 0.37}, {'connected_gene': 'LOC102725044', 'score': 0.31}]
chr14 GH14I024194 24194150 24197603 2.09 [{'connected_gene': 'TM9SF1', 'score': 566.24}, {'connected_gene': 'PIR45873', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.57}, {'connected_gene': 'TINF2', 'score': 25.35}, {'connected_gene': 'MDP1', 'score': 22.41}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'PSME2', 'score': 20.64}, {'connected_gene': 'KHNYN', 'score': 17.19}, {'connected_gene': 'RNA5SP383', 'score': 14.59}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'LOC102724814', 'score': 12.4}, {'connected_gene': 'CIDEB', 'score': 12.29}, {'connected_gene': 'SDR39U1', 'score': 11.85}, {'connected_gene': 'REC8', 'score': 11.71}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.47}, {'connected_gene': 'NEDD8', 'score': 11.47}, {'connected_gene': 'PABPN1', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.57}, {'connected_gene': 'ENSG00000259321', 'score': 10.47}, {'connected_gene': 'TGM1', 'score': 10.3}, {'connected_gene': 'NFATC4', 'score': 10.14}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 5.62}, {'connected_gene': 'DHRS4', 'score': 4.29}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.37}]
chr14 GH14I024198 24198483 24199537 0.54 [{'connected_gene': 'ENSG00000276698', 'score': 550.77}, {'connected_gene': 'TGM1', 'score': 10.19}, {'connected_gene': 'CHMP4A', 'score': 6.83}, {'connected_gene': 'TSSK4', 'score': 6.18}, {'connected_gene': 'DHRS4-AS1', 'score': 4.74}, {'connected_gene': 'NFATC4', 'score': 4.47}, {'connected_gene': 'ENSG00000278784', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.39}]