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
ENST00000216254 [[41865128, 41865186], [41895729, 41895866], [41903794, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41911921], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41918833, 41918991], [41919208, 41919282], [41919833, 41919945], [41920849, 41920972], [41921196, 41921352], [41922265, 41922457], [41923291, 41923424], [41923904, 41924026], [41924482, 41924993]] [[41865150, 41865186], [41895729, 41895866], [41903794, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41911921], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41918833, 41918991], [41919208, 41919282], [41919833, 41919945], [41920849, 41920972], [41921196, 41921352], [41922265, 41922457], [41923291, 41923424], [41923904, 41924026], [41924482, 41924617]]
ENST00000396512 [[41865133, 41865186], [41895729, 41895866], [41903794, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41911996], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41918833, 41918991], [41919208, 41919282], [41919833, 41919945], [41920849, 41920972], [41921196, 41921352], [41922265, 41922457], [41923291, 41923424], [41923904, 41924026], [41924482, 41924993]] [[41865150, 41865186], [41895729, 41895866], [41903794, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41911996], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41918833, 41918991], [41919208, 41919282], [41919833, 41919945], [41920849, 41920972], [41921196, 41921352], [41922265, 41922457], [41923291, 41923424], [41923904, 41924026], [41924482, 41924617]]
ENST00000471094 [[41865163, 41865512], [41903794, 41904053], [41907879, 41907970]] None
ENST00000482208 [[41903841, 41904053], [41907879, 41908291]] None
ENST00000478010 [[41904018, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41912127]] None
ENST00000481310 [[41911516, 41911539], [41911770, 41911921], [41913300, 41913456]] None
ENST00000466237 [[41911769, 41911921], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41917302, 41917594]] None
NM_001098 [[41865128, 41865186], [41895729, 41895866], [41903794, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41911921], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41918833, 41918991], [41919208, 41919282], [41919833, 41919945], [41920849, 41920972], [41921196, 41921352], [41922265, 41922457], [41923291, 41923424], [41923904, 41924026], [41924482, 41924993]] [[41865150, 41865186], [41895729, 41895866], [41903794, 41904053], [41907879, 41907972], [41911380, 41911539], [41911770, 41911921], [41913530, 41913635], [41914484, 41914576], [41916174, 41916280], [41918833, 41918991], [41919208, 41919282], [41919833, 41919945], [41920849, 41920972], [41921196, 41921352], [41922265, 41922457], [41923291, 41923424], [41923904, 41924026], [41924482, 41924617]]
Promoter
Chrom Start End Description
chr22 41865109 41865152 CAGE_peak_1_at_ACO2_5end
chr22 41865258 41865306 CAGE_peak_2_at_ACO2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I041467 41467323 41474336 2.48 [{'connected_gene': 'PHF5A', 'score': 563.52}, {'connected_gene': 'ACO2', 'score': 550.77}, {'connected_gene': 'POLR3H', 'score': 16.79}, {'connected_gene': 'MEI1', 'score': 14.5}, {'connected_gene': 'TOB2', 'score': 12.26}, {'connected_gene': 'EP300', 'score': 11.32}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'CSDC2', 'score': 10.44}, {'connected_gene': 'L3MBTL2', 'score': 10.34}, {'connected_gene': 'FAM109B', 'score': 9.96}, {'connected_gene': 'ENSG00000232754', 'score': 9.94}, {'connected_gene': 'SMDT1', 'score': 4.36}, {'connected_gene': 'GC22M042674', 'score': 0.34}]
chr22 GH22I041502 41502113 41502718 0.2 [{'connected_gene': 'ACO2', 'score': 12.15}, {'connected_gene': 'PHF5A', 'score': 12.15}, {'connected_gene': 'PIR44656', 'score': 0.77}, {'connected_gene': 'PIR38077', 'score': 0.44}]
chr22 GH22I041393 41393777 41395089 0.63 [{'connected_gene': 'CSDC2', 'score': 23.96}, {'connected_gene': 'TEF', 'score': 12.41}, {'connected_gene': 'POLR3H', 'score': 11.99}, {'connected_gene': 'ACO2', 'score': 11.31}, {'connected_gene': 'PHF5A', 'score': 11.31}, {'connected_gene': 'PIR38134', 'score': 0.77}, {'connected_gene': 'LOC105373042', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.29}]
chr22 GH22I041483 41483743 41489745 0.97 [{'connected_gene': 'CSDC2', 'score': 10.83}, {'connected_gene': 'DESI1', 'score': 9.13}, {'connected_gene': 'PMM1', 'score': 8.54}, {'connected_gene': 'TOB2', 'score': 4.09}, {'connected_gene': 'GC22M042674', 'score': 0.44}, {'connected_gene': 'ACO2', 'score': 0.37}]
chr22 GH22I041503 41503669 41505070 0.69 [{'connected_gene': 'CSDC2', 'score': 11.37}, {'connected_gene': 'MEI1', 'score': 9.78}, {'connected_gene': 'RBX1', 'score': 4.81}, {'connected_gene': 'PIR38077', 'score': 0.77}, {'connected_gene': 'PIR44656', 'score': 0.77}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041474 41474663 41477128 0.99 [{'connected_gene': 'EP300', 'score': 67.79}, {'connected_gene': 'PHF5A', 'score': 44.26}, {'connected_gene': 'ENSG00000232754', 'score': 34.64}, {'connected_gene': 'XRCC6', 'score': 28.74}, {'connected_gene': 'L3MBTL2', 'score': 22.69}, {'connected_gene': 'EP300-AS1', 'score': 22.16}, {'connected_gene': 'POLR3H', 'score': 22.04}, {'connected_gene': 'LOC100506544', 'score': 21.05}, {'connected_gene': 'ZC3H7B', 'score': 20.75}, {'connected_gene': 'SNU13', 'score': 19.42}, {'connected_gene': 'SLC25A17', 'score': 14.23}, {'connected_gene': 'TEF', 'score': 13.27}, {'connected_gene': 'NAGA', 'score': 11.61}, {'connected_gene': 'DNAJB7', 'score': 10.76}, {'connected_gene': 'XPNPEP3', 'score': 10.57}, {'connected_gene': 'RPL4P6', 'score': 10.54}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.45}, {'connected_gene': 'C22orf46', 'score': 10.25}, {'connected_gene': 'MKL1', 'score': 10.23}, {'connected_gene': 'LOC100313968', 'score': 9.87}, {'connected_gene': 'CSDC2', 'score': 4.59}, {'connected_gene': 'ACO2', 'score': 0.44}, {'connected_gene': 'GC22M042674', 'score': 0.37}]
chr22 GH22I041477 41477465 41483638 1.22 [{'connected_gene': 'POLR3H', 'score': 22.86}, {'connected_gene': 'ENSG00000227370', 'score': 7.48}, {'connected_gene': 'SMDT1', 'score': 4.65}, {'connected_gene': 'MEI1', 'score': 4.15}, {'connected_gene': 'ZC3H7B', 'score': 3.91}, {'connected_gene': 'ACO2', 'score': 0.39}, {'connected_gene': 'GC22M042674', 'score': 0.39}]
chr22 GH22I041519 41519622 41520670 0.2 [{'connected_gene': 'POLR3H', 'score': 22.43}, {'connected_gene': 'PIR57348', 'score': 0.44}, {'connected_gene': 'PIR38077', 'score': 0.39}, {'connected_gene': 'ACO2', 'score': 0.23}, {'connected_gene': 'GC22M042641', 'score': 0.23}]
chr22 GH22I041516 41516025 41516801 0.2 [{'connected_gene': 'POLR3H', 'score': 24.63}, {'connected_gene': 'PIR38077', 'score': 0.44}, {'connected_gene': 'PIR57348', 'score': 0.44}, {'connected_gene': 'ACO2', 'score': 0.25}]
chr22 GH22I041512 41510053 41510733 0.2 [{'connected_gene': 'POLR3H', 'score': 21.17}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR38077', 'score': 0.77}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.26}]
chr22 GH22I041511 41511557 41514204 1.3 [{'connected_gene': 'POLR3H', 'score': 24.56}, {'connected_gene': 'EP300', 'score': 16.56}, {'connected_gene': 'PHF5A', 'score': 12.93}, {'connected_gene': 'ENSG00000232754', 'score': 11.33}, {'connected_gene': 'XRCC6', 'score': 11.18}, {'connected_gene': 'RNU6-375P', 'score': 9.37}, {'connected_gene': 'PIR38077', 'score': 0.44}, {'connected_gene': 'PIR57348', 'score': 0.39}, {'connected_gene': 'ACO2', 'score': 0.26}]
chr22 GH22I041517 41517082 41518339 0.86 [{'connected_gene': 'POLR3H', 'score': 18.71}, {'connected_gene': 'MEI1', 'score': 14.74}, {'connected_gene': 'DESI1', 'score': 10.13}, {'connected_gene': 'PIR38077', 'score': 0.44}, {'connected_gene': 'PIR57348', 'score': 0.44}, {'connected_gene': 'ACO2', 'score': 0.25}, {'connected_gene': 'GC22M042641', 'score': 0.23}]
chr22 GH22I041492 41492663 41497212 0.43 [{'connected_gene': 'POLR3H', 'score': 22.42}, {'connected_gene': 'MEI1', 'score': 19.27}, {'connected_gene': 'CSDC2', 'score': 10.84}, {'connected_gene': 'ENSG00000227370', 'score': 5.41}, {'connected_gene': 'PIR44656', 'score': 0.77}, {'connected_gene': 'GC22M042674', 'score': 0.77}, {'connected_gene': 'ACO2', 'score': 0.31}]
chr22 GH22I041422 41422127 41423885 0.38 [{'connected_gene': 'MEI1', 'score': 20.49}, {'connected_gene': 'POLR3H', 'score': 16.09}, {'connected_gene': 'ACO2', 'score': 4.42}, {'connected_gene': 'CSDC2', 'score': 4.19}, {'connected_gene': 'GC22P041413', 'score': 0.44}, {'connected_gene': 'ENSG00000273424', 'score': 0.44}, {'connected_gene': 'GC22P041361', 'score': 0.21}]
chr22 GH22I041444 41443745 41449686 2.66 [{'connected_gene': 'TOB2', 'score': 553.61}, {'connected_gene': 'LOC105373043', 'score': 550.77}, {'connected_gene': 'L3MBTL2', 'score': 74.71}, {'connected_gene': 'ZC3H7B', 'score': 47.48}, {'connected_gene': 'PHF5A', 'score': 45.99}, {'connected_gene': 'EP300', 'score': 43.48}, {'connected_gene': 'SLC25A17', 'score': 32.01}, {'connected_gene': 'POLR3H', 'score': 27.17}, {'connected_gene': 'NDUFA6-AS1', 'score': 23.6}, {'connected_gene': 'XRCC6', 'score': 21.59}, {'connected_gene': 'MEI1', 'score': 20.39}, {'connected_gene': 'TEF', 'score': 20.26}, {'connected_gene': 'ACO2', 'score': 12.68}, {'connected_gene': 'CYP2D8P', 'score': 11.52}, {'connected_gene': 'TCF20', 'score': 11.23}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'SMDT1', 'score': 10.31}, {'connected_gene': 'ENSG00000232754', 'score': 9.94}, {'connected_gene': 'SNU13', 'score': 9.87}, {'connected_gene': 'ENSG00000273366', 'score': 9.7}, {'connected_gene': 'CSDC2', 'score': 4.33}, {'connected_gene': 'SHISA8', 'score': 3.37}, {'connected_gene': 'GC22P041443', 'score': 0.44}]
chr22 GH22I041395 41395219 41395882 0.2 [{'connected_gene': 'PIR38134', 'score': 550.77}, {'connected_gene': 'PIR58640', 'score': 550.77}, {'connected_gene': 'TEF', 'score': 12.41}, {'connected_gene': 'ACO2', 'score': 11.31}, {'connected_gene': 'PHF5A', 'score': 11.31}, {'connected_gene': 'CSDC2', 'score': 10.96}, {'connected_gene': 'CCDC134', 'score': 10.16}, {'connected_gene': 'LOC105373042', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.29}]
chr22 GH22I041397 41397337 41397526 1.06 [{'connected_gene': 'PIR38134', 'score': 550.77}, {'connected_gene': 'PIR55540', 'score': 550.77}, {'connected_gene': 'PIR58640', 'score': 550.77}, {'connected_gene': 'PIR50015', 'score': 550.77}, {'connected_gene': 'TEF', 'score': 12.4}, {'connected_gene': 'ACO2', 'score': 11.31}, {'connected_gene': 'PHF5A', 'score': 11.31}, {'connected_gene': 'CSDC2', 'score': 10.96}, {'connected_gene': 'GC22P041361', 'score': 0.28}]
chr22 GH22I041497 41497342 41501526 0.74 [{'connected_gene': 'PIR44656', 'score': 550.77}, {'connected_gene': 'ACO2', 'score': 12.15}, {'connected_gene': 'PHF5A', 'score': 12.15}, {'connected_gene': 'CSDC2', 'score': 11.26}, {'connected_gene': 'ENSG00000227370', 'score': 6.59}, {'connected_gene': 'L3MBTL2', 'score': 4.61}, {'connected_gene': 'POLR3H', 'score': 4.17}, {'connected_gene': 'GC22M042674', 'score': 0.44}]
chr22 GH22I041443 41443217 41443601 0.82 [{'connected_gene': 'GC22P041443', 'score': 550.77}, {'connected_gene': 'ACO2', 'score': 11.81}, {'connected_gene': 'PHF5A', 'score': 11.81}, {'connected_gene': 'CYP2D6', 'score': 5.53}, {'connected_gene': 'TOB2', 'score': 3.41}, {'connected_gene': 'LOC105373043', 'score': 0.77}]
chr22 GH22I041514 41514568 41514899 0.2 [{'connected_gene': 'PIR38077', 'score': 0.44}, {'connected_gene': 'PIR57348', 'score': 0.39}, {'connected_gene': 'ACO2', 'score': 0.25}]
chr22 GH22I041396 41396469 41397092 0.31 [{'connected_gene': 'PIR38134', 'score': 550.77}, {'connected_gene': 'PIR55540', 'score': 550.77}, {'connected_gene': 'PIR58640', 'score': 550.77}, {'connected_gene': 'PIR50015', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 15.15}, {'connected_gene': 'TEF', 'score': 12.41}, {'connected_gene': 'MEI1', 'score': 11.71}, {'connected_gene': 'ACO2', 'score': 11.31}, {'connected_gene': 'PHF5A', 'score': 11.31}, {'connected_gene': 'CCDC134', 'score': 9.85}, {'connected_gene': 'POLR3H', 'score': 4.73}, {'connected_gene': 'GC22P041361', 'score': 0.28}]
chr22 GH22I041509 41509363 41509750 0.2 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.26}]
chr22 GH22I041506 41506507 41507381 0.31 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.38}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR44656', 'score': 0.44}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041510 41508120 41508702 0.2 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041490 41490737 41491992 1.06 [{'connected_gene': 'GC22M042674', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 10.84}, {'connected_gene': 'ACO2', 'score': 0.34}]
chr22 GH22I041508 41508774 41508957 0.42 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'CHADL', 'score': 4.86}, {'connected_gene': 'TEF', 'score': 3.68}, {'connected_gene': 'TOB2', 'score': 1.56}, {'connected_gene': 'WBP2NL', 'score': 1.52}, {'connected_gene': 'SEPT3', 'score': 1.42}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041441 41441880 41443160 0.31 [{'connected_gene': 'GC22P041443', 'score': 550.77}, {'connected_gene': 'POLR3H', 'score': 15.95}, {'connected_gene': 'ACO2', 'score': 11.88}, {'connected_gene': 'PHF5A', 'score': 11.88}, {'connected_gene': 'LOC105373043', 'score': 0.44}, {'connected_gene': 'TOB2', 'score': 0.44}]
chr22 GH22I041522 41522579 41527429 1.33 [{'connected_gene': 'PIR57348', 'score': 550.77}, {'connected_gene': 'POLR3H', 'score': 27.42}, {'connected_gene': 'NDUFA6', 'score': 13.63}, {'connected_gene': 'PIR38077', 'score': 0.37}, {'connected_gene': 'GC22M042641', 'score': 0.25}, {'connected_gene': 'ACO2', 'score': 0.22}]
chr22 GH22I041409 41409898 41416053 1.88 [{'connected_gene': 'GC22P041413', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 16.8}, {'connected_gene': 'EP300', 'score': 13.98}, {'connected_gene': 'POLR3H', 'score': 12.99}, {'connected_gene': 'PHF5A', 'score': 12.97}, {'connected_gene': 'CYP2D8P', 'score': 11.51}, {'connected_gene': 'TCF20', 'score': 11.23}, {'connected_gene': 'SLC25A17', 'score': 10.88}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'ENSG00000272834', 'score': 10.01}, {'connected_gene': 'ENSG00000232754', 'score': 9.95}, {'connected_gene': 'ENSG00000273366', 'score': 9.7}, {'connected_gene': 'NDUFA6', 'score': 5.81}, {'connected_gene': 'TEF', 'score': 5.48}, {'connected_gene': 'CHADL', 'score': 4.9}, {'connected_gene': 'TOB2', 'score': 4.85}, {'connected_gene': 'ZC3H7B', 'score': 4.4}, {'connected_gene': 'CSDC2', 'score': 4.3}, {'connected_gene': 'XPNPEP3', 'score': 4.11}, {'connected_gene': 'ACO2', 'score': 1.28}, {'connected_gene': 'CCDC134', 'score': 1.06}, {'connected_gene': 'PIR55540', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.23}]
chr22 GH22I041528 41528989 41529695 0.63 [{'connected_gene': 'PIR33755', 'score': 550.77}, {'connected_gene': 'PIR61091', 'score': 550.77}, {'connected_gene': 'GC22P041529', 'score': 550.77}, {'connected_gene': 'GC22M042300', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 14.77}, {'connected_gene': 'POLR3H', 'score': 0.37}, {'connected_gene': 'GC22M042641', 'score': 0.26}, {'connected_gene': 'ACO2', 'score': 0.21}]

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