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
ENST00000379719 [[9406168, 9406394], [9424836, 9424918], [9430032, 9430186], [9431474, 9431633], [9435801, 9435958], [9438605, 9438695], [9441957, 9442052], [9442160, 9442245], [9444552, 9444687], [9445323, 9445423], [9446460, 9446537], [9446692, 9446809], [9450086, 9450176], [9450577, 9450743], [9451220, 9451381], [9452421, 9452550], [9455116, 9455183], [9455267, 9455393], [9456480, 9456578], [9457817, 9457913], [9459300, 9459521], [9459626, 9459832], [9462001, 9462208], [9463627, 9463744], [9466643, 9469673]] [[9406310, 9406394], [9424836, 9424918], [9430032, 9430186], [9431474, 9431633], [9435801, 9435958], [9438605, 9438695], [9441957, 9442052], [9442160, 9442245], [9444552, 9444687], [9445323, 9445423], [9446460, 9446537], [9446692, 9446809], [9450086, 9450176], [9450577, 9450743], [9451220, 9451381], [9452421, 9452550], [9455116, 9455183], [9455267, 9455393], [9456480, 9456578], [9457817, 9457913], [9459300, 9459521], [9459626, 9459832], [9462001, 9462208], [9463627, 9463744], [9466643, 9466741]]
ENST00000533233 [[9406198, 9406394], [9413744, 9413867], [9430032, 9430186], [9431474, 9431579]] [[9406310, 9406394], [9413744, 9413855]]
ENST00000527431 [[9406199, 9406394], [9430032, 9430186], [9431474, 9431633], [9435801, 9435900]] [[9430052, 9430186], [9431474, 9431633], [9435801, 9435900]]
ENST00000533680 [[9424280, 9424297], [9424465, 9425087]] None
ENST00000528833 [[9431615, 9431633], [9435801, 9436138]] None
ENST00000531235 [[9441825, 9442052], [9442160, 9442216]] None
ENST00000530037 [[9445332, 9445423], [9446460, 9446537], [9446692, 9446871]] None
NM_006391 [[9406168, 9406394], [9424836, 9424918], [9430032, 9430186], [9431474, 9431633], [9435801, 9435958], [9438605, 9438695], [9441957, 9442052], [9442160, 9442245], [9444552, 9444687], [9445323, 9445423], [9446460, 9446537], [9446692, 9446809], [9450086, 9450176], [9450577, 9450743], [9451220, 9451381], [9452421, 9452550], [9455116, 9455183], [9455267, 9455393], [9456480, 9456578], [9457817, 9457913], [9459300, 9459521], [9459626, 9459832], [9462001, 9462208], [9463627, 9463744], [9466643, 9469674]] [[9406310, 9406394], [9424836, 9424918], [9430032, 9430186], [9431474, 9431633], [9435801, 9435958], [9438605, 9438695], [9441957, 9442052], [9442160, 9442245], [9444552, 9444687], [9445323, 9445423], [9446460, 9446537], [9446692, 9446809], [9450086, 9450176], [9450577, 9450743], [9451220, 9451381], [9452421, 9452550], [9455116, 9455183], [9455267, 9455393], [9456480, 9456578], [9457817, 9457913], [9459300, 9459521], [9459626, 9459832], [9462001, 9462208], [9463627, 9463744], [9466643, 9466741]]
Promoter
Chrom Start End Description
chr11 9406149 9406155 CAGE_peak_2_at_IPO7_5end
chr11 9406169 9406210 CAGE_peak_1_at_IPO7_5end
chr11 9459621 9459635 CAGE_peak_3_at_IPO7_5end
chr11 9466943 9466951 CAGE_peak_4_at_IPO7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I009528 9528644 9531560 1.04 [{'connected_gene': 'ZNF143', 'score': 14.7}, {'connected_gene': 'WEE1', 'score': 11.88}, {'connected_gene': 'ENSG00000238387', 'score': 11.87}, {'connected_gene': 'IPO7', 'score': 4.63}, {'connected_gene': 'PIR40365', 'score': 0.31}, {'connected_gene': 'LOC644656', 'score': 0.2}, {'connected_gene': 'GC11P009430', 'score': 0.15}]
chr11 GH11I009458 9458899 9463898 2.31 [{'connected_gene': 'ZNF143', 'score': 601.68}, {'connected_gene': 'LOC644656', 'score': 550.77}, {'connected_gene': 'SNORA3B', 'score': 46.49}, {'connected_gene': 'RPL21P97', 'score': 28.89}, {'connected_gene': 'RPL27A', 'score': 23.35}, {'connected_gene': 'TMEM9B-AS1', 'score': 11.66}, {'connected_gene': 'WEE1', 'score': 10.76}, {'connected_gene': 'IPO7', 'score': 7.78}, {'connected_gene': 'GC11P009430', 'score': 0.29}, {'connected_gene': 'PIR40365', 'score': 0.15}]
chr11 GH11I009600 9600301 9602689 1.44 [{'connected_gene': 'WEE1', 'score': 5.63}, {'connected_gene': 'SWAP70', 'score': 5.2}, {'connected_gene': 'IPO7', 'score': 4.13}, {'connected_gene': 'ZNF143', 'score': 1.34}, {'connected_gene': 'RPL23AP65', 'score': 0.77}, {'connected_gene': 'GC11P009580', 'score': 0.34}, {'connected_gene': 'GC11P009430', 'score': 0.09}]
chr11 GH11I009358 9358134 9358283 0.59 [{'connected_gene': 'SNORA3B', 'score': 9.93}, {'connected_gene': 'GC11P009354', 'score': 0.77}, {'connected_gene': 'IPO7', 'score': 0.31}]
chr11 GH11I009001 9001562 9002441 1.06 [{'connected_gene': 'NRIP3', 'score': 23.67}, {'connected_gene': 'AKIP1', 'score': 21.51}, {'connected_gene': 'SCUBE2', 'score': 19.61}, {'connected_gene': 'DENND5A', 'score': 14.76}, {'connected_gene': 'ZNF143', 'score': 5.53}, {'connected_gene': 'TMEM9B', 'score': 2.23}, {'connected_gene': 'IPO7', 'score': 1.53}, {'connected_gene': 'GC11P008977', 'score': 0.34}]
chr11 GH11I009208 9208176 9212325 1.21 [{'connected_gene': 'DENND5A', 'score': 18.14}, {'connected_gene': 'SCUBE2', 'score': 17.02}, {'connected_gene': 'IPO7', 'score': 11.83}, {'connected_gene': 'TMEM41B', 'score': 10.53}, {'connected_gene': 'GC11M009222', 'score': 0.39}]
chr11 GH11I009361 9361045 9365986 1.66 [{'connected_gene': 'DENND5A', 'score': 31.56}, {'connected_gene': 'NRIP3', 'score': 28.47}, {'connected_gene': 'SNORA3B', 'score': 16.48}, {'connected_gene': 'ZNF143', 'score': 15.37}, {'connected_gene': 'AKIP1', 'score': 12.18}, {'connected_gene': 'RPL21P97', 'score': 11.44}, {'connected_gene': 'RPL27A', 'score': 11.27}, {'connected_gene': 'IPO7', 'score': 9.64}, {'connected_gene': 'TMEM41B', 'score': 6.17}, {'connected_gene': 'TMEM9B', 'score': 2.9}, {'connected_gene': 'SWAP70', 'score': 1.25}, {'connected_gene': 'GC11P009354', 'score': 0.44}]
chr11 GH11I009158 9158912 9161155 1.01 [{'connected_gene': 'DENND5A', 'score': 32.33}, {'connected_gene': 'NRIP3', 'score': 28.15}, {'connected_gene': 'SCUBE2', 'score': 16.69}, {'connected_gene': 'TMEM41B', 'score': 9.74}, {'connected_gene': 'ZNF143', 'score': 6.51}, {'connected_gene': 'IPO7', 'score': 2.32}, {'connected_gene': 'TMEM9B', 'score': 1.52}, {'connected_gene': 'RPL27A', 'score': 1.31}, {'connected_gene': 'GC11M009222', 'score': 0.21}]
chr11 GH11I009401 9401297 9401508 0.33 [{'connected_gene': 'DENND5A', 'score': 10.97}, {'connected_gene': 'IPO7', 'score': 1.97}, {'connected_gene': 'NRIP3', 'score': 1.3}, {'connected_gene': 'GC11P009428', 'score': 0.31}]
chr11 GH11I009395 9395434 9397264 0.49 [{'connected_gene': 'DENND5A', 'score': 10.92}, {'connected_gene': 'IPO7', 'score': 0.39}, {'connected_gene': 'GC11P009428', 'score': 0.29}]
chr11 GH11I009397 9397634 9397783 0.31 [{'connected_gene': 'DENND5A', 'score': 10.92}, {'connected_gene': 'IPO7', 'score': 0.39}, {'connected_gene': 'GC11P009428', 'score': 0.29}]
chr11 GH11I009383 9383738 9386876 2.08 [{'connected_gene': 'IPO7', 'score': 556.32}, {'connected_gene': 'SNORA3B', 'score': 27.47}, {'connected_gene': 'ZNF143', 'score': 11.5}, {'connected_gene': 'RPL27A', 'score': 11.09}, {'connected_gene': 'RPL21P97', 'score': 10.51}, {'connected_gene': 'GC11P009428', 'score': 0.26}]
chr11 GH11I009214 9214658 9215600 1 [{'connected_gene': 'IPO7', 'score': 11.84}, {'connected_gene': 'DENND5A', 'score': 11.77}, {'connected_gene': 'SCUBE2', 'score': 5.09}, {'connected_gene': 'GC11M009222', 'score': 0.44}]
chr11 GH11I009215 9215845 9216988 0.43 [{'connected_gene': 'IPO7', 'score': 11.84}, {'connected_gene': 'DENND5A', 'score': 11.78}, {'connected_gene': 'TMEM41B', 'score': 10.77}, {'connected_gene': 'GC11M009222', 'score': 0.44}, {'connected_gene': 'SCUBE2', 'score': 0.18}]
chr11 GH11I009318 9318333 9318868 0.52 [{'connected_gene': 'IPO7', 'score': 12.68}, {'connected_gene': 'DENND5A', 'score': 11.31}, {'connected_gene': 'TMEM41B', 'score': 0.77}, {'connected_gene': 'GC11P009354', 'score': 0.28}]
chr11 GH11I009320 9320154 9320303 0.56 [{'connected_gene': 'IPO7', 'score': 12.68}, {'connected_gene': 'DENND5A', 'score': 11.31}, {'connected_gene': 'TMEM41B', 'score': 0.44}, {'connected_gene': 'GC11P009354', 'score': 0.29}]
chr11 GH11I009378 9378927 9379428 0.43 [{'connected_gene': 'IPO7', 'score': 0.44}, {'connected_gene': 'GC11P009354', 'score': 0.31}]
chr11 GH11I009273 9273201 9274600 1.1 [{'connected_gene': 'TRL-CAA5-1', 'score': 550.77}, {'connected_gene': 'DENND5A', 'score': 36.05}, {'connected_gene': 'NRIP3', 'score': 26.34}, {'connected_gene': 'TMEM41B', 'score': 10.56}, {'connected_gene': 'SCUBE2', 'score': 9.74}, {'connected_gene': 'ZNF143', 'score': 8.99}, {'connected_gene': 'IPO7', 'score': 2.48}, {'connected_gene': 'TMEM9B', 'score': 1.8}]
chr11 GH11I009319 9318971 9320064 1.1 [{'connected_gene': 'ENSG00000254397', 'score': 14.86}, {'connected_gene': 'TMEM41B', 'score': 14.19}, {'connected_gene': 'IPO7', 'score': 12.68}, {'connected_gene': 'DENND5A', 'score': 11.31}, {'connected_gene': 'SNORA3B', 'score': 11.22}, {'connected_gene': 'ST5', 'score': 10.43}, {'connected_gene': 'RPL21P97', 'score': 10.34}, {'connected_gene': 'SCUBE2', 'score': 8.48}, {'connected_gene': 'GC11P009354', 'score': 0.29}]