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
ENST00000261254 [[4382937, 4383401], [4385170, 4385386], [4387925, 4388085], [4398007, 4398156], [4409025, 4414516]] [[4383206, 4383401], [4385170, 4385386], [4387925, 4388085], [4398007, 4398156], [4409025, 4409175]]
ENST00000536537 [[4385229, 4385386], [4387925, 4388085], [4406922, 4407134]] [[4385229, 4385386], [4387925, 4388085], [4406922, 4407116]]
ENST00000536795 [[4387833, 4388085], [4398007, 4398327]] None
ENST00000541542 [[4387965, 4388085], [4394440, 4394642]] None
NM_001759 [[4382901, 4383401], [4385170, 4385386], [4387925, 4388085], [4398007, 4398156], [4409025, 4414522]] [[4383206, 4383401], [4385170, 4385386], [4387925, 4388085], [4398007, 4398156], [4409025, 4409175]]
Promoter
Chrom Start End Description
chr12 4382904 4382916 CAGE_peak_4_at_CCND2_5end
chr12 4382917 4382935 CAGE_peak_1_at_CCND2_5end
chr12 4382956 4382975 CAGE_peak_2_at_CCND2_5end
chr12 4382987 4383001 CAGE_peak_3_at_CCND2_5end
chr12 4388020 4388039 CAGE_peak_9_at_CCND2_5end
chr12 4388045 4388063 CAGE_peak_18_at_CCND2_5end
chr12 4409051 4409087 CAGE_peak_7_at_CCND2_5end
chr12 4409178 4409221 CAGE_peak_5_at_CCND2_5end
chr12 4409274 4409294 CAGE_peak_17_at_CCND2_5end
chr12 4413412 4413423 CAGE_peak_10_at_CCND2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I004223 4223177 4224908 0.9 [{'connected_gene': 'CCND2', 'score': 11.49}, {'connected_gene': 'CCND2-AS1', 'score': 11.47}, {'connected_gene': 'ENSG00000255920', 'score': 11.47}, {'connected_gene': 'CRACR2A', 'score': 4.49}, {'connected_gene': 'PARP11', 'score': 1.28}, {'connected_gene': 'GC12P005657', 'score': 0.37}]
chr12 GH12I004268 4268440 4281853 2.83 [{'connected_gene': 'CCND2', 'score': 554.83}, {'connected_gene': 'CCND2-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000255920', 'score': 550.77}, {'connected_gene': 'GC12P005516', 'score': 550.77}, {'connected_gene': 'PARP11', 'score': 9.75}, {'connected_gene': 'C12orf4', 'score': 1.99}, {'connected_gene': 'TIGAR', 'score': 1.41}]
chr12 GH12I004296 4296871 4297176 0.46 [{'connected_gene': 'CCND2', 'score': 18.32}, {'connected_gene': 'CCND2-AS1', 'score': 12.09}, {'connected_gene': 'ENSG00000255920', 'score': 12.09}, {'connected_gene': 'PARP11', 'score': 2.41}, {'connected_gene': 'PIR44232', 'score': 0.44}]
chr12 GH12I004030 4030323 4034561 1.38 [{'connected_gene': 'CCND2', 'score': 12.64}, {'connected_gene': 'CCND2-AS1', 'score': 11.54}, {'connected_gene': 'ENSG00000255920', 'score': 11.54}, {'connected_gene': 'ENSG00000256969', 'score': 5.92}, {'connected_gene': 'HSPA8P5', 'score': 5.78}, {'connected_gene': 'RPL18P9', 'score': 5.05}, {'connected_gene': 'PARP11', 'score': 1.44}]
chr12 GH12I004088 4088336 4090573 0.2 [{'connected_gene': 'CCND2', 'score': 10.78}, {'connected_gene': 'CCND2-AS1', 'score': 10.77}, {'connected_gene': 'ENSG00000255920', 'score': 10.77}, {'connected_gene': 'HSPA8P5', 'score': 0.44}, {'connected_gene': 'ENSG00000256969', 'score': 0.2}]
chr12 GH12I004164 4164106 4165852 1.27 [{'connected_gene': 'CCND2', 'score': 12.89}, {'connected_gene': 'CCND2-AS1', 'score': 11.32}, {'connected_gene': 'ENSG00000255920', 'score': 11.32}, {'connected_gene': 'GC12P005650', 'score': 0.37}, {'connected_gene': 'LOC105369612', 'score': 0.28}]
chr12 GH12I004285 4285775 4290400 1 [{'connected_gene': 'CCND2', 'score': 6.34}, {'connected_gene': 'CCND2-AS1', 'score': 0.39}, {'connected_gene': 'PIR44232', 'score': 0.39}]
chr12 GH12I004293 4293445 4294490 0.74 [{'connected_gene': 'CCND2', 'score': 12.09}, {'connected_gene': 'PIR44232', 'score': 0.44}, {'connected_gene': 'CCND2-AS1', 'score': 0.37}]
chr12 GH12I004116 4115126 4115253 0.65 [{'connected_gene': 'CCND2', 'score': 2.67}, {'connected_gene': 'RPL18P9', 'score': 0.77}, {'connected_gene': 'GC12P005663', 'score': 0.77}, {'connected_gene': 'HSPA8P5', 'score': 0.37}]
chr12 GH12I004242 4242801 4243000 0.31 [{'connected_gene': 'CCND2', 'score': 0.29}, {'connected_gene': 'GC12P005657', 'score': 0.28}]
chr12 GH12I004243 4243242 4243602 0.43 [{'connected_gene': 'CCND2', 'score': 0.29}, {'connected_gene': 'GC12P005657', 'score': 0.28}]
chr12 GH12I004245 4243615 4243742 0.31 [{'connected_gene': 'CCND2', 'score': 0.29}, {'connected_gene': 'GC12P005657', 'score': 0.28}]
chr12 GH12I004305 4305294 4306148 0.31 [{'connected_gene': 'FGF23', 'score': 11.04}, {'connected_gene': 'TIGAR', 'score': 0.77}, {'connected_gene': 'PIR44232', 'score': 0.77}, {'connected_gene': 'CCND2', 'score': 0.29}]
chr12 GH12I004339 4339177 4339554 0.24 [{'connected_gene': 'PARP11', 'score': 2.54}, {'connected_gene': 'TIGAR', 'score': 2.35}, {'connected_gene': 'CCND2', 'score': 1.49}, {'connected_gene': 'RPS15P7', 'score': 0.39}, {'connected_gene': 'FGF23', 'score': 0.26}]
chr12 GH12I004140 4140615 4144249 1.49 [{'connected_gene': 'HSPA8P5', 'score': 5.22}, {'connected_gene': 'PARP11', 'score': 3.93}, {'connected_gene': 'CRACR2A', 'score': 1.72}, {'connected_gene': 'CCND2', 'score': 1.27}, {'connected_gene': 'C12orf4', 'score': 1.15}, {'connected_gene': 'GC12P005650', 'score': 0.77}, {'connected_gene': 'RPL18P9', 'score': 0.34}]
chr12 GH12I004206 4205801 4206000 0.2 [{'connected_gene': 'LOC105369612', 'score': 550.77}, {'connected_gene': 'GC12P005657', 'score': 550.77}, {'connected_gene': 'ENSG00000255920', 'score': 11.66}, {'connected_gene': 'CCND2', 'score': 11.66}, {'connected_gene': 'CCND2-AS1', 'score': 11.65}]
chr12 GH12I004203 4203589 4204964 1.02 [{'connected_gene': 'LOC105369612', 'score': 550.77}, {'connected_gene': 'GC12P005657', 'score': 550.77}, {'connected_gene': 'CCND2', 'score': 14.24}, {'connected_gene': 'CCND2-AS1', 'score': 11.65}, {'connected_gene': 'ENSG00000255920', 'score': 11.65}]
chr12 GH12I004202 4202601 4202800 0.2 [{'connected_gene': 'LOC105369612', 'score': 550.77}, {'connected_gene': 'CCND2-AS1', 'score': 11.65}, {'connected_gene': 'ENSG00000255920', 'score': 11.65}, {'connected_gene': 'CCND2', 'score': 11.65}, {'connected_gene': 'GC12P005650', 'score': 0.22}]
chr12 GH12I004205 4203001 4203200 0.31 [{'connected_gene': 'LOC105369612', 'score': 550.77}, {'connected_gene': 'CCND2-AS1', 'score': 11.65}, {'connected_gene': 'ENSG00000255920', 'score': 11.65}, {'connected_gene': 'CCND2', 'score': 11.65}, {'connected_gene': 'GC12P005650', 'score': 0.22}]
chr12 GH12I004204 4202201 4202400 0.2 [{'connected_gene': 'LOC105369612', 'score': 550.77}, {'connected_gene': 'CCND2-AS1', 'score': 11.65}, {'connected_gene': 'ENSG00000255920', 'score': 11.65}, {'connected_gene': 'CCND2', 'score': 11.65}, {'connected_gene': 'GC12P005650', 'score': 0.22}]
chr12 GH12I003961 3961846 3963583 0.96 [{'connected_gene': 'CCND2-AS1', 'score': 11.66}, {'connected_gene': 'ENSG00000255920', 'score': 11.66}, {'connected_gene': 'CCND2', 'score': 11.66}, {'connected_gene': 'PARP11', 'score': 2.2}, {'connected_gene': 'CRACR2A', 'score': 1.39}, {'connected_gene': 'LOC105369608', 'score': 0.77}, {'connected_gene': 'PIR49890', 'score': 0.39}]
chr12 GH12I003880 3880225 3883001 0.38 [{'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'PARP11', 'score': 8.73}, {'connected_gene': 'GC12M003877', 'score': 0.77}, {'connected_gene': 'LOC105369609', 'score': 0.39}, {'connected_gene': 'GC12P005659', 'score': 0.21}]
chr12 GH12I004023 4023601 4028100 0.99 [{'connected_gene': 'CCND2-AS1', 'score': 10.76}, {'connected_gene': 'ENSG00000255920', 'score': 10.76}, {'connected_gene': 'CCND2', 'score': 10.76}, {'connected_gene': 'ENSG00000256969', 'score': 7.44}, {'connected_gene': 'HSPA8P5', 'score': 6.17}, {'connected_gene': 'RPL18P9', 'score': 5.13}]
chr12 GH12I004034 4034626 4036143 0.38 [{'connected_gene': 'CCND2-AS1', 'score': 11.54}, {'connected_gene': 'ENSG00000255920', 'score': 11.54}, {'connected_gene': 'CCND2', 'score': 11.54}, {'connected_gene': 'ENSG00000256969', 'score': 0.39}, {'connected_gene': 'HSPA8P5', 'score': 0.21}]
chr12 GH12I004106 4106525 4108000 1.14 [{'connected_gene': 'CCND2-AS1', 'score': 12.4}, {'connected_gene': 'ENSG00000255920', 'score': 12.4}, {'connected_gene': 'CCND2', 'score': 12.4}, {'connected_gene': 'HSPA8P5', 'score': 0.44}, {'connected_gene': 'GC12P005663', 'score': 0.39}]
chr12 GH12I004091 4091233 4092104 0.31 [{'connected_gene': 'CCND2-AS1', 'score': 10.78}, {'connected_gene': 'ENSG00000255920', 'score': 10.78}, {'connected_gene': 'CCND2', 'score': 10.78}, {'connected_gene': 'HSPA8P5', 'score': 0.44}, {'connected_gene': 'ENSG00000256969', 'score': 0.19}]
chr12 GH12I004037 4037621 4039593 0.82 [{'connected_gene': 'CCND2-AS1', 'score': 11.29}, {'connected_gene': 'ENSG00000255920', 'score': 11.29}, {'connected_gene': 'CCND2', 'score': 11.29}, {'connected_gene': 'ENSG00000256969', 'score': 5.67}, {'connected_gene': 'HSPA8P5', 'score': 0.22}]
chr12 GH12I003994 3994752 3995827 0.59 [{'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'LOC105369611', 'score': 0.37}, {'connected_gene': 'GC12M003967', 'score': 0.34}]
chr12 GH12I003995 3995895 3996104 0.68 [{'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'LOC105369611', 'score': 0.37}, {'connected_gene': 'GC12M003967', 'score': 0.34}]
chr12 GH12I003997 3997659 4001027 0.94 [{'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'LOC105369611', 'score': 0.39}, {'connected_gene': 'GC12M003967', 'score': 0.34}]
chr12 GH12I003896 3896192 3899093 0.66 [{'connected_gene': 'CCND2-AS1', 'score': 11.6}, {'connected_gene': 'ENSG00000255920', 'score': 11.6}, {'connected_gene': 'CCND2', 'score': 11.6}, {'connected_gene': 'GC12M003877', 'score': 0.37}, {'connected_gene': 'LOC105369609', 'score': 0.31}, {'connected_gene': 'GC12P005659', 'score': 0.25}]
chr12 GH12I003883 3883315 3883332 0.38 [{'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'GC12M003877', 'score': 0.44}, {'connected_gene': 'LOC105369609', 'score': 0.39}, {'connected_gene': 'GC12P005659', 'score': 0.21}]
chr12 GH12I003906 3906201 3906400 0.2 [{'connected_gene': 'CCND2-AS1', 'score': 11.6}, {'connected_gene': 'ENSG00000255920', 'score': 11.6}, {'connected_gene': 'CCND2', 'score': 11.6}, {'connected_gene': 'GC12M003877', 'score': 0.31}, {'connected_gene': 'GC12P005659', 'score': 0.28}, {'connected_gene': 'LOC105369609', 'score': 0.28}]
chr12 GH12I004112 4112465 4113762 0.71 [{'connected_gene': 'CCND2-AS1', 'score': 11.85}, {'connected_gene': 'ENSG00000255920', 'score': 11.85}, {'connected_gene': 'CCND2', 'score': 11.85}, {'connected_gene': 'RPL18P9', 'score': 0.44}, {'connected_gene': 'GC12P005663', 'score': 0.44}, {'connected_gene': 'HSPA8P5', 'score': 0.37}]
chr12 GH12I004228 4228135 4228344 0.49 [{'connected_gene': 'CCND2-AS1', 'score': 11.49}, {'connected_gene': 'ENSG00000255920', 'score': 11.49}, {'connected_gene': 'CCND2', 'score': 11.49}, {'connected_gene': 'GC12P005657', 'score': 0.34}]
chr12 GH12I004283 4283535 4284652 0.46 [{'connected_gene': 'CCND2-AS1', 'score': 0.44}, {'connected_gene': 'CCND2', 'score': 0.39}, {'connected_gene': 'PIR44232', 'score': 0.37}]
chr12 GH12I004022 4022110 4022211 0.22 [{'connected_gene': 'ENSG00000256969', 'score': 550.77}, {'connected_gene': 'CCND2', 'score': 1.37}, {'connected_gene': 'HSPA8P5', 'score': 0.18}]
chr12 GH12I004214 4214764 4217055 1.23 [{'connected_gene': 'ENSG00000255920', 'score': 11.95}, {'connected_gene': 'CCND2', 'score': 11.95}, {'connected_gene': 'CCND2-AS1', 'score': 11.94}, {'connected_gene': 'PARP11', 'score': 2.6}, {'connected_gene': 'GC12P005657', 'score': 0.39}]
chr12 GH12I004004 4004563 4007734 0.62 [{'connected_gene': 'ENSG00000255920', 'score': 11.78}, {'connected_gene': 'CCND2', 'score': 11.78}, {'connected_gene': 'CCND2-AS1', 'score': 11.78}, {'connected_gene': 'LOC105369611', 'score': 0.44}, {'connected_gene': 'GC12M003967', 'score': 0.29}]
chr12 GH12I003884 3884468 3886244 0.86 [{'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'GC12M003877', 'score': 0.44}, {'connected_gene': 'LOC105369609', 'score': 0.37}, {'connected_gene': 'GC12P005659', 'score': 0.22}]
chr12 GH12I004244 4244915 4246896 0.77 [{'connected_gene': 'ENSG00000255920', 'score': 11.65}, {'connected_gene': 'CCND2', 'score': 11.65}, {'connected_gene': 'CCND2-AS1', 'score': 11.63}, {'connected_gene': 'GC12P005657', 'score': 0.26}]
chr12 GH12I004302 4302464 4304244 0.58 [{'connected_gene': 'PIR44232', 'score': 550.77}, {'connected_gene': 'FGF23', 'score': 11.03}, {'connected_gene': 'TIGAR', 'score': 0.77}, {'connected_gene': 'CCND2', 'score': 0.31}]
chr12 GH12I004300 4300382 4301404 0.38 [{'connected_gene': 'PIR44232', 'score': 550.77}, {'connected_gene': 'FGF23', 'score': 11.03}, {'connected_gene': 'CCND2-AS1', 'score': 0.34}, {'connected_gene': 'CCND2', 'score': 0.31}]
chr12 GH12I004146 4146037 4147502 1.16 [{'connected_gene': 'GC12P005650', 'score': 550.77}, {'connected_gene': 'HSPA8P5', 'score': 5.64}, {'connected_gene': 'CCND2', 'score': 1.84}, {'connected_gene': 'LOC105369612', 'score': 0.22}]
chr12 GH12I004115 4115585 4119868 1.51 [{'connected_gene': 'GC12P005663', 'score': 550.77}, {'connected_gene': 'HSPA8P5', 'score': 6.18}, {'connected_gene': 'CCND2', 'score': 4.26}, {'connected_gene': 'RPL18P9', 'score': 0.77}, {'connected_gene': 'GC12M004119', 'score': 0.77}]
chr12 GH12I003976 3976316 3977065 0.2 [{'connected_gene': 'PIR49890', 'score': 550.77}, {'connected_gene': 'GC12M003967', 'score': 550.77}, {'connected_gene': 'CCND2-AS1', 'score': 11.86}, {'connected_gene': 'ENSG00000255920', 'score': 11.86}, {'connected_gene': 'CCND2', 'score': 11.86}, {'connected_gene': 'LOC105369611', 'score': 0.28}]
chr12 GH12I004292 4292209 4293187 0.2 [{'connected_gene': 'PIR44232', 'score': 0.44}, {'connected_gene': 'CCND2-AS1', 'score': 0.37}, {'connected_gene': 'CCND2', 'score': 0.37}]