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
ENST00000532481 [[77532154, 77532226], [77553524, 77553674], [77580767, 77580863], [77629106, 77629478]] [[77553542, 77553674], [77580767, 77580863], [77629106, 77629145]]
ENST00000526164 [[77532159, 77532287], [77553524, 77553674], [77580767, 77580863], [77595825, 77595962], [77611616, 77611831]] [[77553542, 77553674], [77580767, 77580863], [77595825, 77595879]]
ENST00000527134 [[77532199, 77532287], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77587995, 77588095], [77589747, 77589802], [77611616, 77611778]] [[77553542, 77553674], [77580767, 77580863], [77587995, 77588095], [77589747, 77589802], [77611616, 77611647]]
ENST00000304716 [[77532200, 77532287], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77587995, 77588095], [77611616, 77611760]] [[77553542, 77553674], [77580767, 77580863], [77587995, 77588095], [77611616, 77611732]]
ENST00000529666 [[77587993, 77588095], [77595825, 77595962], [77611616, 77611817]] [[77587993, 77588095], [77595825, 77595879]]
ENST00000526415 [[77532174, 77532287], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77583220, 77583398]] [[77553542, 77553674], [77580767, 77580863], [77583220, 77583361]]
ENST00000531855 [[77532187, 77532287], [77542937, 77543058], [77552064, 77552301]] None
ENST00000393427 [[77532189, 77532287], [77553524, 77553674], [77580767, 77580863], [77583220, 77583407]] [[77553542, 77553674], [77580767, 77580863], [77583220, 77583361]]
ENST00000525409 [[77532232, 77532283], [77552064, 77552106], [77553524, 77553674], [77583220, 77583398]] [[77553542, 77553674], [77583220, 77583361]]
ENST00000533193 [[77552064, 77552106], [77553524, 77553674], [77566390, 77566528], [77580767, 77580863], [77583220, 77583400]] [[77553542, 77553674], [77566390, 77566528], [77580767, 77580863], [77583220, 77583361]]
ENST00000525034 [[77552183, 77552270], [77553524, 77553674], [77580767, 77580863], [77583220, 77583398]] [[77552231, 77552270], [77553524, 77553674], [77580767, 77580863], [77583220, 77583361]]
NR_133637 [[77532159, 77532287], [77553524, 77553674], [77580767, 77580863], [77595825, 77595962], [77611616, 77611831]] None
NM_001316957 [[77532159, 77532287], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77587995, 77588095], [77611616, 77611831]] [[77553542, 77553674], [77580767, 77580863], [77587995, 77588095], [77611616, 77611732]]
NM_001316958 [[77532159, 77532287], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77587995, 77588095], [77589747, 77589802], [77611616, 77611831]] [[77553542, 77553674], [77580767, 77580863], [77587995, 77588095], [77589747, 77589802], [77611616, 77611647]]
NM_001316961 [[77532159, 77532283], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77583220, 77583398]] [[77553542, 77553674], [77580767, 77580863], [77583220, 77583361]]
NM_024684 [[77532159, 77532287], [77553524, 77553674], [77580767, 77580863], [77583220, 77583398]] [[77553542, 77553674], [77580767, 77580863], [77583220, 77583361]]
NM_001316962 [[77532159, 77532287], [77552064, 77552106], [77553524, 77553674], [77580767, 77580863], [77583220, 77583398]] [[77553542, 77553674], [77580767, 77580863], [77583220, 77583361]]
NM_001316960 [[77532159, 77532287], [77542940, 77543058], [77553524, 77553674], [77580767, 77580863], [77583220, 77583398]] [[77553542, 77553674], [77580767, 77580863], [77583220, 77583361]]
Promoter
Chrom Start End Description
chr11 77532171 77532210 CAGE_peak_1_at_C11orf67_5end
chr11 77532233 77532244 CAGE_peak_2_at_C11orf67_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I077547 77547318 77549739 0.82 [{'connected_gene': 'INTS4', 'score': 9.76}, {'connected_gene': 'AAMDC', 'score': 5.8}, {'connected_gene': 'GC11M077551', 'score': 0.77}, {'connected_gene': 'PAK1', 'score': 0.19}, {'connected_gene': 'CLNS1A', 'score': 0.17}]
chr11 GH11I077752 77752147 77754024 0.31 [{'connected_gene': 'INTS4', 'score': 17.6}, {'connected_gene': 'AAMDC', 'score': 15.6}, {'connected_gene': 'AQP11', 'score': 6.99}, {'connected_gene': 'RSF1-IT1', 'score': 0.39}, {'connected_gene': 'GC11P077793', 'score': 0.26}, {'connected_gene': 'RSF1', 'score': 0.2}]
chr11 GH11I077958 77958368 77960078 0.69 [{'connected_gene': 'INTS4', 'score': 21.04}, {'connected_gene': 'AAMDC', 'score': 17.53}, {'connected_gene': 'AQP11', 'score': 8.2}, {'connected_gene': 'ENSG00000255115', 'score': 0.26}]
chr11 GH11I077671 77671588 77673198 0.31 [{'connected_gene': 'INTS4', 'score': 16.19}, {'connected_gene': 'AAMDC', 'score': 13.36}, {'connected_gene': 'GC11P077692', 'score': 0.37}, {'connected_gene': 'CLNS1A', 'score': 0.29}, {'connected_gene': 'RSF1', 'score': 0.11}]
chr11 GH11I077633 77633801 77635800 0.95 [{'connected_gene': 'INTS4', 'score': 12.12}, {'connected_gene': 'AAMDC', 'score': 4.41}, {'connected_gene': 'CLNS1A', 'score': 0.77}, {'connected_gene': 'GC11P077625', 'score': 0.44}, {'connected_gene': 'GC11P077629', 'score': 0.44}]
chr11 GH11I077886 77886435 77886664 0.31 [{'connected_gene': 'INTS4', 'score': 7.87}, {'connected_gene': 'PIR41602', 'score': 0.77}, {'connected_gene': 'PIR57546', 'score': 0.39}, {'connected_gene': 'AAMDC', 'score': 0.2}]
chr11 GH11I077993 77993733 77996177 2.09 [{'connected_gene': 'INTS4', 'score': 581.81}, {'connected_gene': 'RPL21P95', 'score': 25.01}, {'connected_gene': 'LOC101928865', 'score': 23.78}, {'connected_gene': 'ENSG00000255449', 'score': 23.15}, {'connected_gene': 'AAMDC', 'score': 13.65}, {'connected_gene': 'KCTD21-AS1', 'score': 4.42}, {'connected_gene': 'ENSG00000254829', 'score': 0.34}]
chr11 GH11I078573 78573568 78576044 2 [{'connected_gene': 'NARS2', 'score': 588.63}, {'connected_gene': 'AAMDC', 'score': 6.27}, {'connected_gene': 'LOC101928896', 'score': 0.26}]
chr11 GH11I078044 78044188 78046924 1.95 [{'connected_gene': 'KCTD14', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 45.94}, {'connected_gene': 'INTS4', 'score': 10.57}, {'connected_gene': 'NDUFC2', 'score': 7.78}, {'connected_gene': 'ALG8', 'score': 5.99}, {'connected_gene': 'AAMDC', 'score': 4.98}, {'connected_gene': 'ENSG00000254675', 'score': 0.34}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.29}]
chr11 GH11I077570 77570716 77573189 0.2 [{'connected_gene': 'LOC646029', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 12.65}, {'connected_gene': 'CLNS1A', 'score': 12.39}, {'connected_gene': 'AAMDC', 'score': 12.31}, {'connected_gene': 'AQP11', 'score': 8.52}, {'connected_gene': 'PAK1', 'score': 7.75}, {'connected_gene': 'MYO7A', 'score': 4.71}, {'connected_gene': 'GC11M077568', 'score': 0.34}]
chr11 GH11I077788 77788794 77789743 0.31 [{'connected_gene': 'AAMDC', 'score': 14.23}, {'connected_gene': 'INTS4', 'score': 10.32}, {'connected_gene': 'GC11P077793', 'score': 0.77}, {'connected_gene': 'RSF1', 'score': 0.29}, {'connected_gene': 'RSF1-IT1', 'score': 0.25}]
chr11 GH11I077929 77929955 77930735 0.65 [{'connected_gene': 'AAMDC', 'score': 17.59}, {'connected_gene': 'INTS4', 'score': 15.64}, {'connected_gene': 'AQP11', 'score': 7.65}, {'connected_gene': 'ENSG00000255115', 'score': 0.37}]
chr11 GH11I077669 77669784 77670910 0.67 [{'connected_gene': 'AAMDC', 'score': 14.47}, {'connected_gene': 'INTS4', 'score': 6.47}, {'connected_gene': 'GC11P077692', 'score': 0.34}, {'connected_gene': 'CLNS1A', 'score': 0.29}, {'connected_gene': 'RSF1', 'score': 0.1}]
chr11 GH11I077883 77883507 77885035 0.52 [{'connected_gene': 'AAMDC', 'score': 14.0}, {'connected_gene': 'INTS4', 'score': 7.85}, {'connected_gene': 'PIR41602', 'score': 0.44}, {'connected_gene': 'PIR57546', 'score': 0.44}]
chr11 GH11I077818 77818848 77824458 2.29 [{'connected_gene': 'AAMDC', 'score': 566.19}, {'connected_gene': 'RSF1', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 42.95}, {'connected_gene': 'RPL21P95', 'score': 16.86}, {'connected_gene': 'ENSG00000255449', 'score': 14.25}, {'connected_gene': 'LOC101928865', 'score': 13.52}, {'connected_gene': 'AQP11', 'score': 6.39}, {'connected_gene': 'ENSG00000254691', 'score': 0.31}]
chr11 GH11I077085 77085606 77089796 1.19 [{'connected_gene': 'AAMDC', 'score': 4.97}, {'connected_gene': 'NDUFC2', 'score': 4.26}, {'connected_gene': 'OMP', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077601 77601447 77604105 0.92 [{'connected_gene': 'AAMDC', 'score': 13.54}, {'connected_gene': 'CLNS1A', 'score': 12.55}, {'connected_gene': 'MYO7A', 'score': 10.39}, {'connected_gene': 'AQP11', 'score': 8.52}, {'connected_gene': 'GC11M077568', 'score': 0.44}, {'connected_gene': 'GC11P077625', 'score': 0.34}]
chr11 GH11I077877 77877759 77879739 0.63 [{'connected_gene': 'AAMDC', 'score': 16.12}, {'connected_gene': 'RPL21P95', 'score': 12.56}, {'connected_gene': 'INTS4', 'score': 10.3}, {'connected_gene': 'KCTD21-AS1', 'score': 4.71}, {'connected_gene': 'PIR57546', 'score': 0.77}, {'connected_gene': 'PIR41602', 'score': 0.39}]
chr11 GH11I077557 77557494 77562242 1.02 [{'connected_gene': 'AQP11', 'score': 11.1}, {'connected_gene': 'MYO7A', 'score': 10.51}, {'connected_gene': 'AAMDC', 'score': 7.8}, {'connected_gene': 'INTS4', 'score': 5.8}, {'connected_gene': 'CLNS1A', 'score': 4.72}, {'connected_gene': 'GC11M077551', 'score': 0.44}, {'connected_gene': 'GC11M077567', 'score': 0.44}]
chr11 GH11I077588 77588407 77592376 2.2 [{'connected_gene': 'AQP11', 'score': 558.55}, {'connected_gene': 'AAMDC', 'score': 13.52}, {'connected_gene': 'CLNS1A', 'score': 11.9}, {'connected_gene': 'INTS4', 'score': 9.84}, {'connected_gene': 'GDPD4', 'score': 9.73}, {'connected_gene': 'GC11M077568', 'score': 0.44}]
chr11 GH11I077636 77636239 77638593 2.08 [{'connected_gene': 'CLNS1A', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 55.45}, {'connected_gene': 'RPL21P95', 'score': 40.14}, {'connected_gene': 'LOC101928865', 'score': 36.05}, {'connected_gene': 'ENSG00000255449', 'score': 26.18}, {'connected_gene': 'AAMDC', 'score': 12.31}, {'connected_gene': 'RSF1', 'score': 10.07}, {'connected_gene': 'GC11P077629', 'score': 0.44}, {'connected_gene': 'GC11P077625', 'score': 0.39}]
chr11 GH11I078082 78082998 78087573 0.87 [{'connected_gene': 'KCTD21-AS1', 'score': 68.84}, {'connected_gene': 'THRSP', 'score': 10.99}, {'connected_gene': 'KCTD14', 'score': 10.98}, {'connected_gene': 'ENSG00000254829', 'score': 10.43}, {'connected_gene': 'INTS4', 'score': 9.94}, {'connected_gene': 'NDUFC2', 'score': 9.3}, {'connected_gene': 'ALG8', 'score': 6.07}, {'connected_gene': 'AAMDC', 'score': 5.0}, {'connected_gene': 'LOC105369401', 'score': 0.77}, {'connected_gene': 'GC11P078094', 'score': 0.44}]
chr11 GH11I077568 77568123 77569594 0.2 [{'connected_gene': 'RNU7-59P', 'score': 550.77}, {'connected_gene': 'GC11M077567', 'score': 550.77}, {'connected_gene': 'AAMDC', 'score': 12.25}, {'connected_gene': 'LOC646029', 'score': 0.77}, {'connected_gene': 'GC11M077568', 'score': 0.31}, {'connected_gene': 'CLNS1A', 'score': 0.2}]
chr11 GH11I077912 77912750 77915712 0.94 [{'connected_gene': 'ENSG00000255115', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 5.14}, {'connected_gene': 'GC11M077891', 'score': 0.34}, {'connected_gene': 'AAMDC', 'score': 0.16}]
chr11 GH11I077890 77890515 77891691 0.49 [{'connected_gene': 'PIR41602', 'score': 550.77}, {'connected_gene': 'GC11M077891', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 10.5}, {'connected_gene': 'AQP11', 'score': 6.58}, {'connected_gene': 'PIR57546', 'score': 0.37}, {'connected_gene': 'AAMDC', 'score': 0.2}]
chr11 GH11I078277 78277196 78278384 0.79 [{'connected_gene': 'ENSG00000254649', 'score': 11.15}, {'connected_gene': 'NARS2', 'score': 9.77}, {'connected_gene': 'AAMDC', 'score': 4.33}, {'connected_gene': 'LOC105369402', 'score': 0.37}, {'connected_gene': 'PIR56737', 'score': 0.31}, {'connected_gene': 'GAB2', 'score': 0.11}]
chr11 GH11I078168 78168184 78171220 1.24 [{'connected_gene': 'PIR40351', 'score': 550.77}, {'connected_gene': 'NDUFC2', 'score': 10.66}, {'connected_gene': 'THRSP', 'score': 9.87}, {'connected_gene': 'KCTD21', 'score': 8.38}, {'connected_gene': 'KCTD21-AS1', 'score': 6.3}, {'connected_gene': 'AAMDC', 'score': 5.12}, {'connected_gene': 'GC11M078165', 'score': 0.77}]
chr11 GH11I077876 77876255 77876404 0.2 [{'connected_gene': 'PIR57546', 'score': 550.77}, {'connected_gene': 'PIR41602', 'score': 0.39}, {'connected_gene': 'AAMDC', 'score': 0.22}]
chr11 GH11I077878 77876867 77877173 0.2 [{'connected_gene': 'PIR57546', 'score': 550.77}, {'connected_gene': 'AAMDC', 'score': 6.21}, {'connected_gene': 'PIR41602', 'score': 0.39}]

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