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
ENST00000540367 [[68522087, 68522319], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582971]] [[68522283, 68522319], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582942]]
ENST00000376618 [[68522089, 68522319], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582955], [68609242, 68609399]] [[68522283, 68522319], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582942]]
ENST00000265641 [[68522356, 68525198], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582955], [68609242, 68609384]] [[68525111, 68525198], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582942]]
ENST00000539743 [[68525080, 68525198], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582971]] [[68525111, 68525198], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582942]]
ENST00000537756 [[68530094, 68530229], [68540732, 68540897], [68541070, 68541355]] None
ENST00000538994 [[68553211, 68553503], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566736]] [[68553489, 68553503], [68560782, 68560870], [68562271, 68562379], [68564323, 68564350]]
ENST00000565318 [[68574983, 68575106], [68579904, 68580044], [68582801, 68582955], [68586066, 68586160]] [[68574983, 68575106], [68579904, 68580044], [68582801, 68582942]]
ENST00000569129 [[68575034, 68575106], [68579904, 68580044], [68582801, 68582955], [68607019, 68607152]] [[68575034, 68575106], [68579904, 68580044], [68582801, 68582942]]
ENST00000561996 [[68579905, 68580044], [68582801, 68582955], [68611612, 68611878]] [[68579905, 68580044], [68582801, 68582942]]
NM_001031847 [[68522087, 68522319], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582955], [68609242, 68609399]] [[68522283, 68522319], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582942]]
NM_001876 [[68522350, 68525198], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582955], [68609242, 68609399]] [[68525111, 68525198], [68527036, 68527129], [68527692, 68527806], [68529002, 68529155], [68530094, 68530229], [68540732, 68540897], [68542783, 68542900], [68548107, 68548213], [68549238, 68549427], [68552282, 68552478], [68560782, 68560870], [68562271, 68562379], [68564323, 68564401], [68566685, 68566823], [68571467, 68571569], [68574934, 68575106], [68579904, 68580044], [68582801, 68582942]]
Promoter
Chrom Start End Description
chr11 68524962 68524964 CAGE_peak_5_at_CPT1A_5end
chr11 68541324 68541336 CAGE_peak_6_at_CPT1A_5end
chr11 68541350 68541360 CAGE_peak_8_at_CPT1A_5end
chr11 68609300 68609356 CAGE_peak_1_at_CPT1A_5end
chr11 68609363 68609370 CAGE_peak_4_at_CPT1A_5end
chr11 68609377 68609398 CAGE_peak_2_at_CPT1A_5end
chr11 68609416 68609427 CAGE_peak_3_at_CPT1A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I068776 68776093 68776362 0.63 [{'connected_gene': 'TESMIN', 'score': 12.12}, {'connected_gene': 'GAL', 'score': 5.48}, {'connected_gene': 'PIR50743', 'score': 0.77}, {'connected_gene': 'GC11M068799', 'score': 0.34}, {'connected_gene': 'CPT1A', 'score': 0.2}]
chr11 GH11I068817 68816059 68816073 0.22 [{'connected_gene': 'TESMIN', 'score': 14.53}, {'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'GC11P068804', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I068807 68807314 68807875 0.43 [{'connected_gene': 'TESMIN', 'score': 10.91}, {'connected_gene': 'ALDH3B1', 'score': 4.34}, {'connected_gene': 'GC11P068804', 'score': 0.77}, {'connected_gene': 'CPT1A', 'score': 0.28}]
chr11 GH11I068780 68780973 68781142 0.66 [{'connected_gene': 'TESMIN', 'score': 11.84}, {'connected_gene': 'MRGPRF-AS1', 'score': 9.7}, {'connected_gene': 'MRGPRF', 'score': 9.7}, {'connected_gene': 'GAL', 'score': 8.52}, {'connected_gene': 'PIR50743', 'score': 0.44}, {'connected_gene': 'GC11M068799', 'score': 0.37}, {'connected_gene': 'CPT1A', 'score': 0.21}]
chr11 GH11I068763 68763353 68763502 0.77 [{'connected_gene': 'LRP5', 'score': 10.22}, {'connected_gene': 'IGHMBP2', 'score': 10.08}, {'connected_gene': 'MRPL21', 'score': 10.08}, {'connected_gene': 'PIR47748', 'score': 0.44}, {'connected_gene': 'PIR50743', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.18}]
chr11 GH11I068813 68813718 68814214 0.31 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.24}, {'connected_gene': 'GC11P068804', 'score': 0.44}, {'connected_gene': 'CPT1A', 'score': 0.29}]
chr11 GH11I068812 68812416 68813076 0.51 [{'connected_gene': 'IGHMBP2', 'score': 11.94}, {'connected_gene': 'MRPL21', 'score': 11.94}, {'connected_gene': 'TESMIN', 'score': 11.27}, {'connected_gene': 'GC11P068804', 'score': 0.44}, {'connected_gene': 'CPT1A', 'score': 0.29}]
chr11 GH11I068819 68819775 68820112 0.49 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.23}, {'connected_gene': 'GC11P068804', 'score': 0.37}, {'connected_gene': 'CPT1A', 'score': 0.34}]
chr11 GH11I068818 68817954 68818602 0.54 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.23}, {'connected_gene': 'GC11P068804', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I068816 68816933 68817684 0.9 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.23}, {'connected_gene': 'LOC105369364', 'score': 4.46}, {'connected_gene': 'GC11P068804', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I068835 68835403 68836550 0.89 [{'connected_gene': 'IGHMBP2', 'score': 58.09}, {'connected_gene': 'CPT1A', 'score': 0.44}, {'connected_gene': 'GC11P068804', 'score': 0.29}]
chr11 GH11I068825 68825142 68826434 1.02 [{'connected_gene': 'IGHMBP2', 'score': 51.72}, {'connected_gene': 'CPT1A', 'score': 0.37}, {'connected_gene': 'GC11P068804', 'score': 0.34}]
chr11 GH11I068826 68826616 68827510 0.2 [{'connected_gene': 'IGHMBP2', 'score': 35.14}, {'connected_gene': 'CPT1A', 'score': 0.37}, {'connected_gene': 'GC11P068804', 'score': 0.34}]
chr11 GH11I068833 68833605 68834230 0.31 [{'connected_gene': 'IGHMBP2', 'score': 53.88}, {'connected_gene': 'CPT1A', 'score': 0.39}, {'connected_gene': 'GC11P068804', 'score': 0.31}]
chr11 GH11I068854 68854255 68858762 1.64 [{'connected_gene': 'IGHMBP2', 'score': 79.48}, {'connected_gene': 'LOC105369364', 'score': 20.69}, {'connected_gene': 'TESMIN', 'score': 12.29}, {'connected_gene': 'MRPL21', 'score': 11.56}, {'connected_gene': 'CPT1A', 'score': 1.94}]
chr11 GH11I068862 68862237 68863028 0.31 [{'connected_gene': 'IGHMBP2', 'score': 82.95}, {'connected_gene': 'LOC105369364', 'score': 21.45}, {'connected_gene': 'MRPL21', 'score': 11.58}, {'connected_gene': 'TESMIN', 'score': 10.98}, {'connected_gene': 'CPT1A', 'score': 0.37}]
chr11 GH11I068827 68827801 68829800 1 [{'connected_gene': 'IGHMBP2', 'score': 55.72}, {'connected_gene': 'LOC105369364', 'score': 4.81}, {'connected_gene': 'CPT1A', 'score': 2.4}, {'connected_gene': 'TESMIN', 'score': 1.89}, {'connected_gene': 'GC11P068804', 'score': 0.34}]
chr11 GH11I068830 68830358 68833322 1.04 [{'connected_gene': 'IGHMBP2', 'score': 53.39}, {'connected_gene': 'LOC105369364', 'score': 4.73}, {'connected_gene': 'CPT1A', 'score': 0.39}, {'connected_gene': 'GC11P068804', 'score': 0.31}]
chr11 GH11I068810 68810139 68810795 0.43 [{'connected_gene': 'MRPL21', 'score': 15.72}, {'connected_gene': 'IGHMBP2', 'score': 10.59}, {'connected_gene': 'GC11P068804', 'score': 0.44}, {'connected_gene': 'CPT1A', 'score': 0.29}]
chr11 GH11I068836 68836688 68844800 2.29 [{'connected_gene': 'CPT1A', 'score': 550.77}, {'connected_gene': 'IGHMBP2', 'score': 68.29}, {'connected_gene': 'PPP6R3', 'score': 24.5}, {'connected_gene': 'MRGPRF-AS1', 'score': 17.54}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'ENSG00000261625', 'score': 15.99}, {'connected_gene': 'ORAOV1', 'score': 15.6}, {'connected_gene': 'MRGPRF', 'score': 14.26}, {'connected_gene': 'ENSG00000260808', 'score': 11.15}, {'connected_gene': 'TPCN2', 'score': 10.64}, {'connected_gene': 'MRPL21', 'score': 4.84}, {'connected_gene': 'GC11P068804', 'score': 0.28}]
chr11 GH11I068844 68844852 68845528 0.93 [{'connected_gene': 'CPT1A', 'score': 550.77}, {'connected_gene': 'IGHMBP2', 'score': 33.23}, {'connected_gene': 'LOC105369364', 'score': 0.31}]
chr11 GH11I068847 68847801 68848069 0.38 [{'connected_gene': 'CPT1A', 'score': 0.77}, {'connected_gene': 'LOC105369364', 'score': 0.34}]
chr11 GH11I068869 68869753 68870801 1.45 [{'connected_gene': 'LOC105369364', 'score': 570.86}, {'connected_gene': 'IGHMBP2', 'score': 79.49}, {'connected_gene': 'MRPL21', 'score': 11.89}, {'connected_gene': 'TESMIN', 'score': 11.1}, {'connected_gene': 'MRGPRF-AS1', 'score': 10.67}, {'connected_gene': 'MRGPRF', 'score': 10.67}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I068798 68798333 68798522 0.57 [{'connected_gene': 'GC11M068799', 'score': 550.77}, {'connected_gene': 'TESMIN', 'score': 15.63}, {'connected_gene': 'GAL', 'score': 6.69}, {'connected_gene': 'PIR50743', 'score': 0.34}, {'connected_gene': 'CPT1A', 'score': 0.25}]
chr11 GH11I068804 68804638 68805085 0.46 [{'connected_gene': 'GC11P068804', 'score': 550.77}, {'connected_gene': 'TESMIN', 'score': 10.92}, {'connected_gene': 'CPT1A', 'score': 0.28}]

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