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
ENST00000407991 [[27317278, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328711], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328575]]
ENST00000520933 [[27317294, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328729]] [[27319145, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328575]]
ENST00000520600 [[27318092, 27319271], [27324745, 27325034]] None
ENST00000523529 [[27318614, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327548], [27328502, 27328700]] None
ENST00000523695 [[27318614, 27319271], [27320495, 27321377], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328711], [27336340, 27336731]] [[27321361, 27321377], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328575]]
ENST00000240132 [[27319119, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327322, 27327498], [27328502, 27328711], [27336340, 27336778]] [[27319145, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327322, 27327498], [27328502, 27328575]]
ENST00000522008 [[27321144, 27321505], [27324745, 27324855], [27326851, 27326925]] None
ENST00000524096 [[27326865, 27326896], [27327277, 27327498], [27328502, 27328711], [27337285, 27337400]] [[27326865, 27326896], [27327277, 27327498], [27328502, 27328575]]
ENST00000518712 [[27327328, 27327498], [27328502, 27328711], [27334684, 27334745], [27336340, 27336446]] [[27327328, 27327498], [27328502, 27328575]]
ENST00000520650 [[27327348, 27327548], [27328502, 27328711], [27336340, 27336530]] None
ENST00000521921 [[27327421, 27327498], [27328502, 27328711], [27332729, 27333019]] [[27327421, 27327498], [27328502, 27328575]]
ENST00000520208 [[27328518, 27328711], [27332729, 27332789], [27336340, 27336576], [27337285, 27337374]] [[27328518, 27328575]]
NM_001347707 [[27317277, 27319271], [27320495, 27321374], [27324745, 27324855], [27326851, 27326896], [27327322, 27327498], [27328502, 27328711], [27332729, 27332789], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321365]]
NM_000742 [[27317277, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328711], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328575]]
NM_001347706 [[27317277, 27319271], [27320495, 27321505], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328711], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321482]]
NM_001347708 [[27317277, 27319271], [27320495, 27321377], [27324745, 27324855], [27326851, 27326896], [27327277, 27327498], [27328502, 27328711], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321365]]
NM_001282455 [[27317277, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327322, 27327498], [27328502, 27328711], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321510], [27324745, 27324855], [27326851, 27326896], [27327322, 27327498], [27328502, 27328575]]
NM_001347705 [[27317277, 27319271], [27320495, 27321505], [27324745, 27324855], [27326851, 27326896], [27327322, 27327498], [27328502, 27328711], [27336340, 27336813]] [[27319145, 27319271], [27320495, 27321482]]
Promoter
Chrom Start End Description
chr8 27336675 27336693 CAGE_peak_3_at_CHRNA2_5end
chr8 27336724 27336740 CAGE_peak_2_at_CHRNA2_5end
chr8 27336747 27336786 CAGE_peak_1_at_CHRNA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I027295 27295992 27297582 0.58 [{'connected_gene': 'STMN4', 'score': 10.98}, {'connected_gene': 'PTK2B', 'score': 6.24}, {'connected_gene': 'CHRNA2', 'score': 4.86}, {'connected_gene': 'TRIM35', 'score': 0.39}, {'connected_gene': 'PIR41134', 'score': 0.39}]
chr8 GH08I027386 27386155 27392104 1.32 [{'connected_gene': 'CCDC25', 'score': 20.51}, {'connected_gene': 'EPHX2', 'score': 15.58}, {'connected_gene': 'PTK2B', 'score': 11.22}, {'connected_gene': 'CHRNA2', 'score': 10.17}, {'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'MIR6842', 'score': 0.26}]
chr8 GH08I027602 27602144 27604630 1.22 [{'connected_gene': 'CCDC25', 'score': 20.23}, {'connected_gene': 'ENSG00000253875', 'score': 15.11}, {'connected_gene': 'EPHX2', 'score': 11.31}, {'connected_gene': 'CHRNA2', 'score': 11.31}, {'connected_gene': 'ELP3', 'score': 9.89}, {'connected_gene': 'ESCO2', 'score': 9.85}, {'connected_gene': 'RNU6-1276P', 'score': 9.85}, {'connected_gene': 'GULOP', 'score': 6.95}, {'connected_gene': 'MIR6843', 'score': 0.44}, {'connected_gene': 'CLU', 'score': 0.39}]
chr8 GH08I027600 27600504 27600653 0.99 [{'connected_gene': 'ELP3', 'score': 12.36}, {'connected_gene': 'EPHX2', 'score': 10.92}, {'connected_gene': 'CHRNA2', 'score': 10.9}, {'connected_gene': 'GULOP', 'score': 6.97}, {'connected_gene': 'CLU', 'score': 0.39}, {'connected_gene': 'MIR6843', 'score': 0.39}]
chr8 GH08I027635 27635763 27638474 1.1 [{'connected_gene': 'SCARA3', 'score': 15.62}, {'connected_gene': 'CLU', 'score': 5.14}, {'connected_gene': 'STMN4', 'score': 3.18}, {'connected_gene': 'CHRNA2', 'score': 1.69}, {'connected_gene': 'RNU6-1086P', 'score': 0.26}]
chr8 GH08I027308 27308366 27313009 2.26 [{'connected_gene': 'TRIM35', 'score': 560.18}, {'connected_gene': 'PTK2B', 'score': 550.77}, {'connected_gene': 'ELP3', 'score': 9.75}, {'connected_gene': 'CHRNA2', 'score': 4.94}, {'connected_gene': 'EPHX2', 'score': 4.35}, {'connected_gene': 'PIR41134', 'score': 0.34}]
chr8 GH08I027413 27413158 27413955 0.51 [{'connected_gene': 'TRIM35', 'score': 12.45}, {'connected_gene': 'PTK2B', 'score': 12.45}, {'connected_gene': 'CHRNA2', 'score': 11.02}, {'connected_gene': 'EPHX2', 'score': 11.0}, {'connected_gene': 'CLU', 'score': 10.47}, {'connected_gene': 'MIR6842', 'score': 0.37}]
chr8 GH08I027314 27314904 27316172 1.41 [{'connected_gene': 'TRIM35', 'score': 10.17}, {'connected_gene': 'CHRNA2', 'score': 4.93}, {'connected_gene': 'PTK2B', 'score': 0.77}, {'connected_gene': 'MIR6842', 'score': 0.13}]
chr8 GH08I027330 27330578 27336820 1.71 [{'connected_gene': 'PTK2B', 'score': 25.74}, {'connected_gene': 'TRIM35', 'score': 21.61}, {'connected_gene': 'EPHX2', 'score': 17.42}, {'connected_gene': 'CLU', 'score': 9.88}, {'connected_gene': 'CHRNA2', 'score': 9.86}, {'connected_gene': 'MIR6842', 'score': 0.15}]
chr8 GH08I027414 27414938 27425193 0.65 [{'connected_gene': 'PTK2B', 'score': 22.81}, {'connected_gene': 'TRIM35', 'score': 12.45}, {'connected_gene': 'EPHX2', 'score': 11.3}, {'connected_gene': 'CHRNA2', 'score': 11.04}, {'connected_gene': 'CLU', 'score': 10.47}, {'connected_gene': 'LOC105379337', 'score': 9.68}, {'connected_gene': 'MIR6842', 'score': 0.39}]
chr8 GH08I027339 27339169 27343800 1.35 [{'connected_gene': 'PTK2B', 'score': 14.37}, {'connected_gene': 'CHRNA2', 'score': 9.87}, {'connected_gene': 'EPHX2', 'score': 9.86}, {'connected_gene': 'MIR6842', 'score': 0.16}]
chr8 GH08I027321 27321933 27324383 1.11 [{'connected_gene': 'EPHX2', 'score': 11.02}, {'connected_gene': 'CLU', 'score': 10.37}, {'connected_gene': 'CHRNA2', 'score': 10.34}, {'connected_gene': 'TRIM35', 'score': 7.9}, {'connected_gene': 'PTK2B', 'score': 0.39}, {'connected_gene': 'MIR6842', 'score': 0.14}]
chr8 GH08I027557 27557481 27558989 0.2 [{'connected_gene': 'EPHX2', 'score': 11.57}, {'connected_gene': 'CHRNA2', 'score': 11.55}, {'connected_gene': 'GULOP', 'score': 6.85}, {'connected_gene': 'GC08M027545', 'score': 0.44}]
chr8 GH08I027440 27440103 27441222 0.82 [{'connected_gene': 'EPHX2', 'score': 4.86}, {'connected_gene': 'PIR51886', 'score': 0.77}, {'connected_gene': 'GC08P027438', 'score': 0.77}, {'connected_gene': 'CHRNA2', 'score': 0.28}, {'connected_gene': 'PTK2B', 'score': 0.13}]
chr8 GH08I027529 27529887 27530083 0.24 [{'connected_gene': 'EPHX2', 'score': 14.56}, {'connected_gene': 'CHRNA2', 'score': 10.98}, {'connected_gene': 'CLU', 'score': 10.43}, {'connected_gene': 'PTK2B', 'score': 1.85}, {'connected_gene': 'GC08M027523', 'score': 0.44}, {'connected_gene': 'GC08M027545', 'score': 0.34}]
chr8 GH08I027598 27598624 27598773 0.72 [{'connected_gene': 'EPHX2', 'score': 10.92}, {'connected_gene': 'CHRNA2', 'score': 10.9}, {'connected_gene': 'CLU', 'score': 5.47}, {'connected_gene': 'MIR6843', 'score': 0.39}, {'connected_gene': 'GULOP', 'score': 0.28}]
chr8 GH08I027514 27514211 27516014 0.54 [{'connected_gene': 'EPHX2', 'score': 44.98}, {'connected_gene': 'CHRNA2', 'score': 12.42}, {'connected_gene': 'CLU', 'score': 10.38}, {'connected_gene': 'PIR35170', 'score': 0.77}, {'connected_gene': 'GC08M027523', 'score': 0.44}]
chr8 GH08I027599 27599207 27600275 0.38 [{'connected_gene': 'EPHX2', 'score': 10.92}, {'connected_gene': 'CHRNA2', 'score': 10.9}, {'connected_gene': 'MIR6843', 'score': 0.39}, {'connected_gene': 'CLU', 'score': 0.37}, {'connected_gene': 'GULOP', 'score': 0.28}]
chr8 GH08I027597 27597855 27597893 0.31 [{'connected_gene': 'EPHX2', 'score': 10.92}, {'connected_gene': 'CHRNA2', 'score': 10.9}, {'connected_gene': 'MIR6843', 'score': 0.39}, {'connected_gene': 'CLU', 'score': 0.37}, {'connected_gene': 'GULOP', 'score': 0.28}]
chr8 GH08I027487 27487087 27495202 2.23 [{'connected_gene': 'EPHX2', 'score': 590.15}, {'connected_gene': 'CHRNA2', 'score': 6.71}, {'connected_gene': 'PIR35170', 'score': 0.34}]
chr8 GH08I027671 27671899 27674308 0.31 [{'connected_gene': 'CLU', 'score': 10.94}, {'connected_gene': 'ENSG00000253875', 'score': 10.85}, {'connected_gene': 'CCDC25', 'score': 10.71}, {'connected_gene': 'EPHX2', 'score': 10.34}, {'connected_gene': 'CHRNA2', 'score': 10.34}, {'connected_gene': 'SCARA3', 'score': 4.87}, {'connected_gene': 'RNU6-1086P', 'score': 0.44}]
chr8 GH08I027479 27479249 27479308 0.87 [{'connected_gene': 'CHRNA2', 'score': 550.77}, {'connected_gene': 'ZNF395', 'score': 12.86}, {'connected_gene': 'PIR51886', 'score': 0.26}, {'connected_gene': 'GC08P027438', 'score': 0.26}]
chr8 GH08I027583 27583069 27585667 1.13 [{'connected_gene': 'CHRNA2', 'score': 7.17}, {'connected_gene': 'GULOP', 'score': 5.65}, {'connected_gene': 'MIR6843', 'score': 0.31}]
chr8 GH08I027594 27594331 27597413 1.05 [{'connected_gene': 'CHRNA2', 'score': 17.83}, {'connected_gene': 'EPHX2', 'score': 11.53}, {'connected_gene': 'GULOP', 'score': 5.54}, {'connected_gene': 'MIR6843', 'score': 0.39}, {'connected_gene': 'CLU', 'score': 0.37}]
chr8 GH08I027337 27337006 27338400 0.51 [{'connected_gene': 'CHRNA2', 'score': 9.86}, {'connected_gene': 'EPHX2', 'score': 9.85}, {'connected_gene': 'PTK2B', 'score': 7.28}, {'connected_gene': 'MIR6842', 'score': 0.15}]
chr8 GH08I027392 27392277 27395988 1.25 [{'connected_gene': 'CHRNA2', 'score': 9.53}, {'connected_gene': 'EPHX2', 'score': 9.51}, {'connected_gene': 'PTK2B', 'score': 8.01}, {'connected_gene': 'MIR6842', 'score': 0.28}]
chr8 GH08I027317 27317546 27317931 0.4 [{'connected_gene': 'CHRNA2', 'score': 10.27}, {'connected_gene': 'EPHX2', 'score': 10.27}, {'connected_gene': 'CLU', 'score': 9.94}, {'connected_gene': 'TRIM35', 'score': 9.63}, {'connected_gene': 'PTK2B', 'score': 0.44}, {'connected_gene': 'MIR6842', 'score': 0.13}]
chr8 GH08I027319 27319779 27320473 0.74 [{'connected_gene': 'CHRNA2', 'score': 10.28}, {'connected_gene': 'EPHX2', 'score': 10.27}, {'connected_gene': 'CLU', 'score': 9.94}, {'connected_gene': 'PTK2B', 'score': 0.44}, {'connected_gene': 'MIR6842', 'score': 0.14}]
chr8 GH08I027318 27318201 27318400 0.31 [{'connected_gene': 'CHRNA2', 'score': 10.27}, {'connected_gene': 'EPHX2', 'score': 10.27}, {'connected_gene': 'CLU', 'score': 9.94}, {'connected_gene': 'PTK2B', 'score': 0.44}, {'connected_gene': 'MIR6842', 'score': 0.13}]
chr8 GH08I027426 27426264 27426433 0.97 [{'connected_gene': 'CHRNA2', 'score': 11.0}, {'connected_gene': 'EPHX2', 'score': 10.97}, {'connected_gene': 'MIR6842', 'score': 0.44}, {'connected_gene': 'PTK2B', 'score': 0.14}]
chr8 GH08I027465 27465651 27466800 0.95 [{'connected_gene': 'CHRNA2', 'score': 0.39}, {'connected_gene': 'PIR51886', 'score': 0.31}, {'connected_gene': 'GC08P027438', 'score': 0.31}]
chr8 GH08I027478 27478929 27478988 0.5 [{'connected_gene': 'CHRNA2', 'score': 550.77}, {'connected_gene': 'PIR51886', 'score': 0.26}, {'connected_gene': 'GC08P027438', 'score': 0.26}]
chr8 GH08I027653 27653584 27653733 0.46 [{'connected_gene': 'RNU6-1086P', 'score': 11.43}, {'connected_gene': 'CLU', 'score': 11.27}, {'connected_gene': 'CCDC25', 'score': 10.4}, {'connected_gene': 'EPHX2', 'score': 10.21}, {'connected_gene': 'CHRNA2', 'score': 10.2}, {'connected_gene': 'SCARA3', 'score': 5.23}]

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