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
ENST00000469139 [[49506145, 49506488], [49547851, 49548069]] None
ENST00000515359 [[49506145, 49506488], [49547851, 49548252], [49568229, 49573048]] [[49547967, 49548252], [49568229, 49570632]]
ENST00000421560 [[49507564, 49507707], [49547851, 49548252], [49568229, 49568264]] [[49547967, 49548252], [49568229, 49568264]]
ENST00000308775 [[49507564, 49507866], [49547851, 49548252], [49568229, 49573044]] [[49547967, 49548252], [49568229, 49570632]]
ENST00000545947 [[49507564, 49507866], [49508397, 49508482], [49514281, 49514338], [49524686, 49524848], [49547851, 49548252], [49568229, 49573048]] [[49547967, 49548252], [49568229, 49570632]]
ENST00000541308 [[49507564, 49507866], [49530255, 49530406], [49547851, 49548252], [49568229, 49573048]] [[49547967, 49548252], [49568229, 49570632]]
ENST00000539901 [[49507564, 49508006], [49547851, 49548252], [49568229, 49573048]] [[49547967, 49548252], [49568229, 49570632]]
ENST00000538711 [[49507564, 49507866], [49514281, 49514338], [49547851, 49548252], [49568229, 49573048]] [[49547967, 49548252], [49568229, 49570632]]
ENST00000418588 [[49507568, 49507866], [49514281, 49514333], [49547851, 49548232]] [[49547967, 49548232]]
ENST00000431960 [[49507679, 49507707], [49514281, 49514333], [49547851, 49548252], [49568229, 49568297]] [[49547967, 49548252], [49568229, 49568297]]
ENST00000452317 [[49507709, 49507866], [49530255, 49530406], [49547851, 49548090]] [[49547967, 49548090]]
ENST00000435508 [[49507709, 49507866], [49526058, 49526178], [49547851, 49548198]] [[49547967, 49548124]]
ENST00000452060 [[49507711, 49507866], [49514281, 49514338], [49547851, 49548227]] [[49547967, 49548227]]
ENST00000466701 [[49507721, 49507866], [49530259, 49530406], [49547851, 49547923]] None
ENST00000428779 [[49507732, 49507866], [49508397, 49508482], [49514281, 49514338], [49524686, 49524848], [49547851, 49548254]] [[49547967, 49548254]]
ENST00000461492 [[49507738, 49507866], [49547851, 49547888], [49568229, 49568644]] None
ENST00000419218 [[49507748, 49507866], [49524686, 49524848], [49526058, 49526178], [49547851, 49548013]] [[49547967, 49548013]]
ENST00000430636 [[49507751, 49508006], [49547851, 49547993]] [[49547967, 49547993]]
ENST00000496474 [[49507786, 49507866], [49524686, 49524848], [49526130, 49526178], [49530255, 49530406], [49547851, 49547949]] None
ENST00000475424 [[49530148, 49530406], [49547851, 49548174]] None
ENST00000461987 [[49507734, 49507866], [49514281, 49514333], [49524660, 49524848]] None
ENST00000479935 [[49547656, 49548252], [49568229, 49568344]] None
NM_001177643 [[49506135, 49506488], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177639 [[49507564, 49507707], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177635 [[49507564, 49507707], [49514281, 49514333], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_004393 [[49507564, 49507866], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177641 [[49507564, 49507866], [49530259, 49530406], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177638 [[49507564, 49507866], [49530255, 49530406], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177637 [[49507564, 49507866], [49526058, 49526178], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001165928 [[49507564, 49507866], [49524686, 49524848], [49526130, 49526178], [49530255, 49530406], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177636 [[49507564, 49507866], [49524686, 49524848], [49526058, 49526178], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177642 [[49507564, 49507866], [49514281, 49514333], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177640 [[49507564, 49507866], [49514281, 49514338], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177634 [[49507564, 49507866], [49508397, 49508482], [49514281, 49514338], [49524686, 49524848], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
NM_001177644 [[49507564, 49508006], [49547851, 49548252], [49568229, 49573051]] [[49547967, 49548252], [49568229, 49570632]]
Promoter
Chrom Start End Description
chr3 49506374 49506387 CAGE_peak_15_at_DAG1_5end
chr3 49507559 49507580 CAGE_peak_2_at_DAG1_5end
chr3 49507588 49507599 CAGE_peak_4_at_DAG1_5end
chr3 49507674 49507758 CAGE_peak_1_at_DAG1_5end
chr3 49507771 49507781 CAGE_peak_10_at_DAG1_5end
chr3 49568357 49568377 CAGE_peak_5_at_DAG1_5end
chr3 49568788 49568803 CAGE_peak_3_at_DAG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049508 49508915 49509611 0.65 [{'connected_gene': 'BSN', 'score': 11.38}, {'connected_gene': 'RNA5SP130', 'score': 11.29}, {'connected_gene': 'DAG1', 'score': 11.29}, {'connected_gene': 'BSN-AS1', 'score': 11.25}, {'connected_gene': 'BSN-AS2', 'score': 11.15}, {'connected_gene': 'LAMB2', 'score': 10.18}, {'connected_gene': 'MST1', 'score': 3.72}, {'connected_gene': 'PIR41851', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.17}]
chr3 GH03I049490 49490534 49491399 0.2 [{'connected_gene': 'BSN', 'score': 10.54}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'BSN-AS2', 'score': 10.4}, {'connected_gene': 'DAG1', 'score': 0.34}, {'connected_gene': 'PIR41851', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.2}]
chr3 GH03I049489 49489675 49490146 0.2 [{'connected_gene': 'BSN', 'score': 10.54}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'BSN-AS2', 'score': 10.4}, {'connected_gene': 'DAG1', 'score': 0.34}, {'connected_gene': 'PIR41851', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.2}]
chr3 GH03I049491 49489227 49489621 0.38 [{'connected_gene': 'BSN', 'score': 10.53}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'BSN-AS2', 'score': 10.4}, {'connected_gene': 'DAG1', 'score': 0.34}, {'connected_gene': 'PIR41851', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.2}]
chr3 GH03I049520 49519468 49519617 0.51 [{'connected_gene': 'BSN', 'score': 11.71}, {'connected_gene': 'BSN-AS2', 'score': 11.71}, {'connected_gene': 'BSN-AS1', 'score': 11.01}, {'connected_gene': 'APEH', 'score': 10.89}, {'connected_gene': 'PIR41851', 'score': 0.39}, {'connected_gene': 'DAG1', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.15}]
chr3 GH03I049524 49524228 49524377 0.58 [{'connected_gene': 'BSN', 'score': 11.71}, {'connected_gene': 'BSN-AS2', 'score': 11.71}, {'connected_gene': 'BSN-AS1', 'score': 11.01}, {'connected_gene': 'APEH', 'score': 10.9}, {'connected_gene': 'PIR41851', 'score': 0.44}, {'connected_gene': 'DAG1', 'score': 0.22}, {'connected_gene': 'GC03P049421', 'score': 0.15}]
chr3 GH03I050297 50297685 50304145 2.28 [{'connected_gene': 'HYAL3', 'score': 570.09}, {'connected_gene': 'HYAL1', 'score': 558.67}, {'connected_gene': 'NAT6', 'score': 556.18}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.28}, {'connected_gene': 'RBM5', 'score': 11.87}, {'connected_gene': 'TMEM115', 'score': 11.8}, {'connected_gene': 'CYB561D2', 'score': 11.63}, {'connected_gene': 'AMT', 'score': 7.65}, {'connected_gene': 'DAG1', 'score': 5.8}, {'connected_gene': 'RNF123', 'score': 4.33}]
chr3 GH03I049519 49519800 49520891 0.7 [{'connected_gene': 'IP6K2', 'score': 11.88}, {'connected_gene': 'BSN', 'score': 11.71}, {'connected_gene': 'BSN-AS2', 'score': 11.71}, {'connected_gene': 'BSN-AS1', 'score': 11.01}, {'connected_gene': 'APEH', 'score': 10.89}, {'connected_gene': 'PIR41851', 'score': 0.39}, {'connected_gene': 'DAG1', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.15}]
chr3 GH03I049477 49476201 49476600 0.62 [{'connected_gene': 'FAM212A', 'score': 11.73}, {'connected_gene': 'DAG1', 'score': 0.44}, {'connected_gene': 'PIR41851', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.22}]
chr3 GH03I049409 49409349 49418264 2.46 [{'connected_gene': 'RHOA', 'score': 550.77}, {'connected_gene': 'TCTA', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.15}, {'connected_gene': 'CCDC71', 'score': 22.23}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.38}, {'connected_gene': 'QRICH1', 'score': 12.91}, {'connected_gene': 'FAM212A', 'score': 11.87}, {'connected_gene': 'RBM5', 'score': 11.82}, {'connected_gene': 'RNA5SP130', 'score': 11.64}, {'connected_gene': 'DAG1', 'score': 11.64}, {'connected_gene': 'TMEM115', 'score': 11.6}, {'connected_gene': 'USP4', 'score': 11.39}, {'connected_gene': 'KLHDC8B', 'score': 10.49}, {'connected_gene': 'C3orf62', 'score': 10.38}, {'connected_gene': 'LAMB2', 'score': 9.92}, {'connected_gene': 'APEH', 'score': 7.28}, {'connected_gene': 'NICN1', 'score': 6.0}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.37}]
chr3 GH03I049533 49533834 49537657 1.15 [{'connected_gene': 'AMT', 'score': 44.85}, {'connected_gene': 'FAM212A', 'score': 11.7}, {'connected_gene': 'PIR41851', 'score': 0.77}, {'connected_gene': 'BSN-AS2', 'score': 0.37}, {'connected_gene': 'DAG1', 'score': 0.2}, {'connected_gene': 'GC03P049421', 'score': 0.14}]
chr3 GH03I049486 49486675 49488402 0.2 [{'connected_gene': 'AMT', 'score': 39.36}, {'connected_gene': 'WDR6', 'score': 15.18}, {'connected_gene': 'FAM212A', 'score': 11.67}, {'connected_gene': 'BSN', 'score': 10.53}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'BSN-AS2', 'score': 10.39}, {'connected_gene': 'IP6K2', 'score': 5.25}, {'connected_gene': 'MST1', 'score': 3.75}, {'connected_gene': 'DAG1', 'score': 0.37}, {'connected_gene': 'PIR41851', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.2}]
chr3 GH03I049498 49498741 49502599 1.32 [{'connected_gene': 'AMT', 'score': 43.99}, {'connected_gene': 'WDR6', 'score': 15.27}, {'connected_gene': 'FAM212A', 'score': 11.74}, {'connected_gene': 'MST1', 'score': 3.72}, {'connected_gene': 'DAG1', 'score': 0.29}, {'connected_gene': 'PIR41851', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.18}]
chr3 GH03I049420 49420371 49423507 1.87 [{'connected_gene': 'AMT', 'score': 595.49}, {'connected_gene': 'GC03P049421', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'FAM212A', 'score': 11.8}, {'connected_gene': 'RNA5SP130', 'score': 11.53}, {'connected_gene': 'DAG1', 'score': 11.53}, {'connected_gene': 'LAMB2', 'score': 9.78}, {'connected_gene': 'MST1', 'score': 3.59}, {'connected_gene': 'NICN1', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.44}]
chr3 GH03I049512 49512508 49514140 0.6 [{'connected_gene': 'AMT', 'score': 44.0}, {'connected_gene': 'WDR6', 'score': 15.26}, {'connected_gene': 'PIR41851', 'score': 0.37}, {'connected_gene': 'DAG1', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.16}]
chr3 GH03I049484 49484271 49486201 1.28 [{'connected_gene': 'AMT', 'score': 63.1}, {'connected_gene': 'ENSG00000235236', 'score': 48.05}, {'connected_gene': 'ENSG00000230454', 'score': 33.13}, {'connected_gene': 'RBM6', 'score': 32.93}, {'connected_gene': 'QRICH1', 'score': 30.62}, {'connected_gene': 'RBM5', 'score': 29.31}, {'connected_gene': 'WDR6', 'score': 28.42}, {'connected_gene': 'IP6K2', 'score': 27.39}, {'connected_gene': 'ENSG00000223343', 'score': 22.26}, {'connected_gene': 'BSN-AS2', 'score': 20.73}, {'connected_gene': 'P4HTM', 'score': 19.28}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.62}, {'connected_gene': 'USP19', 'score': 14.02}, {'connected_gene': 'NICN1', 'score': 12.15}, {'connected_gene': 'FAM212A', 'score': 11.78}, {'connected_gene': 'DALRD3', 'score': 11.2}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'RHOA-IT1', 'score': 10.85}, {'connected_gene': 'TMEM115', 'score': 10.58}, {'connected_gene': 'BSN', 'score': 10.53}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'CDHR4', 'score': 3.62}, {'connected_gene': 'DAG1', 'score': 0.37}, {'connected_gene': 'PIR41851', 'score': 0.25}, {'connected_gene': 'GC03P049421', 'score': 0.21}]
chr3 GH03I049467 49467300 49472548 2.23 [{'connected_gene': 'DAG1', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 55.59}, {'connected_gene': 'WDR6', 'score': 15.31}, {'connected_gene': 'LAMB2', 'score': 10.65}, {'connected_gene': 'MST1', 'score': 5.66}, {'connected_gene': 'USP4', 'score': 4.91}, {'connected_gene': 'GC03P049421', 'score': 0.25}, {'connected_gene': 'PIR41851', 'score': 0.21}]
chr3 GH03I049499 49498001 49498400 0.63 [{'connected_gene': 'DAG1', 'score': 0.31}, {'connected_gene': 'PIR41851', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.18}]
chr3 GH03I049494 49494883 49495446 0.49 [{'connected_gene': 'DAG1', 'score': 0.31}, {'connected_gene': 'PIR41851', 'score': 0.28}, {'connected_gene': 'GC03P049421', 'score': 0.19}]
chr3 GH03I049476 49476614 49476899 0.71 [{'connected_gene': 'DAG1', 'score': 0.44}, {'connected_gene': 'PIR41851', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.22}]
chr3 GH03I049481 49481219 49481959 0.2 [{'connected_gene': 'DAG1', 'score': 0.39}, {'connected_gene': 'PIR41851', 'score': 0.25}, {'connected_gene': 'GC03P049421', 'score': 0.21}]
chr3 GH03I049488 49488532 49489191 0.2 [{'connected_gene': 'WDR6', 'score': 32.63}, {'connected_gene': 'BSN', 'score': 10.53}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'BSN-AS2', 'score': 10.39}, {'connected_gene': 'DAG1', 'score': 0.34}, {'connected_gene': 'PIR41851', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.2}]
chr3 GH03I049493 49493072 49494301 0.38 [{'connected_gene': 'WDR6', 'score': 14.62}, {'connected_gene': 'HYAL3', 'score': 3.93}, {'connected_gene': 'MST1', 'score': 3.71}, {'connected_gene': 'DAG1', 'score': 0.34}, {'connected_gene': 'PIR41851', 'score': 0.28}, {'connected_gene': 'GC03P049421', 'score': 0.19}]
chr3 GH03I049483 49483330 49483981 0.2 [{'connected_gene': 'WDR6', 'score': 14.53}, {'connected_gene': 'DAG1', 'score': 0.39}, {'connected_gene': 'PIR41851', 'score': 0.25}, {'connected_gene': 'GC03P049421', 'score': 0.21}]
chr3 GH03I049269 49269028 49272284 0.38 [{'connected_gene': 'ENSG00000199546', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 50.12}, {'connected_gene': 'WDR6', 'score': 39.95}, {'connected_gene': 'CCDC36', 'score': 11.25}, {'connected_gene': 'C3orf84', 'score': 11.24}, {'connected_gene': 'KLHDC8B', 'score': 11.21}, {'connected_gene': 'CCDC71', 'score': 11.21}, {'connected_gene': 'RNA5SP130', 'score': 10.96}, {'connected_gene': 'DAG1', 'score': 10.96}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'QARS', 'score': 10.09}, {'connected_gene': 'QRICH1', 'score': 10.08}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 9.07}, {'connected_gene': 'MIR4271', 'score': 0.77}, {'connected_gene': 'C3orf62', 'score': 0.44}]
chr3 GH03I049502 49502803 49503403 0.31 [{'connected_gene': 'PIR41851', 'score': 0.31}, {'connected_gene': 'DAG1', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.18}]
chr3 GH03I049418 49418765 49420051 0.64 [{'connected_gene': 'GC03P049421', 'score': 550.77}, {'connected_gene': 'RNA5SP130', 'score': 11.53}, {'connected_gene': 'DAG1', 'score': 11.53}, {'connected_gene': 'LAMB2', 'score': 9.78}, {'connected_gene': 'AMT', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.44}]
chr3 GH03I049421 49420265 49420322 0.51 [{'connected_gene': 'GC03P049421', 'score': 550.77}, {'connected_gene': 'RNA5SP130', 'score': 11.53}, {'connected_gene': 'DAG1', 'score': 11.53}, {'connected_gene': 'LAMB2', 'score': 9.78}, {'connected_gene': 'AMT', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.44}]

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