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
ENST00000370449 [[101542488, 101542634], [101544364, 101544538], [101551990, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554225], [101556853, 101557088], [101558963, 101559127], [101560142, 101560320], [101563775, 101564030], [101565138, 101565204], [101567140, 101567278], [101567839, 101567986], [101569890, 101569975], [101571292, 101571359], [101572774, 101572901], [101577064, 101577241], [101578546, 101578714], [101578845, 101579026], [101590063, 101590190], [101590472, 101590608], [101591367, 101591587], [101591733, 101591888], [101594136, 101594292], [101595847, 101596047], [101601723, 101601850], [101603555, 101603657], [101604078, 101604222], [101605380, 101605539], [101606717, 101606884], [101610358, 101610553], [101611258, 101611949]] [[101542601, 101542634], [101544364, 101544538], [101551990, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554225], [101556853, 101557088], [101558963, 101559127], [101560142, 101560320], [101563775, 101564030], [101565138, 101565204], [101567140, 101567278], [101567839, 101567986], [101569890, 101569975], [101571292, 101571359], [101572774, 101572901], [101577064, 101577241], [101578546, 101578714], [101578845, 101579026], [101590063, 101590190], [101590472, 101590608], [101591367, 101591587], [101591733, 101591888], [101594136, 101594292], [101595847, 101596047], [101601723, 101601850], [101603555, 101603657], [101604078, 101604222], [101605380, 101605539], [101606717, 101606884], [101610358, 101610553], [101611258, 101611388]]
ENST00000370434 [[101542519, 101542634], [101544364, 101544538], [101551990, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554225], [101556853, 101557853]] [[101542601, 101542634], [101544364, 101544538], [101551990, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554225], [101556853, 101557103]]
ENST00000496621 [[101552045, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554380]] None
NM_000392 [[101542354, 101542634], [101544364, 101544538], [101551990, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554225], [101556853, 101557088], [101558963, 101559127], [101560142, 101560320], [101563775, 101564030], [101565138, 101565204], [101567140, 101567278], [101567839, 101567986], [101569890, 101569975], [101571292, 101571359], [101572774, 101572901], [101577064, 101577241], [101578546, 101578714], [101578845, 101579026], [101590063, 101590190], [101590472, 101590608], [101591367, 101591587], [101591733, 101591888], [101594136, 101594292], [101595847, 101596047], [101601723, 101601850], [101603555, 101603657], [101604078, 101604222], [101605380, 101605539], [101606717, 101606884], [101610358, 101610553], [101611258, 101611949]] [[101542601, 101542634], [101544364, 101544538], [101551990, 101552116], [101553307, 101553442], [101553648, 101553756], [101554169, 101554225], [101556853, 101557088], [101558963, 101559127], [101560142, 101560320], [101563775, 101564030], [101565138, 101565204], [101567140, 101567278], [101567839, 101567986], [101569890, 101569975], [101571292, 101571359], [101572774, 101572901], [101577064, 101577241], [101578546, 101578714], [101578845, 101579026], [101590063, 101590190], [101590472, 101590608], [101591367, 101591587], [101591733, 101591888], [101594136, 101594292], [101595847, 101596047], [101601723, 101601850], [101603555, 101603657], [101604078, 101604222], [101605380, 101605539], [101606717, 101606884], [101610358, 101610553], [101611258, 101611388]]
Promoter
Chrom Start End Description
chr10 101542384 101542406 CAGE_peak_2_at_ABCC2_5end
chr10 101542411 101542414 CAGE_peak_7_at_ABCC2_5end
chr10 101542415 101542428 CAGE_peak_4_at_ABCC2_5end
chr10 101542439 101542457 CAGE_peak_3_at_ABCC2_5end
chr10 101542462 101542535 CAGE_peak_1_at_ABCC2_5end
chr10 101542550 101542573 CAGE_peak_5_at_ABCC2_5end
chr10 101542585 101542592 CAGE_peak_6_at_ABCC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I099658 99658200 99663967 2.22 [{'connected_gene': 'SLC25A28', 'score': 562.19}, {'connected_gene': 'ENTPD7', 'score': 560.67}, {'connected_gene': 'PIR56896', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 13.17}, {'connected_gene': 'CUTC', 'score': 11.6}, {'connected_gene': 'CHUK', 'score': 10.8}, {'connected_gene': 'EBAG9P1', 'score': 10.65}, {'connected_gene': 'ABCC2', 'score': 7.54}]
chr10 GH10I099617 99617150 99622718 2.3 [{'connected_gene': 'SLC25A28', 'score': 561.69}, {'connected_gene': 'ENSG00000260475', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 31.28}, {'connected_gene': 'PHBP9', 'score': 29.58}, {'connected_gene': 'CHUK', 'score': 28.3}, {'connected_gene': 'DNMBP', 'score': 19.93}, {'connected_gene': 'EBAG9P1', 'score': 15.07}, {'connected_gene': 'ENSG00000236308', 'score': 11.97}, {'connected_gene': 'NKX2-3', 'score': 11.24}, {'connected_gene': 'CUTC', 'score': 10.21}, {'connected_gene': 'ENTPD7', 'score': 9.45}, {'connected_gene': 'ABCC2', 'score': 8.4}, {'connected_gene': 'PIR55652', 'score': 0.44}, {'connected_gene': 'GC10M099612', 'score': 0.44}]
chr10 GH10I099692 99692929 99696343 0.63 [{'connected_gene': 'ENTPD7', 'score': 10.18}, {'connected_gene': 'ABCC2', 'score': 7.88}, {'connected_gene': 'EBAG9P1', 'score': 0.77}, {'connected_gene': 'PIR56896', 'score': 0.29}, {'connected_gene': 'COX15', 'score': 0.28}]
chr10 GH10I099769 99769362 99771585 0.78 [{'connected_gene': 'CWF19L1', 'score': 7.28}, {'connected_gene': 'ABCC2', 'score': 0.39}, {'connected_gene': 'GC10P099758', 'score': 0.39}]
chr10 GH10I099773 99773656 99775306 0.38 [{'connected_gene': 'CWF19L1', 'score': 6.69}, {'connected_gene': 'ABCC2', 'score': 0.44}, {'connected_gene': 'GC10P099758', 'score': 0.37}]
chr10 GH10I099788 99788150 99789455 1.28 [{'connected_gene': 'NANOGP6', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 7.42}, {'connected_gene': 'ABCC2', 'score': 0.44}]
chr10 GH10I099810 99810224 99810373 0.2 [{'connected_gene': 'NANOGP6', 'score': 11.86}, {'connected_gene': 'ABCC2', 'score': 11.83}, {'connected_gene': 'CUTC', 'score': 9.76}, {'connected_gene': 'GC10P099874', 'score': 0.21}]
chr10 GH10I099833 99833754 99835438 0.62 [{'connected_gene': 'NANOGP6', 'score': 11.14}, {'connected_gene': 'ABCC2', 'score': 11.12}, {'connected_gene': 'DNMBP', 'score': 10.45}, {'connected_gene': 'DNMBP-AS1', 'score': 5.43}, {'connected_gene': 'GC10P099874', 'score': 0.28}]
chr10 GH10I099863 99863504 99864609 0.31 [{'connected_gene': 'DNMBP', 'score': 11.26}, {'connected_gene': 'NANOGP6', 'score': 10.75}, {'connected_gene': 'ABCC2', 'score': 10.73}, {'connected_gene': 'CWF19L1', 'score': 5.56}, {'connected_gene': 'GC10P099874', 'score': 0.39}]
chr10 GH10I099944 99944011 99946134 0.97 [{'connected_gene': 'DNMBP', 'score': 34.49}, {'connected_gene': 'NANOGP6', 'score': 10.05}, {'connected_gene': 'ABCC2', 'score': 10.04}, {'connected_gene': 'DNMBP-AS1', 'score': 0.37}]
chr10 GH10I099848 99848084 99848743 0.2 [{'connected_gene': 'DNMBP', 'score': 11.16}, {'connected_gene': 'DNMBP-AS1', 'score': 10.59}, {'connected_gene': 'GC10P099874', 'score': 0.31}, {'connected_gene': 'NANOGP6', 'score': 0.22}, {'connected_gene': 'ABCC2', 'score': 0.2}]
chr10 GH10I099849 99849216 99851193 0.78 [{'connected_gene': 'DNMBP', 'score': 21.14}, {'connected_gene': 'DNMBP-AS1', 'score': 15.76}, {'connected_gene': 'EBAG9P1', 'score': 5.18}, {'connected_gene': 'GC10P099874', 'score': 0.34}, {'connected_gene': 'NANOGP6', 'score': 0.21}, {'connected_gene': 'ABCC2', 'score': 0.2}]
chr10 GH10I099615 99615782 99616348 0.2 [{'connected_gene': 'ABCC2', 'score': 8.4}, {'connected_gene': 'ENTPD7', 'score': 8.38}, {'connected_gene': 'ENSG00000260475', 'score': 5.89}, {'connected_gene': 'PIR55652', 'score': 0.77}, {'connected_gene': 'GC10M099612', 'score': 0.77}, {'connected_gene': 'SLC25A28', 'score': 0.26}]
chr10 GH10I099741 99741848 99742137 0.2 [{'connected_gene': 'ABCC2', 'score': 11.35}, {'connected_gene': 'NANOGP6', 'score': 11.33}, {'connected_gene': 'CUTC', 'score': 10.4}, {'connected_gene': 'PIR37309', 'score': 0.77}, {'connected_gene': 'GC10P099739', 'score': 0.77}, {'connected_gene': 'GC10P099758', 'score': 0.37}]
chr10 GH10I099775 99775402 99786514 2.18 [{'connected_gene': 'ABCC2', 'score': 552.92}, {'connected_gene': 'EBAG9P1', 'score': 14.48}, {'connected_gene': 'SEC31B', 'score': 10.14}, {'connected_gene': 'CWF19L1', 'score': 7.62}, {'connected_gene': 'COX15', 'score': 5.89}, {'connected_gene': 'GC10P099758', 'score': 0.34}]
chr10 GH10I099684 99684670 99686538 1.05 [{'connected_gene': 'EBAG9P1', 'score': 11.31}, {'connected_gene': 'ABCC2', 'score': 6.67}, {'connected_gene': 'PIR56896', 'score': 0.34}, {'connected_gene': 'ENTPD7', 'score': 0.31}]
chr10 GH10I099845 99845444 99846600 1.07 [{'connected_gene': 'DNMBP-AS1', 'score': 18.11}, {'connected_gene': 'NANOGP6', 'score': 11.22}, {'connected_gene': 'ABCC2', 'score': 11.21}, {'connected_gene': 'DNMBP', 'score': 11.16}, {'connected_gene': 'EBAG9P1', 'score': 4.74}, {'connected_gene': 'GC10P099874', 'score': 0.31}]
chr10 GH10I099761 99761504 99761653 0.4 [{'connected_gene': 'DNMBP-AS1', 'score': 9.24}, {'connected_gene': 'DNMBP', 'score': 9.21}, {'connected_gene': 'GC10P099758', 'score': 0.77}, {'connected_gene': 'ABCC2', 'score': 0.34}]
chr10 GH10I099764 99764513 99765324 0.43 [{'connected_gene': 'DNMBP-AS1', 'score': 9.24}, {'connected_gene': 'DNMBP', 'score': 9.21}, {'connected_gene': 'GC10P099758', 'score': 0.44}, {'connected_gene': 'ABCC2', 'score': 0.37}]
chr10 GH10I099766 99766444 99766593 0.92 [{'connected_gene': 'GC10P099758', 'score': 0.44}, {'connected_gene': 'ABCC2', 'score': 0.37}]

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