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
ENST00000522243 [[59465482, 59465862], [59483445, 59483524], [59484763, 59484860]] None
ENST00000422546 [[59465727, 59465862], [59477580, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495418]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000260130 [[59465727, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000447182 [[59465774, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495405]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000413219 [[59465775, 59465862], [59477580, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495389]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000424270 [[59465795, 59465862], [59477577, 59477625], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494615]] [[59477592, 59477625], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000523483 [[59465812, 59465862], [59472842, 59474354], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495417]] [[59474306, 59474354], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000520168 [[59465813, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59490606, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494612]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59490606, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000519115 [[59465819, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490943]] None
ENST00000522843 [[59465820, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488925]] None
ENST00000447267 [[59477574, 59477643], [59483445, 59483524], [59484763, 59484873], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494318]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
ENST00000520228 [[59483270, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490629]] None
ENST00000523441 [[59490551, 59490767], [59492181, 59492508]] None
NM_001330537 [[59465482, 59465862], [59472842, 59474354], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59474306, 59474354], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
NM_001007070 [[59465727, 59465862], [59477580, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
NM_001007067 [[59465727, 59465862], [59477580, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
NM_001007068 [[59465727, 59465862], [59477577, 59477625], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59477592, 59477625], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
NM_001007069 [[59465727, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488461, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
NM_005625 [[59465727, 59465862], [59477577, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59495419]] [[59477592, 59477643], [59483445, 59483524], [59484763, 59484873], [59488458, 59488620], [59490591, 59490767], [59492181, 59492353], [59493075, 59493167], [59494244, 59494299]]
Promoter
Chrom Start End Description
chr8 59465790 59465826 CAGE_peak_1_at_SDCBP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I058616 58616475 58617000 1.01 [{'connected_gene': 'SDCBP', 'score': 12.62}, {'connected_gene': 'GC08P058613', 'score': 0.77}, {'connected_gene': 'GC08P058645', 'score': 0.31}, {'connected_gene': 'NSMAF', 'score': 0.26}]
chr8 GH08I058582 58582475 58586591 0.2 [{'connected_gene': 'SDCBP', 'score': 10.3}, {'connected_gene': 'RPS26P7', 'score': 0.77}, {'connected_gene': 'NSMAF', 'score': 0.18}]
chr8 GH08I058608 58608162 58609585 1.03 [{'connected_gene': 'SDCBP', 'score': 4.41}, {'connected_gene': 'GC08P058613', 'score': 0.44}, {'connected_gene': 'RPS26P7', 'score': 0.34}, {'connected_gene': 'NSMAF', 'score': 0.23}]
chr8 GH08I058593 58593526 58597564 1.33 [{'connected_gene': 'SDCBP', 'score': 10.87}, {'connected_gene': 'RPS26P7', 'score': 0.44}, {'connected_gene': 'GC08P058613', 'score': 0.37}, {'connected_gene': 'NSMAF', 'score': 0.21}]
chr8 GH08I058599 58599376 58600441 0.2 [{'connected_gene': 'SDCBP', 'score': 7.01}, {'connected_gene': 'GC08P058613', 'score': 0.39}, {'connected_gene': 'RPS26P7', 'score': 0.39}, {'connected_gene': 'NSMAF', 'score': 0.22}]
chr8 GH08I058557 58557484 58559200 0.96 [{'connected_gene': 'SDCBP', 'score': 10.5}, {'connected_gene': 'RPS26P7', 'score': 0.29}]
chr8 GH08I058566 58566582 58568053 0.38 [{'connected_gene': 'SDCBP', 'score': 10.4}, {'connected_gene': 'RPS26P7', 'score': 0.34}]
chr8 GH08I058572 58572958 58574331 0.2 [{'connected_gene': 'SDCBP', 'score': 10.3}, {'connected_gene': 'RPS26P7', 'score': 0.37}]
chr8 GH08I058552 58552400 58555801 2.25 [{'connected_gene': 'SDCBP', 'score': 559.56}, {'connected_gene': 'RPS26P7', 'score': 0.29}]
chr8 GH08I058559 58559705 58560576 0.4 [{'connected_gene': 'SDCBP', 'score': 10.4}, {'connected_gene': 'RPS26P7', 'score': 0.31}]
chr8 GH08I058563 58563238 58564551 0.86 [{'connected_gene': 'SDCBP', 'score': 8.79}, {'connected_gene': 'RPS26P7', 'score': 0.34}]
chr8 GH08I058574 58574641 58576160 0.2 [{'connected_gene': 'SDCBP', 'score': 8.61}, {'connected_gene': 'RPS26P7', 'score': 0.39}]
chr8 GH08I058578 58578907 58579242 0.44 [{'connected_gene': 'SDCBP', 'score': 13.05}, {'connected_gene': 'UBXN2B', 'score': 6.81}, {'connected_gene': 'RPS26P7', 'score': 0.44}]
chr8 GH08I058457 58457711 58459750 0.62 [{'connected_gene': 'SDCBP', 'score': 5.95}, {'connected_gene': 'UBXN2B', 'score': 5.95}, {'connected_gene': 'GC08M058432', 'score': 0.39}, {'connected_gene': 'CYP7A1', 'score': 0.26}]
chr8 GH08I058395 58395202 58398442 1.5 [{'connected_gene': 'SDCBP', 'score': 16.67}, {'connected_gene': 'UBXN2B', 'score': 14.27}, {'connected_gene': 'GC08P058299', 'score': 0.15}]
chr8 GH08I058399 58399114 58399556 0.45 [{'connected_gene': 'SDCBP', 'score': 8.11}, {'connected_gene': 'UBXN2B', 'score': 0.39}, {'connected_gene': 'GC08P058299', 'score': 0.15}]
chr8 GH08I058218 58218082 58218362 0.71 [{'connected_gene': 'SDCBP', 'score': 6.57}, {'connected_gene': 'ENSG00000253376', 'score': 4.52}, {'connected_gene': 'LOC101929528', 'score': 0.23}, {'connected_gene': 'GC08M057799', 'score': 0.21}]
chr8 GH08I058128 58128161 58129794 0.99 [{'connected_gene': 'SDCBP', 'score': 8.7}, {'connected_gene': 'RPL26P26', 'score': 0.37}, {'connected_gene': 'GC08M057799', 'score': 0.31}, {'connected_gene': 'FAM110B', 'score': 0.12}]
chr8 GH08I058543 58543842 58543991 0.2 [{'connected_gene': 'SDCBP', 'score': 0.44}, {'connected_gene': 'GC08P058531', 'score': 0.39}]
chr8 GH08I058587 58587168 58587327 0.44 [{'connected_gene': 'RPS26P7', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 7.19}, {'connected_gene': 'NSMAF', 'score': 1.79}, {'connected_gene': 'UBXN2B', 'score': 1.45}]
chr8 GH08I058589 58589729 58591470 0.31 [{'connected_gene': 'RPS26P7', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 8.74}, {'connected_gene': 'GC08P058613', 'score': 0.34}, {'connected_gene': 'NSMAF', 'score': 0.2}]
chr8 GH08I058470 58470649 58471902 0.85 [{'connected_gene': 'CYP7A1', 'score': 12.88}, {'connected_gene': 'SDCBP', 'score': 6.46}, {'connected_gene': 'GC08M058432', 'score': 0.31}]
chr8 GH08I058392 58392735 58393073 0.72 [{'connected_gene': 'UBXN2B', 'score': 14.23}, {'connected_gene': 'SDCBP', 'score': 8.82}, {'connected_gene': 'GC08P058299', 'score': 0.16}]
chr8 GH08I058503 58503405 58506162 0.31 [{'connected_gene': 'PPIAP85', 'score': 550.77}, {'connected_gene': 'UBXN2B', 'score': 8.47}, {'connected_gene': 'SDCBP', 'score': 7.41}, {'connected_gene': 'LOC105375857', 'score': 0.39}]
chr8 GH08I058155 58155001 58157864 0.93 [{'connected_gene': 'GC08M057799', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 6.25}, {'connected_gene': 'LOC101929528', 'score': 0.13}, {'connected_gene': 'FAM110B', 'score': 0.1}]

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