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
ENST00000245451 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420118], [54423267, 54423529]] [[54416749, 54417606], [54418570, 54418940]]
ENST00000559087 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420118], [54423476, 54423529]] [[54416749, 54417606], [54418570, 54418940]]
ENST00000417573 [[54416456, 54417606], [54418570, 54418947], [54419993, 54420118], [54421138, 54421270]] [[54416749, 54417606], [54418570, 54418940]]
ENST00000558984 [[54416458, 54417606], [54418570, 54418947], [54419993, 54420173]] [[54416749, 54417606], [54418570, 54418940]]
ENST00000559501 [[54416972, 54417606], [54418570, 54418894], [54419993, 54420147]] [[54416972, 54417606], [54418570, 54418751]]
ENST00000558961 [[54417339, 54417539], [54418570, 54418865]] [[54417519, 54417539], [54418570, 54418865]]
ENST00000609748 [[54418140, 54418598]] [[54418508, 54418598]]
ENST00000559642 [[54418609, 54418947], [54419993, 54420118], [54425437, 54425479]] [[54418609, 54418940]]
ENST00000558489 [[54422183, 54422689], [54423267, 54423366]] None
NM_001347914 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420193]] [[54416749, 54417606], [54418570, 54418940]]
NM_001347915 [[54416453, 54417606], [54418570, 54418894], [54419993, 54420193]] [[54416749, 54417606], [54418570, 54418751]]
NM_130851 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420118], [54421138, 54421218]] [[54416749, 54417606], [54418570, 54418940]]
NM_001347916 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420118], [54421343, 54421768]] [[54416749, 54417606], [54418570, 54418940]]
NM_001347917 [[54416453, 54417606], [54418570, 54418894], [54419993, 54420118], [54421343, 54421768]] [[54416749, 54417606], [54418570, 54418751]]
NM_001202 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420118], [54423267, 54423609]] [[54416749, 54417606], [54418570, 54418940]]
NM_001347913 [[54416453, 54417606], [54418570, 54418894], [54419993, 54420118], [54423267, 54423609]] [[54416749, 54417606], [54418570, 54418751]]
NM_130850 [[54416453, 54417606], [54418570, 54418947], [54419993, 54420118], [54423476, 54423609]] [[54416749, 54417606], [54418570, 54418940]]
NM_001347912 [[54416453, 54417606], [54418570, 54418894], [54419993, 54420118], [54423476, 54423609]] [[54416749, 54417606], [54418570, 54418894], [54419993, 54420118], [54423476, 54423538]]
Promoter
Chrom Start End Description
chr14 54418733 54418774 CAGE_peak_7_at_BMP4_5end
chr14 54420100 54420120 CAGE_peak_2_at_BMP4_5end
chr14 54420133 54420150 CAGE_peak_3_at_BMP4_5end
chr14 54421190 54421212 CAGE_peak_5_at_BMP4_5end
chr14 54423434 54423446 CAGE_peak_6_at_BMP4_5end
chr14 54423459 54423483 CAGE_peak_4_at_BMP4_5end
chr14 54423533 54423552 CAGE_peak_1_at_BMP4_5end
chr14 54425475 54425500 CAGE_peak_8_at_BMP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I054048 54048240 54049537 0.77 [{'connected_gene': 'BMP4', 'score': 4.47}, {'connected_gene': 'PIR60606', 'score': 0.77}, {'connected_gene': 'GC14M054021', 'score': 0.37}, {'connected_gene': 'ATP5F1CP1', 'score': 0.22}, {'connected_gene': 'LOC105370507', 'score': 0.12}]
chr14 GH14I053962 53962503 53964200 1.09 [{'connected_gene': 'BMP4', 'score': 5.7}, {'connected_gene': 'ATP5F1CP1', 'score': 0.31}]
chr14 GH14I054002 54002393 54003367 0.43 [{'connected_gene': 'BMP4', 'score': 5.21}, {'connected_gene': 'ATP5F1CP1', 'score': 0.39}, {'connected_gene': 'PIR60606', 'score': 0.23}]
chr14 GH14I053978 53978303 53981196 0.89 [{'connected_gene': 'BMP4', 'score': 15.99}, {'connected_gene': 'ATP5F1CP1', 'score': 0.39}]
chr14 GH14I053998 53998578 54001796 1.19 [{'connected_gene': 'BMP4', 'score': 5.17}, {'connected_gene': 'ATP5F1CP1', 'score': 0.44}, {'connected_gene': 'PIR60606', 'score': 0.23}]
chr14 GH14I053971 53971643 53971792 0.2 [{'connected_gene': 'BMP4', 'score': 0.39}, {'connected_gene': 'ATP5F1CP1', 'score': 0.34}]
chr14 GH14I054087 54087044 54087715 0.2 [{'connected_gene': 'BMP4', 'score': 4.66}, {'connected_gene': 'GC14P054090', 'score': 0.77}, {'connected_gene': 'PIR32127', 'score': 0.39}, {'connected_gene': 'LOC105370507', 'score': 0.15}]
chr14 GH14I054133 54133095 54136242 1.12 [{'connected_gene': 'BMP4', 'score': 5.02}, {'connected_gene': 'GC14P054145', 'score': 0.39}, {'connected_gene': 'GC14M054134', 'score': 0.39}, {'connected_gene': 'LOC105370505', 'score': 0.37}, {'connected_gene': 'LOC105370507', 'score': 0.23}]
chr14 GH14I054104 54104377 54111135 1.51 [{'connected_gene': 'BMP4', 'score': 4.64}, {'connected_gene': 'LOC105370505', 'score': 0.44}, {'connected_gene': 'GC14P054090', 'score': 0.37}, {'connected_gene': 'LOC105370507', 'score': 0.18}]
chr14 GH14I053180 53180368 53181612 0.8 [{'connected_gene': 'BMP4', 'score': 10.65}, {'connected_gene': 'ENSG00000237356', 'score': 0.39}, {'connected_gene': 'LOC105370502', 'score': 0.39}, {'connected_gene': 'PIR61157', 'score': 0.39}, {'connected_gene': 'GC14M053236', 'score': 0.19}]
chr14 GH14I053950 53950589 53958397 2.36 [{'connected_gene': 'BMP4', 'score': 559.2}, {'connected_gene': 'MIR5580', 'score': 0.44}]
chr14 GH14I053927 53927017 53927872 0.62 [{'connected_gene': 'BMP4', 'score': 12.0}, {'connected_gene': 'ENSG00000231922', 'score': 0.44}, {'connected_gene': 'MIR5580', 'score': 0.34}]
chr14 GH14I053942 53942651 53944231 1.01 [{'connected_gene': 'BMP4', 'score': 5.73}, {'connected_gene': 'MIR5580', 'score': 0.44}, {'connected_gene': 'ENSG00000231922', 'score': 0.31}]
chr14 GH14I053982 53982212 53982961 0.38 [{'connected_gene': 'ATP5F1CP1', 'score': 0.44}, {'connected_gene': 'BMP4', 'score': 0.34}]
chr14 GH14I053977 53977740 53977940 0.22 [{'connected_gene': 'ATP5F1CP1', 'score': 0.39}, {'connected_gene': 'BMP4', 'score': 0.37}]
chr14 GH14I054487 54487531 54491346 2.06 [{'connected_gene': 'GMFB', 'score': 550.77}, {'connected_gene': 'ATG14', 'score': 58.94}, {'connected_gene': 'BMP4', 'score': 49.13}, {'connected_gene': 'MAPK1IP1L', 'score': 26.53}, {'connected_gene': 'SOCS4', 'score': 22.61}, {'connected_gene': 'ENSG00000259318', 'score': 22.36}, {'connected_gene': 'CGRRF1', 'score': 11.85}, {'connected_gene': 'CNIH1', 'score': 11.05}, {'connected_gene': 'WDHD1', 'score': 9.89}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14 GH14I054900 54900413 54903631 2.01 [{'connected_gene': 'GCH1', 'score': 567.14}, {'connected_gene': 'GC14P054902', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 22.12}, {'connected_gene': 'BMP4', 'score': 10.65}, {'connected_gene': 'ATG14', 'score': 9.85}, {'connected_gene': 'FDPSP3', 'score': 0.37}]
chr14 GH14I054395 54395883 54398618 2.01 [{'connected_gene': 'CDKN3', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 28.06}, {'connected_gene': 'SOCS4', 'score': 14.16}, {'connected_gene': 'WDHD1', 'score': 13.83}, {'connected_gene': 'BMP4', 'score': 11.3}, {'connected_gene': 'CNIH1', 'score': 7.68}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr14 GH14I053278 53278801 53279852 0.85 [{'connected_gene': 'LOC101927620', 'score': 15.11}, {'connected_gene': 'LOC105370500', 'score': 13.35}, {'connected_gene': 'BMP4', 'score': 12.84}, {'connected_gene': 'ENSG00000237356', 'score': 12.81}, {'connected_gene': 'PSMC6', 'score': 9.73}, {'connected_gene': 'GC14M053236', 'score': 0.31}, {'connected_gene': 'PIR59222', 'score': 0.25}]
chr14 GH14I053946 53946066 53947732 1.09 [{'connected_gene': 'MIR5580', 'score': 550.77}, {'connected_gene': 'BMP4', 'score': 7.61}, {'connected_gene': 'ENSG00000231922', 'score': 0.31}]