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
ENST00000358731 [[70751441, 70751916], [70754405, 70754682], [70757643, 70757753], [70759884, 70759944], [70761922, 70762048], [70763180, 70763314], [70766221, 70766316], [70779668, 70779723], [70782310, 70782454], [70785230, 70785509], [70786810, 70786958], [70791076, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70806978], [70808067, 70808255], [70809011, 70809234], [70810770, 70810949], [70811887, 70812098], [70813148, 70813279], [70818115, 70818317], [70818582, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837280, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70845246, 70845433], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70860580, 70863647]] [[70751704, 70751916], [70754405, 70754682], [70757643, 70757753], [70759884, 70759944], [70761922, 70762048], [70763180, 70763314], [70766221, 70766316], [70779668, 70779723], [70782310, 70782454], [70785230, 70785509], [70786810, 70786958], [70791076, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70806978], [70808067, 70808255], [70809011, 70809234], [70810770, 70810949], [70811887, 70812098], [70813148, 70813279], [70818115, 70818317], [70818582, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837280, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70845246, 70845433], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70860580, 70860712]]
ENST00000380675 [[70751441, 70751916], [70754405, 70754682], [70757643, 70757753], [70759884, 70759944], [70761922, 70762048], [70763180, 70763314], [70766221, 70766316], [70779668, 70779723], [70782310, 70782454], [70785230, 70785509], [70786810, 70786958], [70791076, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70806978], [70808067, 70808255], [70809011, 70809234], [70810770, 70810949], [70811887, 70812098], [70813148, 70813279], [70818115, 70818317], [70818582, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837283, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70860580, 70863649]] [[70819967, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837283, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70848942, 70849118]]
ENST00000508917 [[70751512, 70751916], [70754405, 70754682], [70757643, 70757753], [70759884, 70759944], [70761922, 70762048], [70763180, 70763314], [70766221, 70766316], [70779668, 70779723], [70782310, 70782454], [70785230, 70785509], [70786810, 70786958], [70791076, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70806978], [70808067, 70808255], [70809011, 70809234], [70810770, 70810949], [70811887, 70812098], [70813148, 70813279], [70818115, 70818317], [70818582, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837280, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841304]] None
ENST00000508157 [[70790291, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70807177]] None
ENST00000514903 [[70818619, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837283, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70858601, 70858722], [70860580, 70863647]] [[70818619, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837283, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70848942, 70849118]]
ENST00000525844 [[70828200, 70828254], [70834868, 70834905], [70837283, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70845246, 70845433], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70858601, 70858722], [70860580, 70863647]] [[70828200, 70828254], [70834868, 70834905], [70837283, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70845246, 70845433], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70858601, 70858613]]
NM_018429 [[70751441, 70751916], [70754405, 70754682], [70757643, 70757753], [70759884, 70759944], [70761922, 70762048], [70763180, 70763314], [70766221, 70766316], [70779668, 70779723], [70782310, 70782454], [70785230, 70785509], [70786810, 70786958], [70791076, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70806978], [70808067, 70808255], [70809011, 70809234], [70810770, 70810949], [70811887, 70812098], [70813148, 70813279], [70818115, 70818317], [70818582, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837280, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70845246, 70845433], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70860580, 70863649]] [[70751704, 70751916], [70754405, 70754682], [70757643, 70757753], [70759884, 70759944], [70761922, 70762048], [70763180, 70763314], [70766221, 70766316], [70779668, 70779723], [70782310, 70782454], [70785230, 70785509], [70786810, 70786958], [70791076, 70791235], [70793096, 70793253], [70797388, 70797480], [70798425, 70798618], [70800447, 70800578], [70805291, 70806978], [70808067, 70808255], [70809011, 70809234], [70810770, 70810949], [70811887, 70812098], [70813148, 70813279], [70818115, 70818317], [70818582, 70818776], [70819765, 70820150], [70828134, 70828254], [70834868, 70834905], [70835383, 70835476], [70837280, 70837509], [70837931, 70838092], [70840183, 70840334], [70840865, 70841046], [70844508, 70844572], [70845246, 70845433], [70848942, 70849147], [70852712, 70852752], [70855808, 70856064], [70858100, 70858347], [70860580, 70860712]]
Promoter
Chrom Start End Description
chr5 70751445 70751456 CAGE_peak_2_at_BDP1_5end
chr5 70751463 70751503 CAGE_peak_1_at_BDP1_5end
chr5 70751508 70751519 CAGE_peak_3_at_BDP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I071585 71585790 71589068 2.05 [{'connected_gene': 'MCCC2', 'score': 567.65}, {'connected_gene': 'BDP1', 'score': 10.82}, {'connected_gene': 'CARTPT', 'score': 0.12}]
chr5 GH05I071414 71414910 71430314 0.65 [{'connected_gene': 'MCCC2', 'score': 11.87}, {'connected_gene': 'BDP1', 'score': 5.78}, {'connected_gene': 'LOC653406', 'score': 5.69}, {'connected_gene': 'SERF1A', 'score': 5.35}, {'connected_gene': 'LOC107987434', 'score': 0.34}, {'connected_gene': 'LOC107987420', 'score': 0.34}, {'connected_gene': 'LINC02197', 'score': 0.31}, {'connected_gene': 'PMCHL2', 'score': 0.25}]
chr5 GH05I071481 71481820 71484632 0.79 [{'connected_gene': 'MCCC2', 'score': 15.63}, {'connected_gene': 'BDP1', 'score': 13.62}, {'connected_gene': 'LOC653080', 'score': 11.75}, {'connected_gene': 'GUSBP9', 'score': 11.54}, {'connected_gene': 'SMN1', 'score': 11.03}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'NAIP', 'score': 4.61}, {'connected_gene': 'LOC100419852', 'score': 0.44}, {'connected_gene': 'HMGN1P12', 'score': 0.23}]
chr5 GH05I071577 71577589 71578647 0.54 [{'connected_gene': 'MCCC2', 'score': 6.03}, {'connected_gene': 'HMGN1P12', 'score': 0.26}, {'connected_gene': 'BDP1', 'score': 0.13}]
chr5 GH05I071454 71454808 71457225 2.09 [{'connected_gene': 'BDP1', 'score': 572.81}, {'connected_gene': 'ENSG00000196302', 'score': 13.09}, {'connected_gene': 'MCCC2', 'score': 12.64}, {'connected_gene': 'LOC100419852', 'score': 0.34}]
chr5 GH05I072106 72106519 72111578 2.49 [{'connected_gene': 'MAP1B', 'score': 553.37}, {'connected_gene': 'LOC105379028', 'score': 550.77}, {'connected_gene': 'BDP1', 'score': 34.11}, {'connected_gene': 'TNPO1', 'score': 21.38}, {'connected_gene': 'FCHO2', 'score': 16.77}, {'connected_gene': 'LOC653406', 'score': 11.83}, {'connected_gene': 'GUSBP9', 'score': 11.71}, {'connected_gene': 'RPL7P22', 'score': 10.25}, {'connected_gene': 'PTCD2', 'score': 5.67}, {'connected_gene': 'GC05P072152', 'score': 0.26}, {'connected_gene': 'GC05M072061', 'score': 0.15}]
chr5 GH05I071931 71931652 71933784 1.13 [{'connected_gene': 'TNPO1', 'score': 11.9}, {'connected_gene': 'BDP1', 'score': 10.75}, {'connected_gene': 'PIR47517', 'score': 0.29}, {'connected_gene': 'MAP1B', 'score': 0.09}]
chr5 GH05I072319 72319008 72321729 2.06 [{'connected_gene': 'MRPS27', 'score': 558.87}, {'connected_gene': 'PTCD2', 'score': 550.77}, {'connected_gene': 'FCHO2', 'score': 41.54}, {'connected_gene': 'TNPO1', 'score': 30.46}, {'connected_gene': 'BDP1', 'score': 27.53}, {'connected_gene': 'RPL7P22', 'score': 12.5}]
chr5 GH05I071533 71533209 71533600 0.67 [{'connected_gene': 'HMGN1P12', 'score': 0.77}, {'connected_gene': 'LOC100419852', 'score': 0.22}, {'connected_gene': 'BDP1', 'score': 0.18}]
chr5 GH05I071476 71476176 71476307 0.44 [{'connected_gene': 'LOC100419852', 'score': 550.77}, {'connected_gene': 'BDP1', 'score': 0.34}]

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