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
ENST00000265140 [[93954051, 93954470], [93964515, 93964629], [93964796, 93964872], [93966207, 93966448], [93978977, 93979140], [93985158, 93985302], [93987406, 93987550], [93988976, 93989126], [93990334, 93990457], [93998002, 93998056], [93999454, 93999613], [94001565, 94001729], [94005855, 94005984], [94006547, 94006713], [94014512, 94014660], [94022277, 94022423], [94024210, 94024374], [94025177, 94025311], [94027268, 94027361], [94027778, 94027961], [94030535, 94033326]] [[93964515, 93964629], [93964796, 93964872], [93966207, 93966448], [93978977, 93979140], [93985158, 93985302], [93987406, 93987550], [93988976, 93989126], [93990334, 93990457], [93998002, 93998056], [93999454, 93999613], [94001565, 94001729], [94005855, 94005984], [94006547, 94006713], [94014512, 94014660], [94022277, 94022423], [94024210, 94024374], [94025177, 94025311], [94027268, 94027361], [94027778, 94027961], [94030535, 94031017]]
ENST00000508130 [[93954382, 93954470], [93964515, 93964629], [93964796, 93964872], [93966207, 93966448], [93985158, 93985302], [93987406, 93987550], [93988976, 93989126], [93990334, 93990456]] [[93964515, 93964629], [93964796, 93964872], [93966207, 93966448], [93985158, 93985267]]
ENST00000466957 [[93964586, 93964629], [93964796, 93964872], [93966207, 93966448], [93998002, 93998056], [93999454, 93999613], [94001611, 94001631]] [[93964586, 93964629], [93964796, 93964872], [93966207, 93966448], [93998002, 93998030]]
ENST00000508383 [[93954389, 93954470], [93964515, 93964629], [93964796, 93964872], [93965368, 93965425]] None
ENST00000504099 [[93954391, 93954470], [93955769, 93955876], [93964515, 93964629], [93964796, 93964872], [93966207, 93966409]] [[93964515, 93964629], [93964796, 93964872], [93966207, 93966409]]
ENST00000450932 [[94014103, 94014660], [94022277, 94022423], [94024210, 94024374], [94025177, 94025311], [94027268, 94027361], [94027778, 94027961], [94030535, 94031576]] None
ENST00000475916 [[94026899, 94027361], [94027778, 94027885]] None
ENST00000493934 [[94027890, 94027961], [94043929, 94043994], [94074868, 94075141]] None
NM_032290 [[93954390, 93954470], [93964515, 93964629], [93964796, 93964872], [93966207, 93966448], [93978977, 93979140], [93985158, 93985302], [93987406, 93987550], [93988976, 93989126], [93990334, 93990457], [93998002, 93998056], [93999454, 93999613], [94001565, 94001729], [94005855, 94005984], [94006547, 94006713], [94014512, 94014660], [94022277, 94022423], [94024210, 94024374], [94025177, 94025311], [94027268, 94027361], [94027778, 94027961], [94030535, 94031573]] [[93964515, 93964629], [93964796, 93964872], [93966207, 93966448], [93978977, 93979140], [93985158, 93985302], [93987406, 93987550], [93988976, 93989126], [93990334, 93990457], [93998002, 93998056], [93999454, 93999613], [94001565, 94001729], [94005855, 94005984], [94006547, 94006713], [94014512, 94014660], [94022277, 94022423], [94024210, 94024374], [94025177, 94025311], [94027268, 94027361], [94027778, 94027961], [94030535, 94031017]]
Promoter
Chrom Start End Description
chr5 93953918 93953955 CAGE_peak_4_at_ANKRD32_5end
chr5 93953956 93953975 CAGE_peak_5_at_ANKRD32_5end
chr5 93953985 93954006 CAGE_peak_6_at_ANKRD32_5end
chr5 93954039 93954052 CAGE_peak_8_at_ANKRD32_5end
chr5 93954358 93954406 CAGE_peak_1_at_ANKRD32_5end
chr5 93954410 93954423 CAGE_peak_3_at_ANKRD32_5end
chr5 94027855 94027904 CAGE_peak_2_at_ANKRD32_5end
chr5 94027924 94027935 CAGE_peak_7_at_ANKRD32_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I094518 94518290 94518346 0.44 [{'connected_gene': 'SLF1', 'score': 12.79}, {'connected_gene': 'KIAA0825', 'score': 11.0}, {'connected_gene': 'MTND5P12', 'score': 0.25}, {'connected_gene': 'GC05P094313', 'score': 0.08}]
chr5 GH05I094562 94562375 94562662 0.72 [{'connected_gene': 'SLF1', 'score': 10.45}, {'connected_gene': 'KIAA0825', 'score': 10.44}, {'connected_gene': 'MTND5P12', 'score': 0.77}, {'connected_gene': 'GC05P094313', 'score': 0.07}]
chr5 GH05I094698 94698131 94698700 0.76 [{'connected_gene': 'SLF1', 'score': 13.77}, {'connected_gene': 'KIAA0825', 'score': 12.46}, {'connected_gene': 'GC05P094754', 'score': 0.22}]
chr5 GH05I094713 94713827 94714051 0.22 [{'connected_gene': 'KIAA0825', 'score': 1.65}, {'connected_gene': 'GC05P094754', 'score': 0.26}, {'connected_gene': 'SLF1', 'score': 0.15}, {'connected_gene': 'MCTP1', 'score': 0.03}]
chr5 GH05I094716 94716391 94716769 0.26 [{'connected_gene': 'KIAA0825', 'score': 1.63}, {'connected_gene': 'GC05P094754', 'score': 0.28}, {'connected_gene': 'SLF1', 'score': 0.15}, {'connected_gene': 'MCTP1', 'score': 0.03}]
chr5 GH05I094616 94616601 94620252 2.24 [{'connected_gene': 'KIAA0825', 'score': 557.4}, {'connected_gene': 'SLF1', 'score': 550.77}, {'connected_gene': 'ENSG00000270133', 'score': 550.77}, {'connected_gene': 'RPL7P18', 'score': 6.3}]
chr5 GH05I094693 94693456 94693669 0.75 [{'connected_gene': 'KIAA0825', 'score': 11.23}, {'connected_gene': 'SLF1', 'score': 11.22}, {'connected_gene': 'GC05P094754', 'score': 0.21}]
chr5 GH05I094703 94703063 94703331 0.63 [{'connected_gene': 'KIAA0825', 'score': 10.65}, {'connected_gene': 'SLF1', 'score': 10.65}, {'connected_gene': 'GC05P094754', 'score': 0.23}]
chr5 GH05I094569 94569200 94569601 0.2 [{'connected_gene': 'MTND6P3', 'score': 550.77}, {'connected_gene': 'MTCYBP35', 'score': 550.77}, {'connected_gene': 'MTND5P12', 'score': 550.77}, {'connected_gene': 'SLF1', 'score': 10.73}, {'connected_gene': 'KIAA0825', 'score': 10.73}, {'connected_gene': 'RPL7P18', 'score': 6.16}]
chr5 GH05I094595 94595201 94595600 0.31 [{'connected_gene': 'GC05P094593', 'score': 0.77}, {'connected_gene': 'SLF1', 'score': 0.34}, {'connected_gene': 'KIAA0825', 'score': 0.34}]
chr5 GH05I094737 94737996 94738145 0.66 [{'connected_gene': 'GC05P094754', 'score': 0.37}, {'connected_gene': 'KIAA0825', 'score': 0.13}, {'connected_gene': 'SLF1', 'score': 0.13}, {'connected_gene': 'MCTP1', 'score': 0.03}]