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
ENST00000504942 [[104512975, 104513290], [104709313, 104709524], [104778454, 104778765], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843]] [[104513114, 104513290], [104709313, 104709524], [104778454, 104778765], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843]]
ENST00000406091 [[104513114, 104513290], [104709313, 104709524], [104778454, 104778765], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]] [[104513114, 104513290], [104709313, 104709524], [104778454, 104778765], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
ENST00000515551 [[104831447, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955074]] [[104831735, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955074]]
ENST00000262231 [[104831487, 104831857], [104897525, 104898451], [104922548, 104922757], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264087]] [[104831735, 104831857], [104897525, 104898451], [104922548, 104922757], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
ENST00000507740 [[104831499, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105268322]] [[104831735, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
ENST00000408894 [[104831614, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105025669, 105025849], [105026733, 105026843], [105027651, 105027684], [105053556, 105053586], [105080739, 105080840], [105105698, 105105871], [105160834, 105161076], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263298]] [[104831735, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105025669, 105025849], [105026733, 105026843], [105027651, 105027684], [105053556, 105053586], [105080739, 105080840], [105105698, 105105871], [105160834, 105161076], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263298]]
ENST00000522174 [[104831781, 104831857], [104897525, 104898036]] None
ENST00000436393 [[104892644, 104892917], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105026733, 105026843], [105027651, 105027684], [105053553, 105053586], [105080739, 105080840], [105105698, 105105871], [105106705, 105106957], [105160834, 105161076], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264087]] [[104892885, 104892917], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105026733, 105026843], [105027651, 105027684], [105053553, 105053586], [105080739, 105080840], [105105698, 105105871], [105106705, 105106957], [105160834, 105161076], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
ENST00000523362 [[105235591, 105236021], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105263964]] [[105235879, 105236021], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105263964]]
ENST00000339750 [[105235879, 105236021], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264087]] [[105235879, 105236021], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
ENST00000395361 [[104778454, 104778765], [104780490, 104780729]] None
ENST00000507677 [[104924359, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104988487]] None
ENST00000512598 [[104927740, 104927822], [104928641, 104928765], [104930668, 104930881]] None
ENST00000501515 [[104927740, 104927822], [104928641, 104928765], [104930668, 104930715], [104932927, 104933226]] None
ENST00000511046 [[104927740, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934236]] None
NM_001100117 [[104512975, 104513290], [104709313, 104709524], [104778454, 104778765], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105266656]] [[104513114, 104513290], [104709313, 104709524], [104778454, 104778765], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104940069, 104940117], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
NM_001282881 [[104831415, 104831857], [104897525, 104898451], [104922548, 104922757], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105266656]] [[104831735, 104831857], [104897525, 104898451], [104922548, 104922757], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
NM_014677 [[104831415, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105266656]] [[104831735, 104831857], [104897525, 104898451], [104922361, 104922429], [104924280, 104924400], [104927722, 104927822], [104928641, 104928765], [104930668, 104930715], [104933899, 104934012], [104943490, 104943621], [104948778, 104948950], [104955000, 104955154], [104973292, 104973361], [104987577, 104987734], [105001532, 105001649], [105010412, 105010478], [105025669, 105025849], [105026733, 105026843], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
NM_001282882 [[105235562, 105236021], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105266653]] [[105235879, 105236021], [105257143, 105257285], [105260928, 105261041], [105261714, 105261816], [105263251, 105263391], [105263829, 105264048]]
Promoter
Chrom Start End Description
chr8 104512465 104512483 CAGE_peak_16_at_RIMS2_5end
chr8 104512701 104512710 CAGE_peak_23_at_RIMS2_5end
chr8 104512760 104512769 CAGE_peak_29_at_RIMS2_5end
chr8 104512783 104512794 CAGE_peak_19_at_RIMS2_5end
chr8 104512807 104512822 CAGE_peak_12_at_RIMS2_5end
chr8 104512831 104512852 CAGE_peak_5_at_RIMS2_5end
chr8 104512857 104512874 CAGE_peak_6_at_RIMS2_5end
chr8 104512995 104513023 CAGE_peak_2_at_RIMS2_5end
chr8 104513086 104513112 CAGE_peak_7_at_RIMS2_5end
chr8 104831171 104831203 CAGE_peak_9_at_RIMS2_5end
chr8 104831268 104831279 CAGE_peak_17_at_RIMS2_5end
chr8 104831402 104831413 CAGE_peak_10_at_RIMS2_5end
chr8 104831416 104831427 CAGE_peak_8_at_RIMS2_5end
chr8 104831440 104831453 CAGE_peak_3_at_RIMS2_5end
chr8 104831455 104831462 CAGE_peak_20_at_RIMS2_5end
chr8 104831472 104831510 CAGE_peak_1_at_RIMS2_5end
chr8 104831554 104831555 CAGE_peak_37_at_RIMS2_5end
chr8 104892589 104892598 CAGE_peak_36_at_RIMS2_5end
chr8 104892639 104892652 CAGE_peak_24_at_RIMS2_5end
chr8 104892668 104892678 CAGE_peak_38_at_RIMS2_5end
chr8 104892850 104892852 CAGE_peak_49_at_RIMS2_5end
chr8 104892856 104892875 CAGE_peak_15_at_RIMS2_5end
chr8 105235398 105235417 CAGE_peak_28_at_RIMS2_5end
chr8 105235550 105235571 CAGE_peak_11_at_RIMS2_5end
chr8 105235572 105235610 CAGE_peak_4_at_RIMS2_5end
chr8 105235613 105235625 CAGE_peak_25_at_RIMS2_5end
chr8 105235707 105235716 CAGE_peak_18_at_RIMS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I104272 104272611 104273884 0.56 [{'connected_gene': 'RIMS2', 'score': 4.72}, {'connected_gene': 'PIR34879', 'score': 0.39}, {'connected_gene': 'DCSTAMP', 'score': 0.2}]
chr8 GH08I104283 104283602 104284660 0.2 [{'connected_gene': 'RIMS2', 'score': 4.07}, {'connected_gene': 'PIR34879', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.23}]
chr8 GH08I104277 104277805 104279567 0.97 [{'connected_gene': 'RIMS2', 'score': 5.23}, {'connected_gene': 'LRP12', 'score': 1.28}, {'connected_gene': 'PIR34879', 'score': 0.37}, {'connected_gene': 'DCSTAMP', 'score': 0.21}]
chr8 GH08I103498 103498297 103502462 1.97 [{'connected_gene': 'RIMS2', 'score': 576.82}, {'connected_gene': 'LOC105375690', 'score': 563.08}, {'connected_gene': 'SLC25A32', 'score': 12.38}, {'connected_gene': 'ENSG00000271830', 'score': 0.37}]
chr8 GH08I103645 103645673 103647696 0.2 [{'connected_gene': 'RIMS2', 'score': 26.9}, {'connected_gene': 'LOC105375690', 'score': 12.43}, {'connected_gene': 'TARBP2P1', 'score': 0.39}, {'connected_gene': 'PIR62735', 'score': 0.31}]
chr8 GH08I103900 103900710 103905557 0.46 [{'connected_gene': 'RIMS2', 'score': 19.25}, {'connected_gene': 'LOC105375690', 'score': 9.6}, {'connected_gene': 'LOC105375689', 'score': 0.15}, {'connected_gene': 'ENSG00000239344', 'score': 0.12}]
chr8 GH08I103980 103980593 103980842 0.56 [{'connected_gene': 'RIMS2', 'score': 5.78}, {'connected_gene': 'LOC105375689', 'score': 0.31}, {'connected_gene': 'ENSG00000239344', 'score': 0.08}]
chr8 GH08I103893 103893256 103894838 0.2 [{'connected_gene': 'RIMS2', 'score': 11.5}, {'connected_gene': 'LOC105375689', 'score': 0.14}, {'connected_gene': 'ENSG00000239344', 'score': 0.13}]
chr8 GH08I103819 103819220 103819279 0.61 [{'connected_gene': 'RIMS2', 'score': 550.06}, {'connected_gene': 'ENSG00000239344', 'score': 0.23}, {'connected_gene': 'LOC105375689', 'score': 0.09}]
chr8 GH08I104072 104072428 104073391 0.38 [{'connected_gene': 'RIMS2', 'score': 4.37}, {'connected_gene': 'LOC105375688', 'score': 0.28}, {'connected_gene': 'LOC105375689', 'score': 0.2}]
chr8 GH08I104222 104222916 104224411 1.94 [{'connected_gene': 'RIMS2', 'score': 550.03}, {'connected_gene': 'PIR34879', 'score': 0.28}, {'connected_gene': 'LOC105375688', 'score': 0.14}]
chr8 GH08I103319 103319477 103319861 0.22 [{'connected_gene': 'FZD6', 'score': 11.92}, {'connected_gene': 'BAALC-AS1', 'score': 11.92}, {'connected_gene': 'RIMS2', 'score': 1.59}, {'connected_gene': 'GC08P103328', 'score': 0.44}]
chr8 GH08I104175 104175055 104176662 0.75 [{'connected_gene': 'DCSTAMP', 'score': 4.81}, {'connected_gene': 'RIMS2', 'score': 4.23}, {'connected_gene': 'LOC105375688', 'score': 0.21}, {'connected_gene': 'PIR34879', 'score': 0.18}]
chr8 GH08I104323 104323213 104324410 0.73 [{'connected_gene': 'DCSTAMP', 'score': 7.54}, {'connected_gene': 'RIMS2', 'score': 4.79}, {'connected_gene': 'PIR34879', 'score': 0.21}]
chr8 GH08I104325 104325533 104326334 0.94 [{'connected_gene': 'DCSTAMP', 'score': 5.52}, {'connected_gene': 'LOC105375690', 'score': 4.32}, {'connected_gene': 'RIMS2', 'score': 3.99}, {'connected_gene': 'PIR34879', 'score': 0.2}]
chr8 GH08I103652 103652333 103652482 0.66 [{'connected_gene': 'TARBP2P1', 'score': 0.44}, {'connected_gene': 'PIR62735', 'score': 0.29}, {'connected_gene': 'RIMS2', 'score': 0.1}]
chr8 GH08I103676 103676033 103676202 0.31 [{'connected_gene': 'TARBP2P1', 'score': 0.37}, {'connected_gene': 'RPS6P9', 'score': 0.16}, {'connected_gene': 'RIMS2', 'score': 0.1}]
chr8 GH08I103512 103512133 103512322 0.69 [{'connected_gene': 'DCAF13', 'score': 11.59}, {'connected_gene': 'SLC25A32', 'score': 11.59}, {'connected_gene': 'LINC01181', 'score': 10.13}, {'connected_gene': 'FZD6', 'score': 10.1}, {'connected_gene': 'BAALC-AS1', 'score': 10.1}, {'connected_gene': 'RIMS2', 'score': 0.39}, {'connected_gene': 'LOC105375690', 'score': 0.39}, {'connected_gene': 'ENSG00000255105', 'score': 0.25}]
chr8 GH08I103650 103650455 103651802 0.63 [{'connected_gene': 'LOC105375690', 'score': 6.01}, {'connected_gene': 'RIMS2', 'score': 5.14}, {'connected_gene': 'TARBP2P1', 'score': 0.44}, {'connected_gene': 'PIR62735', 'score': 0.31}]
chr8 GH08I104028 104028519 104030974 0.38 [{'connected_gene': 'LOC105375690', 'score': 7.11}, {'connected_gene': 'RIMS2', 'score': 5.77}, {'connected_gene': 'LOC105375689', 'score': 0.34}, {'connected_gene': 'LOC105375688', 'score': 0.18}]
chr8 GH08I103803 103803243 103804462 0.2 [{'connected_gene': 'LOC105375690', 'score': 10.04}, {'connected_gene': 'RIMS2', 'score': 6.76}, {'connected_gene': 'ENSG00000239344', 'score': 0.28}, {'connected_gene': 'LOC105375689', 'score': 0.08}]
chr8 GH08I103779 103779964 103780237 0.22 [{'connected_gene': 'LOC105375690', 'score': 5.96}, {'connected_gene': 'RIMS2', 'score': 1.58}, {'connected_gene': 'ENSG00000239344', 'score': 0.39}, {'connected_gene': 'LOC105375689', 'score': 0.07}]
chr8 GH08I103623 103623633 103624578 0.49 [{'connected_gene': 'LOC105375690', 'score': 8.8}, {'connected_gene': 'PIR62735', 'score': 0.77}, {'connected_gene': 'TARBP2P1', 'score': 0.28}, {'connected_gene': 'RIMS2', 'score': 0.13}]
chr8 GH08I103707 103707221 103707902 0.62 [{'connected_gene': 'LOC105375690', 'score': 8.75}, {'connected_gene': 'TARBP2P1', 'score': 0.25}, {'connected_gene': 'RPS6P9', 'score': 0.21}, {'connected_gene': 'RIMS2', 'score': 0.08}]
chr8 GH08I103677 103676233 103676422 0.31 [{'connected_gene': 'LOC105375690', 'score': 10.1}, {'connected_gene': 'TARBP2P1', 'score': 0.37}, {'connected_gene': 'RPS6P9', 'score': 0.16}, {'connected_gene': 'RIMS2', 'score': 0.1}]
chr8 GH08I103981 103980373 103980562 0.52 [{'connected_gene': 'LOC105375689', 'score': 0.31}, {'connected_gene': 'ENSG00000239344', 'score': 0.08}, {'connected_gene': 'RIMS2', 'score': 0.04}]
chr8 GH08I103560 103560676 103561869 0.2 [{'connected_gene': 'ENSG00000255105', 'score': 550.77}, {'connected_gene': 'RIMS2', 'score': 20.27}, {'connected_gene': 'LOC105375690', 'score': 8.89}, {'connected_gene': 'GC08M103569', 'score': 0.44}]
chr8 GH08I103878 103878273 103878422 0.2 [{'connected_gene': 'ENSG00000239344', 'score': 0.14}, {'connected_gene': 'LOC105375689', 'score': 0.13}, {'connected_gene': 'RIMS2', 'score': 0.05}]
chr8 GH08I104199 104199426 104201066 0.59 [{'connected_gene': 'PIR34879', 'score': 0.22}, {'connected_gene': 'LOC105375688', 'score': 0.17}, {'connected_gene': 'RIMS2', 'score': 0.02}]
chr8 GH08I103597 103597225 103597612 0.49 [{'connected_gene': 'PIR60505', 'score': 0.34}, {'connected_gene': 'LOC101101841', 'score': 0.31}, {'connected_gene': 'RIMS2', 'score': 0.15}]

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