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
ENST00000478238 [[102122425, 102122991], [102125345, 102125444]] None
ENST00000266743 [[102122425, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131726], [102133139, 102133204]] [[102122704, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131713]]
ENST00000478139 [[102122425, 102122758], [102122886, 102122991], [102125345, 102127452], [102128704, 102128822], [102130814, 102131730], [102133139, 102133250]] None
ENST00000392927 [[102122427, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131726], [102133128, 102133247]] [[102122704, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131713]]
ENST00000392924 [[102122650, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131730], [102133128, 102133191]] [[102122704, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131713]]
NM_001177949 [[102122425, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131730], [102133128, 102133250]] [[102122704, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131713]]
NM_153694 [[102122425, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131726], [102133128, 102133250]] [[102122704, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131713]]
NM_001177948 [[102122425, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131726], [102133139, 102133250]] [[102122704, 102122758], [102122886, 102122991], [102125345, 102125444], [102127352, 102127452], [102128704, 102128822], [102130814, 102130849], [102131009, 102131076], [102131580, 102131713]]
Promoter
Chrom Start End Description
chr12 102133233 102133245 CAGE_peak_1_at_SYCP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I101712 101712429 101716118 1.3 [{'connected_gene': 'GNPTAB', 'score': 26.35}, {'connected_gene': 'CHPT1', 'score': 22.62}, {'connected_gene': 'SYCP3', 'score': 11.35}, {'connected_gene': 'RNU6-101P', 'score': 11.09}, {'connected_gene': 'RNA5SP369', 'score': 10.11}, {'connected_gene': 'GC12P101721', 'score': 0.44}]
chr12 GH12I101791 101791683 101794228 1.3 [{'connected_gene': 'GNPTAB', 'score': 41.49}, {'connected_gene': 'CHPT1', 'score': 15.21}, {'connected_gene': 'RNA5SP369', 'score': 12.07}, {'connected_gene': 'SYCP3', 'score': 9.6}, {'connected_gene': 'DRAM1', 'score': 1.38}, {'connected_gene': 'RNU6-172P', 'score': 0.77}, {'connected_gene': 'RNA5SP368', 'score': 0.39}]
chr12 GH12I101907 101907781 101910400 1.27 [{'connected_gene': 'GNPTAB', 'score': 20.89}, {'connected_gene': 'RNA5SP369', 'score': 10.45}, {'connected_gene': 'SYCP3', 'score': 9.67}, {'connected_gene': 'DRAM1', 'score': 9.12}, {'connected_gene': 'CHPT1', 'score': 9.01}, {'connected_gene': 'PIR46358', 'score': 0.39}]
chr12 GH12I101742 101742227 101745478 0.89 [{'connected_gene': 'CHPT1', 'score': 38.4}, {'connected_gene': 'GNPTAB', 'score': 20.67}, {'connected_gene': 'RNA5SP369', 'score': 10.35}, {'connected_gene': 'SYCP3', 'score': 0.77}, {'connected_gene': 'GC12P101765', 'score': 0.34}]
chr12 GH12I101628 101628124 101629497 0.58 [{'connected_gene': 'CHPT1', 'score': 17.42}, {'connected_gene': 'SYCP3', 'score': 10.33}, {'connected_gene': 'MYBPC1', 'score': 10.27}, {'connected_gene': 'GC12P101636', 'score': 0.44}, {'connected_gene': 'LOC105369938', 'score': 0.44}]
chr12 GH12I101566 101565546 101567086 0.76 [{'connected_gene': 'CHPT1', 'score': 10.4}, {'connected_gene': 'SYCP3', 'score': 9.61}, {'connected_gene': 'MYBPC1', 'score': 0.77}, {'connected_gene': 'LOC105369935', 'score': 0.28}]
chr12 GH12I101561 101561343 101564238 0.31 [{'connected_gene': 'CHPT1', 'score': 10.4}, {'connected_gene': 'SYCP3', 'score': 9.61}, {'connected_gene': 'MYBPC1', 'score': 0.44}, {'connected_gene': 'LOC105369935', 'score': 0.28}]
chr12 GH12I101565 101565023 101565172 0.38 [{'connected_gene': 'CHPT1', 'score': 10.4}, {'connected_gene': 'SYCP3', 'score': 9.61}, {'connected_gene': 'MYBPC1', 'score': 0.77}, {'connected_gene': 'LOC105369935', 'score': 0.28}]
chr12 GH12I101595 101594703 101594852 0.66 [{'connected_gene': 'CHPT1', 'score': 14.14}, {'connected_gene': 'MYBPC1', 'score': 10.9}, {'connected_gene': 'SYCP3', 'score': 10.56}, {'connected_gene': 'LOC105369938', 'score': 0.34}]
chr12 GH12I101613 101613002 101614044 0.2 [{'connected_gene': 'CHPT1', 'score': 17.23}, {'connected_gene': 'MYBPC1', 'score': 10.56}, {'connected_gene': 'RNU6-101P', 'score': 10.41}, {'connected_gene': 'SYCP3', 'score': 9.98}, {'connected_gene': 'LOC105369938', 'score': 0.44}]
chr12 GH12I101606 101606859 101610174 1.14 [{'connected_gene': 'CHPT1', 'score': 15.41}, {'connected_gene': 'MYBPC1', 'score': 10.58}, {'connected_gene': 'RNU6-101P', 'score': 10.41}, {'connected_gene': 'SYCP3', 'score': 9.97}, {'connected_gene': 'LOC105369936', 'score': 5.76}, {'connected_gene': 'LOC105369938', 'score': 0.39}]
chr12 GH12I101582 101582479 101585217 0.4 [{'connected_gene': 'CHPT1', 'score': 11.08}, {'connected_gene': 'SPIC', 'score': 10.53}, {'connected_gene': 'RNA5SP367', 'score': 10.53}, {'connected_gene': 'RNU5E-5P', 'score': 10.52}, {'connected_gene': 'SYCP3', 'score': 10.47}, {'connected_gene': 'RNU6-101P', 'score': 9.62}, {'connected_gene': 'MYBPC1', 'score': 0.37}, {'connected_gene': 'LOC105369938', 'score': 0.29}]
chr12 GH12I101839 101839601 101839800 0.69 [{'connected_gene': 'CHPT1', 'score': 17.26}, {'connected_gene': 'RNU6-1183P', 'score': 12.35}, {'connected_gene': 'DRAM1', 'score': 12.33}, {'connected_gene': 'RNU6-101P', 'score': 11.23}, {'connected_gene': 'SYCP3', 'score': 10.2}, {'connected_gene': 'RNA5SP369', 'score': 0.77}]
chr12 GH12I101734 101734579 101738637 0.38 [{'connected_gene': 'CHPT1', 'score': 33.2}, {'connected_gene': 'RNU6-101P', 'score': 10.48}, {'connected_gene': 'GNPTAB', 'score': 6.1}, {'connected_gene': 'SYCP3', 'score': 0.77}, {'connected_gene': 'RNY1P16', 'score': 0.37}]
chr12 GH12I101725 101725470 101726555 0.2 [{'connected_gene': 'CHPT1', 'score': 17.29}, {'connected_gene': 'RNU6-101P', 'score': 10.9}, {'connected_gene': 'GNPTAB', 'score': 9.51}, {'connected_gene': 'RNY1P16', 'score': 0.44}, {'connected_gene': 'SYCP3', 'score': 0.39}]
chr12 GH12I101671 101671003 101672400 0.72 [{'connected_gene': 'CHPT1', 'score': 17.62}, {'connected_gene': 'LOC105369936', 'score': 15.61}, {'connected_gene': 'SYCP3', 'score': 10.6}, {'connected_gene': 'GC12P101665', 'score': 0.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.34}, {'connected_gene': 'MYBPC1', 'score': 0.15}]
chr12 GH12I101844 101844204 101844596 0.58 [{'connected_gene': 'DRAM1', 'score': 18.04}, {'connected_gene': 'RNU6-1183P', 'score': 13.07}, {'connected_gene': 'CHPT1', 'score': 9.84}, {'connected_gene': 'SYCP3', 'score': 9.8}, {'connected_gene': 'RNA5SP369', 'score': 0.44}]
chr12 GH12I101569 101569668 101571541 1.1 [{'connected_gene': 'SYCP3', 'score': 10.46}, {'connected_gene': 'CHPT1', 'score': 9.99}, {'connected_gene': 'MYBPC1', 'score': 0.77}, {'connected_gene': 'LOC105369938', 'score': 0.25}]
chr12 GH12I101591 101591033 101593930 0.8 [{'connected_gene': 'SYCP3', 'score': 10.01}, {'connected_gene': 'MYBPC1', 'score': 0.34}, {'connected_gene': 'LOC105369938', 'score': 0.31}]
chr12 GH12I101739 101739452 101739511 0.61 [{'connected_gene': 'SYCP3', 'score': 550.77}, {'connected_gene': 'RNY1P16', 'score': 0.37}, {'connected_gene': 'CHPT1', 'score': 0.26}]
chr12 GH12I101707 101707222 101707412 1.02 [{'connected_gene': 'SYCP3', 'score': 10.72}, {'connected_gene': 'RNU6-101P', 'score': 10.12}, {'connected_gene': 'GC12P101721', 'score': 0.39}, {'connected_gene': 'CHPT1', 'score': 0.39}]
chr12 GH12I101709 101709418 101711478 0.69 [{'connected_gene': 'SYCP3', 'score': 10.92}, {'connected_gene': 'RNU6-101P', 'score': 10.84}, {'connected_gene': 'RNA5SP369', 'score': 9.85}, {'connected_gene': 'GNPTAB', 'score': 9.85}, {'connected_gene': 'CHPT1', 'score': 5.59}, {'connected_gene': 'GC12P101721', 'score': 0.44}]
chr12 GH12I101594 101594922 101594981 0.96 [{'connected_gene': 'MYBPC1', 'score': 560.9}, {'connected_gene': 'SYCP3', 'score': 10.56}, {'connected_gene': 'CHPT1', 'score': 10.14}, {'connected_gene': 'LOC105369938', 'score': 0.34}]
chr12 GH12I101596 101594307 101594646 0.4 [{'connected_gene': 'MYBPC1', 'score': 10.95}, {'connected_gene': 'SYCP3', 'score': 10.56}, {'connected_gene': 'CHPT1', 'score': 10.14}, {'connected_gene': 'LOC105369938', 'score': 0.34}]
chr12 GH12I101841 101839443 101839501 0.49 [{'connected_gene': 'RNU6-1183P', 'score': 12.35}, {'connected_gene': 'DRAM1', 'score': 12.33}, {'connected_gene': 'RNU6-101P', 'score': 11.23}, {'connected_gene': 'SYCP3', 'score': 10.21}, {'connected_gene': 'RNA5SP369', 'score': 0.77}]
chr12 GH12I101838 101838763 101838912 0.31 [{'connected_gene': 'RNU6-1183P', 'score': 12.35}, {'connected_gene': 'DRAM1', 'score': 12.33}, {'connected_gene': 'RNU6-101P', 'score': 11.23}, {'connected_gene': 'SYCP3', 'score': 10.21}, {'connected_gene': 'RNA5SP369', 'score': 0.77}]
chr12 GH12I101840 101839843 101840200 0.89 [{'connected_gene': 'RNU6-1183P', 'score': 12.35}, {'connected_gene': 'DRAM1', 'score': 12.33}, {'connected_gene': 'RNU6-101P', 'score': 11.23}, {'connected_gene': 'RNU6-172P', 'score': 10.57}, {'connected_gene': 'SYCP3', 'score': 10.2}, {'connected_gene': 'CHPT1', 'score': 9.8}, {'connected_gene': 'RNA5SP369', 'score': 0.77}]
chr12 GH12I101797 101797703 101797742 0.22 [{'connected_gene': 'RNU6-172P', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.74}, {'connected_gene': 'RNA5SP369', 'score': 12.72}, {'connected_gene': 'SYCP3', 'score': 9.39}]
chr12 GH12I101614 101614089 101620079 1.54 [{'connected_gene': 'LOC105369938', 'score': 550.77}, {'connected_gene': 'MYBPC1', 'score': 35.13}, {'connected_gene': 'CHPT1', 'score': 17.07}, {'connected_gene': 'RNU6-101P', 'score': 10.42}, {'connected_gene': 'SYCP3', 'score': 10.03}, {'connected_gene': 'LOC105369936', 'score': 9.15}]
chr12 GH12I101669 101669942 101670800 1.02 [{'connected_gene': 'LOC105369936', 'score': 18.24}, {'connected_gene': 'NUP37', 'score': 15.67}, {'connected_gene': 'ENSG00000257222', 'score': 12.52}, {'connected_gene': 'CHPT1', 'score': 12.51}, {'connected_gene': 'UTP20', 'score': 12.3}, {'connected_gene': 'SYCP3', 'score': 10.6}, {'connected_gene': 'GC12P101665', 'score': 0.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.31}, {'connected_gene': 'MYBPC1', 'score': 0.15}]
chr12 GH12I101653 101653072 101654085 0.8 [{'connected_gene': 'LOC105369936', 'score': 37.9}, {'connected_gene': 'CHPT1', 'score': 11.79}, {'connected_gene': 'SYCP3', 'score': 10.37}, {'connected_gene': 'MYBPC1', 'score': 10.33}, {'connected_gene': 'GC12P101636', 'score': 0.37}]
chr12 GH12I101780 101780401 101781020 0.31 [{'connected_gene': 'RNA5SP368', 'score': 550.77}, {'connected_gene': 'GC12P101780', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.27}, {'connected_gene': 'RNA5SP369', 'score': 12.26}, {'connected_gene': 'SYCP3', 'score': 10.3}, {'connected_gene': 'CHPT1', 'score': 9.74}, {'connected_gene': 'RNU6-172P', 'score': 0.37}]
chr12 GH12I101929 101929915 101940421 1.61 [{'connected_gene': 'RPL9P24', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 15.23}, {'connected_gene': 'WASHC3', 'score': 10.53}, {'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'RNA5SP369', 'score': 10.14}, {'connected_gene': 'RNU6-101P', 'score': 9.92}, {'connected_gene': 'SYCP3', 'score': 9.42}, {'connected_gene': 'DRAM1', 'score': 8.55}, {'connected_gene': 'CHPT1', 'score': 7.05}, {'connected_gene': 'GC12P101929', 'score': 0.44}]
chr12 GH12I101759 101759563 101759692 0.64 [{'connected_gene': 'GC12P101765', 'score': 0.44}, {'connected_gene': 'SYCP3', 'score': 0.34}, {'connected_gene': 'GNPTAB', 'score': 0.19}]
chr12 GH12I101763 101763467 101763986 0.38 [{'connected_gene': 'GC12P101765', 'score': 550.77}, {'connected_gene': 'RNU6-101P', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 18.45}, {'connected_gene': 'SYCP3', 'score': 0.34}]
chr12 GH12I101764 101764543 101764692 0.52 [{'connected_gene': 'GC12P101765', 'score': 550.77}, {'connected_gene': 'RNU6-101P', 'score': 550.77}, {'connected_gene': 'SYCP3', 'score': 0.31}, {'connected_gene': 'GNPTAB', 'score': 0.2}]
chr12 GH12I101771 101771515 101773531 0.66 [{'connected_gene': 'GC12M101774', 'score': 550.77}, {'connected_gene': 'ST13P22', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 29.85}, {'connected_gene': 'CHPT1', 'score': 21.75}, {'connected_gene': 'RNA5SP369', 'score': 12.05}, {'connected_gene': 'RNU6-1183P', 'score': 11.16}, {'connected_gene': 'DRAM1', 'score': 11.15}, {'connected_gene': 'SYCP3', 'score': 10.81}, {'connected_gene': 'RNU6-101P', 'score': 0.44}]
chr12 GH12I101773 101773683 101773892 0.68 [{'connected_gene': 'GC12M101774', 'score': 550.77}, {'connected_gene': 'ST13P22', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.06}, {'connected_gene': 'RNA5SP369', 'score': 12.05}, {'connected_gene': 'RNU6-1183P', 'score': 11.16}, {'connected_gene': 'DRAM1', 'score': 11.15}, {'connected_gene': 'SYCP3', 'score': 10.47}, {'connected_gene': 'GC12P101780', 'score': 0.44}]
chr12 GH12I101924 101924313 101928600 1.1 [{'connected_gene': 'ENSG00000257202', 'score': 550.77}, {'connected_gene': 'GC12P101926', 'score': 550.77}, {'connected_gene': 'GC12P101925', 'score': 550.77}, {'connected_gene': 'RNA5SP369', 'score': 10.15}, {'connected_gene': 'GNPTAB', 'score': 10.14}, {'connected_gene': 'IGF1', 'score': 9.85}, {'connected_gene': 'SYCP3', 'score': 9.43}, {'connected_gene': 'DRAM1', 'score': 9.26}, {'connected_gene': 'CHPT1', 'score': 8.36}, {'connected_gene': 'GC12P101929', 'score': 0.77}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.