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
ENST00000353278 [[45796941, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837962]] [[45800469, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837911]]
ENST00000358525 [[45796941, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45838027]] [[45800469, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837911]]
ENST00000456124 [[45797495, 45798250], [45799729, 45799943], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837975]] [[45799928, 45799943], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837911]]
ENST00000473146 [[45799995, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45813831]] None
ENST00000493980 [[45801471, 45801514], [45804404, 45804564], [45807028, 45807262]] None
ENST00000413781 [[45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45837790, 45838027]] [[45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45837790, 45837911]]
ENST00000470226 [[45831792, 45832014], [45833124, 45833220], [45837790, 45837852]] None
NM_020208 [[45796940, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45838035]] [[45800469, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45813996, 45814107], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837911]]
NM_022405 [[45796940, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45838035]] [[45800469, 45800619], [45801348, 45801514], [45804404, 45804564], [45807028, 45807233], [45811700, 45811863], [45812708, 45812950], [45817252, 45817480], [45821500, 45821592], [45823574, 45823715], [45837790, 45837911]]
Promoter
Chrom Start End Description
chr3 45837959 45837973 CAGE_peak_3_at_SLC6A20_5end
chr3 45838011 45838034 CAGE_peak_2_at_SLC6A20_5end
chr3 45838037 45838084 CAGE_peak_1_at_SLC6A20_5end
chr3 45838106 45838115 CAGE_peak_4_at_SLC6A20_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I035644 35644343 35653366 2.43 [{'connected_gene': 'CD72', 'score': 566.51}, {'connected_gene': 'SIT1', 'score': 550.77}, {'connected_gene': 'ARHGEF39', 'score': 17.23}, {'connected_gene': 'TMEM8B', 'score': 6.5}, {'connected_gene': 'CCDC107', 'score': 5.61}, {'connected_gene': 'CA9', 'score': 5.52}, {'connected_gene': 'IL11RA', 'score': 4.4}, {'connected_gene': 'LOC101926948', 'score': 0.77}]
chr9 GH09I035616 35616062 35622446 2.04 [{'connected_gene': 'CD72', 'score': 560.47}, {'connected_gene': 'CCDC107', 'score': 12.18}, {'connected_gene': 'RN7SL22P', 'score': 12.13}, {'connected_gene': 'ARHGEF39', 'score': 12.12}, {'connected_gene': 'SIT1', 'score': 11.72}, {'connected_gene': 'CA9', 'score': 11.22}, {'connected_gene': 'FAM166B', 'score': 11.0}, {'connected_gene': 'TLN1', 'score': 10.9}, {'connected_gene': 'CREB3', 'score': 10.9}, {'connected_gene': 'GBA2', 'score': 10.89}, {'connected_gene': 'ENSG00000228843', 'score': 10.42}, {'connected_gene': 'MSMP', 'score': 10.42}, {'connected_gene': 'RGP1', 'score': 10.42}, {'connected_gene': 'NPR2', 'score': 10.23}, {'connected_gene': 'ENSG00000227388', 'score': 10.22}, {'connected_gene': 'SPAG8', 'score': 10.0}, {'connected_gene': 'TMEM8B', 'score': 10.0}, {'connected_gene': 'HINT2', 'score': 9.71}, {'connected_gene': 'MIR4667', 'score': 0.39}, {'connected_gene': 'ENSG00000231393', 'score': 0.34}]
chr9 GH09I035694 35694810 35697363 0.89 [{'connected_gene': 'TPM2', 'score': 30.21}, {'connected_gene': 'ARHGEF39', 'score': 12.45}, {'connected_gene': 'RN7SL22P', 'score': 12.45}, {'connected_gene': 'CCDC107', 'score': 12.39}, {'connected_gene': 'SIT1', 'score': 12.13}, {'connected_gene': 'CA9', 'score': 11.84}, {'connected_gene': 'TLN1', 'score': 11.16}, {'connected_gene': 'CREB3', 'score': 11.16}, {'connected_gene': 'GBA2', 'score': 11.11}, {'connected_gene': 'RGP1', 'score': 10.9}, {'connected_gene': 'MSMP', 'score': 10.88}, {'connected_gene': 'ENSG00000228843', 'score': 10.88}, {'connected_gene': 'OR2S1P', 'score': 4.79}, {'connected_gene': 'MIR6852', 'score': 0.39}]
chr9 GH09I035679 35679739 35692495 2.29 [{'connected_gene': 'TPM2', 'score': 579.96}, {'connected_gene': 'GBA2', 'score': 25.49}, {'connected_gene': 'TMEM8B', 'score': 22.44}, {'connected_gene': 'TLN1', 'score': 21.55}, {'connected_gene': 'NPR2', 'score': 20.48}, {'connected_gene': 'CCDC107', 'score': 18.57}, {'connected_gene': 'SIT1', 'score': 11.69}, {'connected_gene': 'CREB3', 'score': 11.26}, {'connected_gene': 'RGP1', 'score': 10.93}, {'connected_gene': 'ENSG00000228843', 'score': 10.91}, {'connected_gene': 'MSMP', 'score': 10.91}, {'connected_gene': 'ENSG00000227388', 'score': 10.09}, {'connected_gene': 'FAM221B', 'score': 9.79}, {'connected_gene': 'FANCG', 'score': 4.44}, {'connected_gene': 'CA9', 'score': 0.39}, {'connected_gene': 'ARHGEF39', 'score': 0.39}]
chr3 GH03I045165 45165590 45170898 1.73 [{'connected_gene': 'CDCP1', 'score': 19.59}, {'connected_gene': 'TMEM158', 'score': 10.91}, {'connected_gene': 'ENSG00000202268', 'score': 10.14}, {'connected_gene': 'LARS2-AS1', 'score': 9.28}, {'connected_gene': 'SLC6A20', 'score': 4.96}, {'connected_gene': 'LIMD1', 'score': 1.48}, {'connected_gene': 'RPS24P8', 'score': 0.44}, {'connected_gene': 'LOC101928636', 'score': 0.29}]
chr9 GH09I034939 34939505 34940980 0.49 [{'connected_gene': 'SIT1', 'score': 7.23}, {'connected_gene': 'RPP25L', 'score': 4.38}, {'connected_gene': 'PIR41300', 'score': 0.77}, {'connected_gene': 'PIR62069', 'score': 0.26}, {'connected_gene': 'PHF24', 'score': 0.12}]
chr3 GH03I045173 45173069 45175848 0.31 [{'connected_gene': 'SLC6A20', 'score': 5.13}, {'connected_gene': 'CCR3', 'score': 3.99}, {'connected_gene': 'RPS24P8', 'score': 0.39}, {'connected_gene': 'LOC101928636', 'score': 0.31}]
chr3 GH03I045794 45794726 45797312 1.56 [{'connected_gene': 'SLC6A20', 'score': 550.77}, {'connected_gene': 'GC03M045749', 'score': 0.25}]
chr3 GH03I045793 45793629 45793778 0.4 [{'connected_gene': 'SLC6A20', 'score': 0.77}, {'connected_gene': 'GC03M045749', 'score': 0.26}]
chr3 GH03I045778 45778359 45780394 0.43 [{'connected_gene': 'LZTFL1', 'score': 10.9}, {'connected_gene': 'SDHDP4', 'score': 10.43}, {'connected_gene': 'CCR9', 'score': 10.42}, {'connected_gene': 'CCR2', 'score': 9.28}, {'connected_gene': 'SACM1L', 'score': 5.56}, {'connected_gene': 'SLC6A20', 'score': 0.37}, {'connected_gene': 'GC03M045749', 'score': 0.31}]
chr3 GH03I045816 45816034 45819818 1 [{'connected_gene': 'LZTFL1', 'score': 10.99}, {'connected_gene': 'CCR9', 'score': 10.03}, {'connected_gene': 'SDHDP4', 'score': 10.03}, {'connected_gene': 'SLC6A20', 'score': 5.75}, {'connected_gene': 'CXCR6', 'score': 4.59}, {'connected_gene': 'PIR58059', 'score': 0.44}]
chr3 GH03I045834 45834134 45835796 0.2 [{'connected_gene': 'LZTFL1', 'score': 11.04}, {'connected_gene': 'CXCR6', 'score': 11.02}, {'connected_gene': 'SDHDP4', 'score': 10.99}, {'connected_gene': 'CCR9', 'score': 10.98}, {'connected_gene': 'SLC6A20', 'score': 5.62}, {'connected_gene': 'PIR58059', 'score': 0.44}, {'connected_gene': 'GC03P045849', 'score': 0.39}]
chr3 GH03I045860 45860599 45862218 1 [{'connected_gene': 'SDHDP4', 'score': 11.61}, {'connected_gene': 'SLC6A20', 'score': 11.61}, {'connected_gene': 'CCR9', 'score': 11.59}, {'connected_gene': 'LZTFL1', 'score': 10.76}, {'connected_gene': 'LIMD1', 'score': 9.65}, {'connected_gene': 'LARS2', 'score': 5.31}, {'connected_gene': 'GC03P045849', 'score': 0.39}, {'connected_gene': 'GC03M045883', 'score': 0.34}]
chr3 GH03I045177 45177990 45179030 0.93 [{'connected_gene': 'ZNF660', 'score': 18.84}, {'connected_gene': 'ZNF197', 'score': 15.48}, {'connected_gene': 'ZNF502', 'score': 14.09}, {'connected_gene': 'ENSG00000272077', 'score': 13.18}, {'connected_gene': 'SACM1L', 'score': 11.26}, {'connected_gene': 'ZKSCAN7', 'score': 11.11}, {'connected_gene': 'LZTFL1', 'score': 11.09}, {'connected_gene': 'ZNF197-AS1', 'score': 11.01}, {'connected_gene': 'ZNF501', 'score': 11.0}, {'connected_gene': 'CDCP1', 'score': 5.69}, {'connected_gene': 'SLC6A20', 'score': 4.54}, {'connected_gene': 'RPS24P8', 'score': 0.37}, {'connected_gene': 'LOC101928636', 'score': 0.34}]
chr3 GH03I045771 45771481 45777947 0.79 [{'connected_gene': 'SACM1L', 'score': 18.58}, {'connected_gene': 'RN7SL145P', 'score': 13.27}, {'connected_gene': 'SLC6A20', 'score': 12.19}, {'connected_gene': 'LZTFL1', 'score': 11.15}, {'connected_gene': 'SDHDP4', 'score': 10.16}, {'connected_gene': 'CCR9', 'score': 10.16}, {'connected_gene': 'LIMD1', 'score': 9.26}, {'connected_gene': 'CDCP1', 'score': 4.87}, {'connected_gene': 'GC03M045749', 'score': 0.34}]
chr9 GH09I035611 35611364 35611513 0.57 [{'connected_gene': 'CCDC107', 'score': 12.15}, {'connected_gene': 'ARHGEF39', 'score': 12.11}, {'connected_gene': 'RN7SL22P', 'score': 12.11}, {'connected_gene': 'SIT1', 'score': 11.62}, {'connected_gene': 'FAM166B', 'score': 11.03}, {'connected_gene': 'CA9', 'score': 10.84}, {'connected_gene': 'TLN1', 'score': 10.72}, {'connected_gene': 'CREB3', 'score': 10.72}, {'connected_gene': 'GBA2', 'score': 10.71}, {'connected_gene': 'MIR4667', 'score': 0.77}, {'connected_gene': 'ENSG00000231393', 'score': 0.29}, {'connected_gene': 'CD72', 'score': 0.28}]
chr3 GH03I045761 45761229 45761378 0.75 [{'connected_gene': 'CXCR6', 'score': 10.91}, {'connected_gene': 'GC03M045749', 'score': 0.39}, {'connected_gene': 'SLC6A20', 'score': 0.28}]
chr3 GH03I045782 45782899 45784575 0.58 [{'connected_gene': 'CXCR6', 'score': 10.27}, {'connected_gene': 'LZTFL1', 'score': 10.2}, {'connected_gene': 'CCR9', 'score': 10.18}, {'connected_gene': 'SDHDP4', 'score': 10.18}, {'connected_gene': 'LIMD1', 'score': 9.67}, {'connected_gene': 'SLC6A20', 'score': 0.39}, {'connected_gene': 'GC03M045749', 'score': 0.29}]
chr3 GH03I045837 45837840 45839189 0.46 [{'connected_gene': 'CXCR6', 'score': 10.65}, {'connected_gene': 'LZTFL1', 'score': 10.6}, {'connected_gene': 'CCR9', 'score': 10.4}, {'connected_gene': 'SDHDP4', 'score': 10.4}, {'connected_gene': 'SLC6A20', 'score': 5.58}, {'connected_gene': 'FYCO1', 'score': 4.76}, {'connected_gene': 'GC03P045849', 'score': 0.39}, {'connected_gene': 'PIR58059', 'score': 0.39}]
chr9 GH09I035678 35678702 35679646 0.4 [{'connected_gene': 'NPR2', 'score': 14.21}, {'connected_gene': 'SIT1', 'score': 11.36}, {'connected_gene': 'TLN1', 'score': 10.63}, {'connected_gene': 'CREB3', 'score': 10.63}, {'connected_gene': 'GBA2', 'score': 10.6}, {'connected_gene': 'RGP1', 'score': 10.41}, {'connected_gene': 'MSMP', 'score': 10.4}, {'connected_gene': 'ENSG00000228843', 'score': 10.4}, {'connected_gene': 'ARHGEF39', 'score': 9.47}, {'connected_gene': 'TMEM8B', 'score': 9.46}, {'connected_gene': 'FAM221B', 'score': 9.45}, {'connected_gene': 'ENSG00000227388', 'score': 9.42}, {'connected_gene': 'TPM2', 'score': 6.2}, {'connected_gene': 'CA9', 'score': 0.44}]
chr9 GH09I035608 35608280 35610641 0.38 [{'connected_gene': 'MIR4667', 'score': 550.77}, {'connected_gene': 'CCDC107', 'score': 12.15}, {'connected_gene': 'RN7SL22P', 'score': 12.11}, {'connected_gene': 'ARHGEF39', 'score': 12.1}, {'connected_gene': 'SIT1', 'score': 11.61}, {'connected_gene': 'FAM166B', 'score': 11.03}, {'connected_gene': 'CA9', 'score': 10.84}, {'connected_gene': 'TLN1', 'score': 10.72}, {'connected_gene': 'CREB3', 'score': 10.72}, {'connected_gene': 'GBA2', 'score': 10.71}, {'connected_gene': 'CD72', 'score': 7.19}, {'connected_gene': 'TESK1', 'score': 0.77}, {'connected_gene': 'ENSG00000231393', 'score': 0.29}]
chr3 GH03I045847 45847029 45848843 0.2 [{'connected_gene': 'GC03P045849', 'score': 550.77}, {'connected_gene': 'LZTFL1', 'score': 11.2}, {'connected_gene': 'CCR9', 'score': 11.06}, {'connected_gene': 'SDHDP4', 'score': 11.06}, {'connected_gene': 'SLC6A20', 'score': 5.56}, {'connected_gene': 'CXCR6', 'score': 5.36}, {'connected_gene': 'PIR58059', 'score': 0.34}]

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