Special

HsaINT1007099 @ hg38

Intron Retention

Gene
Description
CMT1A duplicated region transcript 1 [Source:HGNC Symbol;Acc:HGNC:14379]
Coordinates
chr17:15588388-15593495:-
Coord C1 exon
chr17:15593337-15593495
Coord A exon
chr17:15589228-15593336
Coord C2 exon
chr17:15588388-15589227
Length
4109 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
TCTTTACTCTGCATCCACAGAAT
3' ss Score
8.35
Exon sequences
Seq C1 exon
AGAGGTGCTCGACGTGTCCCTTCTCTTCCTCCGGGTCATCAGCGCCTGTGCAGATGGCAAGATCCGAATTTACAATTTCTTCAATGGGAACTGTATGAAGGTGATAAAAGCCAATGGCAGAGGCGATCCTGTGCTGTCCTTCTTTATTCAGGGCAACAG
Seq A exon
GTGGGTGGTAGGTGTGGAGGTCAGAACTGTGAGTGATTCTGTTGGATTTTTTGATTTTTTTCCTCCCCTGGGATACCAGCCCTGGATTTGCTGTCAGGAGGAGAGAGTGTGCAATGCCTCTCTACAATTTTGGCTGGGTGGAGCAATAGTCTTGTGGTGGGGACTAACAGGGCTTTGCACAAAACTTAGTAATCAGGAAGCAATCAACTGTTCATTTTGACTTTTTTTTTTTTTGAGACATAGTTTCACTCTGTCGCACAGGCTGGAGTGCAGTGATGCGATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCAGTATGCCCGGCTAATTTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTCACCTTGAACTCCCAACCTCGTGATCCACCCGTCACGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCTGTTTTGACTCTTAATTCATCCTAGGTGTTTGTGGGAATTGCAGTGGGTGCAACATAACGCTTCTGTAAGGACCACAGTTCTACCAATGTGCAGCCCCTGCTTGCTCTTTGATCATGCCTTTGGCTGCCTGAGAGCTCTATCAGCTATCTTTGATGCCTCACTTCTAATGCAAAGAGACATATAGGAGAGTGGGGGGTGGCAGCAGCAGGGGGTACAGTGGGGGAAAGCTGAGCTGGTGAGCTTACAAAACCAGTACCATGACTGACTGCATTGTATACAGGACTGTGCTTTATATATGCGTAGACTCAGGGTGCTATTATATGAAAATAACCAAATAGAACTAACCTGTAAATTCTACTTCAAGCTCACTTGAGACATCTCTTAATGTCCCTAAACCATATTGCCTTCCTTTTAGTGAAACTTTATTAGTATTATTTACCATCTTAAAGAGGGCAGCCTGGTAATAAGGCTCAGTTAATGAACACTTTTCAGTCATGCTGCTAAAAAAAAAAAAAAAAAAAAAAAACTCTGGCCATTTTTTACTCACAGCATCCAAAGAAAGGTGTTTTTCTTTCGGCTTGAGTGAACGGAAGTCTAAAAGGGATTTCTTATTGGAATGACACCCCGCATTCCATTCCAGCAGTTCCAGCCAAAACAAGTTACTTTTCTAGAGAGTTTATGCTGTTGGTTAAGGTCTTAACATTGCAGCCTTTTGAAGCAGAAGGAAACCTGTATAGAGTATTTTCATTTCTTGTTTATAGTTAAGGGAAGAGCACAGAAAGGGGAAAGCCGCTTGCTTGTAAAACTGGTGGGTTAGGGAGGCAGTGCTGCGGGGGCACAGGAAGGGGACAGGGAGGGCAAGTTCCGGAGCTCTTTTGTCTATGGAGCATTAAAGTGGGGATCAGAGAAGTTAGAAATCATCTCACTTTATAAAGTATAGATGTTCTGTCTACATCTAGAGTGTGTGCAGAGATCCTGGAGTGACAGCATGGAGTGTGTGGTGTCTGTGTGGAGGGTCTATGAAGGAGAAGAGGCCTCCCCATTAGAGAGCTTTCCTCATTGCCAGCAGCAATAGTAATATTGGGTTTGGAAGCTGTGCTTCAAACAAACAAACAAACAAACAAACAAAAACACTGAATTTCAAGACATCTGTGTGCAGAGTACCTTCTTGGCACCCTAGGTACATGGCACTCACTCCAGGAACAGAAATTCATTTAAAAGCATTTTAACTTGAGGCCAGGCGCAGTGGCTCGTGCTTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTGAGTCCTGGAGTTTGAGCCCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACTAAAAACACAAAATGAGCTGGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCATCTCAAAAGAAAAAAAATGATTTTAAACATGACTATTAGCAGTTTAGCCAAATCCAGACTATCCTTAAACAAATAAGGGCTCTTGTCTGAATGTGCACTCCTAAGTGAGGACTTTTGAAAAGCTCTTTTTCTCTAGCCTCCGGGGAGGCAACTCCAGCCTGCACATGCTGAGGCTCTCTTCAGGAGGAAACTGCCTGGAAGTGTGACAAGGGCCTCTAGCCCTCAGCAAGAACCTGGGCCCTAGGACAACACTGCACAACAGTGGTGACCAAGTTCTCCATGGCCTGGGACTGAACTGCCCATACCAGTCTCCTGTACTACCTGTCCCTAAGGCTGTAATACTTGGCCCTGACTCTGGCCCTGTCTGGGTCTTCCCAGAAAGAGAAGGTTCTTGTTGCTTGGTGCCAGGTTTGAGGAAGTTGAATAGGGTTCAGGCACTCCTGCCAGGGATGGGGGTGTCTCCATCAGATAGGCAGGTGGCTCAGTGCAGGGACCCAAGTGCTGAAGTGGGGCTACACCCTTGAGGAAGGGGGATACTCCCCATGCACAGCCTAGGAAGTCCCACACTGTCTTTCATGGTCTCCACCTCAAATGTCTGCACAATCACTATAAAGGTTTGAGGGAAATAAGAGGGAAGAGGACAGTTGTGTTAAGAGGGAGAGGGAATTGGGGTCAAGTCAGGTGAGCTCCAGGTGGAACTAAGGAAGAGGAACGTGACCGGGAGCAGGAGGGCTGGTGGTGTGCAGGTGTGCTCTGTGAAGGTCAACTATAAACCAGGATGAACACGCAGATGTCATCTAGCCCAGGGATGCCAAGCCCAGGCTTTAAACCCTCCCTTCCCTCATCCACTGCAAACCTCACCAAAGGACCCCAGCACTCTTTCCCACCAGGCTGCAGGCGCCTCAGTCTTCAAAATAACAGCCAGAGGACAAGGCTGCATCGCTCAGCTTACAAACCAAACAAAATCTTCCATTTCCTGATCTGTGCCAGTCCCTCCACTGTATGAAGGAGGACTCCTGAATGATAACAACAGCATACAGATCCCAAATTGAGCCCTCACCATGGTCCAGCACCTTACAAATAACAATTCATTTCATCCTCACAATGACTCCAGGAGGGGAGAAGATTATTAGCCCCATGTGGGAGATGAGGAGACAGTGGCAGAAAGAGGCTGAATTCAGCCGCGAAGGATGCACAGCTCATGAGCGGTGGGGTCGGGCTCCCCATCCAGGCAGCGCCGCCGGCTTCCTTGCTCACCACCGCTTTGCTGACACTGCCTCCCACGTGGATGGGGCTCTGGTTTTAGGTTTATCACAGAACACACAAGCACATACGTTTTAGAATATGGTATTTGTAGATTCATTAAAATCTGACATTTACAGGATATTAAAGCCATTCTAAGAGACAATCATGGTAAAGGTGTAATCGCATTTGTAAGCTTGCCAAATTGGAGTGTAAGAGCTTTTATGAAAAGTTTCAGAAATGTGGCTTACAGGGTAACGGTTTATGGTCAACTGCCTTTTGATCTCTCATGTGAAAAATATGTACTTACATATATTGCAGGAAACCTCACCACTTCCTTCCTAAGTGTCGGTCAAAAACACTAATTACTTGACTAATTAGACTGTGAAACTTCCCTTACAGATGGTAAAAATGAGCTATTTTCACCCCACAAATTTAGTTGTGACATACCACCAAAAAAATGTAGGAATCTTTCAATAGTTTTACTATAGACAGTATGAACGATTTAAGCAAATCATATAAAAATAAATTAGAAACTAATGAAAATAATCTGCCCTTTCATAAGAGGGGAACGCAGGAGGCTGGCTCGTGAGATGAAACCCCTTTGATGGGAGACTGGAGGCCAGCTCCAGGTACCTTCTCCCCGCCCCATGAATTCGTTAGTCCTAGCTTCGTTTGTGATTTTCATCATAGCTTCAGGTACTTTCTTTATCCACCTGTAGTCACAGGTAGGCAGCACTGCTTCCTTTTTTTTCTCCCAGACATTCCCTACAAGGGAAAGTGTATGTCATGTGCACCCACCAGCCAGGATGACACGGTCTCTCTTTACTCTGCATCCACAG
Seq C2 exon
AATTTCAGTCTGCCACATCAGCACATTTGCTAAAAGAATTAACGTGGGATGGAATGGAATCGAACCAAGTGCTACAGCTCAGGGAGGAAATGCCTCCTTGACCGAGTGTGCTCATGTGAGACTCCACATCGCAGGACACTTACCAGCATCGAGGCTGCCCGTGGCCGCTGTCCAGCCCATGACAGGCGGGATGGCCCCAACCACAGCTCCGACCCATGTGTTGGCAATGCTGATCCTTTTCAGTGGTGTGTAGCAGCAGGTATACAGGAAAATGTTGAAGAGCCCCAGGGCTCCTGTGAGTGGATTCACCCCCAAGGTCAGAATGGCAACTCCTGGAACAGCACAACAAGTGGCAAAGGACACAGCTAGCAACGGGCTGGAAAAAGGCAGAGAACGTGGAGTGATCATCTCCAACTCAACTCAATCACACTGCCTAAAATCGGCACTGACAAAGTACAAATAATCCACCTATCCAGTAGAGGCAGCACTGATCTGGCTGATTCCTGGATATGGGGAATCCTCTTTATGAAACAAACTTACAATAAGAAAGAATATGTTTGTGGGAGCTCTGGCTGCTCTTCTTGATTTTGCTAGCTAAGAGTAAAGTGGTTAAGAGAGTCAGGATTAGAGTGTTCTGGATTCATATAGGTTCTGTCCCTTCCTGGCTATAGGGCAGCTAGGTTTCACTTACTCCTCTCTATAAGAGAAATGATCATCTTTTCCTCCTAGGGTTGAAGACTGACTGAGACAATGCCTCCTGCACAGTGTTCCATTTTATATTTAGTCATGAACAAACAACTTCAGACACAATATTGGAAGATTTGGGCAGAAAATACTACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241322:ENST00000354433:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains