Special

HsaINT0181291 @ hg38

Intron Retention

Gene
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61265122-61267544:-
Coord C1 exon
chr11:61267462-61267544
Coord A exon
chr11:61265213-61267461
Coord C2 exon
chr11:61265122-61265212
Length
2249 bp
Sequences
Splice sites
5' ss Seq
CTGGTATGG
5' ss Score
7.13
3' ss Seq
GTGTTTTCTGTGTCCTGCAGCTG
3' ss Score
11.69
Exon sequences
Seq C1 exon
GCTGCACCTACACAGGCAGAATCTTCTATAACAACGAGACCTTCCCGTCTGTGCTGGACCCATGTCTGAGCTGCATCTGCCTG
Seq A exon
GTATGGACCACCCAGATCTGACTCCCGCCCCTGGAAACTCCCCCACAACTGACATCGGCTCCTGAATCCCAGAGGCAAAATCCAGAGACCTCCAAGACAAGGGATGCTTCTGGTTCATGGTGGAAGTCAGCTCCCTCCAGTCCTGCCCAGGGTGACCCTTTAGACAGGGCCAGAGAAATTTTTTTTGTTTGTTTTTGAGATGGAGCCTTGTTCTGTCACCCAGGCTCCCAGGTTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCTTCCCGAGTTCAAGCGATTCTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCGCCATGTTGGCCAGGCCGTTCCTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTATGCCCAGCCCAGAGAAATATTTTTAAACCTGGCTGGCAAAGTCCTCTGCTTCCGGGTTACCCCCTAGAGAGAGTCTTAGGGATTCTTGATGAGGGTGGAGGTGAAACGCACAAACCCAGAATCCAGTACTGGAACCTTTTCAGTAGACCCATGTGGTCAAGCTCTTGCAGTGTGCCACGCCCTTCATAGGCATGCACTCAGCTAATCCATTCAAGAGTTTATCATCTCATTCTTCTGGATGAGAAAACCAAGGCACAGAGAGAGTCTTTGCTCAGATCCCGTAACTAGTTAATCAAAGTACTGAGAATGGAACCCTAGTATTGTGATTCTGAGATGCATATTTCTTCTCCTGGGTCATACTGCCTCTCAGTCTGAAAAAGCATGTCCCATAGTATCATTTAGTTTTTGGAAAATGAAAAAAAAATTGTTTTTTTTTTGAGACAGGGTGTTGCTCTGTCACCCAGGTTGAAGTGCAGTAGCGTGATCTTGGCTCACTGCAACCTTGACCTCCTGGGCTCAAGCGATCCTCCTATGTCAGCCTCCCAAGTAGGTGGGATCACACCCAGCTGGGATTACCACCACACCTGGCTAATTAAAAAATTCTTTTCATAGAGATGGGGTCGTGTTGTATTGCTCAGGCTGGTATGGAACTTCTGGGCTCAGGCAATCCTCGCACCTTGGCCTCCCAAGGTTTGGGGATTACAGGCATGAGCCACTGCACCCAGCCAAAAATTTTGTTTTTAGCTTTTTTAAAAATGTAGCTAAAAAATTTTACATAAAAAAATACTGAGACAGGATCTTGCTCTGTTGCCTAGGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTACCTCAGCTTCCCAAAGTGCTGGATTATAGGTGTGAGCCACTATGCCTGGATGAAAAAAATAATTATTTTATTTTATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAACGATTCTCCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCAGCTAATTTTTGTGCTTTTAGTAGAGTCGGAGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCTCCTGCCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACTCCGGGTAAAAAAATTCTTCATGCTTAGCATGCTGACGCCCTGAATGCGGGATGACGCTGCTTTGCTGGTGTGGGTGCAGATGCGGTATTTCTTTGGTGATCAGTGAGCCTCAGCAGAGTACATGCGTGACAAGGGACACGGTCTGCAGAAAGATTGAGAAACTCACGGTAAACAGCCCTGAGCTACTTACCCTGAGTGACCCACTGCACGTAGGCCCTAGTTGTTCTCAGCCTCGGGCTTTGGGGAACTTTGGCCCCTGGATCTTTCTCTATCGGGTTTTGGTGCTTATCTTTTCTGGGCAGTTTATGCAACAGGCACCCGTTAACAGATGCCCTCCGTGGACAAGTCCATGTTCTTACCTTCGAGGGGCTTGAATTCTAGTGGGAAGTTGGACCCCAACAGAGAAAATGCGCCCCCTGCCCCACTGCCCCACCATGGACTCCTCCCACAATGTTGATTGTTCTGATGGACACTCAGTGGCTATAGGAGCGGCATCTTCCTGAGTGTCTTGTCAGCTGCCCTGAACCGAGGGCCTTGTGTGTTTTCTGTGTCCTGCAG
Seq C2 exon
CTGGGCTCAGTGGCCTGTTCCCCCGTGGACTGCCCCATCACCTGTACCTACCCTTTCCACCCTGACGGGGAGTGCTGCCCCGTGTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992:ENST00000335613:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0009313=VWC=PU(46.4=92.9)
A:
NA
C2:
PF0009313=VWC=PD(50.0=90.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains