HsaINT1046499 @ hg38
Intron Retention
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61268922-61271760:-
Coord C1 exon
chr11:61271675-61271760
Coord A exon
chr11:61269019-61271674
Coord C2 exon
chr11:61268922-61269018
Length
2656 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAAT
5' ss Score
6.6
3' ss Seq
GAAGTTCCTCCTTCCTCCAGGCA
3' ss Score
8.82
Exon sequences
Seq C1 exon
GCTGCTCTCTTGACGACAACGGGGTTGAGTTTCCGATTGGACAGATCTGGTCGCCTGGTGACCCCTGTGAGTTATGCATCTGCCAG
Seq A exon
GTGAATGACAACCTGCTCGCCTTCAGCTGCTTTACCTGGCTGCCCCGCCTCACCCAGAGGAGACAAGCGTCCTGGCCCCTCCAGAGGCTGGCCTCAGGCTGGCCGCAGTCTCCCTCCGGTGCTGTCAAGTTCCACTTTCACAAAAAGGGTTGGACCGAGTTTATCCTGCTCTCAGTAGATGTGTGAGGACGATGGTGCTTGGCAGTTGGCCTTAAGAAGTGTGTATTGTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGAGCGTGGTGGTAGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACCCCAGCCTGGCGACAAAGCAAGAAGGAGTCTCAAAAAAAAAGAAAAAAAAAGTGTGTATGGCCAAGAGTGGTGGCTCACGCCTATAATCCCAACATAGCTGAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACAAAAAAATACAAAAATTAGCTGCATGTAGTGACATGCCCCTGTGGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCTTCCTCAGCTCCTGAGGCTGACCCAGGAGGTCGAGGCTGCAGTGAGCCGTGATCACATCACTGCATTCCAGCCTGGGCAGAAGAGAAAGATCCTGTTTCAAAAAAAAAAAAAAAAAAAAGTGTGTGTAACACAGTGTGCATGTGCAGGGAGCTGCTGGCATGAGGAGTAAGAATTAGGAATCTTCATAGAAGGTTTTCCCCAGGCATGGATAACTGAGGGAGTGGGGTAGCCTGAGACCCAGTTGTTCAGGCTGTTTCTGTGAAATTGCAATGTTTTCTTCATGACTGCAAAACATGTGACCTCACCATTTCAGAAATGAGTAAGGAGGTGCATGAGTTTGAGTCAGATCAACAACAATGCAAACACAGCTATCCACCCAGAAATACAATTGTTTTAGCTCATTATTGAAGTACTAGTAATTGCAGTTTTTTACCATTACTTACAATGGCAGAAACCGCAATTACTTTTGCACCAATCTAATACATGCTGGCTTTCCTTTCTACTTTAAGAGCTTCGAGTCTTTTAGAGGTTTATTTCTCAAAATGAGGTCCCTTGCACCTGCGTTGGGAGCCCTGGTTAGACGTGCAGCCTTTCGAGGCCCTGCCCACACCTCTGCTCTCACAAACTGCATTTTAACCTCCAGGTGATTTGTGTGCACTTTCATGTGGGAGAAGCCCAGCCTTCTAGTGCCTTCGATGAGCCGTTTGTTAAAAAGCTGTAAGCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAACGCTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCAAGATAGAGCCACTGCACTCCAGTCTGGGCAAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATGCTGTAAGCTGAACACGTCTCATTGAAATTAGAGTTGGGAGGAAAGTCCTTCCTGTGCTGTCTTCTCCTTTATGACTGATTTCGGGCACCCATAATCAGTCACCAAGAGAGTGATACAAAAGGTTCAAACTGTCAGATTGTTTTTGTGTTTTTTTCTTTTAAAGAAAAAGAGGCCGGTTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAGGAGTTCAAGACGAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCTGGCGTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCATTTAAGCCCGGGAGGTGGAGTTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGCAATAGAGTGAGACTCCGTCTTAAAAAGAAAAAAAAAAAAAGAAAGAAACCTTGTATGGCACTTTGGCTCTCTGAAATAGACACTTCTGGTGGCATTGTTTTTTCTAAAAATAGGGTTTTATGGTACTCTGTAGGTTCCTGGTGAGCCAGGGTTCCAGGGAAAAGCTGAGAAAGGATTTGGATGGTGGTGACGGTGCAGGCTTTGGCTGCTACAGGAAGCGGAGGAGACCAGAATCCCAACCCTGACCTTCCTTCTCCTTAAAGATGCATAGACTTCCTGGAAGGCTCACATGGCCTTTCTCAAGTAGCCGATCCTCTTTAGGGGAGACCTGCCATCTTCCAGCCGCGTCATGTTGCCTTTCAGGGCAAGCCTTGGCCAGTTTGCAGCGTTGCTGTTTCTTTTGCAGGGCGGGGAGGCAGGGGCCGGTGTCACCGGTGGGGTCTTGGTGAAGTTCCTCCTTCCTCCAG
Seq C2 exon
GCAGATGGCTCGGTGAGCTGCAAGAGGACAGACTGTGTGGACTCCTGCCCTCACCCGATCCGGATCCCTGGACAGTGCTGCCCAGACTGTTCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992:ENST00000335613:14
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(46.6=93.1)
A:
NA
C2:
PF0009313=VWC=PD(50.0=87.9)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Conservation
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
- Autistic and control brains