Special

HsaINT0181295 @ hg38

Intron Retention

Gene
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61291264-61291576:-
Coord C1 exon
chr11:61291482-61291576
Coord A exon
chr11:61291354-61291481
Coord C2 exon
chr11:61291264-61291353
Length
128 bp
Sequences
Splice sites
5' ss Seq
TGCGTAAGT
5' ss Score
9.73
3' ss Seq
ACCTGCACTTCTCCTCTCAGCCC
3' ss Score
8.23
Exon sequences
Seq C1 exon
ACGCCGACTGGGCCCCCACGTCTGCCTCTCTGGGTTTGGGAGTGGCTGCTGCCCTGGCTGGGCGCCCTCTATGGGTGGTGGGCACTGCACCCTGC
Seq A exon
GTAAGTGCTTGTCCCTGTGCCCCAAGTCTTCTCCTCCAGCAGTGTGTGTTGCCAGCCCTCAGTCCCTGGTCCGAGGGGCAGACGGGAGGCCCCAGTTCCTCGTGTCTCACCTGCACTTCTCCTCTCAG
Seq C2 exon
CCCTCTGCTCCTTCGGCTGTGGGAGTGGCATCTGCATCGCTCCCAATGTCTGCTCCTGCCAGGATGGAGAGCAAGGGGCCACCTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992:ENST00000335613:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.046 A=NA C2=0.048
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:


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:
ACGTCTGCCTCTCTGGGTTT
R:
AGGTGGCCCCTTGCTCTC
Band lengths:
162-290
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