Special

HsaINT1046449 @ hg38

Intron Retention

Gene
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114290240-114291513:+
Coord C1 exon
chr10:114290240-114290365
Coord A exon
chr10:114290366-114291217
Coord C2 exon
chr10:114291218-114291513
Length
852 bp
Sequences
Splice sites
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
3' ss Seq
GACTTCACTTCCTTCCCCAGGAT
3' ss Score
9.93
Exon sequences
Seq C1 exon
AAGCCAAGCAGCCAGTCAACCTCTGCAAACCCAGCCCGTGCATGAATGAGGGCAGCTGCGTCCTGCAGAATGGGAGCTACCGCTGCAAGTGTCGGGATGGCTGGGAGGGCCCCCACTGCGAGAACC
Seq A exon
GTGAGTGGAGCTCTTGCTCTGTATGTGTGAGCCAGGGATGGTATTGCGAGTCCTGCCAAGTCCCACAAACTCAGCTGAAGGCAGGTTCTAAAACATTCGTTCAGTGGAAGAAATTATTCAGTCGTTTACCCACGAAACATTTAGTGAGTACCTCCTGCATCCCAGGCATTGTTCTCAGTGCAGGAACATAGCAGTAAACAAATGAATAAAACCTCTGCCCTCATGGAGCTTCCATTCTAATGGGAAGACAGACAATAAGCAAATAATACAACATGTGGTGTGGTAGACGGTGCTAAGCACCCCGGAGAAAGTCATGACAACTAGGAGGGAGGCCACAGTTAGGAGCACAGTAGATCCAGGGTACAGGGATGTAGACGGAGGCAGGGATGGGTAAATGCGGTGGTGGGAGCTGCTGGAAGCTCTTTTTGGGGTGCTATTTGCTCAGTAAAATGGGAGGAACAGCTAAGTGAGGACGAGGAGGAGGTGCTAGAGGTTTGAGAGAAAAGAAGTCATTGTCAAGGGTAACAGATTAGGACCTAGAGAGTGATCGTTGGGAGGCATTAGAGGTCCAACTATGGCTCCTGTTCATGAGTTTGAAGTTAGAACAGCCAGAAATCAGAAGACAAGTCCAGTCGGAGCCTTGGTTTTTTGGCCACGGGCAGAGGTTGGCTTCCTAAGGCCAGAGAGAAGCTCTGGAGGATAATCACATGGGGTCTCTAATCTGGCATCTTCTGCTGGGGGCGAGGTGGGTTGTAGAGTAAGAGCAGGACCTGAAGGGGTCCTCAGAGGCTGCTGGAGGGCTGAGAAGGGGATGCAGACACTCCTGTCCTCAGACTTCACTTCCTTCCCCAG
Seq C2 exon
GATTCTTGAGACGCCCCTGAGGCACATGGCTCCCGTGCAGGAGGGCAGCAGCCGTACCCCTCCCAGCAACTACAGAGAAGGCCTGGGCACTGAAATGGTGCCTACCTTCTGGAATGTCTGTGCCCCAGGTCCTTAGAATGTCTGCTTCCCGCCGTGGCCAGGACCACTATTCTCACTGAGGGAGGAGGATGTCCCAACTGCAGCCATGCTGCTTAGAGACAAGAAAGCAGCTGATGTCACCCACAAACGATGTTGTTGAAAAGTTTTGATGTGTAAGTAAATACCCACTTTCTGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816:ENST00000392982:13
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:
PF0000822=EGF=WD(100=72.1)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTCAACCTCTGCAAACCCA
R:
TGGGTGACATCAGCTGCTTTC
Band lengths:
357-1209
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains