Special

HsaINT0181157 @ hg38

Intron Retention

Gene
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114272740-114278047:+
Coord C1 exon
chr10:114272740-114272934
Coord A exon
chr10:114272935-114277913
Coord C2 exon
chr10:114277914-114278047
Length
4979 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
GTTACAACCCCTTGGCACAGGTG
3' ss Score
3.84
Exon sequences
Seq C1 exon
AGGAGGGCGCACGGAGACGGAACTTGCTCTGAAATACCTTCTGCACAGAGGGTTGCCTGGAGGCAGAAATGCTTCTGTGCCCCAGATCCTCATCATCGTCACTGATGGGAAGTCCCAGGGGGATGTGGCACTGCCATCCAAGCAGCTGAAGGAAAGGGGTGTCACTGTGTTTGCTGTGGGGGTCAGGTTTCCCAG
Seq A exon
GTAAGAGCCTCAGTCACCCTGGATCAGCCCTCAGGTGGTCAGCCTGGGGATCGTGACATGGCCATGGGAGGGAAGGGAGGGGACTGGAAGAGCCGTCCAGGTCCTTCCCTGGATCTGTCTTTTCCTCACTTTGCCATTTTGACTCCAGTGCACAGGAAGCTCCAATCTTTTGGAGCCTGTATTTGCATTGATTTTGGTTTTGTTTGAAAACTCAGTTGCAAGTGCCAGAAACTCTGCTGAAATTTATTTGGGCAAAAATGGAAATTCATGGAGTGATCTCATTCACTGGGTGGGATGGGGGTCCCTCAGGGTGTGCAGGAGCCAGGGACTTCAGTGTCATCGAGATTCTTCCACATATCTCTGCTGTTCTCTGCCTGTTGCCTCCTCTCGTACCCTGACTTTATTAGGAAGCTGGAACTGGAGCTGTGGACGGTGCCCAGCTCACGTCTTCAGAGCTCCACCCTGGAGAGAAAAGACCCCTTTCCACAGTTTAACAATCCAATAAAATATTCTAATCAGCCTGAGGCAGAGCCCACTCTTGGGGCCAAGGGAGTAGGAGTCTGACTGGCCACTCCCCCTTTACCCCATTTGTCTAGCTGCTGGGCAAATAGGCTTTCCTAGAAGAGAGGAGGGTACAGATCCTTAATGCTCTCAAACCAAAAAATGGACGTCACTTATGCCATGGACCAATAGTTATTGTGAGCGTTAAGTGAAATGACTCTGGTCTGGGCACTGTGTTTGCACACAGAAATCTCTTCATTAATTTTAGTACATTATTTAATTTCTCAGTTAATAAATCCAGGGTTGTCTTTCTCATGCTGGGCATTATTCTAGGTGCTTAGAATACAGAGACAATAATACAAAGTCCCTGCCCTCATGGAGTTTCCATTCTCAGAAAGGAACTAGATAATAAATAAATACATAATATAATTTCAGGTGGAAGTAAAATGCAAAAGGGAAAAATAAAGTAGGGTAAGAGGCTAAAGAATGATGGGGAATAGAGAGGAAAGCTATTTTAGTTTGGGTGGTCAGTCAAGGCTTCTTTGAGAAATTGATTTTTGAGCAGAAACTTGAGTGAAGTGAGGAGTAAGCCTTCCAAATATCAGGGGAAGGCAGGGCAAAGCAGGCAGGTGGGTGGTAAGTACAAAGGCCCTGGGGCAGCAGGTAGGCTGGCGAGTTATAGGAAGGAACAGCCAGACGGCCAGGGAGGGGCGGAAGCCCAGCAAGCAAGTGGCAGAAACACAAGAAGTAAGGGTGGAAGAGCCAGGAGTCAGCCACAGAGACTTGGTGGGCATGGAGAAGATGTTAGTTTATTGTGAGTAGGATGACAGACAGCCTTTGGAGGGTTTTAAGCAGGGGAATGATATCTTCAGAGAATCACATTGGCTGCTGTGTACGAAATAGACTGACAGGATAGGGGTGGGAGAGGAAATAGTAAGGGGAGAGGGGAAACTGATTAGGAGGCCTTTGGCATGGCTCACAAAAGAGATCATGGTGGCTCCTAGAGGGAAGCAGCTGCAGCCTCGACTTAGGATATGTTTGTTGTTTGTTGTTGTTTTTGAGACAGCCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCATGCTTCAGCCTTCTGAGTAGCTGGGATTATATGTGCATACCACCACACCTGTGCACGCCACCACACCTGGCTACTTTTTTTTTTTTTTAAATAGAGATAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGGCTTCAAGTGACCCACCCGTCTCAGCCTTCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCGTTGGCTTAGGATATGTTTTGAAGGCAGAGCAGTGAGCGGCCGCCACTGAATTGGAGGTGGGTGTGTGAGAGAAGAATTGAGGATTTTGACTTGAGCCCCAGAGTGAATAGTGGTGCCATCTCCCGACATGGGAAAGATGACAACGGGGGAAGAGCACGGGACATTGTGTTCTGTTTCAGACAGAGGAAGTTTGCGGTGCACATTGTACAGCTCAGTGTGGGAGCCGAGCAGACAGTTGGGTGTGAGAATCTGGAGCATGGAGGAGGGGACAGGCATGGAGATTGAAATTTGAGGTGGTTTTTAAATCTGATATAAGGTCACCTAGGTAGTGGGGACAGGGAGAGAAGATGACCAACGGGCCAGCAAGTGCAGGTCAGAGAGAGGAAGAAGATAGAGTGATGGAGACTAAAGAGCGGCCAGTAAGGTGGGGACATCCAGGATTGTGCCATGTCCTGGAAATGGTGATGACATCATTGTCATCAATCATTGTGATCAGCAAGTTGGCATTTAACACAGCCTGCCTTAGCCTTCATTGGCTCATTTTGTCTTCTCAAATATAGGCAATACAAACTCCTGGAGAGAGGAGAGAGGGACTTTGCCTCATGGCCCTCTGCCCGCCGTTTCCCACATTGTGCCAGACACAGTGCCTTGAGCATAGCCATTGCCAAAGATTTGTCCATGAGGGTAGAACCCACCACACGGTGGGAATCCCTGTCTCCTTCCAGTGCTTTCTTCTTCAGCAGGTAGCTGGAACAGTGCCTCTCAAACTGGACCAGTATTTTGTTTTTTTGGTTTTTTTTCCCCCAGATACACCATGGACTGATAACTTTTTAAAAATACAATAAAAATGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGATGGTGGATTACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCAAACAGGATGAAACCCTATCTCTACTAACAATATAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTAGGGCAAGAGAGTCACTTGAACCCAGGAAGCAGAGGTTACAGTGAGCCGAGATTACGCCACTGCAGTCCAGCCTGGGTGACAGAGGGTGACTCCGTCTCATAAAACAAAAATAAATTAATTAGGGGAAAAATGAAATAAACACAATATAAATTCAAATGTTTATTATTTGATTCAGCAGACATAAAATGACTGTCTCATCGCTGTCCAGTTAGTTTGTCAGTGTTTCAGTGTCTGCGCTTGTCCCCTCTGCACCAGCGTTTAATGCTTAGGGAGCTGCTCTGCCCACCCATTGCTCTTTGAGCAGCCATGGCCTAGAGAGATGAGAAGCCATTCCTTGGGAGGGGGATGGCCTGAGCTGAGGGCCATGTAGGGCTCCCAGGACCACCTGACCCACCCCTCCCCACTCCCACCAAAGGGCTGAGTCGCTGTTGCTCACTGGTTCTCAACGTGTGCTCCCTGGATGCAGTATCTTCGTCACCTGGGAGCCTGCTGGAAACGCACAGCCTGTGGCCCCACACCACTGAATCAGAAACTCAGAGTCAGAGAGCCTTGGTCTGCTCTTCATCCTGCCTTCAGTGACTCTGATGCCCACCAGAGTTTGAGGGTCACTGCCAAGGGCAGCGTGAAACTCTACAAGCAATAAAGCAAAAAAACTGATACTGGTTCAGTCTCTACTTTTATTTTTTTGAGACAGGGTCCCGCTCTGTCACCCAGGCTGGAATGCAGTGGCACGATCATGGCTAACTGCAGCCCTGACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCACCCAAGTAGCTGAAGTAGCTGGGAATACAGATGTCTGCCACGACACCCAGCAATTTTTTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGGGTTTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAAGCTTGAGGGATTCTCCCGCCTCGGCCTCCCAAAGTACTGGGATAACAGGCGTGAGCCACTGCACCTGGTCTCTTTCCGCCTTTTGAGCCCCTTCTCTGACAGTTCTCAGCTCTGGCTCAGCATCTGAATTACCTGGCAGCTTGTAAGAAAGTCCATTGCAGGGCTGGGGGGCTCCAGGGCTGGCAGCACTGCCTGCAGACCGTGGCTGTGCAACGCCTCCCCTGTGCACATGTGCCCTCAGGGCTCAGTCCTGGGTCCTGGGAGGAGAATCTGTTTTATGTGCATTCAGAGGAGAATGGGAAGTTTTACAGACCTGAATTTTAGAAATGAATGGGATTTTTGCCCTATCGTCAAACCTTGGTCCACCCTGATGACTTTTCAAGGACAGGATTCTTCTAGATACATTACTGACTGCACGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGAGACAGACTCTCACTCTGTTGCCCAGGCTGGATTGCAGTGGCACAATCTCGGCTCACTGCATCCTCCACCTCCCAGGTTCAAGTGGCTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAACTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCTAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTAGGCGTGAGCCACCACACCCCCCCTCCGACTGTGTGTCTTCTTAAAATGAGGTTTCTCAACATCGCCTAACCCTTTCTTCATGTCCTAGTGTCACCATCTGTACATCATTTTCCTCCTGGCACAAACAGCGCTGCCCTATGGCTATCGAGGTGTGCTGGCCGCTTCCTCTAGATGGCCTCCTATTGCTGGCCTTGGAGTTCTTACGTCCATTGTTTATCATTCCTCAGTCTTTTTTTCTGTTACCAGCTATGCTTGCTTGTTCTTTGCTTGCTGTCACCTCGAACCACTTTCTTTCATTTCCATTCCGGTTAACTGTTTTCCTCACCAGCTATGGGTCTGACAAAACCAGACACTAAATCTGTGCTGCCATCCACAAGGAACCCACGGCCTAGAAGATGAGGGGGCAGGAGGAGGGTGGGTATAGGACCACAAGCTGTTACAACCCCTTGGCACAG
Seq C2 exon
GTGGGAGGAGCTGCATGCACTGGCCAGCGAGCCTAGAGGGCAGCACGTGCTGTTGGCTGAGCAGGTGGAGGATGCCACCAACGGCCTCTTCAGCACCCTCAGCAGCTCGGCCATCTGCTCCAGCGCCACGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816:ENST00000392982:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.045 A=NA C2=0.022
Domain overlap (PFAM):

C1:
PF0009223=VWA=FE(37.8=100)
A:
NA
C2:
PF0009223=VWA=PD(19.2=71.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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