Special

HsaINT0181299 @ hg38

Intron Retention

Gene
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61281786-61282905:-
Coord C1 exon
chr11:61282789-61282905
Coord A exon
chr11:61281915-61282788
Coord C2 exon
chr11:61281786-61281914
Length
874 bp
Sequences
Splice sites
5' ss Seq
TAGGTAAGG
5' ss Score
9.31
3' ss Seq
GCAGCGAGGCTCTCCCGCAGATG
3' ss Score
2.51
Exon sequences
Seq C1 exon
ACACTGACGAATGCCTAGGGACTCCCTGTCAGCAGAGATGTAAAAACAGCATTGGCAGCTACAAGTGTTCCTGTCGAACTGGCTTCCACCTTCATGGCAACCGGCACTCCTGTGTAG
Seq A exon
GTAAGGCGGGGAGGACCCTGTGGTCTGCACACTTAGGCTGCCAATCAGGAGGATGGACAGGGAGCCCAGGGACCCGGGAAGGTTAACAATTAGACTTTCTGGTCCTCTGGAGCTTGAAGGGGCTTGAGCCTTTGGCTCAGAGCCTGCCTGTCCCTGGGGTTGGTGTGGCTCTGCATGAAGACCCTGTCTTGGACTTTTCCTGGCCATTTGCCACTTTCATCCTGTTATGTTTCTCTTCCGCTCCTCTCCCAGATACACCCCAAGGATTCCTCTCTGCTCACCCATTTTCTTGGCTGCCTTTGCTCCCCTTGGTAAATAAAGCACGTTATGTCTTGGTTCCTCTGGTTTAGAAGGAGACCCTGTTTTCTCAGCCCATTAGCAGAAATTTCCAGAAAGGGATTGGCATGTTTGGTTTGAGCTTGGCTCATGGGTTTAAGGTGGGGTCCCATGGGCCTGAAAAAAGACCTTGTTCTAGCGGAGTTAGGTATTTGTCCCGAAGCCTTCCTTCAGCAGCCCAGTGAGTTTTGAGACTTTTTTCGGAAAGAAAAACGGGAGGGTGGAAGGTTTGGAGATGAGCTTCTCATTGGGGCTTACCCCTACCACGCAGCAATTAATTACCGCTGCATAGTGCTGGGGCTGAGTCTCTGATACTCGCATTAAATACCTGCTCGATGTGTGAACCTATTAACAAGACAAGCACTAGATTTCAGCCCCGCTCCCAGCTGTCTGAGTCACATCCCGCACCTCGGGGCAGGCATGGACCCTGTAAGAACATGGCAGAGAAACTCCCCAAGTGTTTTGAGCTAAGGGATGGGCGGAAGAAGGGCTCCGTAGCCCAAACAAAGCAGCTGTCCGCAGCGAGGCTCTCCCGCAG
Seq C2 exon
ATGTAAACGAGTGTCGGAGGCCATTGGAGAGGCGAGTCTGTCACCATTCCTGCCACAACACCGTGGGCAGCTTCCTATGCACATGCCGACCTGGCTTCAGGCTCCGAGCTGACCGCGTGTCCTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992:ENST00000335613:6
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:
PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.5)


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:
ACACTGACGAATGCCTAGGGA
R:
CTTCACAGGACACGCGGTC
Band lengths:
246-1120
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains