Special

HsaINT0180185 @ hg38

Intron Retention

Gene
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218435289-218436626:+
Coord C1 exon
chr2:218435289-218435434
Coord A exon
chr2:218435435-218436481
Coord C2 exon
chr2:218436482-218436626
Length
1047 bp
Sequences
Splice sites
5' ss Seq
GAGGTAACT
5' ss Score
8.77
3' ss Seq
ATCTTCTCTCCATCCTGCAGACT
3' ss Score
10.39
Exon sequences
Seq C1 exon
GGTTGTAGCGGGGACGAGCGGGAGATGGCCAAGATGGTTGCTGACACCATCTCCCGGACGGAGAAGCAAGTGGTGGTGGAAGGGCAGGAGCCAGCCAACTTCTGGATGGCCCTGGGTGGGAAGGCCCCCTATGCCAACACCAAGAG
Seq A exon
GTAACTCTCAGGTCCCTCCGCCTCCAGGTTACCAAGGTGGGGGAGCCGCCCAGCATCTCCATCCCTACACCCAGAGCCTACAGCAGGCATGGACTGAGGACTCTGTGTGTCAGGCACTGTGCCAGACCCCCAGGGCTACAAGATGAATAAAGGGCAGCCCATACCCTTGGAGCCTCTTGGCACAGGGGCTGTGTCTGTGCTGCTCACTACAGTATGCCCAGGACCTGGTGGGGTATTTCCTTGGCAAAGGGAATTCCTGGCCATAGGAGGCAGCTCAAAGCAAGGGGCAGGGCTAGAGGTTTGCCTTTCAGTAACAAGATGCCAGAGGCCAGCCTGCTTTTAGGTCCTGACACAGGCCTGGGATGCTGAGGAGCCCCAGCCACAAGCCCTCTTTCAAATGGTTTTGTTTTGTTTTTGTGACAGAGTCTCGCTCTGTCAACTAGGCTGGAATGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCTGCCTCCGCCTCCCAGGTTCCAGCAATTCTCCTGCTGCAGCCTCCTGCGTAGCTGAGATTACAGGCGCCCACCACCGTGCCCGGCTAATTTTTGTATTTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGGGCCACGGTGACTGGCTCAAATGGTTTTTCTAGAGAATATCCATGATCTACTAGTCCCTAGTTCAAAAGCAAAAGGGCATGTACTGTAGTAGCAGTAGGAGGGATGGAGGGAAGATATCAGGAAGAACTTCCTAACAAGGCTCTGCAAAAGACACTGGAATGCATGTCCAGAAAGCAGTGACAATTTCTTCCTCAGAGCACTCTTGGAATGAGAGGGGACCCTTTTATCAATCAGAAGATAGAGCATTTTGCTGGAGATGACCTTTCTATGCCAGAGTCCCTTCCTCAGAGTTCTGTGTCCTCAATTCTCCTTTTGCCACACCTTCCTTCTGCCAGTACAATCTTCTCTCCATCCTGCAG
Seq C2 exon
ACTACAGGAAGAAAACCTGGTCATCACCCCCCGGCTCTTTGAGTGTTCCAACAAGACTGGGCGCTTCCTGGCCACAGAGATCCCTGACTTCAATCAGGATGACTTGGAAGAGGATGATGTGTTCCTACTAGATGTCTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.068 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0062617=Gelsolin=PD(48.6=69.4)
A:
NA
C2:
PF0062617=Gelsolin=PU(34.2=55.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGACGAGCGGGAGATGG
R:
TGGTCCCAGACATCTAGTAGGA
Band lengths:
280-1327
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains