Special

HsaINT0180194 @ hg19

Intron Retention

Gene
Description
villin 1 [Source:HGNC Symbol;Acc:12690]
Coordinates
chr2:219292950-219294210:+
Coord C1 exon
chr2:219292950-219293060
Coord A exon
chr2:219293061-219294007
Coord C2 exon
chr2:219294008-219294210
Length
947 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAAC
5' ss Score
4.45
3' ss Seq
CACCAGGGGCCTTCCTGCAGGGC
3' ss Score
5.24
Exon sequences
Seq C1 exon
GTAGAGATGTCCTGGAAGAGTTTCAACCGAGGGGATGTTTTCCTCCTGGACCTTGGGAAGCTTATCATCCAGTGGAATGGACCGGAAAGCACCCGTATGGAGAGACTCAGG
Seq A exon
GTAAACCTGCCCATGCACCACACCTCCCTCTCGAATCCTAGACTGCCCCCACCTGCTCCTTTCCCCAGGCCTCTCCCCGCTGACTGCTGGGGACAGCATGTTTGAAGGTGGCTCAGTCTCCATGTGTTTGGTGCAGGCATGCATGTTGGAGTTTGCGTGTGTGTACTTGTGGTCAATCCACTCAGATAGAATGAGTCTCTACAGTGTGACAGAGCCTGTGCCAAGCCTTAGGGATCCAGTGGTGAATGAAATGGGCATGGACATACGTGTGTTTATACTCACAGTACATTGACGCTGTGTGTGCACTGTGAGACTGCAGGCATGTTTGGGTGCAAAGAGATTTTTTTTTTGGAAACACAGTTTTGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACCGCAACCTCCGCCTTCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCATCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAGAGTGTTGGGATTACAGGCATGAACATGATTGAGTACTGTGATCCTTGGGGCTCAGCTCGTGTCCCGAACTGTGAAGTCTAAGCACACATTTCCCACACTGTCAGAACAGAAGGCCCAGCAAGCCCGCTTGAGCACCTCCCTGACAGTGGGGAAACCTGCTCTCCCAGCTGCCTTCCCCCTGGTTTCCTTACATGCCTTAAAAGCTTGACCCCTCCGACGGGGAAAAGCAGGGCAGGGGTCTCAACCCCTGTGGCTGCTGTAGGTGGTCTGGGCTTGCCTGGCAGGGTGTAGGGTGGCAGACACTGCCTCATTCCCCGACTACTCCCGATGGGTCACCAGGGGCCTTCCTGCAG
Seq C2 exon
GGCATGACTCTGGCCAAGGAGATCCGAGACCAGGAGCGGGGAGGGCGCACCTATGTAGGCGTGGTGGACGGAGAGAATGAATTGGCATCCCCGAAGCTGATGGAGGTGATGAACCACGTGCTGGGCAAGCGCAGGGAGCTGAAGGCGGCCGTGCCCGACACGGTGGTGGAGCCGGCACTCAAGGCTGCACTCAAACTGTACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-VIL1:NM_007127:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.079 A=NA C2=0.044
Domain overlap (PFAM):

C1:
PF0062617=Gelsolin=FE(48.0=100)
A:
NA
C2:
PF0062617=Gelsolin=PD(40.0=44.1)


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:
AGATGTCCTGGAAGAGTTTCAACC
R:
TGGTACAGTTTGAGTGCAGCC
Band lengths:
310-1257
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains