HsaINT0015954 @ hg19
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:14188]
Coordinates
chr12:58197307-58200322:-
Coord C1 exon
chr12:58200143-58200322
Coord A exon
chr12:58197453-58200142
Coord C2 exon
chr12:58197307-58197452
Length
2690 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
TCTCCTCGCCCCACTCTCAGGGG
3' ss Score
8.63
Exon sequences
Seq C1 exon
GGTGGGACTTCCAGGAAGGGAAATGCCGAGCCTGACCCTCCAGTAAGACTCTTCCAAATTCATGGAAATGACAAATCTAACACCAAAGCAGTGGAAGTTCCAGCCTTTGCCTCCTCCCTAAACTCCAATGATGTCTTTCTGCTGCGAACTCAGGCAGAGCACTACCTGTGGTATGGCAAG
Seq A exon
GTAGGATGGCTGGGCCCCGGGTCAGACCAGCCCCTCGGAGCCCAGACCTGCACTCCCCTCCTCCTGTCAGCAAGGTCAAAGGACCTAGAGTAGGCTGGAGTGCTTGCTTTGGCAGCACATATACTAAAACTGGAATGATACAGAGAAGATTAGCATGGTCCCTGTGCAAGGATGGCATGCAAATTCATGAAGCGTTTGATATTAAAAAAAAAAAAAAAAAAAAAAAGCTGGGCACGGTGGCTCATCCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCTCTTGAACCAGGGGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGTACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCCAGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACAAGGTCAGGAGAACGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGCAGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGTAGACGGAGGTTGCGGTGAGCCGAGATCGCGCCATGGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAACTCACTGAAAGCCCTGCTTACACCTAGCAGAAATCTCATAAACTTCTATGCAGATGGAGGCTGGATAAGTCAATCTTCCCATGTGAATTTGGTGGACTCTAACAGACAGGCACTAATACAGAACAAAAACACAAAATATGATGTCAATTCATATTGCAATAGTGGATTAAAATGCACTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAGCATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGCAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGCTAACAGAGCAAGATTCCCTCTCAAAATAAAATAAAATGCACTAAAATTATTTTACAAAAAAGAACAGGAAAAGATGCTTAACATCATTAGTCACTAGGGAGATGCAAATCAAAATCAATGAGATAACCACTACACATCTATTAGAATGGTTAAAAAAATTGACAACATAAAATATGAGCAAGGATGCAGAGCAACAGGAATTTTCATGCATTGTTGGCAGGATTGCAAATGGTACAGCTTCTGGAAAACATTTCGACAGTTTCAGTTTTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTGTATTTTCAGTAGAGACGAGGTTTCGCCATGTTGCCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTAGGGAGCCACCACGCCCAGCTGACAGTTTCTTACAAAGTTAAACATACACTTACCGTATGATCCAGCAATCCTACTCCTGGGTATTTACTCAAGTAAAACAAAAAACTATCTTCACAGAAAAACCTGTGCACAAATGTTTATAGCACCTTTATTCATAATCAGAAACAACCCCACTGGAAAATGGATAAACAAACAGTAGTACATCCACATGATGGAATACTTCTCAGCAATAAAAAGGGATGAGCAGCGCGCTGGTAAACCCAACAGAGATCTCATATGCATTCTGCTAAGAGAAAGAAGCCAGACTGAAAGGCTAAATATTGTATGACTCCACTTACAGCATTCTGGAAAAGGCAAAACTATAGTGATGGAGAATAGATTCATGGTTACCAGAGGTTAAGGATTCAGGGAGGCTTTGACTCCAAAGGGGTCGCACCCCAGATAATTTTGGGACGGACTGAGGAAGAAACTGTTCTGTGCCTTTATTGTGGTGGTAGTAACATGATTCTGCTTGTGAAAATTCTTAGAATTGTATGTCAAAAGAGTATATTTTATTGTATGTACTTTTAAAAATAAATTTAAATTTTTTCTCTAAAATAAAAATCAAAAGTAGGTGCCTAAATTCAAACTGAAGCTGAAACAAAGGTGACTTTTGCCAACACCCACTGTGGGTTTCAAAGCCTAGTCCTGTTCTTTGCCCCACACTGTTTTCCTCCCCACTCCCCAGCACTAGAACAAACTTGTCTGTCTTCCCAGGCTGAGGGACTGTGGTTTGGTAGCTGATCCTGGCACACTGAGTTATTAGTCTCAGATGCTTTTCTTTCCACATCGAAGTGCCCCTGTGCAACTAACATCTGTGCTCTCCTCGCCCCACTCTCAG
Seq C2 exon
GGGTCTAGTGGGGATGAGCGGGCAATGGCTAAGGAGCTGGCCAGCCTTCTCTGTGATGGCAGCGAGAACACTGTGGCCGAGGGCCAGGAGCCAGCCGAGTTCTGGGACCTACTGGGAGGGAAAACTCCCTATGCCAATGATAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407-AVIL:NM_006576:13
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.217 A=NA C2=0.020
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(48.6=56.7)
A:
NA
C2:
PF0062617=Gelsolin=PD(48.6=69.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)