HsaINT0015958 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57799795-57801212:-
Coord C1 exon
chr12:57801144-57801212
Coord A exon
chr12:57799921-57801143
Coord C2 exon
chr12:57799795-57799920
Length
1223 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
TACATTCTTATCTTACCTAGGAC
3' ss Score
7.74
Exon sequences
Seq C1 exon
GCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCT
Seq A exon
GTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACCAGAGCCAGAGAACACACAAATGCTACAGATGCTCACAGGCAAAACTCATGTCCTTAGTATTACCATAGTTGTCTGTTTTGATGTAAAGACTTTTTGTAATCAATAGAAAAGCAGGTCTCAGAGCCAAGTTCCTTATTTTCCTGACTTCCAGATTTTCAAACAGACTTGCTGTGTAAAAACAACAAAAATGGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCCGGCCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAACTGCTTGAACCCAGGAAGCGGAAGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCCGTCTCAAAAACACAACAACAAAAAAATGAATATTTGTTTTATTATTCAACTCTGCCGTTTAAGGAGAGATTAAAGTCATTGGCAGTATTTTTCAGAAATAAGCTTCTAACCCAAATGACATTTTTATTCATTTCTGACAGTGAAGTCCACAGAAACTTAGGCCATTTACACCTATTTTAATGGTTAAAAGAAGTGGAGCCTCTAGCCAGGAATCCAGCAGTTCTTTAACCTCAGGAGGAGTGCATGGCACCAGGTGTTCAAACCATCTGGCAATTCTGTCCTTTGTGCTCTACAAACTCAGATTCCAAAGCTAATGTTGATGTAGTATCTTTAAATTGTATTTAAGTAGGACTACAACCTAAAGTCATTTAAAGGCTGGAAATGCAGGGCTAAATAAAAGTACCAAGAGAAGGTATGTGATCCCAATATTCAAATGAGATCCAGACACAAGATGTATGCCAAACTAGCTATACAGGACTTGCCTTGGACTTACTGAATCAGCTTTCCCAAGAACAACCCCAAAATCTGAATATTTTCTATTCCCAGATGATTCTGACATGCAGCCAGGTTTGGGGAGCATTGTTATCAAAGATGATTACAGAGGGTGAAGTGGCATAAGTCAAAATGTTAAATATTATACACATTCAGAACTGTAACCACACAGACACTGAGGAGTCTTTTCCCTGTGCCTACATTCTTATCTTACCTAG
Seq C2 exon
GACATGAAGAATGCAACCCTCTCCCTGAATTCTAATGACAGTGAGCCAAAATATTACCCTATAGCAGTTCTGTTGAAAAACCAGAATCAGGAGCTGCCTGAGGATGTAAACCCTGCCAAAAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:17
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=0.238
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGAACAATTAAAAGAAGAGCTGGGA
R:
CTCCTTTTTGGCAGGGTTTACA
Band lengths:
182-1405
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