HsaINT0015959 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57797882-57799920:-
Coord C1 exon
chr12:57799795-57799920
Coord A exon
chr12:57797996-57799794
Coord C2 exon
chr12:57797882-57797995
Length
1799 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
3' ss Seq
AACTTTGTTTTCTCTCTTAGAAT
3' ss Score
9.91
Exon sequences
Seq C1 exon
GACATGAAGAATGCAACCCTCTCCCTGAATTCTAATGACAGTGAGCCAAAATATTACCCTATAGCAGTTCTGTTGAAAAACCAGAATCAGGAGCTGCCTGAGGATGTAAACCCTGCCAAAAAGGAG
Seq A exon
GTGAGTGGCTGAAGGAACTGTGTCTGTTGGAAGTGGAGCTCTCCGTGAGTAAAAAACTCAGCTCAGCAAATGGCCTAGGACAGCTCCGGCACATTGTAGCCGCTCAATGGACATCTGAGCTACCTAGGAACTCAAACCAAAAAAAACCAGGGTTCTTTCTTGATTCTTTTCTCTCCACCTACATCAGTCTATCAGCTAGCTTCTGTTCACTCCTCTTCCATTTCTCTGCTACTAGTCTAGTCCAGCTATCATGGACTACTTACTACAATCCAACTGGTTTCCACCTGTTCCTACAATCCGTTCCCCACACAACAGCCAAAGAGATCTTTAAAATATATGGCACGGCCCTGTTTAAAACACCTGGAATAGCTTCCCACTACATTTAAAAAAAGAATGTGAAGGCCTATACAATCTGGCCCCTGCCTAGCTCTCTGATTTCATTTCATATACCAATACCCTCATCACTCACCACCCTTCAGCCAGTACAGCGGCTGCTTTGCTGTTCCTTAAAACATGCTTATTCCAGCCTTTGAGCCTTTACACTTGCTAGTGTTCGTGCCTGAAAAAACATCCTTCTCCCAAATCATCACAGCACCAGCACCTTCTCATCATGTAGGTCTCAGCTCTAATATCACCTCCCCAGGGAGGCATTTCCTGACCACCCTAATACTGCTTCCCATACCTGCTCCAGTCCCTTTATACTTGTTCATTGCCTATTTCCCCCTCTAGTAATATCCTTAAAAGGAAGGACCTTTGTTTGTCTTGCTCACCATCATATTCTCAGCTTCTCTGCACCTACAACAGTGCCTAGCAGATAGCAAGTATTCTTAAGTTTTGCGTGAATGAATTAACATATTTGAGTTAAAAGAATAAATTTCTTGGCCGGGCACGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACTGGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGAGGAGAACTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCCACAAAGCAAGAATCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAGAATAAATTTCTTTTCCCCTTGAAGAAGTTGATTTAGGCACAGACTCTGGACTCTGGATTTCCCACAATGTCTTATCTAGTCAACTCAAGTATCTGGACTACAATTTTCTTGAAAGCAAAGCCCATATATTAATAATCTTTACTTGTATATAAATATTCAATAAATCATTAAGTAAATGTGTAGAAGAATTTTATGCTCAATAAGATCCACCCGATCATGCATTTGAAAATTTATGGGTAAAAATGGTAGTTACGGGCAGAAAACAAGGAAAACCATAGCTCAATTTAGTTCTTCATTCTGCCAAAATTTGATGTCTGTAATTCATCCTTAATACATAACCCATTTATTGCCTTCTGGCAAGAAACTGGCGCTTGCTGGCACTGTGAGAGCAGTGAATCCAGTAAGCTTCTGCCACAGGCCAAAATGGGACTCCCTGACCTGAAGAACACCTCTCCAATGAATAATTTAAATCTTTAACAGCCTTTCTGAGAAATTCATTCTACTTCCCTCTTCAAGGATCCACCTAGAACTCCCTCTTGCTCCAACTTCCTCAACTTCTGTTGGCAATGATGTCATGTCTTCCTTCTAACTAGAAACTTTGTTTTCTCTCTTAG
Seq C2 exon
AATTACCTCTCTGAACAGGACTTTGTGTCTGTGTTTGGCATCACAAGAGGGCAATTTGCAGCTCTGCCTGGCTGGAAACAGCTCCAAATGAAGAAAGAAAAGGGGCTTTTCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.238 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0220914=VHP=WD(100=94.7)
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:
TGAAGAATGCAACCCTCTCCC
R:
AAGCCCCTTTTCTTTCTTCATTTGG
Band lengths:
230-2029
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